ReferencesYearPubMed IdDisease
1Abalkhail, H.; Mitchell, J.; Habgood, J.; Orrell, R.; de Belleroche, J. : A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2. Am. J. Hum. Genet. 73: 383-389, 2003.
2003
12830400item
item
2Abati E, Magri S, Meneri M, Manenti G, Velardo D, Balistreri F, Pisciotta C, Saveri P, Bresolin N, Comi GP, Ronchi D, Pareyson D, Taroni F, Corti S. Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations. Ann Clin Transl Neurol. 2021 May;8(5):1158-1164. doi: 10.1002/acn3.51364. Epub 2021 May 4. PMID: 33943041; PMCID: PMC8108422.
2021
33943041item
3Abbott GW, Butler MH, Bendahhou S, Dalakas MC, Ptacek LJ, Goldstein SA. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell. 2001 Jan 26;104(2):217-31.
2001
11207363item
4Abbott, G. W.; Sesti, F.; Splawsky, I.; Buck, M. E.; Lehmann, M. H.; Timothy, K. W.; Keating, M. T.; Goldstein, S. A. N. : MiRP1 forms I(kr) potassium channels with HERG and is associated with cardiac arrhythmia. Cell 97: 175-187, 1999.
1999
10219239item
5Abel, A.; Fonknechten, N.; Hofer, A.; Durr, A.; Cruaud, C.; Voit, T.; Weissenbach, J.; Brice, A.; Klimpe, S.; Auburger, G.; Hazan, J. : Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics 5: 239-243, 2004.
2004
15517445item
6Abou Jamra, R., Philippe, O., Raas-Rothschild, A., Eck, S. H., Graf, E., Buchert, R., Borck, G., Ekici, A., Brockschmidt, F. F., Nothen, M. M., Munnich, A., Strom, T. M., Reis, A., Colleaux, L. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am. J. Hum. Genet. 88: 788-795, 2011
2011
21620353item
7Abou Jamra, R., Philippe, O., Raas-Rothschild, A., Eck, S. H., Graf, E., Buchert, R., Borck, G., Ekici, A., Brockschmidt, F. F., Nothen, M. M., Munnich, A., Strom, T. M., Reis, A., Colleaux, L. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am. J. Hum. Genet. 88: 788-795, 2011.
2011
21620353item
item
8Abou Jamra, R., Philippe, O., Raas-Rothschild, A., Eck, S. H., Graf, E., Buchert, R., Borck, G., Ekici, A., Brockschmidt, F. F., Nothen, M. M., Munnich, A., Strom, T. M., Reis, A., Colleaux, L. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am. J. Hum. Genet. 88: 788-795, 2011. 
2011
21620353
9Adelman, J. P.; Bond, C. T.; Pessia, M.; Maylie, J. : Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 15: 1449-1454, 1995.
1995
8845167
10Agolini E, Cherchi C, Bellacchio E, et al. Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6. Clin Genet. 2020;97(4):649-654. doi:10.1111/cge.13691
2020
31846058item
11Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH. Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin-Binding Protein, Cofilin-2. Am J Hum Genet. 2007 Jan;80(1):162-7.
2007
17160903item
12Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Halilo?lu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014 Aug 7;95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul 31.
2014
25087613item
13Ahlberg, G.; von Tell, D.; Borg, K.; Edstrom, L.; Anvret, M. : Genetic linkage of Welander distal myopathy to chromosome 2p13. Ann. Neurol. 46: 399-404, 1999.
1999
10482271item
item
item
item
item
item
item
item
14Ahmad F, Li D, Karibe A, Gonzalez O, Tapscott T, Hill R, Weilbaecher D, Blackie P, Furey M, Gardner M, Bachinski LL, Roberts R. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation. 1998 Dec 22-29;98(25):2791-5.
1998
9860777item
15Ajroud-Driss S, Fecto F, Ajroud K, Lalani I, Calvo SE, Mootha VK, Deng HX, Siddique N, Tahmoush AJ, Heiman-Patterson TD, Siddique T. Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy. Neurogenetics. 2014 Sep 6.
2014
25193783item
16Akawi, N., McRae, J., Ansari, M., Balasubramanian, M., Blyth, M., Brady, A. F., Clayton, S., Cole, T., Deshpande, C., Fitzgerald, T. W., Foulds, N., Francis, R., and 30 others. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genet. 47: 1363-1369, 2015.
2015
26437029item
17Al-Chalabi, A., Andersen, P. M., Nilsson, P., Chioza, B., Andersson, J. L., Russ, C., Shaw, C. E., Powell, J. F., Leigh, P. N. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum. Molec. Genet. 8: 157-164, 1999.
1999
9931323item
18Al-Saif, A., Al-Mohanna, F., Bohlega, S. A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Ann. Neurol. 70: 913-919, 2011.
2011
21842496item
19Al-Saif, A., Bohlega, S., Al-Mohanna, F. Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. Ann. Neurol. 72: 510-516, 2012.
2012
23109145item
20Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V. New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy. Neurol Genet. 2019 Jul 10;5(4):e349. doi: 10.1212/NXG.0000000000000349. eCollection 2019 Aug.
2019
31403083item
21Al-Yahyaee, S., Al-Gazali, L. I., De Jonghe, P., Al-Barwany, H., Al-Kindi, M., De Vriendt, E., Chand, P., Koul, R., Jacob, P. C., Gururaj, A., Sztriha, L., Parrado, A., Van Broeckhoven, C., Bayoumi, R. A. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology 66: 1230-1234, 2006
2006
16636240
22Al-Yahyaee, S., Al-Gazali, L. I., De Jonghe, P., Al-Barwany, H., Al-Kindi, M., De Vriendt, E., Chand, P., Koul, R., Jacob, P. C., Gururaj, A., Sztriha, L., Parrado, A., Van Broeckhoven, C., Bayoumi, R. A. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology 66: 1230-1234, 2006.
2006
16636240item
item
23Alazami, A. M., Adly, N., Al Dhalaan, H., Alkuraya, F. S. A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). Neurogenetics 12: 333-336, 2011.
2011
21796390item
24Albulym, O. M., Kennerson, M. L., Harms, M. B., Drew, A. P., Siddell, A. H., Auer-Grumbach, M., Pestronk, A., Connolly, A., Baloh, R. H., Zuchner, S., Reddel, S. W., Nicholson, G. A. MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Ann. Neurol. 79: 419-427, 2016.
2016
26659848item
25Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. Am J Med Genet A. 2019 Mar;179(3):386-396. doi: 10.1002/ajmg.a.61025. Epub 2019 Jan 16. PubMed PMID: 30652412.
2019
30652412item
26Allamand V, Sunada Y, Salih MA, Straub V, Ozo CO, Al-Turaiki MH, Akbar M, Kolo T, Colognato H, Zhang X, Sorokin LM, Yurchenco PD, Tryggvason K, Campbell KP. Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain. Hum Mol Genet. 1997 May;6(5):747-52.
1997
9158149item
27Almomani, R., Verhagen, J. M. A., Herkert, J. C., Brosens, E., van Spaendonck-Zwarts, K. Y., Asimaki, A., van der Zwaag, P. A., Frohn-Mulder, I. M. E., Bertoli-Avella, A. M., Boven, L. G., van Slegtenhorst, M. A., van der Smagt, J. J., and 13 others. Biallelic truncating mutations in ALPK3 cause severe pediatric cardiomyopathy. J. Am. Coll. Cardiol. 67: 515-525, 2016.
2016
26846950item
28Alston, C. L., Compton, A. G., Formosa, L. E., Strecker, V., Olahova, M., Haack, T. B., Smet, J., Stouffs, K., Diakumis, P., Ciara, E., Cassiman, D., Romain, N., and 19 others. Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype. Am. J. Hum. Genet. 99: 217-227, 2016. [PubMed: 27374774,
2016
27374774item
29Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissi²®re A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Mart²≠n MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain. 2008 Feb;131(Pt 2):338-51. Epub 2007 Dec 24.
2008
18158317item
30Andersen, P. M.; Nilsson, P.; Ala-Hurula, V.; Keranen, M.-L.; Tarvainen, I.; Haltia, T.; Nilsson, L.; Binzer, M.; Forsgren, L.; Marklund, S. L. : Amyotrophic lateral sclerosis associated with homozygosity for an asp90-to-ala mutation in CuZn-superoxide dismutase. Nature Genet. 10: 61-66, 1995.
1995
7647793item
31Angelini C, Marozzo R, Pinzan E, Pegoraro V, Molnar MJ, Torella A, Nigro V. A new family with transportinopathy: increased clinical heterogeneity. Ther Adv Neurol Disord. 2019 Jun 9;12:1756286419850433. doi: 10.1177/1756286419850433. eCollection 2019. PubMed PMID: 31217819; PubMed Central PMCID: PMC6558532.
2019
31217819item
32Anheim M, Lagier-Tourenne C, Stevanin G, Fleury M, Durr A, Namer IJ, Denora P, Brice A, Mandel JL, Koenig M and Tranchant C. SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. J Neurol 2009;256:104-8.
2009
19224311item
33Anheim, M., Monga, B., Fleury, M., Charles, P., Barbot, C., Salih, M., Delaunoy, J. P., Fritsch, M., Arning, L., Synofzik, M., Schols, L., Sequeiros, J., and 23 others. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain 132: 2688-2698, 2009.
2009
19696032item
34Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May;72(5):1293-9. Epub 2003 Apr 10.
2003
12690580item
35Antonicka, H.; Mattman, A.; Carlson, C. G.; Glerum, D. M.; Hoffbuhr, K. C.; Leary, S. C.; Kennaway, N. G.; Shoubridge, E. A. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am. J. Hum. Genet. 72: 101-114, 2003.
2003
12474143item
item
item
36Anttonen AK, Mahjneh I, Hamalainen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet. 2005 Dec;37(12):1309-11. Epub 2005 Nov 13.
2005
16282978item
37Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Ha²Øssaguerre M, Schimpf R, Borggrefe M, Wolpert C. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007 Jan 30;115(4):442-9. Epub 2007 Jan 15.
2007
17224476item
item
38Aoyama, T.; Souri, M.; Ueno, I.; Kamijo, T.; Yamaguchi, S.; Rhead, W. J.; Tanaka, K.; Hashimoto, T. : Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Am. J. Hum. Genet. 57: 273-283, 1995.
1995
7668252item
39Aoyama, T.; Uchida, Y.; Kelley, R. I.; Marble, M.; Hofman, K.; Tonsgard, J. H.; Rhead, W. J.; Hashimoto, T. : A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem. Biophys. Res. Commun. 191: 1369-1372, 1993.
1993
8466512item
40Ardicli D, Sarkozy A, Zaharieva I, Deshpande C, Bodi I, Siddiqui A, U-King-Im JM, Selfe A, Phadke R, Jungbluth H, Muntoni F. A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement. Neuromuscul Disord. 2019 Jun;29(6):448-455. doi: 10.1016/j.nmd.2019.03.011. Epub 2019 Mar 27.
2019
31130378item
item
41Arimura T, Bos JM, Sato A, Kubo T, Okamoto H, Nishi H, Harada H, Koga Y, Moulik M, Doi YL, Towbin JA, Ackerman MJ, Kimura A. Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2009 Jul 21;54(4):334-42.
2009
19608031item
42Arimura, T.; Hayashi, T.; Terada, H.; Lee, S.-Y.; Zhou, Q.; Takahashi, M.; Ueda, K.; Nouchi, T.; Hohda, S.; Shibutani, M.; Hirose, M.; Chen, J.; Park, J.-E.; Yasunami, M.; Hayashi, H.; Kimura, A. : A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J. Biol. Chem. 279: 6746-6752, 2004.
2004
14660611item
43Arndt, A.-K., Schafer, S., Drenckhahn, J.-D., Sabeh, M. K., Plovie, E. R., Caliebe, A., Klopocki, E., Musso, G., Werdich, A. A., Kalwa, H., Heinig, M., Padera, R. F., and 13 others. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am. J. Hum. Genet. 93: 67-77, 2013.
2013
23768516item
item
44Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2007 Nov;81(5):964-73. Epub 2007 Sep 28.
2007
17924338item
45Aslanidis, C.; Jansen, G.; Amemiya, C.; Shutler, G.; Mahadevan, T.; Tsilfidis, C.; Chen, C.; Alleman, J.; Wormskamp, N. G. M.; Vooijs, M.; Buxton, J.; Johnson, K.; Smeets, H. J. M.; Lennon, G. G.; Carrano, A. V.; Korneluk, R. G.; Wieringa, B.; de Jong, P. J. : Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355: 548-551, 1992.
1992
1346925 item
46Assoum, M., Salih, M. A., Drouot, N., H'Mida-Ben Brahim, D., Lagier-Tourenne, C., AlDrees, A., Elmalik, S. A., Ahmed, T. S., Seidahmed, M. Z., Kabiraj, M. M., Koenig, M. Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. Brain 133: 2439-2447, 2010.
2010
20826435item
47Atkinson D., Nikodinovic Glumac J., Asselbergh B., Ermanoska B., Blocquel D., Steiner R., et al. Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy. Neurology. 2017 Feb 7;88(6):533-542.
2017
28077491item
item
48Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, Glick B, Nevo Y, Ben-Neriah Z and Melki J. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet 2009;18:3462-9.
2009
19542096item
49Auburger G, Diaz GO, Capote RF, Sanchez SG, Perez MP, del Cueto ME, Meneses MG, Farrall M, Williamson R, Chamberlain S, et al. Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population. Am J Hum Genet. 1990 Jun;46(6):1163-77.
1990
1971152item
50Auer-Grumbach M, Weger M, Fink-Puches R, Papi? L, Fröhlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhüttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C. Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain. 2011 Jun;134(Pt 6):1839-52. Epub 2011 May 15
2011
21576112item
51Auer-Grumbach, M., Olschewski, A., Papic, L., Kremer, H., McEntagart, M. E., Uhrig, S., Fischer, C., Frohlich, E., Balint, Z., Tang, B., Strohmaier, H., Lochmuller, H., and 13 others Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nature Genet. 42: 160-164, 2010.
2010
20037588item
item
52Auer-Grumbach, M.; Strasser-Fuchs, S.; Robl, T.; Windpassinger, C.; Wagner, K. : Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. Neurology 61: 1435-1437, 2003. Note: Erratum: Neurology 62: 678 only, 2004.
2004
14638973item
53Awad, M. M.; Dalal, D.; Cho, E.; Amat-Alarcon, N.; James, C.; Tichnell, C.; Tucker, A.; Russell, S. D.; Bluemke, D. A.; Dietz, H. C.; Calkins, H.; Judge, D. P. : DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am. J. Hum. Genet. 79: 136-142, 2006.
2006
1677357item
54Azibi K, Bachner L, Beckmann JS, Matsumura K, Hamouda E, Chaouch M, Chaouch A, Ait-Ouarab R, Vignal A, Weissenbach J, et al. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. Hum Mol Genet. 1993 Sep;2(9):1423-8.
1993
8242065item
55Azzedine H, Bolino A, Ta²Øeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet. 2003 May;72(5):1141-53. Epub 2003 Apr 8.
2003
12687498item
56Azzedine, H., Zavadakova, P., Plante-Bordeneuve, V., Vaz Pato, M., Pinto, N., Bartesaghi, L., Zenker, J., Poirot, O., Bernard-Marissal, N., Arnaud Gouttenoire, E., Cartoni, R., Title, A., and 18 others. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum. Molec. Genet. 22: 4224-4232, 2013.
2013
23777631item
57Bakalkin, G., Watanabe, H., Jezierska, J., Depoorter, C., Verschuuren-Bemelmans, C., Bazov, I., Artemenko, K. A., Yakovleva, T., Dooijes, D., Van de Warrenburg, B. P. C., Zubarev, R. A., Kremer, B., Knapp, P. E., Hauser, K. F., Wijmenga, C., Nyberg, F., Sinke, R. J., Verbeek, D. S. Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. Am. J. Hum. Genet. 87: 593-603, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 736 only, 2010.
2010
21035104item
58Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord. 2005 Apr;15(4):271-5.
2005
15792865item
59Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet. 1994 Aug;7(4):513-20.
1994
7951322item
60Bannwarth, S., Ait-El-Mkadem, S., Chaussenot, A., Genin, E. C., Lacas-Gervais, S., Fragaki, K., Berg-Alonso, L., Kageyama, Y., Serre, V., Moore, D. G., Verschueren, A., Rouzier, C., and 11 others. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain 137: 2329-2345, 2014.
2014
24934289item
61Banwell BL, Russel J, Fukudome T, Shen XM, Stilling G, Engel AG. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. J Neuropathol Exp Neurol. 1999 Aug;58(8):832-46.
1999
10446808item
62Bao, Y.; Kishnani, P.; Wu, J.-Y.; Chen, Y.-T. : Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J. Clin. Invest. 97: 941-948, 1996.
1996
8613547item
63Baple, E. L., Chambers, H., Cross, H. E., Fawcett, H., Nakazawa, Y., Chioza, B. A., Harlalka, G. V., Mansour, S., Sreekantan-Nair, A., Patton, M. A., Muggenthaler, M., Rich, P., and 10 others. Hypomorphic PCNA mutation underlies a human DNA repair disorder. J. Clin. Invest. 124: 3137-3146, 2014.
2014
24911150item
64Barhoumi, C.; Amouri, R.; Ben Hamida, C.; Ben Hamida, M.; Machghoul, S.; Gueddiche, M.; Hentati, F. : Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. Neuromusc. Disord. 11: 27-34, 2001.
2001
11166163item
65Barone, R., Aiello, C., Race, V., Morava, E., Foulquier, F., Riemersma, M., Passarelli, C., Concolino, D., Carella, M., Santorelli, F., Vleugels, W., Mercuri, E., and 9 others. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann. Neurol. 72: 550-558, 2012.
2012
23109149item
item
66Baruffini, E., Dallabona, C., Invernizzi, F., Yarham, J. W., Melchionda, L., Blakely, E. L., Lamantea, E., Donnini, C., Santra, S., Vijayaraghavan, S., Roper, H. P., Burlina, A., and 9 others. MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum. Mutat. 34: 1501-1509, 2013.
2013
23929671item
67Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet. 1998 Sep;20(1):37-42.
1998
9731527item
68Bashir R, Strachan T, Keers S, Stephenson A, Mahjneh I, Marconi G, Nashef L, Bushby KM. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet. 1994 Mar;3(3):455-7.
1994
8012357item
69Bauche, S., O'Regan, S., Azuma, Y., Laffargue, F., McMacken, G., Sternberg, D., Brochier, G., Buon, C., Bouzidi, N., Topf, A., Lacene, E., Remerand, G., and 30 others. Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea. Am. J. Hum. Genet. 99: 753-761, 2016.
2016
27569547item
70Bauer, P., Leshinsky-Silver, E., Blumkin, L., Schlipf, N., Schroder, C., Schicks, J., Lev, D., Riess, O., Lerman-Sagie, T., Schols, L.Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47). Neurogenetics 13: 73-76, 2012
2012
22290197item
71Baumann, M., Schreiber, H., Schlotter-Weigel, B., Loscher, W. N., Stucka, R., Karall, D., Strom, T. M., Bauer, P., Krabichler, B., Fauth, C., Glaeser, D., Senderek, J. MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. Clin. Genet. 95: 182-186, 2019.
2019
30298599item
72Baxter, R. V.; Ben Othmane, K.; Rochelle, J. M.; Stajich, J. E.; Hulette, C.; Dew-Knight, S.; Hentati, F.; Ben Hamida, M.; Bel, S.; Stenger, J. E.; Gilbert, J. R.; Pericak-Vance, M. A.; Vance, J. M. : Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nature Genet. 30: 21-22, 2002.
2002
11743579item
item
item
item
73Bayat, V., Thiffault, I., Jaiswal, M., Tetreault, M., Donti, T., Sasarman, F., Bernard, G., Demers-Lamarche, J., Dicaire, M.-J., Mathieu, J., Vanasse, M., Bouchard, J.-P., Rioux, M.-F., Lourenco, C. M., Li, Z., Haueter, C., Shoubridge, E. A., Graham, B. H., Brais, B., Bellen, H. J. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. PLos Biol. 10: e1001288, 2012. Note: Electronic Article.
2012
22448145item
74Beckmann JS, Richard I, Hillaire D, Broux O, Antignac C, Bois E, Cann H, Cottingham RW Jr, Feingold N, Feingold J, et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci III. 1991;312(4):141-8.
1991
1901754item
75Beeson, D.; Higuchi, O.; Palace, J.; Cossins, J.; Spearman, H.; Maxwell, S.; Newsom-Davis, J.; Burke, G.; Fawcett, P.; Motomura, M.; M²ºller, J. S.; Lochm²ºller, H.; Slater, C.; Vincent, A.; Yamanashi, Y. : Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 313: 1975-1978, 2006.
2006
16917026item
76Beetz, C., Johnson, A., Schuh, A. L. et al. 2013. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proc. Nat. Acad. Sci. 110: 5091-5096.
2013
23479643item
item
item
item
77Beetz, C., Pieber, T. R., Hertel, N., Schabhuttl, M., Fischer, C., Trajanoski, S., Graf, E., Keiner, S., Kurth, I., Wieland, T., Varga, R.-E., Timmerman, V., Reilly, M. M., Strom, T. M., Auer-Grumbach, M. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am. J. Hum. Genet. 91: 139-145, 2012.
2012
22703882item
78Beffagna, G.; Occhi, G.; Nava, A.; Vitiello, L.; Ditadi, A.; Basso, C.; Bauce, B.; Carraro, G.; Thiene, G.; Towbin, J. A.; Danieli, G. A.; Rampazzo, A. : Regulatory mutations in transforming growth factor-beta-3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc. Res. 65: 366-373, 2005.
2005
15639475item
79Beijer D, Deconinck T, De Bleecker JL, Dotti MT, Malandrini A, Urtizberea JA, Zulaica M, López de Munain A, Asselbergh B, De Jonghe P, Baets J. Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. Brain. 2019 Jul 22. pii: awz216. doi: 10.1093/brain/awz216.
2019
31332438item
80Bejaoui K, Hirabayashi K, Hentati F, Haines JL, Ben Hamida C, Belal S, Miller RG, McKenna-Yasek D, Weissenbach J, Rowland LP, et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology. 1995 Apr;45(4):768-72.
1995
7723968item
81Bejaoui, K.; Wu, C.; Scheffler, M. D.; Haan, G.; Ashby, P.; Wu, L.; de Jong, P.; Brown, R. H., Jr. : SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nature Genet. 27: 261-262, 2001
2001
11242106item
item
82Belaya K., Rodriguez Cruz P.M., Liu W.W., et al. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain 2015;138:2493–504
2015
26133662item
83Belaya, K., Finlayson, S., Slater, C. R., Cossins, J., Liu, W. W., Maxwell, S., McGowan, S. J., Maslau, S., Twigg, S. R. F., Walls, T. J., Pascual Pascual, S. I., Palace, J., Beeson, D. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am. J. Hum. Genet. 91: 193-201, 2012.
2012
22742743item
84Bellocq, C.; van Ginneken, A. C. G.; Bezzina, C. R.; Alders, M.; Escande, D.; Mannens, M. M. A. M.; Baro, I.; Wilde, A. A. M. : Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation 109: 2394-2397, 2004.
2004
15159330item
85Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004 May;41(5):e61.
2004
15121789item
item
86Beltran-Valero de Bernabe, D.; Currier, S.; Steinbrecher, A.; Celli, J.; van Beusekom, E.; van der Zwaag, B.; Kayserili, H.; Merlini, L.; Chitayat, D.; Dobyns, W. B.; Cormand, B.; Lehesjoki, A.-E.; Cruces, J.; Voit, T.; Walsh, C. A.; van Bokhoven, H.; Brunner, H. G. : Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am. J. Hum. Genet. 71: 1033-1043, 2002.
2002
12369018item
87Ben Hamida C, Cavalier L, Belal S, Sanhaji H, Nadal N, Barhoumi C, M'Rissa N, Marzouki N, Mandel JL, Ben Hamida M, Koenig M, Hentati F. Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. Neurogenetics. 1997 Sep;1(2):129-33.
1997
10732815item
88Ben Hamida C, Doerflinger N, Belal S, Linder C, Reutenauer L, Dib C, Gyapay G, Vignal A, Le Paslier D, Cohen D, et al. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet. 1993 Oct;5(2):195-200.
1993
8252047item
89Ben Othmane K, Ben Hamida M, Pericak-Vance MA, Ben Hamida C, Blel S, Carter SC, Bowcock AM, Petruhkin K, Gilliam TC, Roses AD, et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet. 1992 Dec;2(4):315-7.
1992
1303286item
90Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD, Pericak-Vance MA, Ben Hamida M, Vance JM. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet. 1993 Oct;2(10):1625-8.
1993
8268915item
91Ben Othmane K, Middleton LT, Loprest LJ, Wilkinson KM, Lennon F, Rozear MP, Stajich JM, Gaskell PC, Roses AD, Pericak-Vance MA, et al. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics. 1993 Aug;17(2):370-5.
1993
8406488item
92Beninca C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, J Robinson A, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, S F Santos ML, R de Souza RL, Fernandez-Vizarra E, J Whitworth A, Zeviani M. Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. J Med Genet. 2021 Mar;58(3):155-167. doi: 10.1136/jmedgenet-2020-106861. Epub 2020 May 21. PMID: 32439808; PMCID: PMC7116790.
2020
32439808item
93Benjamin, E. J.; Rice, K. M.; Arking, D. E.; Pfeufer, A.; van Noord, C.; Smith, A. V.; Schnabel, R. B.; Bis, J. C.; Boerwinkle, E.; Sinner, M. F.; Dehghan, A.; Lubitz, S. A.; and 44 others. Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nature Genet. 41: 879-881, 2009
2009
19597492item
94Benomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, Ouhabi H, Martin JJ, Durr A, Zaim A, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet. 1995 May;10(1):84-8.
1995
7647798item
95Benson, D. W.; Wang, D. W.; Dyment, M.; Knilans, T. K.; Fish, F. A.; Strieper, M. J.; Rhodes, T. H.; George, A. L., Jr. : Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J. Clin. Invest. 112: 1019-1028, 2003.
2003
14523039item
item
item
96Berciano, J., Peeters, K., Garcia, A., Lopez-Alburquerque, T., Gallardo, E., Hernandez-Fabian, A., Pelayo-Negro, A. L., De Vriendt, E., Infante, J., Jordanova, A. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. J. Neurol. 263: 361-369, 2016.
2016
26645395item
97Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993 Dec 24;262(5142):2039-42.
1993
8266101item
98Betz, R. C.; Schoser, B. G. H.; Kasper, D.; Ricker, K.; Ramirez, A.; Stein, V.; Torbergsen, T.; Lee, Y.-A.; Nothen, M. M.; Wienker, T. F.; Malin, J.-P.; Propping, P.; Reis, A.; Mortier, W.; Jentsch, T. J.; Vorgerd, M.; Kubisch, C. : Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nature Genet. 28: 218-219, 2001.
2001
11431690item
99Bezzina, C.; Veldkamp, M. W.; van den Berg, M. P.; Postma, A. V.; Rook, M. B.; Viersma, J.-W.; van Langen, I. M.; Tan-Sindhunata, G.; Bink-Boelkens, M. T. E.; van der Hout, A. H.; Mannens, M. M. A. M.; Wilde, A. A. M. : A single Na+ channel mutation causing both long-QT and Brugada syndromes. Circ. Res. 85: 1206-1213, 1999.
1999
10590249item
100Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli F, Minetti C and Bruno C. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. BBRC 2007;in press
2007
17923109item
101Biancheri, R., Ciccolella, M., Rossi, A., Tessa, A., Cassandrini, D., Minetti, C., Santorelli, F. M. White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. Neuromusc. Disord. 19: 62-65, 2009.
2009
19187859item
102Bienengraeber, M.; Olson, T. M.; Selivanov, V. A.; Kathmann, E. C.; O'Cochlain, F.; Gao, F.; Karger, A. B.; Ballew, J. D.; Hodgson, D. M.; Zingman, L. V.; Pang, Y.-P.; Alekseev, A. E.; Terzic, A. : ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic K(ATP) channel gating. Nature Genet. 36: 382-387, 2004.
2004
15034580item
103Bilguvar, K., Tyagi, N. K., Ozkara, C., Tuysuz, B., Bakircioglu, M., Choi, M., Delil, S., Caglayan, A. O., Baranoski, J. F., Erturk, O., Yalcinkaya, C., Karacorlu, M., and 9 others. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc. Nat. Acad. Sci. 110: 3489-3494, 2013.
2013
23359680item
104Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet. 1996 Apr;12(4):385-9.
1996
8630491item
105Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994 Dec;8(4):323-7.
1994
7894480item
106Bione S, Small K, Aksmanovic VM, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JR, Warren ST, et al. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet. 1995 Oct;4(10):1859-63.
1995
8595407item
107Bird TD, Ott J, Giblett ER. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet. 1982 May;34(3):388-94.
1982
6952764item
108Birouk, N.; Azzedine, H.; Dubourg, O.; Muriel, M.-P.; Benomar, A.; Hamadouche, T.; Maisonobe, T.; Ouazzani, R.; Brice, A.; Yahyaoui, M.; Chkili, T.; LeGuern, E. : Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. Arch. Neurol. 60: 598-604, 2003.
2003
12707075item
109Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, De Bonis P, Artuso L, Copetti M, Santorelli FM, Serlenga L, Zelante L, Bertini E, Petruzzella V. A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. Eur J Hum Genet. 2010 Jun;18(6):636-41. Epub 2010 Jan 13
2010
20068593item
item
110Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, Laforet P, Martin JJ, Laporte J, Lochmuller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet. 2005 Nov;37(11):1207-9. Epub 2005 Oct 16.
2005
16227997item
item
111Bitoun, M., Bevilacqua, J. A., Eymard, B., Prudhon, B., Fardeau, M., Guicheney, P., Romero, N. B. A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. Neurology 72: 93-95, 2009.
2009
19122038item
112Blair, E.; Redwood, C.; Ashrafian, H.; Oliveira, M.; Broxholme, J.; Kerr, B.; Salmon, A.; Ostman-Smith, I.; Watkins, H. : Mutations in the gamma-2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum. Molec. Genet. 10: 1215-1220, 2001.
2001
11371514item
113Blumen, S. C., Astord, S., Robin, V., Vignaud, L., Toumi, N., Cieslik, A., Achiron, A., Carasso, R. L., Gurevich, M., Braverman, I., Blumen, N., Munich, A., Barkats, M., Viollet, L. A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. Ann. Neurol. 71: 509-519, 2012.
2012
22522442item
item
114Blumen, S. C.; Bevan, S.; Abu-Mouch, S.; Negus, D.; Kahana, M.; Inzelberg, R.; Mazarib, A.; Mahamid, A.; Carasso, R. L.; Slor, H.; Withers, D.; Nisipeanu, P.; Navon, R.; Reid, E. : A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Ann. Neurol. 54: 796-803, 2003.
2003
14681889item
115Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan C, Liebert CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO, et al. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet. 1993 Jun;4(2):160-4.
1993
8102296item
item
116Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E. A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. J Neurol Sci. 2011 Jun 15;305(1-2):67-70. Epub 2011 Mar 25.
2011
21440262item
item
item
117Boczonadi, V., Muller, J. S., Pyle, A., Munkley, J., Dor, T., Quartararo, J., Ferrero, I., Karcagi, V., Giunta, M., Polvikoski, T., Birchall, D., Princzinger, A., and 15 others. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nature Commun. 5: 4287, 2014. Note: Electronic Article.
2014
24989451item
118Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb;68(2):325-33. Epub 2000 Dec 15. Erratum in: Am J Hum Genet 2001 Feb;68(2):557.
2000
11133365item
item
119Boerkoel, C. F.; Takashima, H.; Garcia, C. A.; Olney, R. K.; Johnson, J.; Berry, K.; Russo, P.; Kennedy, S.; Teebi, A. S.; Scavina, M.; Williams, L. L.; Mancias, P.; Butler, I. J.; Krajewski, K.; Shy, M.; Lupski, J. R. : Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann. Neurol. 51: 190-201, 2002.
2002
11835375item
120Bogershausen, N., Shahrzad, N., Chong, J. X., von Kleist-Retzow, J.-C., Stanga, D., Li, Y., Bernier, F. P., Loucks, C. M., Wirth, R., Puffenberger, E. G., Hegele, R. A., Schreml, J., and 22 others. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am. J. Hum. Genet. 93: 181-190, 2013.
2013
23830518item
item
121Bohlega, S.; Abu-Amero, S. N.; Wakil, S. M.; Carroll, P.; Al-Amr, R.; Lach, B.; Al-Sayed, Y.; Cupler, E. J.; Meyer, B. F. : Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology 62: 1518-1521, 2004.
2004
15136674item
122Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, Carrière N, Clavelou P, Eymard B, Bitoun M, Rendu J, Fauré J, Weis J, Mandel JL, Romero NB, Laporte J. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain. 2014 Sep 25. pii: awu272.
2014
25260562item
123Böhm J, Malfatti E, Oates E, Jones K, Brochier G, Boland A, Deleuze JF, Romero NB, Laporte J. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. J Med Genet. 2019 Sep;56(9):617-621. doi: 10.1136/jmedgenet-2018-105390. Epub 2018 Oct 16. PubMed PMID: 30327447.
2019
30327447item
124Bohm, J., Chevessier, F., Maues De Paula, A., Koch, C., Attarian, S., Feger, C., Hantai, D., Laforet, P., Ghorab, K., Vallat, J.-M., Fardeau, M., Figarella-Branger, D., and 9 others. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am. J. Hum. Genet. 92: 271-278, 2013.
2013
23332920item
125Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet. 2010 Feb 12;86(2):213-21. Epub 2010 Jan 21.
2010
20096397item
item
126Bolhuis PA, Hensels GW, Hulsebos TJ, Baas F, Barth PG. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am J Hum Genet. 1991 Mar;48(3):481-5.
1991
1998334item
127Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet. 1996 Jul;5(7):1051-4.
1996
8817346item
128Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet. 2000 May;25(1):17-9.
2000
10802647item
129Bomont, P.; Cavalier, L.; Blondeau, F.; Ben Hamida, C.; Belal, S.; Tazir, M.; Demir, E.; Topaloglu, H.; Korinthenberg, R.; Tuysuz, B.; Landrieu, P.; Hentati, F.; Koenig, M. : The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nature Genet. 26: 370-374, 2000.
2000
11062483item
130Bomont, P.; Watanabe, M.; Gershoni-Barush, R.; Shizuka, M.; Tanaka, M.; Sugano, J.; Guiraud-Chaumeil, C.; Koenig, M. : Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Europ. J. Hum. Genet. 8: 986-990, 2000.
2000
11175288item
131Bone, L. J.; Dahl, N.; Lensch, M. W.; Chance, P. F.; Kelly, T.; Le Guern, E.; Magi, S.; Parry, G.; Shapiro, H.; Wang, S.; Fischbeck, K. H. : New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurology 45: 1863-1866, 1995.
1995
7477983item
132Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, Gautel M, Labeit S, James M, Beckmann J, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet. 1995 Dec;11(4):438-40.
1995
7493026item
133Bonne GB, DiBarletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21:285-288.
1999
10080180item
134Bonnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan DJ, Angelini C, Hoffman EP. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet. 1995 Nov;11(3):266-73. Erratum in: Nat Genet 1996 Jan;12(1):110.
1996
7581449item
135Bonnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sa Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM. Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet. 1996 Dec;5(12):1953-61.
1996
8968749item
136Bonnen, P. E., Yarham, J. W., Besse, A., Wu, P., Faqeih, E. A., Al-Asmari, A. M., Saleh, M. A. M., Eyaid, W., Hadeel, A., He, L., Smith, F., Yau, S., and 10 others. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am. J. Hum. Genet. 93: 471-481, 2013. Note: Erratum: Am. J. Hum. Genet. 93: 773 only, 2013.
2013
23993193item
137Bonnin, E., Cabochette, P., Filosa, A., Juhlen, R., Komatsuzaki, S., Hezwani, M., Dickmanns, A., Martinelli, V., Vermeersch, M., Supply, L., Martins, N., Pirenne, L., and 14 others. Bilallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. PLoS Genet. 14: e1007845, 2018. Note: Electronic Article. [PubMed: 30543681
2018
30543681item
138Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. PMID: 33855352.
2021
33855352item
139Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis. 2011 Feb;34(1):159-64. Epub 2010 Nov 26.
2010
21110228item
item
140Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, Melancon SB. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul Disord. 1998 Oct;8(7):474-9.
1998
9829277item
item
item
141Bouhouche A, Benomar A, Birouk N, Mularoni A, Meggouh F, Tassin J, Grid D, Vandenberghe A, Yahyaoui M, Chkili T, Brice A, LeGuern E. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. Am J Hum Genet. 1999 Sep;65(3):722-7.
1999
10441578item
142Bouhouche A., Benomar N., Bouslam N. Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p12.31-14.1. Eur J Hum Genet 2006a;14:249– 52.
2006
16333315item
143Bouhouche A., Benomar N., Bouslam N. Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia. J Med Genet 2006b;43:441–3.
2006
16399879item
144Boukhris, A., Feki, I., Elleuch, N., Miladi, M. I., Boland-Auge, A., Truchetto, J., Mundwiller, E., Jezequel, N., Zelenika, D., Mhiri, C., Brice, A., Stevanin, G. A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. Neurogenetics 11: 441-448, 2010
2010
20593214item
145Boukhris, A., Schule, R., Loureiro, J. L., Lourenco, C. M., Mundwiller, E., Gonzalez, M. A., Charles, P., Gauthier, J., Rekik, I., Acosta Lebrigio, R. F., Gaussen, M., Speziani, F., and 21 others. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am. J. Hum. Genet. 93: 118-123, 2013.
2013
23746551item
146Bourassa, C. V., Meijer, I. A., Merner, N. D., Grewal, K. K., Stefanelli, M. G., Hodgkinson, K., Ives, E. J., Pryse-Phillips, W., Jog, M., Boycott, K., Grimes, D. A., Goobie, S., Leckey, R., Dion, P. A., Rouleau, G. A. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am. J. Hum. Genet. 91: 548-552, 2012.
2012
22958904item
147Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rotig A. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007;39:776-780.
2007
17486094item
item
item
item
148Bouslam N, Bouhouche A, Benomar A, Hanein S, Klebe S, Azzedine H, Di Giandomenico S, Boland-Auge A, Santorelli FM, Durr A, Brice A, Yahyaoui M and Stevanin G. A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Hum Genet 2007;121:413-20.
2007
17273843item
149Bouslam, N.; Benomar, A.; Azzedine, H.; Bouhouche, A.; Namekawa, M.; Klebe, S.; Charon, C.; Durr, A.; Ruberg, M.; Brice, A.; Yahyaoui, M.; Stevanin, G. : Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann. Neurol. 57: 567-571, 2005.
2005
15786464item
150Bowles, K. R.; Gajarski, R.; Porter, P.; Goytia, V.; Bachinski, L.; Roberts, R.; Pignatelli, R.; Towbin, J. A. : Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. J. Clin. Invest. 98: 1355-1360, 1996.
1996
8823300item
151Boyden, S. E., Mahoney, L. J., Kawahara, G., Myers, J. A., Mitsuhashi, S., Estrella, E. A., Duncan, A. R., Dey, F., DeChene, E. T., Blasko-Goehringer, J. M., Bonnemann, C. G., Darras, B. T., Mendell, J. R., Lidov, H. G. W., Nishino, I., Beggs, A. H., Kunkel, L. M., Kang, P. B. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics 13: 115-124, 2012.
2012
22371254item
152Boyer, O., Nevo, F., Plaisier, E., Funalot, B., Gribouval, O., Benoit, G., Cong, E. H., Arrondel, C., Tete, M.-J., Montjean, R., Richard, L., Karras, A., and 21 others. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. New Eng. J. Med. 365: 2377-2388, 2011.
2011
22187985item
153Brahe, C.; Servidei, S.; Zappata, S.; Ricci, E.; Tonali, P.; Neri, G. : Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet 346: 741-742, 1995.
1995
7658877item
154Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, Lafreniere RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codere F, Fardeau M, Rouleau GA, Korcyn AD. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet. 1998 Feb;18(2):164-7. Erratum in: Nat Genet 1998 Aug;19(4):404. Korcyn AD[corrected to Korczyn AD].
1998
9462747item
155Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tome FM, Bouchard JP, et al. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13. Hum Mol Genet. 1995 Mar;4(3):429-34.
1995
7795598item
156Brauch KM, Karst ML, Herron KJ, de Andrade M, Pellikka PA, Rodeheffer RJ, Michels VV, Olson TM. Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. J Am Coll Cardiol. 2009 Sep 1;54(10):930-41.
2009
19712804item
157Brea-Calvo, G., Haack, T. B., Karall, D., Ohtake, A., Invernizzi, F., Carrozzo, R., Kremer, L., Dusi, S., Fauth, C., Scholl-Burgi, S., Graf, E., Ahting, U., and 18 others. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am. J. Hum. Genet. 96: 309-317, 2015.
2015
25658047item
158Breedveld, G. J.; van Wetten, B.; te Raa, G. D.; Brusse, E.; van Swieten, J. C.; Oostra, B. A.; Maat-Kievit, J. A. : A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15. (Letter) J. Med. Genet. 41: 858-866, 2004.
2004
15520412item
159Brenner, D., Muller, K., Wieland, T., Weydt, P., Bohm, S., Lule, D., Hubers, A., Neuwirth, C., Weber, M., Borck, G., Wahlqvist, M., Danzer, K. M., Volk, A. E., Meitinger, T., Strom, T. M., Otto, M., Kassubek, J., Ludolph, A. C., Andersen, P. M., Weishaupt J. H. NEK1 mutations in familial amyotrophic lateral sclerosis. Brain 139: e28, 2016. Note: Electronic Article.
2016
26945885item
160Brewer M.H, .Chaudhry R., Qi J., Kidambi A., Drew A.P., Menezes M.P., et al. Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. PLoS Genet. 2016 Jul 20;12(7):e1006177
2016
27438001item
161Brkanac, Z., Spencer, D., Shendure, J., Robertson, P. D., Matsushita, M., Vu, T., Bird, T. D., Olson, M. V., Raskind, W. H. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Am. J. Hum. Genet. 84: 692-697, 2009.
2009
19409521item
162Brkanac, Z.; Fernandez, M.; Matsushita, M.; Lipe, H.; Wolff, J.; Bird, T. D.; Raskind, W. H. : Autosomal dominant sensory/motor neuropathy with ataxia (SMNA): linkage to chromosome 7q22-q32. Am. J. Med. Genet. 114: 450-457, 2002.
2002
11992570item
163Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 08.
2001
11592034item
164Brockington M, Sewry CA, Herrmann R, Naom I, Dearlove A, Rhodes M, Topaloglu H, Dubowitz V, Voit T, Muntoni F. Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. Am J Hum Genet. 2000 Feb;66(2):428-35.
2000
10677302item
165Brockington, M., Yuva, Y., Prandini, P., Brown, S. C., Torelli, S., Benson, M. A., Herrmann, R., Anderson, L. V. B., Bashir, R., Burgunder, J.-M., Fallet, S., Romero, N., and 10 others. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum. Molec. Genet. 10: 2851-2859, 2001.
2001
11741828item
166Brodehl, A., Ferrier, R. A., Hamilton, S. J., Greenway, S. C., Brundler, M.-A., Yu, W., Gibson, W. T., McKinnon, M. L., McGillivray, B., Alvarez, N., Giuffre, M., Schwartzentruber, J., FORGE Canada Consortium, Gerull, B. Mutations in FLNC are associated with familial restrictive cardiomyopathy. Hum. Mutat. 37: 269-279, 2016.
2016
26666891item
167Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell. 1992 Apr 17;69(2):385.
1992
1568252item
168Brown, B. I.; Brown, D. H. : Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. Proc. Nat. Acad. Sci. 56: 725-729, 1966.
1966
5229990item
169Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet. 1994 Oct;8(2):136-40.
1994
7842011item
170Brownlees, J.; Ackerley, S.; Grierson, A. J.; Jacobsen, N. J. O.; Shea, K.; Anderton, B. H.; Leigh, P. N.; Shaw, C. E.; Miller, C. C. J. : Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. Hum. Molec. Genet. 11: 2837-2844, 2002.
2002
12393795item
171Brownlow, S.; Webster, R.; Croxen, R.; Brydson, M.; Neville, B.; Lin, J.-P.; Vincent, A.; Newsom-Davis, J.; Beeson, D. : Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. J. Clin. Invest. 108: 125-130, 2001.
2001
11435464item
item
172Brugada, R.; Hong, K.; Dumaine, R.; Cordeiro, J.; Gaita, F.; Borggrefe, M.; Menendez, T. M.; Brugada, J.; Pollevick, G. D.; Wolpert, C.; Burashnikov, E.; Matsuo, K.; Wu, Y. S.; Guerchicoff, A.; Bianchi, F.; Giustetto, C.; Schimpf, R.; Brugada, P.; Antzelevitch, C. : Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation 109: 30-35, 2004.
2004
14676148item
173Brugada, R.; Tapscott, T.; Czernuszewicz, G. Z.; Marian, A. J.; Iglesias, A.; Mont, L.; Brugada, J.; Girona, J.; Domingo, A.; Bachinski, L. L.; Roberts, R. : Identification of a genetic locus for familial atrial fibrillation. New Eng. J. Med. 336: 905-911, 1997.
1997
9070470item
174Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffr²® B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology. 2004 Sep 28;63(6):1053-8.
2004
15452297item
175Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KC, Daniels R, Davies KE, Leppert M, Ziter F, Wood D, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 1990 Apr 5;344(6266):540-1.
1990
2320125item
176Bucelli, R. C., Arhzaouy, K., Pestronk, A., Pittman, S. K., Rojas, L., Sue, C. M., Evila, A., Hackman, P., Udd, B., Harms, M. B., Weihl, C. C. SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. Neurology 85: 665-674, 2015.
2015
26208961item
item
177Buchert, R., Uebe, S., Radwan, F., Tawamie, H., Issa, S., Shimazaki, H., Henneke, M., Ekici, A. B., Reis, A., Abou Jamra, R. Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation. Europ. J. Med. Genet. 56: 599-602, 2013.
2013
24080142item
178Bugiardini E, Mitchell AL, Rosa ID, Horning-Do HT, Pitmann A, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A. MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Hum Mol Genet. 2019 Apr 30. pii: ddz093. doi: 10.1093/hmg/ddz093.
2019
31039582item
179Bulman DE, Scoggan KA, van Oene MD, Nicolle MW, Hahn AF, Tollar LL, Ebers GC. A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology. 1999 Dec 10;53(9):1932-6.
1999
10599760item
180Burghes AH, Logan C, Hu X, Belfall B, Worton RG, Ray PN. A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature. 1987 Jul 30-Aug 5;328(6129):434-7.
1987
3614347item
181Burmeister, M.; Li, S.; Leigh, R. J.; Bespalova, I. N.; Weber, J.; Swartz, B. : A new recessive syndrome of cerebellar ataxia with saccadic intrusions maps to 1p36. (Abstract) Am. J. Hum. Genet. 71 (suppl.): A528 only, 2002.
2002
Abstractitem
182Burns, R., Majczenko, K., Xu, J., Peng, W., Yapici, Z., Dowling, J. J., Li, J. Z., Burmeister, M. Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. Neurology 83: 2175-2182, 2014.
2014
25361784item
183Burwinkel, B., Scott, J. W., Buhrer, C., van Landeghem, F. K. H., Cox, G. F., Wilson, C. J., Hardie, D. G., Kilimann, M. W. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma-2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am. J. Hum. Genet. 76: 1034-1049, 2005.
2005
15877279item
184Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Burglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, et al. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet. 1995 Nov;11(3):335-7.
1995
7581461item
185Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, de Jong P, Jansen G, Anvret M, Riley B, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature. 1992 Feb 6;355(6360):547-8.
1992
1346924item
186Buysse, K., Riemersma, M., Powell, G., van Reeuwijk, J., Chitayat, D., Roscioli, T., Kamsteeg, E.-J., van den Elzen, C., van Beusekom, E., Blaser, S., Babul-Hirji, R., Halliday, W., Wright, G. J., Stemple, D. L., Lin, Y.-Y., Lefeber, D. J., van Bokhoven, H. Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum. Molec. Genet. 22: 1746-1754, 2013.
2013
23359570item
187Bykhovskaya, Y., Casas, K., Mengesha, E., Inbal, A., Fischel-Ghodsian, N. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am. J. Hum. Genet. 74: 1303-1308, 2004.
2004
15108122item
188Cadieux-Dion, M., Turcotte-Gauthier, M., Noreau, A., Martin, C., Meloche, C., Gravel, M., Drouin, C. A., Rouleau, G. A., Nguyen, D. K., Cossette, P. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA Neurol. 71: 470-475, 2014.
2014
24566826item
189Cagnoli, C.; Mariotti, C.; Taroni, F.; Seri, M.; Brussino, A.; Michielotto, C.; Grisoli, M.; Di Bella, D.; Migone, N.; Gellera, C.; Di Donato, S.; Brusco, A. : SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain 129: 235-242, 2006.
2006
16251216item
190Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu ML, Pepe G. Related Articles, Links Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7516-21. Epub 2001 May 29.
2001
11381124item
191Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, et al. Related Articles, Links Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996 Mar 8;271(5254):1423-7.
1996
8596916item
192Carballo S, Robinson P, Otway R, Fatkin D, Jongbloed JD, de Jonge N, Blair E, van Tintelen JP, Redwood C, Watkins H. Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. Circ Res. 2009 Aug 14;105(4):375-82. Epub 2009 Jul 9.
2009
19590045item
item
193Carbone, I.; Bruno, C.; Sotgia, F.; Bado, M.; Broda, P.; Masetti, E.; Panella, A.; Zara, F.; Bricarelli, F. D.; Cordone, G.; Lisanti, M. P.; Minetti, C. : Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology 54: 1373-1376, 2000.
2000
10746614 item
194Carmignac V, Salih M A, Quijano-Roy S, Marchand S, Al Rayess M M, Mukhtar M M, Urtizberea J A, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell K P, Richard I, Estournet B, Ferreiro A. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 2007; 61: 340-51.
2007
17444505item
195Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, Graw SL, Feiger J, Zhu XZ, Dao D, Ferguson DA, Bristow MR, Mestroni L. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation. 2005 Jul 5;112(1):54-9.
2005
15998695item
item
item
item
196Carrie A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat JM, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tome FM, Fardeau M, Sunada Y, Campbell KP, Kaplan JC, Jeanpierre M. Related Articles, Links Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet. 1997 Jun;34(6):470-5.
1997
9192266item
197Carrier L, Hengstenberg C, Beckmann JS, Guicheney P, Dufour C, Bercovici J, Dausse E, Berebbi-Bertrand I, Wisnewsky C, Pulvenis D, et al. Related Articles, Links Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nat Genet. 1993 Jul;4(3):311-3.
1993
8358441item
198Carroll, C. J., Isohanni, P., Poyhonen, R., Euro, L., Richter, U., Brilhante, V., Gotz, A., Lahtinen, T., Paetau, A., Pihko, H., Battersby, B. J., Tyynismaa, H., Suomalainen, A. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. J. Med. Genet. 50: 151-59, 2013.
2013
23315540item
199Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of ?-dystroglycan. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13.
2013
23768512item
item
item
200Carter MT, McMillan HJ, Tomin A, Weiss N. Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy. Channels (Austin). 2019 Dec;13(1):153-161. doi: 10.1080/19336950.2019.1614415.
2019
31070086item
201Casari, G.; De Fusco, M.; Ciarmatori, S.; Zeviani, M.; Mora, M.; Fernandez, P.; De Michele, G.; Filla, A.; Cocozza, S.; Marconi, R.; Durr, A.; Fontaine, B.; Ballabio, A. : Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93: 973-983, 1998.
1998
9635427item
202Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prevost C, Bouchard JP, Mathieu J, Rouleau GA. Related Articles, Links The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. Am J Hum Genet. 1996 Jan;58(1):28-34.
1996
8554065item
203Casey, J. P., Brennan, K., Scheidel, N., McGettigan, P., Lavin, P. T., Carter, S., Ennis, S., Dorkins, H., Ghali, N., Blacque, O. E., McGee, M. M., Murphy, H., Lynch, S. A. Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. Hum. Molec. Genet. 25: 1824-1835, 2016.
2016
26908619item
204Castella-Escola J, Mattei MG, Ojcius DM, Passage E, Valentin C, Cohen-Solal M. Related Articles, Links In situ mapping of the muscle-specific form of phosphoglycerate mutase gene to human chromosome 7p12-7p13. Hum Genet. 1990 Jan;84(2):210-2.
1990
2153628item
205Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, Tan E, Selcen D, Erdem-Ozdamar S, Dincer P. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. J Med Genet. 2013 Jul;50(7):437-43. doi: 10.1136/jmedgenet-2012-101487. Epub 2013 May 18.
2013
23687351item
206Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23.
2013
23975875item
207Chamberlain S, Shaw J, Rowland A, Wallis J, South S, Nakamura Y, von Gabain A, Farrall M, Williamson R. Related Articles, Links Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature. 1988 Jul 21;334(6179):248-50.
1988
2899844item
208Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD. Related Articles, Links DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 1993 Jan 15;72(1):143-51.
1993
8422677item
209Chance, P. F.; Rabin, B. A.; Ryan, S. G.; Ding, Y.; Scavina, M.; Crain, B.; Griffin, J. W.; Cornblath, D. R. : Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am. J. Hum. Genet. 62: 633-640, 1998.
1998
9497266item
210Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Müller JS, Evangelista T, Töpf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. J Neuromuscul Dis. 2014;1(1):75-90.
2014
26870663item
211Chapon, F.; Latour, P.; Diraison, P.; Schaeffer, S.; Vandenberghe, A. : Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J. Neurol. Neurosurg. Psychiat. 66: 779-782, 1999.
1999
10329755item
212Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M; FORGE Canada Consortium, Majewski J, Bulman DE, Boycott KM, Dyment DA. LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clin Genet. 2015 Dec;88(6):558-64. doi: 10.1111/cge.12561. Epub 2015 Feb 26.
2015
25589244item
item
item
item
213Chelban, V., Patel, N., Vandrovcova, J., Zanetti, M. N., Lynch, D. S., Ryten, M., Botia, J. A., Bello, O., Tribollet, E., Efthymiou, S., Davagnanam, I., SYNAPSE Study Group, Bashiri, F. A., Wood, N. W., Rothman, J. E., Alkuraya, F. S., Houlden, H. Mutations in NKX6-2 cause progressive spastic ataxia and hypomyelination. Am. J. Hum. Genet. 100: 969-977, 2017.
2017
28575651item
214Chemin, J., Siquier-Pernet, K., Nicouleau, M., Barcia, G., Ahmad, A., Medina-Cano, D., Hanein, S., Altin, N., Hubert, L., Bole-Feysot, C., Fourage, C., Nitschke, P., and 17 others. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. Brain 141: 1998-2013, 2018.
2018
29878067item
215Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009. PMID: 27259050; PMCID: PMC4908176.
2016
27259050item
216Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH. Related Articles, Links Free in PMC Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet. 2003 Apr;72(4):839-49. Epub 2003 Mar 17.
2003
12644968item
217Chen, L., Marquardt, M. L., Tester, D. J., Sampson, K. J., Ackerman, M. J., Kass, R. S. Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc. Nat. Acad. Sci. 104: 20990-20995, 2007.
2007
18093912item
218Chen, Y.-C., Auer-Grumbach, M., Matsukawa, S., Zitzelsberger, M., Themistocleous, A. C., Strom, T. M., Samara, C., Moore, A. W., Cho, L. T.-Y., Young, G. T., Weiss, C., Schabhuttl, M., and 47 others. Transcriptional regulator PRDM12 is essential for human pain perception. Nature Genet. 47: 803-808, 2015. Note: Erratum: Nature Genet. 47: 962 only, 2015.
2015
26005867item
219Chen, Y.-Z.; Bennett, C. L.; Huynh, H. M.; Blair, I. P.; Puls, I.; Irobi, J.; Dierick, I.; Abel, A.; Kennerson, M. L.; Rabin, B. A.; Nicholson, G. A.; Auer-Grumbach, M.; Wagner, K.; De Jonghe, P.; Griffin, J. W.; Fischbeck, K. H.; Timmerman, V.; Cornblath, D. R.; Chance, P. F. : DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am. J. Hum. Genet. 74: 1128-1135, 2004.
2004
15106121item
220Chervinsky E, Khayat M, Soltsman S, Habiballa H, Elpeleg O, Shalev S. A homozygous TTN gene variant associated with lethal congenital contracture syndrome. Am J Med Genet A. 2018;176(4):1001-1005. doi:10.1002/ajmg.a.38639
2018
29575618item
221Chevessier, F.; Faraut, B.; Ravel-Chapuis A., Richard, P.; Gaudon, K.; Bauch²©, S.; Prioleau, C.; Herbst, R.; Goillot, E.; Ioos, C.; Azulay, J.P.; Attarian, S.; Leroy, J.P.; Fournier, E.; Legay, C.; Schaeffer, L.; Koenig, J.; Fardeau, M.; Eymard, B.; Pouget, J.; Hanta²Ø, D. MUSK, a new target for mutations causing congenital myasthenic syndrome. J. Med. Genet. 13: 3229-3240, 2004.
2004
15496425item
222Chiu C, Bagnall RD, Ingles J, Yeates L, Kennerson M, Donald JA, Jormakka M, Lind JM, Semsarian C. Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. J Am Coll Cardiol. 2010 Mar 16;55(11):1127-35.
2010
20022194item
223Chiu, C., Tebo, M., Ingles, J., Yeates, L., Arthur, J. W., Lind, J. M., Semsarian, C. Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. J. Molec. Cell. Cardiol. 43: 337-343, 2007.
2007
17655857item
224Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Züchner S, Chung KW. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. Hum Mutat. 2011 Jun;32(6):669-77. doi: 10.1002/humu.21488. Epub 2011 Apr 7. PMID:21480433
2011
21480433item
225Choi, Y.-R., Hong, Y. B., Jung, S.-C., Lee, J. H., Kim, Y. J., Park, H. J., Lee, J., Koo, H., Lee, J.-S., Jwa, D. H., Jung, N., Woo, S.-Y., Kim, S.-B., Chung, K. W., Choi, B.-O. A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy. BMC Neurol. 15: 179, 2015. Note: Electronic Article
2015
26437932item
226Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw DM, Janssen PML; University of Washington Center for Mendelian Genomics, Amacher SL, Bamshad MJ. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. Am J Hum Genet. 2020 Aug 6;107(2):293-310. doi: 10.1016/j.ajhg.2020.06.014. Epub 2020 Jul 23. PMID: 32707087; PMCID: PMC7413889.
2020
32707087item
227Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007 Jul 5;448(7149):68-72. Epub 2007 Jun 17.
2007
17572665item
228Chow, C. Y., Landers, J. E., Bergren, S. K., Sapp, P. C., Grant, A. E., Jones, J. M., Everett, L., Lenk, G. M., McKenna-Yasek, D. M., Weisman, L. S., Figlewicz, D., Brown, R. H., Meisler, M. H. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am. J. Hum. Genet. 84: 85-88, 2009
2009
19118816item
229Christodoulou K, Deymeer F, Serdaro?lu P, Ozdemir C, Poda M, Georgiou DM, Ioannou P, Tsingis M, Zamba E, Middleton LT. Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity. Neurogenetics. 2001 Jul;3(3):127-32.
2001
11523563item
230Christodoulou K, Kyriakides T, Hristova AH, Georgiou DM, Kalaydjieva L, Yshpekova B, Ivanova T, Weber JL, Middleton LT. Related Articles, Links Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. Hum Mol Genet. 1995 Sep;4(9):1629-32.
1995
8541851item
231Christodoulou K, Tsingis M, Deymeer F, Serdaroglu P, Ozdemir C, Al-Shehab A, Bairactaris C, Mavromatis I, Mylonas I, Evoli A, Kyriallis K, Middleton LT. Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. Hum Mol Genet. 1997 Apr;6(4):635-40.
1997
9097970
232Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S, El-Khateeb M, Kyriacou K, Kyriakides T, Al-Qudah AK, Middleton L. A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12. Ann Neurol. 2000 Dec;48(6):877-84.
2000
11117544item
233Chung MY, Lu YC, Cheng NC, Soong BW. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain. 2003 Jun;126(Pt 6):1293-9.
2003
12764052item
234Chung, K. W.; Sunwoo, I. N.; Kim, S. M.; Park, K. D.; Kim, W.-K.; Kim, T. S.; Koo, H.; Cho, M.; Lee, J.; Choi, B. O. : Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. Neurogenetics 6: 159-163, 2005.
2005
15947997item
235Cirak S, von Deimling F, Sachdev S, Errington WJ, Herrmann R, B²∂nnemann C, Brockmann K, Hinderlich S, Lindner TH, Steinbrecher A, Hoffmann K, Priv²© GG, Hannink M, N²ºrnberg P, Voit T. Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. Brain. 2010 Jul;133(Pt 7):2123-35. Epub 2010 Jun 16.
2010
20554658item
236Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., Ren, Z., Keebler, J., and 60 others. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 347: 1436-1441, 2015.
2015
25700176item
237Claramunt, R., Pedrola, L., Sevilla, T., Lopez de Munain, A., Berciano, J., Cuesta, A., Sanchez-Navarro, B., Millan, J. M., Saifi, G. M., Lupski, J. R., Vilchez, J. J., Espinos, C., Palau, F. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J. Med. Genet. 42: 358-365, 2005.
2005
15805163item
238Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol. 2006 Mar;59(3):546-52.
2006
16365872item
239Clarke, N. F.; Kolski, H.; Dye, D. E.; Lim, E.; Smith, R. L. L.; Patel, R.; Fahey, M. C.; Bellance, R.; Romero, N. B.; Johnson, E. S.; Labarre-Vila, A.; Monnier, N.; Laing, N. G.; North, K. N. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann. Neurol. 63: 329-337, 2008.
2008
18300303item
240Clarke, N. F.; North, K. N. : Congenital fiber type disproportion--30 years on. J. Neuropath. Exp. Neurol. 62: 977-989, 2003.
2003
14575234item
item
241Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol. 2008 Nov;64(5):573-82.
2008
19067344item
242Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol. 2008 Jan;65(1):137-41.
2008
18195152item
243Clermont, O.; Burlet, P.; Lefebvre, S.; Burglen, L.; Munnich, A.; Melki, J. : SMN gene deletions in adult-onset spinal muscular atrophy. (Letter) Lancet 346: 1712-1713, 1995.
1995
8551862item
244Collier JJ, Guissart C, Oláhová M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schöls L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW. Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. N Engl J Med. 2021 Jun 24;384(25):2406-2417. doi: 10.1056/NEJMoa1915722. PMID: 34161705; PMCID: PMC7611730.
2021
34161705item
245Colombo, I.; Finocchiaro, G.; Garavaglia, B.; Garbuglio, N.; Yamaguchi, S.; Frerman, F. E.; Berra, B.; DiDonato, S. : Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaricacidemia type II. Hum. Molec. Genet. 3: 429-435, 1994.
1994
7912128item
246Comi, G. P.; Fortunato, F.; Lucchiari, S.; Bordoni, A.; Prelle, A.; Jann, S.; Keller, A.; Ciscato, P.; Galbiati, S.; Chiveri, L.; Torrente, Y.; Scarlato, G.; Bresolin, N. : Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Ann. Neurol. 50: 202-207, 2001.
2001
11506403item
item
247Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN. Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. Am J Hum Genet. 2008 Dec;83(6):714-24. Epub 2008 Nov 20.
2008
19026398item
248Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, ?usakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15. Erratum in: Am J Hum Genet. 2021 Jun 3;108(6):1164. PMID: 33861953; PMCID: PMC8206160.
2021
33861953item
249Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29. Erratum in: Nat Genet. 2019 May;51(5):920. PMID: 30926972; PMCID: PMC6709527.
2019
30926972item
250Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yau, W. Y., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., Ilyas, M., Tribollet, E., and 18 others. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nature Genet. 51: 649-658, 2019. Note: Erratum: Nature Genet. 51: 920 only, 2019.
2019
30926972
251Cortese, A., Tucci, A., Piccolo, G., Galimberti, C. A., Fratta, P., Marchioni, E., Grampa, G., Cereda, C., Grieco, G., Ricca, I., Pittman, A., Ciscato, P., and 9 others. Novel CLN3 mutation causing autophagic vacuolar myopathy. Neurology 82: 2072-2076, 2014.
2014
24827497item
252Cortese, A., Zhu, Y., Rebelo, A. P., Negri, S., Courel, S., Abreu, L., Bacon, C. J., Bai, Y., Bis-Brewer, D. M., Bugiardini, E., Buglo, E., Danzi, M. C., and 41 others. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genet. 52: 473-481, 2020. Note: Erratum: Nature Genet. 52: 640 only, 2020.
2020
32367058item
253Cossins J, Belaya K, Hicks D, et al. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain. 2013 Mar;136 (Pt3):944–56.
2013
23404334item
item
254Cossins J, Webster R, Maxwell S, Rodríguez Cruz PM, Knight R, Llewelyn JG, Shin JY, Palace J, Beeson D. Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission. Brain Commun. 2020 Oct 18;2(2):fcaa174. doi: 10.1093/braincomms/fcaa174. PMID: 33215087; PMCID: PMC7660151.
2020
33215087item
255Coste, B., Houge, G., Murray, M. F., Stitziel, N., Bandell, M., Giovanni, M. A., Philippakis, A., Hoischen, A., Riemer, G., Steen, U., Steen, V. M., Mathur, J., Cox, J., Lebo, M., Rehm, H., Weiss, S. T., Wood, J. N., Maas, R. L., Sunyaev, S. R., Patapoutian, A. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of distal arthrogryposis. Proc. Nat. Acad. Sci. 110: 4667-4672, 2013.
2013
23487782item
256Cottenie, E., Kochanski, A., Jordanova, A., Bansagi, B., Zimon, M., Horga, A., Jaunmuktane, Z., Saveri, P., Rasic, V. M., Baets, J., Bartsakoulia, M., Ploski, R., and 28 others. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet 95:590-601.
2014
25439726item
257Coutelier, M., Blesneac, I., Monteil, A., Monin, M.-L., Ando, K., Mundwiller, E., Brusco, A., Le Ber, I., Anheim, M., Castrioto, A., Duyckaerts, C., Brice, A., Durr, A., Lory, P., Stevanin, G. A recurrent mutation in CACNA1G alters Cav3.1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia. Am. J. Hum. Genet. 97: 726-737, 2015.
2015
26456284item
258Coutelier, M., Goizet, C., Durr, A., Habarou, F., Morais, S., Dionne-Laporte, A., Tao, F., Konop, J., Stoll, M., Charles, P., Jacoupy, M., Matusiak, R. and 22 others. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain 138: 2191-2205, 2015.
2015
26026163item
259Cox, L. E., Ferraiuolo, L., Goodall, E. F., Heath, P. R., Higginbottom, A., Mortiboys, H., Hollinger, H. C., Hartley, J. A., Brockington, A., Burness, C. E., Morrison, K. E., Wharton, S. B., Grierson, A. J., Ince, P. G., Kirby, J., Shaw, P. J. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PLoS One 5: e9872, 2010. Note: Electronic Article.
2010
20352044item
260Crockett CD, Ruggieri A, Gujrati M, Zallek CM, Ramachandran N, Minassian BA, Moore SA. Late adult-onset of X-linked myopathy with excessive autophagy. Muscle Nerve. 2014 Jul;50(1):138-44. doi: 10.1002/mus.24197. Epub 2014 May 17.
2014
24488655item
261Crosby, A. H., Patel, H., Chioza, B. A., Proukakis, C., Gurtz, K., Patton, M. A., Sharifi, R., Harlalka, G., Simpson, M. A., Dick, K., Reed, J. A., Al-Memar, A., Chrzanowska-Lightowlers, Z. M. A., Cross, H. E., Lightowlers, R. N. Defective mitochondrial mRNA maturation is associated with spastic ataxia. Am. J. Hum. Genet. 87: 655-660, 2010.
2010
20970105item
262Crotti, L., Johnson, C. N., Graf, E., De Ferrari, G. M., Cuneo, B. F., Ovadia, M., Papagiannis, J., Feldkamp, M. D., Rathi, S. G., Kunic, J. D., Pedrazzini, M., Wieland, T., and 11 others. Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation 127: 1009-1017, 2013.
2013
23388215item
item
263Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, Newsom-Davis J. Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. Hum Mol Genet. 1997 May;6(5):767-74.
1997
9158151item
264Croxen, R.; Vincent, A.; Newsom-Davis, J.; Beeson, D. : Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations. Neurology 58: 1563-1565, 2002.
2002
12034803item
265Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. Related Articles, Links A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 1995 Mar 10;80(5):795-803.
1995
7889573item
266D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM and Bertini E. Expanding the clinical spectrum of POMT1 phenotype. Neurology 2006 ;66:1564-7
2006
16717220item
267Dafsari HS, Kocaturk NM, Daimagüler HS, et al. Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy. Acta Neuropathol Commun. 2019;7(1):211. Published 2019 Dec 18. doi:10.1186/s40478-019-0869-1
2019
31852522item
268Dalski, A.; Atici, J.; Kreuz, F. R.; Hellenbroich, Y.; Schwinger, E.; Zuhlke, C. : Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Europ. J. Hum. Genet. 13: 118-120, 2005.
2005
15470364item
269Danhauser, K., Alhaddad, B., Makowski, C., Piekutowska-Abramczuk, D., Syrbe, S., Gomez-Ospina, N., Manning, M. A., Kostera-Pruszczyk, A., Krahn-Peper, C., Berutti, R., Kovacs-Nagy, R., Gusic, M., and 24 others. Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axonal neuropathy. Am. J. Hum. Genet. 103: 817-825, 2018
2018
30401461item
270Daoud, H., Belzil, V., Martins, S., Sabbagh, M., Provencher, P., Lacomblez, L., Meininger, V., Camu, W., Dupre, N., Dion, P. A., Rouleau, G. A. Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Arch. Neurol. 68: 739-742, 2011.
2011
21670397item
271Date, H.; Onodera, O.; Tanaka, H.; Iwabuchi, K.; Uekawa, K.; Igarashi, S.; Koike, R.; Hiroi, T.; Yuasa, T.; Awaya, Y.; Sakai, T.; and 9 others : Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nature Genet. 29: 184-188, 2001.
2001
11586299item
item
272David G, Durr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belal S, Lebre AS, Abada-Bendib M, Grid D, Holmberg M, Yahyaoui M, Hentati F, Chkili T, Agid Y, Brice A. Related Articles, Links Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet. 1998 Feb;7(2):165-70.
1998
9425222item
273Davignon, L., Chauveau, C., Julien, C., Dill, C., Duband-Goulet, I., Cabet, E., Buendia, B., Lilienbaum, A., Rendu, J., Minot, M. C., Guichet, A., Allamand, V., Vadrot, N., Faure, J., Odent, S., Lazaro, L., Leroy, J. P., Marcorelles, P., Dubourg, O., Ferreiro, A. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. Hum. Molec. Genet. 25: 1559-1573, 2016.
2016
27008887item
274Davis, J. S.; Hassanzadeh, S.; Winitsky, S.; Lin, H.; Satorius, C.; Vemuri, R.; Aletras, A. H.; Wen, H.; Epstein, N. D. : The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation. Cell 107: 631-641, 2001.
2001
11733062item
275Dawkins, J. L.; Hulme, D. J.; Brahmbhatt, S. B.; Auer-Grumbach, M.; Nicholson, G. A. : Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nature Genet. 27: 309-312, 2001.
2001
11242114item
276de Greef, J. C., Lemmers, R. J. L. F., Camano, P., Day, J. W., Sacconi, S., Dunand, M., van Engelen, B. G. M., Kiuru-Enari, S., Padberg, G. W., Rosa, A. L., Desnuelle, C., Spuler, S., Tarnopolsky, M., Venance, S. L., Frants, R. R., van der Maarel, S. M., Tawil, R. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 75: 1548-1554, 2010.
2010
20975055item
277De Jonghe, P.; Timmerman, V.; Ceuterick, C.; Nelis, E.; De Vriendt, E.; Lofgren, A.; Vercruyssen, A.; Verellen, C.; Van Maldergem, L.; Martin, J.-J.; Van Broeckhoven, C. : The thr124-to-met mutation in peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 122: 281-290, 1999.
1999
10071056item
item
278De Jonghe, P.; Timmerman, V.; Nelis, E.; De Vriendt, E.; Lofgren, A.; Ceuterick, C.; Martin, J.-J.; Van Broeckhoven, C. : A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. Arch. Neurol. 56: 1283-1288, 1999.
1999
10520946item
279De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB. Related Articles, Links Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet. 1996 Jan;12(1):52-7.
1996
8528251item
280De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J. A TPM3 mutation causing cap myopathy. Neuromuscul Disord. 2009 Oct;19(10):685-8. Epub 2009 Jun 23.
2009
19553118item
281de Vries, B.; Mamsa, H.; Stam, A. H.; Wan, J.; Bakker, S. L. M.; Vanmolkot, K. R. J.; Haan, J.; Terwindt, G. M.; Boon, E. M. J.; Howard, B. D.; Frants, R. R.; Baloh, R. W.; Ferrari, M. D.; Jen, J. C.; van den Maagdenberg, A. M. J. M. : Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Arch Neurol. 2009 Jan;66(1):97-101.
2009
19139306item
282Debs S, Ferreira CR, Groden C, Kim HJ, King KA, King MC, Lehky T, Cowen EW, Brown LH, Merideth M, Owen CM, Macnamara E, Toro C, Gahl WA, Soldatos A. Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. Am J Med Genet A. 2021 Jul;185(7):2102-2107. doi: 10.1002/ajmg.a.62245. Epub 2021 Jun 4. PMID: 34089226; PMCID: PMC8330494.
2021
34089226item
283DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., Kouri, N., Wojtas, A., and 16 others. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72: 245-256, 2011.
2011
21944778item
284Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Megarbane A, Claustres M. Related Articles, Links Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. Am J Hum Genet. 2000 Jul;67(1):236-43. Epub 2000 Jun 02.
2000
10848494item
285Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, M²©garban²© A, Haase G, L²©vy N. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet. 2007 Jul;81(1):1-16.
2007
17564959item
286Delague, V.; Bareil, C.; Bouvagnet, P.; Salem, N.; Chouery, E.; Loiselet, J.; Megarbane, A.; Claustres, M. : A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family. Neurogenetics 4: 23-27, 2002.
2002
12030328item
287Delatycki, M. B.; Knight, M.; Koenig, M.; Cossee, M.; Williamson, R.; Forrest, S. M. : G130V, a common FRDA point mutation, appears to have arisen from a common founder. Hum. Genet. 105: 343-346, 1999.
1999
10543403item
288Delplanque, J., Devos, D., Huin, V., Genet, A., Sand, O., Moreau, C., Goizet, C., Charles, P., Anheim, M., Monin, M. L., Buee, L., Destee, A., and 9 others. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. Brain 137: 2657-2663, 2014.
2014
25070513item
289Delpon, E., Cordeiro, J. M., Nunez, L., Thomsen, P. E. B., Guerchicoff, A., Pollevick, G. D., Wu, Y., Kanters, J. K., Larsen, C. T., Burashnikov, E., Christiansen, M., Antzelevitch, C. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ. Arrhythmia Electrophysiol. 1: 209-218, 2008.
2008
NRitem
290Demir, E.; Sabatelli, P.; Allamand, V.; Ferreiro, A.; Moghadaszadeh, B.; Makrelouf, M.; Topaloglu, H.; Echenne, B.; Merlini, E.; Guicheney, P. : Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am. J. Hum. Genet. 70: 1446-1458, 2002.
2002
11992252item
item
291Deng, H.-X., Chen, W., Hong, S.-T., Boycott, K. M., Gorrie, G. H., Siddique, N., Yang, Y., Fecto, F., Shi, Y., Zhai, H., Jiang, H., Hirano, M., and 11 others. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477: 211-215, 2011.
2011
21857683item
292Deng, H.-X., Klein, C. J., Yan, J., Shi, Y., Wu, Y., Fecto, F., Yau, H.-J., Yang, Y., Zhai, H., Siddique, N., Hedley-Whyte, E. T., Delong, R., Martina, M, Dyck, P. J., Siddique, T. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nature Genet. 42: 165-169, 2010.
2010
20037587item
item
item
293Deng, J., Yu, J., Li, P., Luan, X., Cao, L., Zhao, J., Yu, M., Zhang, W., Lv, H., Xie, Z., Meng, L., Zheng, Y., and 22 others. Expansion of GGC repeat in GIPC1 is associated with oculopharyngodistal myopathy. Am. J. Hum. Genet. 106: 793-804, 2020.
2020
32413282item
294Depondt, C., Donatello, S., Rai, M., Wang, F. c., Manto, M., Simonis, N., Pandolfo, M. MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). Neurol. Genet. 2: e94, 2016. Note: Electronic Article.
2016
27583304item
295Depondt, C., Donatello, S., Simonis, N., Rai, M., van Heurck, R., Abramowicz, M., D'Hooghe, M., Pandolfo, M. Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. Neurology 82: 1749-1750, 2014.
2014
24719489item
296Deschauer, M., Hengel, H., Rupprich, K., Kreiss, M., Schlotter-Weigel, B., Grimmel, M., Admard, J., Schneider, I., Alhaddad, B., Gazou, A., Sturm, M., Vorgerd, M., and 15 others. Bi-allelic truncating mutations in VWA1 cause neuromyopathy. Brain 144: 574-583, 2021. [PubMed: 33459760,
2021
33459760item
297Deschauer, M., Tennant, S., Rokicka, A., He, L., Kraya, T., Turnbull, D. M., Zierz, S., Taylor, R. W. MELAS associated with mutations in the POLG1 gene. Neurology 68: 1741-1742, 2007.
2007
17502560item
298Devalla, H. D., Gelinas, R., Aburawi, E. H., Beqqali, A., Goyette, P., Freund, C., Chaix, M.-A., Tadros, R., Jiang, H., Le Bechec, A., Monshouwer-Kloots, J. J., Zwetsloot, T., and 17 others. TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. EMBO Molec. Med. 8: 1390-1408, 2016.
2016
27861123item
299Dhandapany, P. S., Razzaque, M. A., Muthusami, U., Kunnoth, S., Edwards, J. J., Mulero-Navarro, S., Riess, I., Pardo, S., Sheng, J., Rani, D. S., Rani, B., Govindaraj, P., and 17 others. RAF1 mutations in childhood-onset dilated cardiomyopathy. Nature Genet. 46: 635-639, 2014.
2014
24777450item
300Di Bella, D., Lazzaro, F., Brusco, A., Plumari, M., Battaglia, G., Pastore, A., Finardi, A., Cagnoli, C., Tempia, F., Frontali, M., Veneziano, L., Sacco, T., and 14 others. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nature Genet. 42: 313-321, 2010.
2010
20208537item
301Di Costanzo, S., Balasubramanian, A., Pond, H. L., Rozkalne, A., Pantaleoni, C., Saredi, S., Gupta, V. A., Sunu, C. M., Yu, T. W., Kang, P. B., Salih, M. A., Mora, M., Gussoni, E., Walsh, C. A., Manzini, M. C. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum. Molec. Genet. 23: 5781-5792, 2014.
2014
24925318
302Di Fonzo A, Ronchi D, Gallia F, Cribiù FM, Trezzi I, Vetro A, Della Mina E, Limongelli I, Bellazzi R, Ricca I, Micieli G, Fassone E, Rizzuti M, Bordoni A, Fortunato F, Salani S, Mora G, Corti S, Ceroni M, Bosari S, Zuffardi O, Bresolin N, Nobile-Orazio E1, Comi GP. Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. Neurology Jun 2014, 82 (22) 1990-1998; DOI: 10.1212/WNL.0000000000000476
2014
24808015item
item
item
item
item
item
item
item
item
303Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP. The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet. 2009 May;84(5):594-604. doi: 10.1016/j.ajhg.2009.04.004. Epub 2009 Apr 30. PMID: 19409522; PMCID: PMC2681006.
2009
19409522item
304Di Gioia, S. A., Connors, S., Matsunami, N., Cannavino, J., Rose, M. F., Gilette, N. M., Artoni, P., Sobreira, N. L. M., Chan, W.-M., Webb, B. D., Robson, C. D., Cheng, L., and 24 others. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature Commun. 8: 16077, 2017. Note: Electronic Article.
2017
28681861item
305Di Gregorio, E., Borroni, B., Giorgio, E., Lacerenza, D., Ferrero, M., Lo Buono, N., Ragusa, N., Mancini, C., Gaussen, M., Calcia, A., Mitro, N., Hoxha, E., and 23 others. ELOVL5 mutations cause spinocerebellar ataxia 38. Am. J. Hum. Genet. 95: 209-217, 2014.
2014
25065913item
item
306Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology. 2008 Jul 22;71(4):248-52. Epub 2008 May 7.
2008
18463364item
307DiMauro S, Dalakas M, Miranda AF. Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. Ann Neurol. 1983 Jan;13(1):11-9.
1983
6830158item
item
item
item
308DiMauro S, DiMauro PM. Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science. 1973 Nov 20;182(115):929-31.
1973
4745596item
309Doherty, E. J.; Macy, M. E.; Wang, S. M.; Dykeman, C. P.; Melanson, M. T.; Engle, E. C. : CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest. Ophthal. Vis. Sci. 40: 1687-1694, 1999.
1999
10393037item
310Doi, H., Yoshida, K., Yasuda, T., Fukuda, M., Fukuda, Y., Morita, H., Ikeda, S., Kato, R., Tsurusaki, Y., Miyake, N., Saitsu, H., Sakai, H., Miyatake, S., Shiina, M., Nukina, N., Koyano, S., Tsuji, S., Kuroiwa, Y., Matsumoto, N. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Am. J. Hum. Genet. 89: 320-327, 2011.
2011
21835308item
311Dong HL, Ma Y, Yu H, Wei Q, Li JQ, Liu GL, Li HF, Chen L, Chen DF, Bai G, Wu ZY. Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy. Brain. 2021 Sep 4;144(8):2457-2470. doi: 10.1093/brain/awab135. PMID: 33751098
2021
33751098item
312Donger C, Krejci E, Serradell AP, Eymard B, Bon S, Nicole S, Chateau D, Gary F, Fardeau M, Massoulie J, Guicheney P. Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). Am J Hum Genet. 1998 Oct;63(4):967-75.
1998
9758617item
313Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol. 2019 Aug 29. doi: 10.1007/s00401-019-02059-z.
2019
31463572item
item
314Donner K, Ollikainen M, Ridanpaa M, Christen HJ, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C. Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. Neuromuscul Disord. 2002 Feb;12(2):151-8.
2002
11738357item
315Dor, T., Cinnamon, Y., Raymond, L., Shaag, A., Bouslam, N., Bouhouche, A., Gaussen, M., Meyer, V., Durr, A., Brice, A., Benomar, A., Stevanin, G., Schuelke, M., Edvardson, S. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J. Med. Genet. 51: 137-142, 2014.
2014
24319291item
316Driss A, Amouri R, Ben Hamida C, Souilem S, Gouider-Khouja N, Ben Hamida M, Hentati F. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. Neuromuscul Disord. 2000 Jun;10(4-5):240-6.
2000
10838249item
317Duan, R., Shi, Y., Yu, L., Zhang, G., Li, J., Lin, Y., Guo, J., Wang, J., Shen, L., Jiang, H., Wang, G., Tang, B. UBA5 mutations cause a new form of autosomal recessive cerebellar ataxia. PLoS One 11: e0149039, 2016.
2016
26872069item
318Duarri, A., Jezierska, J., Fokkens, M., Meijer, M., Schelhaas, H. J., den Dunnen, W. F. A., van Dijk, F., Verschuuren-Bemelmans, C., Hageman, G., van de Vlies, P., Kusters, B., van de Warrenburg, B. P., Kremer, B., Wijmenga, C., Sinke, R. J., Swertz, M. A., Kampinga, H. H., Boddeke, E., Verbeek, D. S. Mutations in potassium channel KCND3 cause spinocerebellar ataxia type 19. Ann. Neurol. 72: 870-880, 2012
2012
23280838item
319Duboscq-Bidot L, Charron P, Ruppert V, Fauchier L, Richter A, Tavazzi L, Arbustini E, Wichter T, Maisch B, Komajda M, Isnard R, Villard E. Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. Eur Heart J. 2009 Sep;30(17):2128-36. Epub 2009 Jun 12.
2009
19525294item
320Duboscq-Bidot L, Xu P, Charron P, Neyroud N, Dilanian G, Millaire A, Bors V, Komajda M, Villard E. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 2008 Jan;77(1):118-25. Epub 2007 Sep 19.
2008
18006477item
321Dudding, T. E.; Friend, K.; Schofield, P. W.; Lee, S.; Wilkinson, I. A.; Richards, R. I. : Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. Neurology 63: 2288-2292,
2004
15623688item
322Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PF, Fürst DO, Song J, Djinovi?-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet. 2011 Jun 10;88(6):729-40. Epub 2011 May 27.
2011
21620354item
323Durand J B, Bachinski L L, Bieling L C, Czernuszewicz G Z, Abchee A B, Yu Q T, Tapscott T, Hill R, Ifegwu J, Marian A J, Brugada R, Daiger S, Gregoritch J, Anderson J, Qui²±ones M, Towbin J, Roberts R. Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Circulation 1995; 92: 3387-9.
1995
8521556item
324Dursun U, Koroglu C, Kocasoy Orhan E, Ugur SA, Tolun A. Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. Neurogenetics. 2009 Oct;10(4):325-31. Epub 2009 May 5.
2009
19415352item
item
item
325Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Network UD, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJ. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 Jun 3;29(9):1568-1579. doi: 10.1093/hmg/ddaa081. PMID: 32356556; PMCID: PMC7268787.
2020
32356556item
326Ebers GC, George AL, Barchi RL, Ting-Passador SS, Kallen RG, Lathrop GM, Beckmann JS, Hahn AF, Brown WF, Campbell RD, et al. Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene. Ann Neurol. 1991 Dec;30(6):810-6.
1991
1686388item
327Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayençon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B. SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. Neurology. 2013 Oct 22;81(17):1523-30. doi: 10.1212/WNL.0b013e3182a4a518. Epub 2013 Sep 11.
2013
24027061item
328Edvardson S., Cinnamon Y., Jalas C., et al. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol 2012;71:569–72.
2012
22522446item
329Edvardson, S., Elbaz-Alon, Y., Jalas, C., Matlock, A., Patel, K., Labbe, K., Shaag, A., Jackman, J. E., Elpeleg, O. A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. Neurogenetics 17: 219-225, 2016.
2016
27307223item
330Edwards YH, Sakoda S, Schon E, Povey S. The gene for human muscle-specific phosphoglycerate mutase, PGAM2, mapped to chromosome 7 by polymerase chain reaction. Genomics. 1989 Nov;5(4):948-51.
1989
2556344item
331Eidhof, I., Baets, J., Kamsteeg, E.-J., Deconinck, T., van Ninhuijs, L., Martin, J.-J., Schule, R., Zuchner, S., De Jonghe, P., Schenck, A., van de Warrenburg, B. P. GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. Brain 141: 2592-2604, 2018.[PubMed: 30084953]
2018
30084953item
332Einarsdottir, E.; Carlsson, A.; Minde, J.; Toolanen, G.; Svensson, O.; Solders, G.; Holmgren, G.; Holmberg, D.; Holmberg, M. : A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum. Molec. Genet. 13: 799-805, 2004.
2004
14976160item
333Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001 Sep;29(1):83-7.
2001
11528398item
334Elbaz A, Vale-Santos J, Jurkat-Rott K, Lapie P, Ophoff RA, Bady B, Links TP, Piussan C, Vila A, Monnier N, et al. Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families. Am J Hum Genet. 1995 Feb;56(2):374-80.
1995
7847370item
335Elden, A. C., Kim, H.-J., Hart, M. P., Chen-Plotkin, A. S., Johnson, B. S., Fang, X., Armakola, M., Geser, F., Greene, R., Lu, M. M., Padmanabhan, A., Clay-Falcone, D., and 11 others. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 466: 1069-1075, 2010.
2010
20740007item
336Elleuch N, Bouslam N, Hanein S, Lossos A, Hamri A, Klebe S, Meiner V, Birouk N, Lerer I, Grid D, Bacq D, Tazir M, Zelenika D, Argov Z, Durr A, Yahyaoui M, Benomar A, Brice A, Stevanin G. Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. Neurogenetics. 2007 Nov;8(4):307-15. Epub 2007 Jul 28.
2007
17661097item
337Ellinor, P. T.; Shin, J. T.; Moore, R. K.; Yoerger, D. M.; MacRae, C. A. : Locus for atrial fibrillation maps to chromosome 6q14-16. Circulation 107: 2880-2883, 2003.
2003
12782570item
item
338Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 2005;76:1081-1086.
2005
15877282item
339Endo, Y., Dong, M., Noguchi, S., Ogawa, M., Hayashi, Y. K., Kuru, S., Sugiyama, K., Nagai, S., Ozasa, S., Nonaka, I., Nishino, I. Milder forms of muscular dystrophy associated with POMGNT2 mutations. Neurol. Genet. 1: e33, 2015. Note: Electronic Article.
2015
27066570item
340Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC. End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon sub-unit. Ann Neurol 1996;40:810-817.
1996
8957026item
341Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet. 1996 Sep;5(9):1217-27.
1996
8872460item
item
item
342Engel AG, Selcen D, Shen XM, Milone M, Harper CM. Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia. Neurol Genet. 2016 Sep 8;2(5):e105. doi: 10.1212/NXG.0000000000000105. eCollection 2016 Oct.
2016
27648472item
343Engert JC, Berube P, Mercier J, Dore C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melancon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet. 2000 Feb;24(2):120-5.
2000
10655055item
item
344Engert, J. C.; Dore, C.; Mercier, J.; Ge, B.; Betard, C.; Rioux, J. D.; Owen, C.; Berube, P.; Devon, K.; Birren, B.; Melancon, S. B.; Morgan, K.; Hudson, T. J.; Richter, A. : Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11. Genomics 62: 156-164, 1999.
1999
10610707item
item
345Engle EC, Kunkel LM, Specht LA, Beggs AH. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 1994 May;7(1):69-73.
1994
8075644item
346Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res. 2011 May;21(5):658-64. Epub 2011 Apr 12.
2011
21487076item
347Escayg, A.; De Waard, M.; Lee, D. D.; Bichet, D.; Wolf, P.; Mayer, T.; Johnston, J.; Baloh, R.; Sander, T.; Meisler, M. H. : Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am. J. Hum. Genet. 66: 1531-1539, 2000.
2000
10762541item
348Estan MC, Fernandez-Nunez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bonnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun. 2019 Feb 15;10(1):797. doi: 10.1038/s41467-019-08548-9.
2019
30770808item
349Esteves, T., Durr, A., Mundwiller, E., Loureiro, J. L., Boutry, M., Gonzalez, M. A., Gauthier, J., El-Hachimi, K. H., Depienne, C., Muriel, M.-P., Acosta Lebrigio, R. F., Gaussen, M., and 11 others. Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. Am. J. Hum. Genet. 94: 268-277, 2014.
2014
24388663item
item
350Evgrafov, O. V.; Mersiyanova, I.; Irobi, J.; Van Den Bosch, L.; Dierick, I.; Leung, C. L.; Schagina, O.; Verpoorten, N.; Van Impe, K.; Fedotov, V.; Dadali, E.; Auer-Grumbach, M.; and 14 others : Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nature Genet. 36: 602-606, 2004.
2004
15122254 item
item
351Eymard-Pierre, E.; Lesca, G.; Dollet, S.; Santorelli, F. M.; di Capua, M.; Bertini, E.; Boespflug-Tanguy, O. : Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am. J. Hum. Genet. 71: 518-527, 2002.
2002
12145748item
item
item
352Faber, C. G., Hoeijmakers, J. G. J., Ahn, H.-S., Cheng, X., Han, C., Choi, J.-S., Estacion, M., Lauria, G., Vanhoutte, E. K., Gerrits, M. M., Dib-Hajj, S., Drenth, J. P. H., Waxman, S. G., Merkies, I. S. J. Gain of function Na(v)1.7 mutations in idiopathic small fiber neuropathy. Ann. Neurol. 71: 26-39, 2012.
2012
21698661item
353Farazi Fard, M. A., Rebelo, A. P., Buglo, E., Nemati, H., Dastsooz, H., Gehweiler, I., Reich, S., Reichbauer, J., Quintans, B., Ordonez-Ugalde, A., Cortese, A., Courel, S., and 30 others. Truncating mutations in UBAP1 cause hereditary spastic paraplegia. Am. J. Hum. Genet. 104: 767-773, 2019. Note: Erratum: Am. J. Hum. Genet. 104: 1251 only, 2019.
2019
30929741item
354Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S. Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. J Med Genet. 2011 Oct;48(10):691-7.
2011
21931170item
355Fatkin, D.; MacRae, C.; Sasaki, T.; Wolff, M. R.; Porcu, M.; Frenneaux, M.; Atherton, J.; Vidaillet, H. J., Jr.; Spudich, S.; De Girolami, U.; Seidman, J. G.; Seidman, C. E. :Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. New Eng. J. Med. 341: 1715-1724, 1999.
1999
10580070item
356Fattahi Z, Kahrizi K, Nafissi S, Fadaee M, Abedini SS, Kariminejad A, Akbari MR, Najmabadi H. Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. Arch Iran Med. 2015 Jan;18(1):60-4. doi: 0151801/AIM.0014.
2015
25556389item
357Fecto, F., Yan, J., Vemula, S. P., Liu, E., Yang, Y., Chen, W., Zheng, J. G., Shi, Y., Siddique, N., Arrat, H., Donkervoort, S., Ajroud-Driss, S., Sufit, R. L., Heller, S. L., Deng, H.-X., Siddique, T. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch. Neurol. 68: 1440-1446.
2011
22084127item
358Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet Med. 2019 May 16. doi: 10.1038/s41436-019-0532-z. [Epub ahead of print]
2019
31092906item
359Feit, H.; Silbergleit, A.; Schneider, L. B.; Gutierrez, J. A.; Fitoussi, R.-P.; Reyes, C.; Rouleau, G. A.; Brais, B.; Jackson, C. E.; Beckmann, J. S.; Seboun, E. : Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. Am. J. Hum. Genet. 63: 1732-1742, 1998.
1998
9837826item
item
item
item
item
360Fernet, M.; Gribaa, M.; Salih, M. A. M.; Seidahmed, M. Z.; Hall, J.; Koenig, M. : Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum. Molec. Genet. 14: 307-318, 2005.
2005
15574463item
361Ferreiro A, Mezmezian M, Olivé M, Herlicoviez D, Fardeau M, Richard P, Romero NB. Telethonin-deficiency initially presenting as a congenital muscular dystrophy. Neuromuscul Disord. 2011 Jun;21(6):433-8. Epub 2011 May 6.
2011
21530252item
362Ferreiro, A.; Ceuterick-de Groote, C.; Marks, J. J.; Goemans, N.; Schreiber, G.; Hanefeld, F.; Fardeau, M.; Martin, J.-J.; Goebel, H. H.; Richard, P.; Guicheney, P.; Bonnemann, C. G. : Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann. Neurol. 55: 676-686, 2004.
2004
15122708item
item
item
363Ferreiro, A.; Monnier, N.; Romero, N. B.; Leroy, J.-P.; Bonnemann, C.; Haenggeli, C.-A.; Straub, V.; Voss, W. D.; Nivoche, Y.; Jungbluth, H.; Lemainque, A.; Voit, T.; Lunardi, J.; Fardeau, M.; Guicheney, P. : A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann. Neurol. 51: 750-759, 2002.
2002
12112081item
364Ferreiro, A.; Quijano-Roy, S.; Pichereau, C.; Moghadaszadeh, B.; Goemans, N.; Bonnemann, C.; Jungbluth, H.; Straub, V.; Villanova, M.; Leroy, J.-P.; Romero, N. B.; Martin, J.-J.; Muntoni, F.; Voit, T.; Estournet, B.; Richard, P.; Fardeau, M.; Guicheney, P. : Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am. J. Hum. Genet. 71: 739-749, 2002
2002
12192640item
item
365Fichtman B, Zagairy F, Biran N, Barsheshet Y, Chervinsky E, Ben Neriah Z, Shaag A, Assa M, Elpeleg O, Harel A, Spiegel R. Combined loss of LAP1B and LAP1C results in an early onset multisystemic , nuclear envelopathy. Nat Commun. 2019 Feb 5;10(1):605. doi: 10.1038/s41467-019-08493-7.
2019
30723199item
366Fink JK, Wu CT, Jones SM, Sharp GB, Lange BM, Lesicki A, Reinglass T, Varvil T, Otterud B, Leppert M. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet. 1995 Jan;56(1):188-92.
1995
7825577item
367Finocchiaro G, Taroni F, Rocchi M, Martin AL, Colombo I, Tarelli GT, DiDonato S. cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci U S A. 1991 Jan 15;88(2):661-5. Erratum in: Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10981.
1991
1988962item
368Finsterer J, Stöllberger C, Hasun M, Riedhammer K, Wagner M. Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T. Case Rep Cardiol. 2020;2020:5128069. Published 2020 May 13. doi:10.1155/2020/5128069
2020
32509353
369Fischbeck KH, Ionasescu V, Ritter AW, Ionasescu R, Davies K, Ball S, Bosch P, Burns T, Hausmanowa-Petrusewicz I, Borkowska J, et al. Localization of the gene for X-linked spinal muscular atrophy. Neurology. 1986 Dec;36(12):1595-8.
1986
3466055item
370Fischer D, Herasse M, Bitoun M, Barrag²°n-Campos HM, Chiras J, Lafor²™t P, Fardeau M, Eymard B, Guicheney P, Romero NB. Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain. 2006 Jun;129(Pt 6):1463-9. Epub 2006 Apr 3.
2006
16585051item
371Fischer J, Lefevre C, Morava E, Mussini J M, Laforet P, Negre-Salvayre A, Lathrop M, Salvayre R. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet 2007; 39: 28-30.
2007
17187067item
372Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptacek LJ. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet. 1996 Aug;59(2):392-9.
1996
8755926item
373Fogel, B. L., Hanson, S. M., Becker, E. B. E. Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans? Mov. Disord. 30: 284-286, 2015.
2015
25477146item
374Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H, Straub V, Voit T, Romero N, Donkervoort S, Hu Y, Markello T, Horn A, Qebibo L, Dastgir J, Meilleur KG, Finkel RS, Fan Y, Mamchaoui K, Duguez S, Nelson I, Laporte J, Santi M, Malfatti E, Maisonobe T, Touraine P, Hirano M, Hughes I, Bushby K, Oppermann U, Böhm J, Jaiswal JK, Stojkovic T, Bönnemann CG. GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Ann Neurol. 2020 Aug;88(2):332-347. doi: 10.1002/ana.25772. Epub 2020 Jun 18. PMID: 32403198; PMCID: PMC7496979.
2020
32403198item
375Fontaine B, Davoine CS, Durr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet. 2000 Feb;66(2):702-7.
2000
10677329item
376Fontaine B, Khurana TS, Hoffman EP, Bruns GA, Haines JL, Trofatter JA, Hanson MP, Rich J, McFarlane H, Yasek DM, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science. 1990 Nov 16;250(4983):1000-2.
1990
2173143item
377Fontaine B, Vale-Santos J, Jurkat-Rott K, Reboul J, Plassart E, Rime CS, Elbaz A, Heine R, Guimaraes J, Weissenbach J, et al. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet. 1994 Mar;6(3):267-72.
1994
8012389item
378Foroud, T., Pankratz, N., Batchman, A. P., Pauciulo, M. W., Vidal, R., Miravalle, L., Goebel, H. H., Cushman, L. J., Azzarelli, B., Horak, H., Farlow, M., Nichols, W. C. A mutation in myotilin causes spheroid body myopathy. Neurology 65: 1936-1940, 2005.
2005
16380616item
379Fragaki K., Chaussenot A., Boutron A., et al. Severe defect in mitochondrial complex I assembly with mtDNA deletions in ACAD9-deficient mild myopathy. Muscle Nerve 2016; doi:10.1002/mus.25262
2016
27438479item
380Freed AS, Weiss MD, Malouf EA, Hisama FM. CNTNAP1 mutations in an adult with Charcot Marie Tooth disease. Muscle Nerve. 2019;60(5):E28-E30. doi:10.1002/mus.26658
31397905item
381Freischmidt, A., Wieland, T., Richter, B., Ruf, W., Schaeffer, V., Muller, K., Marroquin, N., Nordin, F., Hubers, A., Weydt, P., Pinto, S., Press, R., and 28 others. Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nature Neurosci. 18: 631-636, 2015.
2015
25803835item
382Freneaux, E.; Sheffield, V. C.; Molin, L.; Shires, A.; Rhead, W. J. : Glutaric acidemia type II: heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha-subunit of electron transfer flavoprotein in eight patients. J. Clin. Invest. 90: 1679-1686, 1992.
1992
1430199item
383Freyer, C., Stranneheim, H., Naess, K., Mourier, A., Felser, A., Maffezzini, C., Lesko, N., Bruhn, H., Engvall, M., Wibom, R., Barbaro, M., Hinze, Y., Magnusson, M., Andeer, R., Zetterstrom, R. H., von Dobeln, U., Wredenberg, A., Wedell, A. Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. J. Med. Genet. 52: 779-783, 2015.
2015
26084283item
384Friedrich U, Brunner H, Smeets D, Lambermon E, Ropers HH. Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q. Hum Genet. 1987 Mar;75(3):291-3.
1987
2881880item
385Frosk, P., Weiler, T., Nylen, E., Sudha, T., Greenberg, C. R., Morgan, K., Fujiwara, T. M., Wrogemann, K. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am. J. Hum. Genet. 70: 663-672, 2002.
2002
11822024item
386Fu, Y.-H.; Pizzuti, A.; Fenwick, R. G., Jr.; King, J.; Rajnarayan, S.; Dunne, P. W.; Dubel, J.; Nasser, G. A.; Ashizawa, T.; de Jong, P.; Wieringa, B.; Korneluk, R.; Perryman, M. B.; Epstein, H. F.; Caskey, C. T. : An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255: 1256-1258, 1992.
1992
1546326 item
387Fujigasaki, H.; Verma, I. C.; Camuzat, A.; Margolis, R. L.; Zander, C.; Lebre, A.-S.; Jamot, L.; Saxena, R.; Anand, I.; Holmes, S. E.; Ross, C. A.; Durr, A.; Brice, A. : SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Ann. Neurol. 49: 117-121, 2001.
2001
11198281item
388Fujii J, Otsu K, Zorzato F, de Leon S, Khanna VK, Weiler JE, O'Brien PJ, MacLennan DH. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science. 1991 Jul 26;253(5018):448-51.
1991
1862346item
389Fulizio, L.; Nascimbeni, A. C.; Fanin, M.; Piluso, G.; Politano, L.; Nigro, V.; Angelini, C. : Molecular and muscle pathology in a series of caveolinopathy patients. Hum. Mutat. 25: 82-89, 2005.
2005
15580566item
item
390Gabellini, D.; D'Antona, G.; Moggio, M.; Prelle, A.; Zecca, C.; Adami, R.; Angeletti, B.; Ciscato, P.; Pellegrino, M. A.; Bottinelli, R.; Green, M. R.; Tupler, R. : Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature 439: 973-977, 2006.
2006
16341202item
391Gabellini, D.; Green, M. R.; Tupler, R. : Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110: 339-348, 2002.
2002
12176321item
392Gache Y, Chavanas S, Lacour JP, Wiche G, Owaribe K, Meneguzzi G, Ortonne JP. Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest. 1996 May 15;97(10):2289-98.
1996
8636409item
item
393Gai, X., Ghezzi, D., Johnson, M. A., Biagosch, C. A., Shamseldin, H. E., Haack, T. B., Reyes, A., Tsukikawa, M., Sheldon, C. A., Srinivasan, S., Gorza, M., Kremer, L. S., and 28 others. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am. J. Hum. Genet. 93: 482-495, 2013.
2013
23993194item
394Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rötig A. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. Hum Mutat. 2011 Nov;32(11):1225-31. doi: 10.1002/humu.21562. Epub 2011 Sep 14.
2011
21786366item
395Gan-Or, Z., Bouslam, N., Birouk, N., Lissouba, A., Chambers, D. B., Verlepe, J., Androschuk, A., Laurent, S. B., Rochesfort, D., Spiegelman, D., Dionne-Laporte, A., Szuto, A., and 15 others. Mutations in CAPN1 cause autosomal-recessive hereditary spastic paraplegia. Am. J. Hum. Genet. 98: 1038-1046, 2016. Note: Erratum: Am. J. Hum. Genet. 98: 1271 only, 2016.
2016
27153400item
396Garibaldi M, Fattori F, Bortolotti CA, Brochier G, Labasse C, Verardo M, Servian-Morilla E, Gibellini L, Pinti M, Di Rocco G, Raffa S, Pennisi EM, Bertini ES, Paradas C, Romero NB, Antonini G. Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD. Acta Neuropathol Commun. 2018 Sep 13;6(1):94. doi: 10.1186/s40478-018-0595-0. PubMed PMID: 30208948; PubMed Central PMCID: PMC6136213.
2018
30208948item
397Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB. Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. PMID: 30611313
2019
30611313item
item
item
item
item
398Gatti, R. A.; Berkel, I.; Boder, E.; Braedt, G.; Charmley, P.; Concannon, P.; Ersoy, R.; Foroud, T.; Jaspers, N. G. J.; Lange, K.; Lathrop, G. M.; Leppert, M.; Nakamura, Y.; O'Connell, P.; Paterson, M.; Salser, W.; Sanal, O.; Silver, J.; Sparkes, R. S.; Susi, E.; Weeks, D. E.; Wei, S.; White, R.; Yoder, F. : Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 336: 577-580, 1988
1988
3200306item
399Gauthier, J., Meijer, I. A. Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M. H., Rodan, L. H., Karamchandani, J., and 11 others. Recessive mutations in VPS13D cause childhood onset movement disorders. Ann. Neurol. 83: 1089-1095, 2018.
2018
29518281item
400Gavassini BF, Carboni N, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K, Bello L, Maioli MA, Marrosu G, Ticca AF, Mura M, Marrosu MG, Soraru G, Angelini C, Vissing J, Pegoraro E. Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. Muscle Nerve. 2011 Nov;44(5):703-9. doi: 10.1002/mus.22132. Epub 2011 Sep 26.
2011
21953594item
401Ge L, Fu X, Zhang W, Wang D, Wang Z, Yuan Y, Nonaka I, Xiong H. Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement. Neuromuscul Disord. 2019 May;29(5):350-357. doi: 10.1016/j.nmd.2019.03.007. Epub 2019 Mar 14.
2019
31053406item
402Gedeon, A. K.; Wilson, M. J.; Colley, A. C.; Sillence, D. O.; Mulley, J. C. : X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. J. Med. Genet. 32: 383-388, 1995.
1995
7616547item
403Geier C, Gehmlich K, Ehler E, Hassfeld S, Perrot A, Hayess K, Cardim N, Wenzel K, Erdmann B, Krackhardt F, Posch MG, Osterziel KJ, Bublak A, N²§gele H, Scheffold T, Dietz R, Chien KR, Spuler S, F²ºrst DO, N²ºrnberg P, Ozcelik C. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. Hum Mol Genet. 2008 Sep 15;17(18):2753-65. Epub 2008 May 27.
2008
18505755item
404Geis T., Marquard K., Rödl T., Reihle C., Schirmer S., von Kalle T., et al. Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. Neurogenetics 14: 205-213, 2013.
2013
24052401item
405Genis, D., Ortega-Cubero, S., San Nicolas, H., Corral, J., Gardenyes, J., de Jorge, L., Lopez, E., Campos, B., Lorenzo, E., Tonda, R., Beltran, S., Negre, M., and 9 others. Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). Neurology 91: e1988-e1998, 2018. Note: Electronic Article.
2018
30381368item
406Gennarino, V. A., Palmer, E. E., McDonell, L. M., Wang, L., Adamski, C. J., Koire, A., See, L., Chen, C.-A., Schaaf, C. P., Rosenfeld, J. A., Panzer, J. A., Moog, U. A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures. Cell 172: 924-936, 2018.
2018
29474920item
407George AL Jr, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet. 1993 Apr;3(4):305-10.
1993
7981750item
item
408Georgiou, D.-M.; Zidar, J.; Korosec, M.; Middleton, L. T.; Kyriakides, T.; Christodoulou, K. : A novel NF-L mutation pro22-to-ser is associated with CMT2 in a large Slovenian family. Neurogenetics 4: 93-96, 2002.
2002
12481988item
409Geremek M, Dudarewicz L, Obersztyn E, et al. Null variants in AGRN cause lethal fetal akinesia deformation sequence. Clin Genet. 2020;97(4):634-638. doi:10.1111/cge.13677
2020
31730230item
410Gerull, B.; Gramlich, M.; Atherton, J.; McNabb, M.; Trombitas, K.; Sasse-Klaassen, S.; Seidman, J. G.; Seidman, C.; Granzier, H.; Labeit, S.; Frenneaux, M.; Thierfelder, L. : Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nature Genet. 30: 201-204, 2002.
2002
11788824item
411Gerull, B.; Heuser, A.; Wichter, T.; Paul, M.; Basson, C. T.; McDermott, D. A.; Lerman, B. B.; Markowitz, S. M.; Ellinor, P. T.; MacRae, C. A.; Peters, S.; Grossmann, K. S.; Michely, B.; Sasse-Klaassen, S.; Birchmeier, W.; Dietz, R.; Breithardt, G.; Schulze-Bahr, E.; Thierfelder, L. : Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nature Genet. 36: 1162-1164, 2004.
2004
15489853item
412Gess B, Auer-Grumbach M, Schirmacher A, Strom T, Zitzelsberger M, Rudnik-Schöneborn S, Röhr D, Halfter H, Young P, Senderek J. HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. Neurology. 2014 Nov 4;83(19):1726-32. doi: 10.1212/WNL.0000000000000966. Epub 2014 Oct 1.
2014
25274842item
item
413Ghaoui R, Palmio J, Brewer J, et al. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy [published correction appears in Neurology. 2016 Mar 15;86(11):1077]. Neurology. 2016;86(4):391-398. doi:10.1212/WNL.0000000000002324
26718575item
414Ghezzi, D., Baruffini, E., Haack, T. B., Invernizzi, F., Melchionda, L., Dallabona, C., Strom, T. M., Parini, R., Burlina, A. B., Meitinger, T., Prokisch, H., Ferrero, I., Zeviani, M. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am. J. Hum. Genet. 90: 1079-1087, 2012.
2012
22608499item
415Ghosh, S. G., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., and 27 others. Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome. Am. J. Hum. Genet. 103: 431-439, 2018.
2018
30388405item
416Gillard EF, Otsu K, Fujii J, Duff C, de Leon S, Khanna VK, Britt BA, Worton RG, MacLennan DH. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics. 1992 Aug;13(4):1247-54.
1992
1354642item
417Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics. 1991 Nov;11(3):751-5.
1991
1774074item
418Gilliam TC, Brzustowicz LM, Castilla LH, Lehner T, Penchaszadeh GK, Daniels RJ, Byth BC, Knowles J, Hislop JE, Shapira Y, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature. 1990 Jun 28;345(6278):823-5.
1990
1972783item
419Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet. 1993 Jul;4(3):295-9.
1993
8358438item
420Giudicessi, J. R., Ye, D., Tester, D. J., Crotti, L., Mugione, A., Nesterenko, V. V., Albertson, R. M., Antzelevitch, C., Schwartz, P. J., Ackerman, M. J. Transient outward current (I-to) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm 8: 1024-1032, 2011.
2011
21349352item
item
421Giunta M., Edvardson S., XuY., et al. Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy. Hum Mol Genet 2016
2016
27193168item
422Giusti, B.; Lucarini, L.; Pietroni, V.; Lucioli, S.; Bandinelli, B.; Sabatelli, P.; Squarzoni, S.; Petrini, S.; Gartioux, C.; Talim, B.; Roelens, F.; Merlini, L.; Topaloglu, H.; Bertini, E.; Guicheney, P.; Pepe, G.: Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Ann. Neurol. 58: 400-410, 2005.
2005
16130093item
item
423Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007 Oct;130(Pt 10):2725-35. Epub 2007 Sep 18.
2007
17878207item
424Godfrey, C.; Escolar, D.; Brockington, M.; Clement, E. M.; Mein, R.; Jimenez-Mallebrera, C.; Torelli, S.; Feng, L.; Brown, S. C.; Sewry, C. A.; Rutherford, M.; Shapira, Y.; Abbs, S.; Muntoni, F. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol 2006, 60, 603-610
2006
17044012item
425Goizet, C., Boukhris, A., Durr, A., Beetz, C., Truchetto, J., Tesson, C., Tsaousidou, M., Forlani, S., Guyant-Marechal, L., Fontaine, B., Guimaraes, J., Isidor, B., and 14 others CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain 132: 1589-1600, 2009.
2009
19439420item
426Goldfarb LG, Park KY, Cervenakova L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet. 1998 Aug;19(4):402-3.
1998
9697706item
427Gollob, M. H.; Jones, D. L.; Krahn, A. D.; Danis, L.; Gong, X.-Q.; Shao, Q.; Liu, X.; Veinot, J. P.; Tang, A. S. L.; Stewart, A. F. R.; Tesson, F.; Klein, G. J.; Yee, R.; Skanes, A. C.; Guiraudon, G. M.; Ebihara, L.; Bai, D. : Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. New Eng. J. Med. 354: 2677-2688, 2006.
2006
16790700item
item
428Gomez CM, Maselli R, Gammack J, Lasalde J, Tamamizu S, Cornblath DR, Lehar M, McNamee M, Kuncl RW. A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome. Ann Neurol. 1996 Jun;39(6):712-23.
1996
8651643item
429Gomez-Herreros, F., Schuurs-Hoeijmakers, J. H. M., McCormack, M., Greally, M. T., Rulten, S., Romero-Granados, R., Counihan, T. J., Chaila, E., Conroy, J., Ennis, S., Delanty, N., Cortes-Ledesma, F., de Brouwer, A. P. M., Cavalleri, G. L., El-Khamisy, S. F., de Vries, B. B. A., Caldecott, K. W. TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function. Nature Genet. 46: 516-521, 2014.
2014
24658003item
430Gomez-Hurtado, N., Boczek, N. J., Kryshtal, D. O., Johnson, C. N., Sun, J., Nitu, F. R., Cornea, R. L., Chazin, W. J., Calvert, M. L., Tester, D. J., Ackerman, M. J., Knollmann, B. C. Novel CPVT-associated calmodulin mutation in CALM3 (CALM3-A103V) activates arrhythmogenic Ca waves and sparks. Circ. Arrhythm. Electrophysiol. 9: e004161, 2016. Note: Electronic
2016
27516456item
431Gomez, C. M.; Maselli, R. A.; Vohra, B. P. S.; Navedo, M.; Stiles, J. R.; Charnet, P.; Schott, K.; Rojas, L.; Keesey, J.; Verity, A.; Wollmann, R. W.; Lasalde-Dominicci, J. : Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann. Neurol. 51: 102-112, 2002.
2002
11782989item
432Gommans, I. M. P.; Davis, M.; Saar, K.; Lammens, M.; Mastaglia, F.; Lamont, P.; van Duijnhoven, G.; ter Laak, H. J.; Reis, A.; Vogels, O. J. M.; Laing, N.; van Engelen, B. G. M.; Kremer, H. : A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. Brain 126: 1545-1551, 2003
2003
12805120item
433Gonorazky HD, Marshall CR, Al-Murshed M, Hazrati LN, Thor MG, Hanna MG, Männikkö R, Ray PN, Yoon G. Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A. Neuromuscul Disord. 2017 Jun;27(6):574-580. doi: 10.1016/j.nmd.2017.02.001. Epub 2017 Feb 8.
2017
28262468item
434Gonzaga-Jauregui C, Lotze T, Jamal L, et al. Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly. JAMA Neurol 2013
2013
24126608item
435Gonzalez M, McLaughlin H, Houlden H, et al. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry 2013; 84:1247–1249
2013
23729695item
436Gonzalez, M. A., Feely, S. M., Speziani, F., Strickland, A. V., Danzi, M., Bacon, C., Lee, Y., Chou, T.-F., Blanton, S. H., Weihl, C. C., Zuchner, S., Shy, M. E. A novel mutation in VCP causes Charcot-Marie-Tooth type 2 disease. Brain 137: 2897-2902, 2014.
2014
25125609item
437Gonzalez, M., Nampoothiri, S., Kornblum, C., Oteyza, A. C., Walter, J., Konidari, I., Hulme, W., Speziani, F., Schols, L., Zuchner, S., Schule, R. Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).Europ. J. Hum. Genet. 21: 1214-1218, 2013
2013
23486545item
438Gopinath S, Blair IP, Kennerson ML, Durnall JC, Nicholson GA. A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36. Hum Genet. 2007 Jun;121(5):559-64. Epub 2007 Mar 13.
2007
17354000item
439Gotoda T, Arita M, Arai H, Inoue K, Yokota T, Fukuo Y, Yazaki Y, Yamada N. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N Engl J Med. 1995 Nov 16;333(20):1313-8.
1995
7566022item
440Gotz, A., Tyynismaa, H., Euro, L., Ellonen, P., Hyotylainen, T., Ojala, T., Hamalainen, R. H., Tommiska, J., Raivio, T., Oresic, M., Karikoski, R., Tammela, O., Simola, K. O., Paetau, A., Tyni, T., Suomalainen, A. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Am. J. Hum. Genet. 88: 635-642, 2011.
2011
21549344item
441Gouw LG, Kaplan CD, Haines JH, Digre KB, Rutledge SL, Matilla A, Leppert M, Zoghbi HY, Ptacek LJ. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet. 1995 May;10(1):89-93.
1995
7647799item
442Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet. 2010 Mar 12;86(3):485-9. Epub 2010 Mar 4.
2010
20206331item
item
443Greenberg, S. A., Salajegheh, M., Judge, D. P., Feldman, M. W., Kuncl, R. W., Waldon, Z., Steen, H., Wagner, K. R. Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann. Neurol. 71: 141-145, 2012.
2012
22275259item
444Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH, Jr. and Hardiman O. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet 2006;38:411-3. Pub Med ID : 16501576
2007
16501576item
445Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, Eymard B, Richard I, Selcen D, Engel A, Carpen O, Udd B. Zaspopathy in a large classic late-onset distal myopathy family. Brain 2007; 130: 1477-84.
2007
17337483item
446Groenewegen WA, Firouzi M, Bezzina CR, Vliex S, van Langen IM, Sandkuijl L, Smits JP, Hulsbeek M, Rook MB, Jongsma HJ, Wilde AA. A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res. 2003 Jan 10;92(1):14-22.
2003
12522116item
447Grohmann K, Wienker TF, Saar K, Rudnik-Schoneborn S, Stoltenburg-Didinger G, Rossi R, Novelli G, Nurnberg G, Pfeufer A, Wirth B, Reis A, Zerres K, Hubner C. Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21. Am J Hum Genet. 1999 Nov;65(5):1459-62. No abstract available.
1999
10521314item
448Gros-Louis, F., Lariviere, R., Gowing, G., Laurent, S., Camu, W., Bouchard, J.-P., Meininger, V., Rouleau, G. A., Julien, J.-P. A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. J. Biol. Chem. 279: 45951-45956, 2004.
2004
15322088item
449Gros-Louis, F.; Dupre, N.; Dion, P.; Fox, M. A.; Laurent, S.; Verreault, S.; Sanes, J. R.; Bouchard, J.-P.; Rouleau, G. A. : Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nature Genet. 39: 80-85, 2007.
2007
17159980item
item
450Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L. Neurology. 2009 Dec 1;73(22):1883-91. Autosomal recessive Bethlem myopathy.
2009
19949035
451Gudbjartsson, D F; Arnar, D O; Helgadottir, A; Gretarsdottir, S; Holm, H; Sigurdsson, A; Jonasdottir, A; Baker, A; Thorleifsson, G; Kristjansson, K; Palsson, A; Blondal, T; and 28 others : Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature 448: 353-357, 2007.
2007
17603472item
452Gudbjartsson, D. F.; Holm, H.; Gretarsdottir, S.; Thorleifsson, G.; Walters, G. B.; Thorgeirsson, G.; Gulcher, J.; Mathiesen, E. B.; Njolstad, I.; Nyrnes, A.; Wilsgaard, T.; Hald, E. M.; and 31 others. A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nature Genet. 41: 876-878, 2009.
2009
19597491item
453Guelly, C., Zhu, P.-P., Leonardis, L., Papic, L., Zidar, J., Schabhuttl, M., Strohmaier, H., Weis, J., Strom, T. M., Baets, J., Willems, J., De Jonghe, P., Reilly, M. M., Frohlich, E., Hatz, M., Trajanoski, S., Pieber, T. R., Janecke, A. R., Blackstone, C., Auer-Grumbach, M. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am. J. Hum. Genet. 88: 99-105, 2011
2011
21194679item
454Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2009 Sep;85(3):338-53. Epub 2009 Aug 27.
2009
19716112item
455Guergueltcheva, V., Azmanov, D. N., Angelicheva, D., Smith, K. R., Chamova, T., Florez, L., Bynevelt, M., Nguyen, T., Cherninkova, S., Bojinova, V., Kaprelyan, A., Angelova, L., Morar, B., Chandler, D., Kaneva, R., Bahlo, M., Tournev, I., Kalaydjieva, L. Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. Am. J. Hum. Genet. 91: 553-564, 2012.
2012
22901947item
456Guernsey, D. L., Jiang, H., Bedard, K., Evans, S. C., Ferguson, M., Matsuoka, M., Macgillivray, C., Nightingale, M., Perry, S., Rideout, A. L., Orr, A., Ludman, M., Skidmore, D. L., Benstread, T., Samuels, M. E. Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. PLOS Genet. 6: e1001081, 2010. Note: Electronic Article.
2010
20865121item
457Guiloff RJ, Thomas PK, Contreras M, Armitage S, Schwarz G, Sedgwick EM. Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1. Ann Hum Genet. 1982 Jan 1;46(Pt 1):25-7. No abstract available.
1982
6954871item
458Guissart, C., Li, X., Leheup, B., Drouot, N., Montaut-Verient, B., Raffo, E., Jonveaux, P., Roux, A.-F., Claustres, M., Fliegel, L., Koenig, M. Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. Hum. Molec. Genet. 24: 463-470, 2015.
2015
25205112item
459Gundesli, H., Talim, B., Korkusuz, P., Balci-Hayta, B., Cirak, S., Akarsu, N. A., Topaloglu, H., Dincer, P. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am. J. Hum. Genet. 87: 834-841, 2010.
2010
21109228item
460Gupta, V. A., Ravenscroft, G., Shaheen, R., Todd, E. J., Swanson, L. C., Shiina, M., Ogata, K., Hsu, C., Clarke, N. F., Darras, B. T., Farrar, M. A., Hashem, A., and 18 others. Identification of KLHL41 mutations implicates BTB-kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy. Am. J. Hum. Genet. 93: 1108-1117, 2013.
2013
24268659item
461Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F. A novel complex neurological phenotype due to a homozygous mutation in FDX2. Brain. 2018 Aug 1;141(8):2289-2298. doi: 10.1093/brain/awy172.
2018
30010796item
462Gurnett, C. A., Desruisseau, D. M., McCall, K., Choi, R., Meyer, Z. I., Talerico, M., Miller, S. E., Ju, J.-S., Pestronk, A., Connolly, A. M., Druley, T. E., Weihl, C. C., Dobbs, M. B. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum. Molec. Genet. 19: 1165-1173, 2010.
2010
20045868item
463Habib, A. M., Matsuyama, A., Okorokov, A. L., Santana-Varela, S., Bras, J. T., Aloisi, A. M., Emery, E. C., Bogdanov, Y. D., Follenfant, M., Gossage, S. J., Gras, M., Humphrey, J., and 21 others. A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. Brain 141: 365-376, 2018.
2018
29253101item
464Hackman, P., Sarparanta, J., Lehtinen, S., Vihola, A., Evila, A., Jonson, P. H., Luque, H., Kere, J., Screen, M., Chinnery, P. F., Ahlberg, G., Edstrom, L., Udd, B. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann. Neurol. 73: 500-509, 2013.
2013
23401021item
465Hackman, P.; Vihola, A.; Haravuori, H.; Marchand, S.; Sarparanta, J.; de Seze, J.; Labeit, S.; Witt, C.; Peltonen, L.; Richard, I.; Udd, B. : Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am. J. Hum. Genet. 71: 492-500, 2002.
2002
12145747item
item
466Haghighi, K.; Kolokathis, F.; Gramolini, A. O.; Waggoner, J. R.; Pater, L.; Lynch, R. A.; Fan, G. C.; Tsiapras, D.; Parekh, R. R.; Dorn, G. W., 2nd; MacLennan, D. H.; Kremastinos, D. T.; Kranias, E. G.A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc. Nat. Acad. Sci. 103: 1388-1393, 2006.
2006
6432188item
467Haghighi, K.; Kolokathis, F.; Pater, L.; Lynch, R. A.; Asahi, M.; Gramolini, A. O.; Fan, G.-C.; Tsiapras, D.; Hahn, H. S.; Adamopoulos, S.; Liggett, S. B.; Dorn, G. W., II; MacLennan, D. H.; Kremastinos, D. T.; Kranias, E. G. :Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. J. Clin. Invest. 111: 869-876, 2003.
2003
12639993item
468Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet. 2005 Sep;77(3):430-41. Epub 2005
2005
16080118item
469Hamanaka K, ?ikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM. Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology. 2020 Jun 9;94(23):e2441-e2447. doi: 10.1212/WNL.0000000000009617. Epub 2020 May 28. PMID: 32467133; PMCID: PMC7455367.
2020
32467133item
470Hammer, M. B., Eleuch-Fayache, G., Schottlaender, L. V., Nehdi, H., Gibbs, J. R., Arepalli, S. K., Chong, S. B., Hernandez, D. G., Sailer, A., Liu, G., Mistry, P. K., Cai, H., Shrader, G., Sassi, C., Bouhlal, Y., Houlden, H., Hentati, F., Amouri, R., Singleton, A. B. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am. J. Hum. Genet. 92: 245-251, 2013.
2013
23332917item
471Hand, C. K.; Khoris, J.; Salachas, F.; Gros-Louis, F.; Simoes Lopes, A. A.; Mayeux-Portas, V.; Brewer, C. G.; Brown, R. H., Jr.; Meininger, V.; Camu, W.; Rouleau, G. A. : A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am. J. Hum. Genet. 70: 251-256, 2002. Note: Erratum: Am. J. Hum. Genet. 71: 1007 only, 2002.
2002
11706389item
472Hanein S, Durr A, Ribai P, Forlani S, Leutenegger AL, Nelson I, Babron MC, Elleuch N, Depienne C, Charon C, Brice A and Stevanin G. A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. Hum Genet 2007.
2007
17605047item
473Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008 Apr;82(4):992-1002.
2008
18394578item
474Hara, Y., Balci-Hayta, B., Yoshida-Moriguchi, T., Kanagawa, M., Beltran-Valero de Bernabe, D., Gundesli, H., Willer, T., Satz, J. S., Crawford, R. W., Burden, S. J., Kunz, S., Oldstone, M. B. A., Accardi, A., , Talim, B., Muntoni, F., Topaloglu, H., Dincer, P., Campbell, K. P. A dystroglycan mutation associated with limb-girdle muscular dystrophy. New Eng. J. Med. 364: 939-946, 2011.
2011
21388311item
475Haravuori H, Makela-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L. Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet. 1998 Mar;62(3):620-6. Neuromuscul Disord. 2004 Mar;14(3):183-7
2004
9497249item
476Haravuori H, Siitonen HA, Mahjneh I, Hackman P, Lahti L, Somer H, Peltonen L, Kestila M, Udd B. Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3). Neuromuscul Disord. 2004 Mar;14(3):183-7.
2004
15036327item
477Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology. 2001 Apr 10;56(7):869-77.
2001
11294923item
478Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Housman DE, Shaw DJ. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 1992 Feb 6;355(6360):545-6.
1992
1346923item
479Harms MB, Allred P, Gardner R, Jr et al. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Neurology 2010;75:539-46.
2010
20697106
480Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol. 2012 Mar;71(3):407-16. doi: 10.1002/ana.22683. Epub 2012 Feb 14.
2012
22334415item
481Harms, M. B., Allred, P., Gardner, R., Jr., Fernandes Filho, J. A., Florence, J., Pestronk, A., Al-Lozi, M., Baloh, R. H. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Neurology 75: 539-546, 2010.
2012
20697106item
482Harms, M. B., Ori-McKenney, K. M., Scoto, M., Tuck, E. P., Bell, S., Ma, D., Masi, S., Allred, P., Al-Lozi, M., Reilly, M. M., Miller, L. J., Jani-Acsadi, A., Pestronk, A., Shy, M. E., Muntoni, F., Vallee, R. B., Baloh, R. H. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology 78: 1714-1720, 2012.
2012
22459677item
483Hassel, D., Dahme, T., Erdmann, J., Meder, B., Huge, A., Stoll, M., Just, S., Hess, A., Ehlermann, P. Weichenhan, D., Grimmler, M., Liptau, H., Hetzer, R., Regitz-Zagrosek, V., Fischer, C., Nurnberg, P., Schunkert, H., Katus, H. A., Rottbauer, W. Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Nature Med. 15: 1281-1288, 2009.
2009
19881492item
484Haubenberger, D.; Bittner, R. E.; Rauch-Shorny, S.; Zimprich, F.; Mannhalter, C.; Wagner, L.; Mineva, I.; Vass, K.; Auff, E.; Zimprich, A. Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. Neurology 65: 1304-1305, 2005.
2005
16247064item
485Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet. 2000 Sep 1;9(14):2141-7.
2000
10958653item
486Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet. 1993 Nov;5(3):266-8.
1993
7506095item
item
487Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest. 2009 Sep;119(9):2623-33.
2009
19726876item
488Hayashi, T., Arimura, T., Itoh-Satoh, M., Ueda, K., Hohda, S., Inagaki, N., Takahashi, M., Hori, H., Yasunami, M., Nishi, H., Koga, Y., Nakamura, H., and 10 others. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J. Am. Coll. Cardiol. 44: 2192-2201, 2004.
2004
15582318item
489Hayashi, T.; Arimura, T.; Ueda, K.; Shibata, H.; Hohda, S.; Takahashi, M.; Hori, H.; Koga, Y.; Oka, N.; Imaizumi, T.; Yasunami, M.; Kimura, A.: Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun. 313: 178-184, 2004.
2004
14672715item
490Hayashi, Y. K.; Chou, F.-L.; Engvall, E.; Ogawa, M.; Matsuda, C.; Hirabayashi, S.; Yokochi, K.; Ziober, B. L.; Kramer, R. H.; Kaufman, S. J.; Ozawa, E.; Goto, Y.; Nonaka, I.; Tsukahara, T.; Wang, J.; Hoffman, E. P.; Arahata, K. : Mutations in the integrin alpha-7 gene cause congenital myopathy. Nature Genet. 19: 94-97, 1998.
1998
9590299item
491Hazan J, Fontaine B, Bruyn RP, Lamy C, van Deutekom JC, Rime CS, Durr A, Melki J, Lyon-Caen O, Agid Y, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet. 1994 Sep;3(9):1569-73.
1994
7833913item
492Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet. 1993 Oct;5(2):163-7.
1993
8252041item
493Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. Eur J Hum Genet. 2012 Sep;20(9):984-5. doi: 10.1038/ejhg.2012.39. Epub 2012 Mar 7.
2012
22395865item
item
item
item
494Hedberg-Oldfors, C., Darin, N., Olsson Engman, M., Orfanos, Z., Thomsen, C., van der Ven, P. F. M., Oldfors, A. A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency. Europ. J. Hum. Genet. 24: 1771-1777, 2016.
2016
27485408item
item
495Hedberg-Oldfors, C., Meyer, R., Nolte, K., Abdul Rahim, Y., Lindberg, C., Karason, K., Thuestad, I. J., Visuttijai, K., Geijer, M., Begemann, M., Kraft, F., Lausberg, E., and 12 others. Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. Brain 143: 2406-2420, 2020.
2020
32779703item
496Hedberg, C., Niceta, M., Fattori, F., Lindvall, B., Ciolfi, A., D'Amico, A., Tasca, G., Petrini, S., Tulinius, M., Tartaglia, M., Oldfors, A., Bertini, E. Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. J. Neurol. 261: 870-876, 2014.
2014
24570283item
497Hedera P, Rainier S, Alvarado D, Zhao X, Williamson J, Otterud B, Leppert M, Fink JK. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J Hum Genet. 1999 Feb;64(2):563-9.
1999
9973294item
498Heeringa, S. F., Chernin, G., Chaki, M., Zhou, W., Sloan, A. J., Ji, Z., Xie, L. X., Salviati, L., Hurd, T. W., Vega-Warner, V., Killen, P. D., Raphael, Y., and 44 others. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J. Clin. Invest. 121: 2013-2024, 2011.
2011
21540551item
499Heine, R.; Pika, U.; Lehmann-Horn, F. : A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum. Molec. Genet. 2: 1349-1353, 1993.
1993
8242056item
500Hekman, K. E., Yu, G.-Y., Brown, C. D., Zhu, H., Du, X., Gervin, K., Undlien, D. E., Peterson, A., Stevanin, G., Clark, H. B., Pulst, S. M., Bird, T. D., White, K. P., Gomez, C. M. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum. Molec. Genet. 21: 5472-5483, 2012.
2012
23001565item
501Helbling DC, Mendoza D, McCarrier J, Vanden Avond MA, Harmelink MM, Barkhaus PE, Basel D, Lawlor MW. Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy. J Neuropathol Exp Neurol. 2019 Mar 1;78(3):283-287. doi: 10.1093/jnen/nlz004. PubMed PMID: 30715496; PubMed Central PMCID: PMC6380315.
2019
30715496item
502Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tome FM, Schwartz K, Fardeau M, Tryggvason K, et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet. 1995 Oct;11(2):216-8.
1995
7550355item
503Hellenbroich, Y.; Bubel, S.; Pawlack, H.; Opitz, S.; Vieregge, P.; Schwinger, E.; Zuhlke, C. : Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region. J. Neurol. 250: 668-671, 2003.
2003
12796826item
504Hentati A, Bejaoui K, Pericak-Vance MA, Hentati F, Speer MC, Hung WY, Figlewicz DA, Haines J, Rimmler J, Ben Hamida C, et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet. 1994 Jul;7(3):425-8.
1994
7920663item
505Hentati A, Lamy C, Melki J, Zuber M, Munnich A, de Recondo J. Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease. Genomics. 1992 Jan;12(1):155-7.
1992
1733853item
506Hentati, A.; Ouahchi, K.; Pericak-Vance, M. A.; Nijhawan, D.; Ahmad, A.; Yang, Y.; Rimmler, J.; Hung, W.-Y.; Schlotter, B.; Ahmed, A.; Ben Hamida, M.; Hentati, F.; Siddique, T. : Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics 2: 55-60, 1998.
1998
9933301item
item
item
507Hentati, A.; Pericak-Vance, M. A.; Hung, W.-Y.; Belal, S.; Laing, N.; Boustany, R.-M.; Hentati, F.; Ben Hamida, M.; Siddique, T. : Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum. Molec. Genet. 3: 1263-1267, 1994.
1994
7987300item
item
508Herman-Bert A, Stevanin G, Netter JC, Rascol O, Brassat D, Calvas P, Camuzat A, Yuan Q, Schalling M, Durr A, Brice A. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet. 2000 Jul;67(1):229-35. Epub 2000 May 11.
2000
10820125item
509Herrmann, D. N., Horvath, R., Sowden, J. E., Gonzalez, M., Sanchez-Mejias, A., Guan, Z., Whittaker, R. G., Almodovar, J. L., Lane, M., Bansagi, B., Pyle, A., Boczonadi, V., Lochmuller, H., Griffin, H., Chinnery, P. F., Lloyd, T. E., Littleton, J. T., Zuchner, S. Synaptotagmin 2 mutations cause an autosomal-dominant form of Lambert-Eaton myasthenic syndrome and nonprogressive motor neuropathy. Am. J. Hum. Genet. 95: 332-339, 2014. Note: Erratum: Am. J. Hum. Genet. 95: 472 only, 2014.
2014
25192047item
510Hers HG. alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). Biochem J. 1963 Jan;86:11-6.
1963
13954110item
item
511Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. 2010 Apr;3(2):155-61. Epub 2010 Mar 9.
2010
20215591item
512Hicks D, , Sarkozy A, Muelas N, Kohle K, Huebner A, Hudson G, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes P, Roberts R, Krause S, Walter M, Laval S, Straub V, Lochmuller H and Bushby K. A Founder Mutation in Anoctamin 5 is a Major Cause of Limb Girdle Muscular Dystrophy. (Brain, 2010, in press)
2010
21186264item
513Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H. Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. Brain. 2018 Jun 1;141(6):1622-1636. doi: 10.1093/brain/awy104.
2018
29718187item
item
514Higuchi, I.; Shiraishi, T.; Hashiguchi, T,; Suehara, M.; Niiyama, T.; Nakagawa, M.; Arimura, K.; Maruyama, I.; Osame, M. : Frameshift mutation in the collagen VI gene causes Ullrich's disease. Ann. Neurol. 50: 261-265, 2001.
2001
11506412item
515Higuchi, Y., Hashiguchi, A., Yuan, J., Yoshimura, A., Mitsui, J., Ishiura, H., Tanaka, M., Ishihara, S., Tanabe, H., Nozuma, S., Okamoto, Y., Matsuura, E., and 21 others. Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann. Neurol. 79: 659-672, 2016.
2016
26991897item
516Hillaire D, Leclerc A, Faure S, Topaloglu H, Chiannilkulchai N, Guicheney P, Grinas L, Legos P, Philpot J, Evangelista T, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet. 1994 Sep;3(9):1657-61.
1994
7833925item
517Hills, L. B., Masri, A., Konno, K., Kakegawa, W., Lam, A.-T. N., Lim-Melia, E., Chandy, N., Hill, R. S., Partlow, J. N., Al-Saffar, M., Nasir, R., Stoler, J. M., Barkovich, A. J., Watanabe, M., Yuzaki, M., Mochida, G. H. Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology 81: 1378-1386, 2013.
2013
24078737item
518Hiraide T, Fukumura S, Yamamoto A, Nakashima M, Saitsu H. Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance. Brain Dev. 2021 Mar;43(3):470-474. doi: 10.1016/j.braindev.2020.10.010. Epub 2020 Nov 14. PMID: 33199157
2020
33199157item
519Hoch, N. C., Hanzlikova, H., Rulten, S. L., Tetreault, M., Komulainen, E., Ju, L., Hornyak, P., Zeng, Z., Gittens, W., Rey, S. A., Staras, K., Mancini, G. M. S., McKinnon, P. J., Wang, Z.-Q., Wagner, J. D., Care4Rare Canada Consortium, Yoon, G., Caldecott, K. W. XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature 541: 87-91, 2017.
2017
28002403item
520Hodgkinson, C. A.; Bohlega, S.; Abu-Amero, S. N.; Cupler, E.; Kambouris, M.; Meyer, B. F.; Bharucha, V. A. : A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology 59: 1905-1909, 2002.
2002
12499481item
521Hodgson-Zingman, D. M.; Karst, M. L.; Zingman, L. V.; Heublein, D. M.; Darbar, D.; Herron, K. J.; Ballew, J. D.; de Andrade, M.; Burnett, J. C., Jr.; Olson, T. M. Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. New Eng. J. Med. 359: 158-165, 2008.
2008
18614783item
522Hodgson, S.; Boswinkel, E.; Cole, C.; Walker, A.; Dubowitz, V.; Granata, C.; Merlini, L.; Bobrow, M. : A linkage study of Emery-Dreifuss muscular dystrophy. Hum. Genet. 74: 409-416, 1986.
1986
3466853item
523Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24;51(6):919-28.
1987
3319190item
524Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med. 1988 May 26;318(21):1363-8.
1988
3285207item
525Hoffmann, K.; M²ºller, J. S.; Stricker, S.; Megarbane, A.; Rajab, A.; Lindner, T. H.; Cohen, M.; Chouery, E.; Adaimy, L.; Ghanem, I.; Delague, V.; Boltshauser, E.; Talim, B.; Horvath, R.; Robinson, P. N.; Lochm²ºller, H.; Hubner, C.; Mundlos, S. : Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am. J. Hum. Genet. 79: 303-312, 2006.
2006
16826520item
526Hollstein, R., Parry, D. A., Nalbach, L., Logan, C. V., Strom, T. M., Hartill, V. L., Carr, I. M., Korenke, G. C., Uppal, S., Ahmed, M., Wieland, T., Markham, A. F., Bennett, C. P., Gillessen-Kaesbach, G., Sheridan, E. G., Kaiser, F. J., Bonthron, D. T. HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. J. Med. Genet. 52: 797-803, 2015.
2015
26424145item
527Holm, H., Gudbjartsson, D. F., Sulem, P., Masson, G., Helgadottir, H., Zanon, C., Magnusson, O., Helgason, A., Saemundsdottir, J., Gylfason, A., Stefansdottir, H., Gretarsdottir, S., and 18 others. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nature Genet. 43: 316-320, 2011.
2011
21378987item
528Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Nat Genet. 1999 Dec;23(4):391-2.
1999
10581021item
529Hong JM, Jeon H, Choi YC, Cho H, Hong YB, Park HJ. A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease. J Clin Neurol. 2021 Oct;17(4):534-540. doi: 10.3988/jcn.2021.17.4.534. PMID: 34595861; PMCID: PMC8490901.
2021
34595861item
530Hong Y.B., Kang J., Kim J.H., et al. DGAT2 mutation in a family with autosomal-dominant early-onset axonal Charcot-Marie-Tooth disease. Hum Mutat 2016;37:473–80.
2016
26786738item
item
item
item
item
item
item
531Hong YB, Joo J, Hyun YS, Kwak G, Choi YR, Yeo HK, Jwa DH, Kim EJ, Mo WM, Nam SH, Kim SM, Yoo JH, Koo H, Park HT, Chung KW, Choi BO. A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. PLoS Genet. 2016 Feb 1;12(2):e1005829. doi: 10.1371/journal.pgen.1005829.
2016
26828946item
item
532Horstick, E. J., Linsley, J. W., Dowling, J. J., Hauser, M. A., McDonald, K. K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W. W., Zhou, W., Sprague, S. M., Stamm, D. S., Powell, C. M., Speer, M. C., Franzini-Armstrong, C., Hirata, H., Kuwada, J. Y. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nature Commun. 4: 1952, 2013.
2013
23736855item
item
item
item
item
item
item
item
item
item
item
item
533Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet. 2007 Dec;39(12):1434-6. Epub 2007 Nov 25.
2007
18037885item
534Hu H., Matter M.L., Issa-Jahns L., Jijiwa M., Kraemer N., Musante L., et al. Mutations in PTRH2 cause novel infantileonset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Ann. Clin. Transl. Neurol. 1: 1024-1035, 2014.
2014
25574476item
535Hu, D., Barajas-Martinez, H., Burashnikov, E., Springer, M., Wu, Y., Varro, A., Pfeiffer, R., Koopmann, T. T., Cordeiro, J. M., Guerchicoff, A., Pollevick, G. D., Antzelevitch, C. A mutation in the beta-3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ. Cardiovasc. Genet. 2: 270-278, 2009.
2009
20031595item
item
item
item
item
item
item
item
item
536Huang, J., Han, C., Estacion, M., Vasylyev, D., Hoeijmakers, J. G., Gerrits, M. M., Tyrrell, L., Lauria, G., Faber, C. G., Dib-Hajj, S. D., Merkies, I. S. J., Waxman, S. G. Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. Brain 137: 1627-1642, 2014.
2014
24776970item
537Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain. 2008 Feb;131(Pt 2):329-37. Epub 2007 Dec 7.
2008
18065439item
538Hughes, C. A.; Byrne, P. C.; Webb, S.; McMonagle, P.; Patterson, V.; Hutchinson, M.; Parfrey, N. A. : SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology 56: 1230-1233, 2001.
2001
11342696item
539Huizing, M.; Iacobazzi, V.; IJlst, L.; Savelkoul, P.; Ruitenbeek, W.; van den Heuvel, L.; Indiveri, C.; Smeitink, J.; Trijbels, F; Wanders, R.; Palmieri, F. : Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. Am. J. Hum. Genet. 61: 1239-1245, 1997.
1997
9399886item
540Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J. Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. Neuromuscul Disord. 2010 Apr;20(4):238-40. Epub 2010 Mar 19.
2010
20303757item
541Hunter JM, Ahearn ME, Balak CD, Liang WS, Kurdoglu A, Corneveaux JJ, Russell M, Huentelman MJ, Craig DW, Carpten J, Coons SW, DeMello DE, Hall JG, Bernes SM, Baumbach-Reardon L. Mol Genet Genomic Med. 2015 Jul;3(4):283-301. doi: 10.1002/mgg3.142. Epub 2015 Apr 8.
2015
26247046item
542Huppke P, Wegener E, Gilley J, Angeletti C, Kurth I, Drenth JPH, Stadelmann C, Barrantes-Freer A, Brück W, Thiele H, Nürnberg P, Gärtner J, Orsomando G, Coleman MP. Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia. Exp Neurol. 2019 Oct;320:112958. PMID: 31132363
2019
31132363item
543Huttner IG, Kennerson ML, Reddel SW, Radovanovic D, Nicholson GA. Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. Neurology. 2006 Dec 12;67(11):2016-21.
2006
17159110item
544Huz²© C, Bauch²© S, Richard P, Chevessier F, Goillot E, Gaudon K, Ben Ammar A, Chaboud A, Grosjean I, Lecuyer HA, Bernard V, Rouche A, Alexandri N, Kuntzer T, Fardeau M, Fournier E, Brancaccio A, R²ºegg MA, Koenig J, Eymard B, Schaeffer L, Hanta²Ø D. Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. Am J Hum Genet. 2009 Aug;85(2):155-67. Epub 2009 Jul 23.
2009
19631309item
item
545Ichida, F.; Tsubata, S.; Bowles, K. R.; Haneda, N.; Uese, K.; Miyawaki, T.; Dreyer, W. J.; Messina, J.; Li, H.; Bowles, N. E.; Towbin, J. A. : Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103: 1256-1263, 2001.
2001
11238270item
item
item
546Ikeda, Y.; Dick, K. A.; Weatherspoon, M. R.; Gincel, D.; Armbrust, K. R.; Dalton, J. C.; Stevanin, G.; Durr, A.; Zuhlke, C.; Burk, K.; Clark, H. B.; Brice, A.; Rothstein, J. D.; Schut, L. J.; Day, J. W.; Ranum, L. P. W. : Spectrin mutations cause spinocerebellar ataxia type 5. Nature Genet. 38: 184-190, 2006.
2006
16429157item
547Ikeuchi T, Asaka T, Saito M, Tanaka H, Higuchi S, Tanaka K, Saida K, Uyama E, Mizusawa H, Fukuhara N, Nonaka I, Takamori M, Tsuji S. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol. 1997 Apr;41(4):432-7.
1997
9124799item
548Ikeuchi, T.; Shimohata, T.; Nakano, R.; Koide, R.; Takano, H.; Tsuji, S. : A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. Neurogenetics 2: 189-190, 1999.
1999
10541594item
549Iles DE, Lehmann-Horn F, Scherer SW, Tsui LC, Olde Weghuis D, Suijkerbuijk RF, Heytens L, Mikala G, Schwartz A, Ellis FR, et al. Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet. 1994 Jun;3(6):969-75.
1994
7951247item
550Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 1996 Nov;14(3):285-91.
1996
8896557item
551Inagaki N, Hayashi T, Arimura T, Koga Y, Takahashi M, Shibata H, Teraoka K, Chikamori T, Yamashina A, Kimura A. Alpha B-crystallin mutation in dilated cardiomyopathy. Biochem Biophys Res Commun. 2006 Apr 7;342(2):379-86. Epub 2006 Feb 8.
2006
16483541item
552Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M. A., Ohta, K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., Matsuda, I. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nature Genet. 13: 485-488, 1996.
1996
8696348item
item
553Indo, Y.; Glassberg, R.; Yokota, I.; Tanaka, K. : Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient. Am. J. Hum. Genet. 49: 575-580, 1991.
1991
1882842item
554Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I. COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. Ann Neurol. 2019 Jun 2. doi: 10.1002/ana.25517.
2019
31155743item
555Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet. 1996 Sep;5(9):1373-5.
1996
8872480item
556Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C. X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. Muscle Nerve. 1992 Mar;15(3):368-73.
1992
1557086item
item
557Irobi J, De Jonghe P, Timmerman V. Molecular genetics of distal hereditary motor neuropathies. Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R195-202. Review.
2004
15358725
558Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22.
2019
31332380
559Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. PMID:31332380
2019
31332380item
item
item
560Ismailov, S. M.; Fedotov, V. P.; Dadali, E. L.; Polyakov, A. V.; Van Broeckhoven, C.; Ivanov, V. I.; De Jonghe, P.; Timmerman, V.; Evgrafov, O. V. : A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Europ. J. Hum. Genet. 9: 646-650, 2001
2001
11528513item
item
561Isozumi, K.; DeLong, R.; Kaplan, J.; Deng, H.-X.; Iqbal, Z.; Hung, W.-Y.; Wilhelmsen, K. C.; Hentati, A.; Pericak-Vance, M. A.; Siddique, T. : Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. Hum. Molec. Genet. 5: 1377-1382, 1996.
1996
8872481item
562Itoh-Satoh, M.; Hayashi, T.; Nishi, H.; Koga, Y.; Arimura, T.; Koyanagi, T.; Takahashi, M.; Hohda, S.; Ueda, K.; Nouchi, T.; Hiroe, M.; Marumo, F.; Imaizumi, T.; Yasunami, M.; Kimura, A. : Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 291: 385-393, 2002.
2002
11846417item
563Izumi R., Warita H., Niihori T., et al. Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation. Neurol Genet 2015;1:e23.
2015
27066560item
564Jackson JF, Currier RD, Terasaki PI, Morton NE. Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. N Engl J Med. 1977 May 19;296(20):1138-41.
1977
857157item
565Jae, L. T., Raaben, M., Riemersma, M., van Beusekom, E., Blomen, V. A., Velds, A., Kerkhoven, R. M., Carette, J. E., Topaloglu, H., Meinecke, P., Wessels, M. W., Lefeber, D. J., Whelan, S. P., van Bokhoven, H., Brummelkamp, T. R. Deciphering the glycosylome of dystroglycanopathies using haploid screens for Lassa virus entry. Science 340: 479-483, 2013.
2013
23519211item
item
566Jansen, G. A.; Ofman, R.; Ferdinandusse, S.; Ijlst, L.; Muijsers, A. O.; Skjeldal, O. H.; Stokke, O.; Jakobs, C.; Besley, G. T. N.; Wraith, J. E.; Wanders, R. J. A. : Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nature Genet. 17: 190-193, 1997.
1997
9326940item
567Jarcho JA, McKenna W, Pare JA, Solomon SD, Holcombe RF, Dickie S, Levi T, Donis-Keller H, Seidman JG, Seidman CE. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med. 1989 Nov 16;321(20):1372-8.
1989
2811944item
568Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tetreault M, Loisel L, Bouchard JP and Brais B. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain 2007;130:368-80.
2007
17008331item
569Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC and Baloh RW. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007;130:2484-93.
2007
17575281item
item
570Jen, J. C.; Wan, J.; Palos, T. P.; Howard, B. D.; Baloh, R. W. : Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 65: 529-534, 2005.
2005
16116111item
571Jiang, H., Zhu, H.-P., Gomez, C. M. 2010. SCA32: an autosomal dominant cerebellar ataxia with azoospermia maps to chromosome 7q32-q33. (Abstract) Mov. Disord. 25: S192 only,.
2010
Abstractitem
572Jobsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, Baas F, Bolhuis PA. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet. 1996 Sep;14(1):113-5.
1996
8782832item
item
item
573Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet. 1997 Oct;6(11):1973-8.
1997
9302278item
item
item
574Johari M, Sarparanta J, Vihola A, Jonson PH, Savarese M, Jokela M, Torella A, Piluso G, Said E, Vella N, Cauchi M, Magot A, Magri F, Mauri E, Kornblum C, Reimann J, Stojkovic T, Romero NB, Luque H, Huovinen S, Lahermo P, Donner K, Comi GP, Nigro V, Hackman P, Udd B. Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. Acta Neuropathol. 2021 Aug;142(2):375-393. doi: 10.1007/s00401-021-02319-x. Epub 2021 May 11. PMID: 33974137; PMCID: PMC8270885.
2021
33974137item
575Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simón-Sánchez J, Clayton P, Reilly MM, Muntoni F, Abramzon Y, Houlden H, Singleton AB. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain. 2012 Sep;135(Pt 9):2875-82. Epub 2012 Jun 26.
2012
22740598item
item
576Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., Ding, J., McCluskey, L., and 25 others. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68: 857-864, 2010. Note: Erratum: Neuron 69: 397 only, 2011.
2011
21145000item
577Johnson, J. O., Pioro, E. P., Boehringer, A., Chia, R., Feit, H., Renton, A. E., Pliner, H. A., Abramzon, Y., Marangi, G., Winborn, B. J., Gibbs, J.R., Nalls, M. A., and 30 others. Mutations in the matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature Neurosci. 17: 664-666, 2014.
2014
24686783item
578Johnston, J. J.; Kelley, R. I.; Crawford, T. O.; Morton, D. H.; Agarwala, R.; Koch, T.; Schaffer, A. A.; Francomano, C. A.; Biesecker, L. G. : A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am. J. Hum. Genet. 67: 814-821, 2000.
2000
10952871item
579Jokela M, Lehtinen S, Palmio J, Saukkonen AM, Huovinen S, Vihola A, Udd B. A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy. J Neurol. 2019 Apr 8. doi: 10.1007/s00415-019-09307-y. Epub 2019 Apr 8.
2019
30963254item
580Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, Gettemans J, Thevelein JM, De Jonghe P, Kremensky I, Timmerman V. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet. 2006 Feb;38(2):197-202. Epub 2006 Jan 22.
2006
16429158item
581Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, Ishpekova B, De Vriendt E, Jacobs A, Litvinenko I, Ivanova N, Buzhov B, De Jonghe P, Kremensky I, Timmerman V. Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. Am J Hum Genet. 2003 Dec;73(6):1423-30. Epub 2003 Nov 6.
2003
14606043item
582Jordanova, A.; De Jonghe, P.; Boerkoel, C. F.; Takashima, H.; De Vriendt, E.; Ceuterick, C.; Martin, J.-J.; Butler, I. J.; Mancias, P.; Papasozomenos, S. C.; Terespolsky, D.; Potocki, L.; Brown, C. W.; Shy, M.; Rita, D. A.; Tournev, I.; Kremensky, I.; Lupski, J. R.; Timmerman, V. : Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126: 590-597, 2003.
2003
12566280item
583Josifova, D. J., Monroe, G. R., Tessadori, F., de Graaff, E., van der Zwaag, B., Mehta, S. G., the DDD study, Harakalova, M., Duran, K. J., Savelberg, S. M. C., Nijman, I. J., Jungbluth, H., Hoogenraad, C. C., Bakkers, J., Knoers, N. V., Firth, H. V., Beales, P. L., van Haaften, G., van Haelst, M. M. Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. Hum. Molec. Genet. 25: 2158-2167, 2016.
2016
27005418item
584Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet. 1994 Jul;7(3):402-7.
1994
7920659item
585Julius Rönkkö, Svetlana Molchanova, Anya Revah-Politi, Elaine M Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig , Julika Neumann , Geert Bultynck , Stéphanie Humblet-Baron  , Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B Harms, Henna Tyynismaa, Emil Ylikallio Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease Ann Clin Transl Neurol. 2020 Oct;7(10):1962-1972.
2020
32949214item
item
586Jung, M., I. Poepping, Perrot A, Ellmer AE, Wienker TF, Dietz R, Reis A, Osterziel KJ.. (1999). Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22. Am J Hum Genet 65(4): 1068-77.
1999
10486326item
587Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb S A, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry C A, Muller C, Muntoni F. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology 2005; 65: 1930-5.
2005
16380615item
588Jungbluth, H.; Muller, C. R.; Halliger-Keller, B.; Brockington, M.; Brown, S. C.; Feng, L.; Chattopadhyay, A.; Mercuri, E.; Manzur, A. Y.; Ferreiro, A.; Laing, N. G.; Davis, M. R.; Roper, H. P.; Dubowitz, V.; Bydder, G.; Sewry, C. A.; Muntoni, F. : Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology 59: 284-287, 2002.
2002
12136074item
589Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers PA, Lapie P, Vale-Santos JE, Weissenbach J, et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet. 1994 Aug;3(8):1415-9.
1994
7987325item
590Jurkat-Rott K, Mitrovic N, Hang C, Kouzmekine A, Iaizzo P, Herzog J, Lerche H, Nicole S, Vale-Santos J, Chauveau D, Fontaine B, Lehmann-Horn F. Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9549-54.
2000
10944223item
591Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet. 2000 Jul;67(1):47-58. Epub 2000 May 30.
2000
10831399item
592Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Georgieva V, Middleton L, Thomas PK. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet. 1996 Oct;14(2):214-7.
1996
8841199item
593Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000 Dec 7;343(23):1688-96.
2000
11106718item
item
594Kang L, Liu Y, Jin Y, Li M, Song J, Zhang Y, Zhang Y, Yang Y. Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy. Front Neurol. 2020 Jan 15;10:1335. doi: 10.3389/fneur.2019.01335. eCollection 2019.
2019
32010038item
595Kanno T, Sudo K, Takeuchi I, Kanda S, Honda N, Nishimura Y, Oyama K. Bivariate ratio monitoring in clinical laboratories. Am J Clin Pathol. 1981 Dec;76(6):782-7.
1981
7315796item
596Kara, E., Tucci, A., Manzoni, C., Lynch, D. S., Elpidorou, M., Bettencourt, C., Chelban, V., Manole, A., Hamed, S. A., Haridy, N. A., Federoff, M., Preza, E., and 17 others. genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 139: 1904-1918, 2016.
2016
27217339item
597Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, Keranen S, Peltonen L, Suomalainen A. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000; 289: 782-785
2000
10926541item
598Kausch K, Lehmann-Horn F, Janka M, Wieringa B, Grimm T, Muller CR. Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics. 1991 Jul;10(3):765-9.
1991
1889818item
599Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994 Nov;8(3):221-8.
1994
7874163item
600Kawarai, T., Tajima, A., Kuroda, Y., Saji, N., Orlacchio, A., Terasawa, H., Shimizu, H., Kita, Y., Izumi, Y., Mitsui, T., Imoto, I., Kaji, R. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability. J. Neurol. Neurosurg. Psychiat. 87: 656-662, 2016.
2016
26157035item
601Kayman-Kurekci G, Talim B, Korkusuz P, Sayar N, Sarioglu T, Oncel I, Sharafi P, Gundesli H, Balci-Hayta B, Purali N, Serdaroglu-Oflazer P, Topaloglu H, Dincer P. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. Neuromuscul Disord. 2014 Jul;24(7):624-33. doi: 10.1016/j.nmd.2014.04.007. Epub 2014 May 2.
2014
24856141item
602Kayman-Kurekci, G., Korkusuz, P., Dincer, P. Response (to Sewry and Gobel). (Letter) Neuromusc. Disord. 24: 1122 only, 2014.
2014
25193337
603Kayman-Kurekci, G., Talim, B., Korkusuz, P., Sayar, N., Sarioglu, T., Oncel, I., Sharafi, P., Gundesli, H., Balci-Hayta, B., Purali, N., Serdaroglu-Oflazer, P., Topaloglu, H., Dincer, P. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. Neuromusc. Disord. 24: 624-633, 2014.
2014
24856141
604Keating KE, Quane KA, Manning BM, Lehane M, Hartung E, Censier K, Urwyler A, Klausnitzer M, Muller CR, Heffron JJ, et al. Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. Hum Mol Genet. 1994 Oct;3(10):1855-8.
1994
7849712item
605Kenna, K. P., van Doormaal, P. T., Dekker, A. M., Ticozzi, N., Kenna, B. J., Diekstra, F. P., van Rheenen, W., van Eijk, K. R., Jones, A. R., Keagle, P., Shatunov, A., Sproviero, W., and 70 others. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genet. 48: 1037-1042, 2016.
2016
27455347item
606Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet. 2010 Mar 12;86(3):343-52. Epub 2010 Feb 18.
2010
20170900item
607Kennerson, M. L., Yiu, E. M., Chuang, D. T., Kidambi, A., Tso, S.-C., Ly, C., Chaudhry, R., Drew, A. P., Rance, G., Delatycki, M. B., Zuchner, S., Ryan, M. M., Nicholson, G. A. A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Hum. Molec. Genet. 22: 1404-1416, 2013.
2013
23297365item
608Kenwrick S, Ionasescu V, Ionasescu G, Searby C, King A, Dubowitz M, Davies KE. Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet. 1986 Jul;73(3):264-6.
1986
3460961item
609Keppen LD, Leppert MF, O'Connell P, Nakamura Y, Stauffer D, Lathrop M, Lalouel JM, White R. Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet. 1987 Nov;41(5):933-43.
1987
3479019item
610Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch Neurol. 2007 May;64(5):749-52.
2007
17502476item
611Khati C, Stevanin G, Durr A, Chneiweiss H, Belal S, Seck A, Cann H, Brice A, Agid Y. Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families. Neurology. 1993 Jun;43(6):1131-7.
1993
8170557item
612Kiiski KJ, Lehtokari VL, Vihola AK, et al. Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. Neuromuscul Disord. 2019;29(2):97-107. doi:10.1016/j.nmd.2018.12.007
2018
30679003item
613Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet. 2007 Sep;81(3):552-8. Epub 2007 Jun 29.
2007
17701900item
614Kim, H. J., Hong, Y. B., Park, J.-M., Choi, Y.-R., Kim, Y. J., Yoon, B. R., Koo, H., Yoo, J. H., Kim, S. B., Park, M., Chung, K. W., Choi, B.-O. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. Orphanet J. Rare Dis. 8: 104, 2013. Note: Electronic Article.
2013
23844677item
615Kim, H. J., Kim, N. C., Wang, Y.-D., Scarborough, E. A., Moore, J., Diaz, Z., MacLea, K. S., Freibaum, B., Li, S., Molliex, A., and 25 others. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 495: 467-473, 2013.
2013
23455423item
item
616Kim, M., Sandford, E., Gatica, D., Qiu, Y., Liu, X., Zheng, Y., Schulman, B. A., Xu, J., Semple, I., Ro, S.-H., Kim, B., Mavioglu, R. N., and 10 others. Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay. eLife 5: e12245, 2016. Note: Electronic Article.
2016
26812546item
617Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M. A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. Neurology. 2006 Aug 22;67(4):597-601.
2006
16924011item
618Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 1997 Aug;16(4):379-82.
1997
9241277item
619Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hurlimann, D., Yegibasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., Thierfelder, L. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 117: 2893-2901, 2008.
2008
18506004item
620Klar, J., Sobol, M., Melberg, A., Mabert, K., Ameur, A., Johansson, A. C. V., Feuk, L., Entesarian, M., Orlen, H., Casar-Borota, O., Dahl, N. Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. Hum. Mutat. 34: 572-577, 2013.
2013
23348830item
621Klebe, S.; Azzedine, H.; Durr, A.; Bastien, P.; Bouslam, N.; Elleuch, N.; Forlani, S.; Charon, C.; Koenig, M.; Melki, J.; Brice, A.; Stevanin, G. : Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain 129: 1456-1462, 2006.
2006
16434418item
622Klein, C. J., Botuyan, M. V., Wu, Y., Ward, C. J., Nicholson, G. A., Hammans, S., Hojo, K., Yamanishi, H., Karpf, A. R., Wallace, D. C., Simon, M., Lander, C., and 12 others. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nature Genet. 43: 595-600, 2011.
2011
21532572item
623Klein, C. J., Wu, Y., Vogel, P., Goebel, H. H., Bonnemann, C., Zukosky, K., Botuyan, M.-V., Duan, X., Middha, S., Atkinson, E. J., Mer, G., Dyck, P. J. Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. Neurology 82: 873-878, 2014.
2014
24500646item
624Klein, C. J.; Cunningham, J. M.; Atkinson, E. J.; Schaid, D. J.; Hebbring, S. J.; Anderson, S. A.; Klein, D. M.; Dyck, P. J. B.; Litchy, W. J.; Thibodeau, S. N.; Dyck, P. J. : The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology 60: 1151-1156, 2003.
2003
12682323item
item
625Klein, C.; Schilling, K.; Saunders-Pullman, R. J.; Garrels, J.; Breakefield, X. O.; Brin, M. F.; deLeon, D.; Doheny, D.; Fahn, S.; Fink, J. S.; Forsgren, L.; Friedman, J.; and 20 others : A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. Am. J. Hum. Genet. 67: 1314-1319, 2000.
2000
1102201item
626Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. Am J Hum Genet. 2016 Mar 3;98(3):473-89. doi: 10.1016/j.ajhg.2016.01.006.
2016
26924529item
item
item
item
item
item
item
item
item
item
item
item
627Knierim, E., Gill, E., Seifert, F., Morales-Gonzalez, S., Unudurthi, S. D., Hund, T. J., Stenzel, W., Schuelke, M. A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. Hum. Genet. 136: 903-910, 2017.
2017
28540413item
item
628Knight, M. A.; Gardner, R. J. M.; Bahlo, M.; Matsuura, T.; Dixon, J. A.; Forrest, S. M.; Storey, E. : Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain 127: 1172-1181, 2004.
2004
14998916item
629Knight, M. A.; Kennerson, M. L.; Anney, R. J.; Matsuura, T.; Nicholson, G. A.; Salimi-Tari, P.; Gardner, R. J. M.; Storey, E.; Forrest, S. M. : Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Neurobiol. Dis. 13: 147-157, 2003.
2003
12828938item
630Knoll R, Postel R, Wang J, Kratzner R, Hennecke G, Vacaru AM, Vakeel P, Schubert C, Murthy K, Rana BK, Kube D, Knoll G, Schafer K, Hayashi T, Holm T, Kimura A, Schork N, Toliat MR, Nurnberg P, Schultheiss H-P, Schaper W, Schaper J, Bos E, Hertog JD, van Eeden FJM, Peters PJ, Hasenfuss G, Chien KR and Bakkers J. Laminin-{alpha}4 and Integrin-Linked Kinase Mutations Cause Human Cardiomyopathy Via Simultaneous Defects in Cardiomyocytes and Endothelial Cells. Circulation 2007;116:515-525.
2007
17646580item
item
631Knoll, R.; Hoshijima, M.; Hoffman, H. M.; Person, V.; Lorenzen-Schmidt, I.; Bang, M.-L.; Hayashi, T.; Shiga, N.; Yasukawa, H.; Schaper, W.; McKenna, W.; Yokoyama, M.; and 9 others : The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 111: 943-955, 2002.
2002
12507422item
item
632Kobayashi H, Hoffman EP, Marks HG. The rumpshaker mutation in spastic paraplegia. Nat Genet. 1994 Jul;7(3):351-2.
1994
7522741item
633Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998 Jul 23;394(6691):388-92
1998
9690476item
634Kobayashi, H., Abe, K., Matsuura, T., Ikeda, Y., Hitomi, T., Akechi, Y., Habu, T., Liu, W., Okuda, H., Koizumi, A. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am. J. Hum. Genet. 89: 121-130, 2011.
2011
21683323item
635Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science. 1992 Aug 7;257(5071):797-800.
1992
1379744item
item
item
item
636Koch, M.; Harley, H.; Sarfarazi, M.; Bender, K.; Wienker, T.; Zoll, B.; Harper, P. S. : Myotonia congenita (Thomsen's disease) excluded from the region of the myotonic dystrophy locus on chromosome 19. Hum. Genet. 82: 163-166, 1989.
1989
2722193item
637Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987 Jul 31;50(3):509-17.
1987
3607877item
638Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 1988 Apr 22;53(2):219-26.
1988
3282674item
639Koide, R.; Kobayashi, S.; Shimohata, T.; Ikeuchi, T.; Maruyama, M.; Saito, M.; Yamada, M.; Takahashi, H.; Tsuji, S. : A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum. Molec. Genet. 8: 2047-2053, 1999.
1999
10484774item
640Kok, C.; Kennerson, M. L.; Spring, P. J.; Ing, A. J.; Pollard, J. D.; Nicholson, G. A. : A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. Am. J. Hum. Genet. 73: 632-637, 2003.
2003
12870133item
item
641Kolb, S. J., Snyder, P. J., Poi, E. J., Renard, E. A., Bartlett, A., Gu, S., Sutton, S., Arnold, W. D., Freimer, M. L., Lawson, V. H., Kissel, J. T., Prior, T. W. Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Neurology 74: 502-506, 2010.
2010
20142617item
642Kölbel H, Roos A, van der Ven PFM, Evangelista T, Nolte K, Johnson K, Töpf A, Wilson M, Kress W, Sickmann A, Straub V, Kollipara L, Weis J, Fürst DO, Schara U. First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC. Hum Mutat. 2020 Sep;41(9):1600-1614. doi: 10.1002/humu.24062. Epub 2020 Jul 11. PMID: 32516863
2020
32516863item
643Kollberg G, Tulinius M, Gilljam T, ²ñstman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E. Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. N Engl J Med. 2007 Oct 11;357(15):1507-14.
2007
17928598item
item
644Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nat Genet. 1999 Apr;21(4):379-84.
1999
10192387item
645Kornak, U., Mademan, I., Schinke, M., Voigt, M., Krawitz, P., Hecht, J., Barvencik, F., Schinke, T., Giesselmann, S., Beil, F. T., Pou-Serradell, A., Vilchez, J. J., and 11 others. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain 137: 683-692, 2014.
2014
24459106item
646Kornblum, C., Nicholls, T. J., Haack, T. B., Scholer, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., Wieland, T., Sciacco, M., and 13 others. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nature Genet. 45: 214-219, 2013.
2013
23313956item
647Koutsopoulos, O. S., Kretz, C., Weller, C. M., Roux, A., Mojzisova, H., Bohm, J., Koch, C., Toussaint, A., Heckel, E., Stemkens, D., ter Horst, S. A. J., Thibault, C., Koch, M., Mehdi, S. Q., Bijlsma, E. K., Mandel, J.-L., Vermot, J., Laporte, J. Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. Europ. J. Hum. Genet. 21: 637-642, 2013.
2013
23092955item
648Kovach, M. J.; Lin, J.-P.; Boyadjiev, S.; Campbell, K.; Mazzeo, L.; Herman, K.; Rimer, L. A.; Frank, W.; Llewellyn, B.; Jabs, E. W.; Gelber, D.; Kimonis, V. E. : A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am. J. Hum. Genet. 64: 1580-1593, 1999.
1999
10330345item
649Krajinovic, M.; Pinamonti, B.; Sinagra, G.; Vatta, M.; Severini, G. M.; Milasin, J.; Falaschi, A.; Camerini, F.; Giacca, M.; Mestroni, L.; Heart Muscle Disease Study Group : Linkage of familial dilated cardiomyopathy to chromosome 9. Am. J. Hum. Genet. 57: 846-852, 1995.
1995
7573045item
650Kranz, C., Jungeblut, C., Denecke, J., Erlekotte, A., Sohlbach, C., Debus, V., Kehl, H. G., Harms, E., Reith, A., Reichel, S., Grobe, H., Hammersen, G., Schwarzer, U., Marquardt, T. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am. J. Hum. Genet. 80: 433-440, 2007.
2007
17273964item
651Kubisch, C.; Ketelsen, U.-P.; Goebel, I.; Omran, H. :PubMed ID : 12666119 2. Kubisch, C.; Ketelsen, U.-P.; Goebel, I.; Omran, H. : Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. (Letter) Ann. Neurol. 57: -304, 2005.
2005
15668980item
652Kubisch, C.; Schoser, B. G. H.; v. During, M.; Betz, R. C.; Goebel, H.-H.; Zahn, S.; Ehrbrecht, A.; Aasly, J.; Schroers, A.; Popovic, N.; Lochmuller, H.; Schroder, J. M.; Bruning, T.; Malin, J.-P.; Fricke, B.; Meinck, H.-M.; Torbergsen, T.; Engels, H.; Voss, B.; Vorgerd, M. : Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Ann. Neurol. 53: 512-520, 2003.
2003
12666119item
653Kuhl A, Melberg A, Meinl E, N²ºrnberg G, N²ºrnberg P, Kehrer-Sawatzki H, Jenne DE. Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. Eur J Hum Genet. 2008 Mar;16(3):367-73. Epub 2008 Jan 16.
2008
18197198item
654Kulkens T, Bolhuis PA, Wolterman RA, Kemp S, te Nijenhuis S, Valentijn LJ, Hensels GW, Jennekens FG, de Visser M, Hoogendijk JE, et al. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet. 1993 Sep;5(1):35-9.
1993
7693130item
655Kurth, I., Pamminger, T., Hennings, J. C., Soehendra, D., Huebner, A. K., Rotthier, A., Baets, J., Senderek, J., Topaloglu, H., Farrell, S. A., Nurnberg, G., Nurnberg, P., De Jonghe, P., Gal, A., Kaether, C., Timmerman, V., Hubner, C. A. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nature Genet. 41: 1179-1181, 2009.
2009
19838196item
656Kwiatkowski TJ, Jr., Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE and Brown RH, Jr. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009;323:1205-8.
2009
19251627item
657Kwon, J. M.; Elliott, J. L.; Yee, W.-C.; Ivanovich, J.; Scavarda, N. : Charcot-Marie-Tooth type II locus to chromosome 3q. Am. J. Hum. Genet. 57: 853-858, 1995.
1995
7573046item
658Kyndt F, Gueffet J P, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch S A, Newbury-Ecob R, Tran V, Young I, Trochu J N, Le Marec H, Schott J J. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation 2007; 115: 40-9.
2007
17190868item
659Kyndt, F.; Schott, J.-J.; Trochu, J.-N.; Baranger, F.; Herbert, O.; Scott, V.; Fressinaud, E.; David, A.; Moisan, J.-P.; Bouhour, J.-B.; Le Marec, H.; Benichou, B. : Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. Am. J. Hum. Genet. 62: 627-632, 1998.
1998
9497244item
660La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991 Jul 4;352(6330):77-9.
1991
2062380item
661Lacomino M, Fiorillo C, Torella A, Severino M, Broda P, Romano C, Falsaperla R, Pozzolini G, Minetti C, Striano P, Nigro V, Zara F. Spinal motor neuron involvement in a patient with homozygous PRUNE mutation. Eur J Paediatr Neurol. 2018 May;22(3):541-543. doi: 10.1016/j.ejpn.2017.12.005. Epub 2017 Dec 18.
2017
293077item
662Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R, Pryse-Phillips W, Goldberg YP, Younghusband HB, Hayden MR, Sherrington R, Rouleau GA and Samuels ME. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet 2004;74:1064-73.
2004
15060842item
item
663Lagier-Tourenne C, Tazir M, L²≥pez LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet. 2008 Mar;82(3):661-72.
2008
18319074item
item
item
664Lagier-Tourenne C, Tranebaerg L, Chaigne D, Gribaa M, Dollfus H, Silvestri G, Betard C, Warter JM, Koenig M. Eur J Hum Genet. 2003 Oct;11(10):770-8.
2003
14512967item
665Lahat, H.; Pras, E.; Olender, T.; Avidan, N.; Ben-Asher, E.; Man, O.; Levy-Nissenbaum, E.; Khoury, A.; Lorber, A.; Goldman, B.; Lancet, D.; Eldar, M. : A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am. J. Hum. Genet. 69: 1378-1384, 2001.
2001
11704930item
666Laing NG, Laing BA, Meredith C, et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet 1995;56:422-427.
1995
7847377item
667Laing NG, Majda BT, Akkari PA, Layton MG, Mulley JC, Phillips H, Haan EA, White SJ, Beggs AH, Kunkel LM, et al. Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. Am J Hum Genet. 1992 Mar;50(3):576-83.
1992
1347195item
668Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, Blumbergs P, White S, Watkins H, Love DR, et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet. 1995 Jun;10(2):249.
1995
7663526item
669Laing, N. G.; Ceuterick-de Groote, C.; Dye, D. E.; Liyanage, K.; Duff, R. M.; Dubois, B.; Robberecht, W.; Sciot, R.; Martin, J.-J.; Goebel, H. H. : Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. Neurology 64: 527-529, 2005.
2005
15699387item
670Laing, N. G.; Clarke, N. F.; Dye, D. E.; Liyanage, K.; Walker, K. R.; Kobayashi, Y.; Shimakawa, S.; Hagiwara, T.; Ouvrier, R.; Sparrow, J. C.; Nishino, I.; North, K. N.; Nonaka, I. : Actin mutations are one cause of congenital fibre type disproportion. Ann. Neurol. 56: 689-694, 2004.
2004
15468086item
671Laitinen-Forsblom, P. J., Makynen, P., Makynen, H., Yli-Mayry, S., Virtanen, V., Kontula, K., Aalto-Setala, K. SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias. J. Cardiovasc. Electrophysiol. 17: 480-485, 2006.
2006
16684018item
672Laitinen, P. J.; Brown, K. M.; Piippo, K.; Swan, H.; Devaney, J. M.; Brahmbhatt, B.; Donarum, E. A.; Marino, M.; Tiso, N.; Viitasalo, M.; Toivonen, L.; Stephan, D. A.; Kontula, K. : Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 103: 485-490, 2001.
2001
11157710item
673Lakhani, S., Doan, R., Almureikhi, M., Partlow, J. N., Al Saffar, M., Elsaid, M. F., Alaaraj, N., Barkovich, A. J., Walsh, C. A., Ben-Omran, T. Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. Europ. J. Med. Genet. 60: 245-249, 2017.
2017
28254648item
674Landoure, G., Zdebik, A. A., Martinez, T. L., Burnett, B. G., Stanescu, H. C., Inada, H., Shi, Y., Taye, A. A., Kong, L., Munns, C. H., Choo, S. S., Phelps, C. B., and 8 others Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nature Genet. 42: 170-174, 2010.
2010
20037586item
675Landoure, G., Zhu, P.-P., Lourenco, C. M., Johnson, J. O., Toro, C., Bricceno, K. V., Rinaldi, C., Melleur, K. G., Sangare, M., Diallo, O., Pierson, T. M., Ishiura, H., and 19 others. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum. Mutat. 34: 1357-1360, 2013.
2013
23857908item
676Landstrom AP, Adekola BA, Bos JM, Ommen SR, Ackerman MJ. PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. Am Heart J. 2011 Jan;161(1):165-71.
2011
21167350item
677Landstrom AP, Parvatiyar MS, Pinto JR, Marquardt ML, Bos JM, Tester DJ, Ommen SR, Potter JD, Ackerman MJ. Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. J Mol Cell Cardiol. 2008 Aug;45(2):281-8. Epub 2008 May 11.
2008
18572189item
678Landstrom AP, Weisleder N, Batalden KB, Bos JM, Tester DJ, Ommen SR, Wehrens XH, Claycomb WC, Ko JK, Hwang M, Pan Z, Ma J, Ackerman MJ. Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. J Mol Cell Cardiol. 2007 Jun;42(6):1026-35. Epub 2007 Apr 18.
2007
17509612item
679Lange S, Xiang F, Yakovenko A, Vihola A, Hackman P, Rostkova E, Kristensen J, Brandmeier B, Franzen G, Hedberg B, Gunnarsson LG, Hughes SM, Marchand S, Sejersen T, Richard I, Edstrom L, Ehler E, Udd B, Gautel M. The kinase domain of titin controls muscle gene expression and protein turnover. Science. 2005 Jun 10;308(5728):1599-603. Epub 2005 Mar 31.
2005
15802564item
680Laporte J, Guiraud-Chaumeil C, Vincent MC, Mandel JL, Tanner SM, Liechti-Gallati S, Wallgren-Pettersson C, Dahl N, Kress W, Bolhuis PA, Fardeau M, Samson F, Bertini E. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Hum Mol Genet. 1997 Sep;6(9):1505-11.
1997
9305655item
681Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet. 1996 Jun;13(2):175-82.
1996
8640223item
682Laporte, J.; Biancalana, V.; Tanner, S. M.; Kress, W.; Schneider, V.; Wallgren-Pettersson, C.; Herger, F.; Buj-Bello, A.; Blondeau, F.; Liechti-Gallati, S.; Mandel, J.-L. : MTM1 mutations in X-linked myotubular myopathy. Hum. Mutat. 15: 393-409, 2000.
2000
10790201item
683Laquerriere, A., Maluenda, J., Camus, A., Fontenas, L., Dieterich, K., Nolent, F., Zhou, J., Monnier, N., Latour, P., Gentil, D., Heron, D., Desguerres, I., and 48 others. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum. Molec. Genet. 23: 2279-2289, 2014.
2014
24319099item
item
684Laquerriere, A., Maluenda, J., Camus, A., Fontenas, L., Dieterich, K., Nolent, F., Zhou, J., Monnier, N., Latour, P., Gentil, D., Heron, D., Desguerres, I., and 48 others. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum. Molec. Genet. 23: 2279-2289, 2014.
2014
24319099
685Larson AA, Baker PR 2nd, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA. TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of ?-dystroglycan and muscular dystrophy. Skelet Muscle. 2018 May 31;8(1):17. doi: 10.1186/s13395-018-0163-0.
2018
29855340item
item
item
item
item
item
686Lassuthova, P., Rebelo, A. P., Ravenscroft, G., Lamont, P. J., Davis, M. R., Manganelli, F., Feely, S. M., Bacon, C., Brozkova, D. S., Haberlova, J., Mazanec, R., Tao, F., and 22 others. Mutations in ATP1A1 cause dominant Charcot-Marie-Tooth type 2. Am. J. Hum. Genet. 102: 505-514, 2018.
2018
29499166item
687Latour, P., Thauvin-Robinet, C., Baudelet-Mery, C., Soichot, P., Cusin, V., Faivre, L., Locatelli, M.-C., Mayencon, M., Sarcey, A., Broussolle, E., Camu, W., David, A., Rousson, R. A major determinant for binding and aminoacylation of tRNA-Ala in cytoplasmic alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth Disease. Am. J. Hum. Genet. 86: 77-82, 2010.
2010
20045102item
688Leal A, Bogantes-Ledezma S, Ekici AB, Uebe S, Thiel CT, Sticht H, Berghoff M, Berghoff C, Morera B, Meisterernst M, Reis A. The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. Neurogenetics. 2018 Jul 24. doi: 10.1007/s10048-018-0555-7.
2018
30039206item
689Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernandez E, Mendez M, Hennies HC, Neundorfer B, Barrantes R, Reis A, Rautenstrauss B. A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. Am J Hum Genet. 2001 Jan;68(1):269-74. Epub 2000 Dec 07.
2001
11112660
690Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., and 15 others Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics 10: 275-287, 2009.
2009
19290556item
691Lebo RV, Gorin F, Fletterick RJ, Kao FT, Cheung MC, Bruce BD, Kan YW. High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11. Science. 1984 Jul 6;225(4657):57-9.
1984
6587566item
692Lee CY, Petkova M, Morales-Gonzalez S, Gimber N, Schmoranzer J, Meisel A, Böhmerle W, Stenzel W, Schuelke M, Schwarz JM. A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome. Neuropathol Appl Neurobiol. 2020 Oct;46(6):588-601. doi: 10.1111/nan.12617. Epub 2020 May 7. PMID: 32267004.
2020
32267004item
693Lee Y, Jonson PH, Sarparanta J, et al. TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. J Clin Invest. 2018;128(3):1164-1177. doi:10.1172/JCI97103
2018
29457785item
694Lee, S.-S, Lee, HJ., Park, J-M., et al. Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene. JAMA Neurol. 2013; 70: 607– 615,.
2013
23553329item
695Lee, Y.-C., Durr, A., Majczenko, K., Huang, Y.-H., Liu, Y.-C., Lien, C.-C., Tsai, P.-C., Ichikawa, Y., Goto, J., Monin, M.-L., Li, J. Z., Chung, M.-Y., and 10 others. Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann. Neurol. 72: 859-869, 2012.
2012
23280837item
696Lefeber, D. J., de Brouwer, A. P. M., Morava, E., Riemersma, M., Schuurs-Hoeijmakers, J. H. M., Absmanner, B., Verrijp, K., van den Akker, W. M. R., Huijben, K., Steenbergen, G., van Reeuwijk, J., Jozwiak, A., and 10 others. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet. 7: e1002427, 2011. Note: Electronic Article.
2011
22242004item
697Lefeber, D. J., Schonberger, J., Morava, E., Guillard, M., Huyben, K. M., Verrijp, J., Grafakou, O., Evangeliou, A., Preijers, F. W., Manta, P., Yildiz, J., Grunewald, S., and 11 others. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am. J. Hum. Genet. 85: 76-86, 2009.
2009
19576565item
item
item
item
698Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995 Jan 13;80(1):155-65.
1995
7813012item
item
699Lefevre, C.; Jobard, F.; Caux, F.; Bouadjar, B.; Karaduman, A.; Heilig, R.; Lakhdar, H.; Wollenberg, A.; Verret, J.-L.; Weissenbach, J.; Ozguc, M.; Lathrop, M.; Prud'homme, J.-F.; Fischer, J. : Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am. J. Hum. Genet. 69: 1002-1012, 2001.
2001
11590543item
700LeGuern E, Guilbot A, Kessali M, Ravise N, Tassin J, Maisonobe T, Grid D, Brice A. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum Mol Genet. 1996 Oct;5(10):1685-8.
1996
8894708item
701Lehtokari V L, Ceuterick-de Groote C, de Jonghe P, Marttila M, Laing N G, Pelin K, Wallgren-Pettersson C. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord 2007; 17: 433-42.
2007
17434307item
702Lehtokari, V.-L.; Pelin, K.; Sandbacka, M.; Ranta, S.; Donner, K.; Muntoni, F.; Sewry, C.; Angelini, C.; Bushby, K.; Van den Bergh, P.; Iannaccone, S.; Laing, N. G.; Wallgren-Pettersson, C. : Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum. Mutat. 27: 946-956, 2006.
2006
16917880item
703Leipold, E., Liebmann, L., Korenke, G. C., Heinrich, T., Giesselmann, S., Baets, J., Ebbinghaus, M., Goral, R. O., Stodberg, T., Hennings, J. C., Bergmann, M., Altmuller, J., and 11 others. A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nature Genet. 45: 1399-1404, 2013.
2013
24036948item
704Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nature Genet. 44: 1370–1374, 2012.
2012
23143600item
705Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Cama²±o P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science. 2010 Sep 24;329(5999):1650-3. Epub 2010 Aug 19.
2010
20724583item
706Leoni TB, González-Salazar C, Rezende TJR, Hernández ALC, Mattos AHB, Coimbra Neto AR, da Graça FF, Gonçalves JPN, Martinez ARM, Taniguti L, Kitajima JP, Kok F, Rogério F, da Silva AMS, de Oliveira ALR, Zanoteli E, Nucci A, França MC Jr. A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant. Ann Neurol. 2021 Aug;90(2):239-252. doi: 10.1002/ana.26136. Epub 2021 Jun 14. PMID: 34048612
2021
34048612item
707Lerche H, Heine R, Pika U, George AL Jr, Mitrovic N, Browatzki M, Weiss T, Rivet-Bastide M, Franke C, Lomonaco M, et al. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol. 1993 Oct;470:13-22.
1993
8308722item
708Leung CL, He CZ, Kaufmann P, Chin SS, Naini A, Liem RK, Mitsumoto H, Hays AP. A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis. Brain Pathol. 2004 Jul;14(3):290-6.
2004
15446584item
709Levitas, A., Muhammad, E., Harel, G., Saada, A., Caspi, V. C., Manor, E., Beck, J. C., Sheffield, V., Parvari, R. Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. Europ. J. Hum. Genet. 18: 1160-1165, 2010.
2010
20551992item
710Levitt RC, Olckers A, Meyers S, Fletcher JE, Rosenberg H, Isaacs H, Meyers DA. Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. Genomics. 1992 Nov;14(3):562-6.
1992
1427885item
711Li D, Ahmad F. Gardner MJ, Weilbaecher D, Hill R, Karibe A, Gonzalez O, Tapscott T, Sharratt GP. Bachinski LL, Roberts R. The locus of a novel gene responsible for arrhythmogenic right- ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14. Am J Hum Genet 2000;66:148-156.
2000
10631146item
712Li D, Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Partain J, Nixon RR, Allen CN, Irwin RP, Jakobs PM, Litt M, Hershberger RE. Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am J Hum Genet. 2006 Dec;79(6):1030-9. Epub 2006 Oct 24.
2006
17186461item
item
713Li N, Wang L, Sun X, Lu Z, Suo X, Li J, Peng J, Peng R. A novel mutation in VRK1 associated with distal spinal muscular atrophy. J Hum Genet. 2019 Jan 7. doi: 10.1038/s10038-018-0553-5.
2019
30617279item
714Li, D.; Tapscoft, T.; Gonzalez, O.; Burch, P. E.; Quinones, M. A.; Zoghbi, W. A.; Hill, R.; Bachinski, L. L.; Mann, D. L.; Roberts, R. : Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 100: 461-464, 1999.
1999
10430757item
715Li, R.-G., Wang, Q., Xu, Y.-J., Zhang, M., Qu, X.-K., Liu, X., Fang, W.-Y., Yang, Y.-Q. Mutations of the SCN4B-encoded sodium channel beta-4 subunit in familial atrial fibrillation. Int. J. Molec. Med. 32: 144-150, 2013.
2013
23604097item
716Li, X., Hu, Z., Liu, L., Xie, Y., Zhan, Y., Zi, X., Wang, J., Wu, L., Xia, K., Tang, B., Zhang, R. A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. Neurology 84: 2430-2437, 2015.
2015
26078401item
717Li,M, Pang, S.Y.Y. Song, Y., Kung, M. H. W., Ho, S.-L., Sham, P.-C. Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family. Clin. Genet. 83: 269-273, 2013.
2013
22554020item
718Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Ann Neurol. 2011 Jun;69(6):1005-13. doi: 10.1002/ana.22338. Epub 2011 Mar 9.
2011
21391237item
719Liang WC, Zhu W, Mitsuhashi S, Noguchi S, Sacher M, Ogawa M, Shih HH, Jong YJ, Nishino I. Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. Skelet Muscle. 2015 Aug 28;5:29. doi: 10.1186/s13395-015-0056-4. eCollection 2015.
2015
26322222item
item
item
720Liewluck T, Milone M, Mauermann ML, Castro-Couch M, Cerhan JH, Murthy NS. A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers. Muscle Nerve. 2014 Aug;50(2):295-9. doi: 10.1002/mus.24290. Epub 2014 Jul 14.
2014
24838343item
721Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 1995 Nov;11(3):257-65.
1995
7581448item
722Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y. A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). Am J Hum Genet. 2008 Dec;83(6):752-9.
2008
19061983item
723Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001 Aug 3;293(5531):864-7.
2001
11486088item
724Lise, S., Clarkson, Y., Perkins, E., Kwasniewska, A., Sadighi Akha, E., Schnekenberg, R. P., Suminaite, D., Hope, J., Baker, I., Gregory, L., Green, A., Allan, C., and 20 others. Recessive mutations in SPTBN2 implicate beta-III spectrin in both cognitive and motor development. PLoS Genet. 8: e1003074, 2012. Note: Electronic Article
2012
23236289item
725Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet. 1998 Sep;20(1):31-6.
1998
9731526item
item
726Liu YT, Laurá M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Pittman A, Hughes D, Polke JM, Sweeney MG, Proukakis C, Janssen JC, Auer-Grumbach M, Zuchner S, Shields KG, Reilly MM, Houlden H. Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology. 2014 Aug 12;83(7):612-9. doi: 10.1212/WNL.0000000000000691. Epub 2014 Jul 9.
2014
25008398item
727Ljunggren A, Duggan D, McNally E, Boylan KB, Gama CH, Kunkel LM, Hoffman EP. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol. 1995 Sep;38(3):367-72.
1995
7668821item
728Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R; UK10K Consortium, Duchen MR, Muntoni F, Sheridan E. Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet. 2014 Feb;46(2):188-93. doi: 10.1038/ng.2851. Epub 2013 Dec 15. PMID: 24336167
2014
24336167item
729Logan, C. V., Cossins, J., Rodriguez Cruz, P. M., Parry, D. A., Maxwell, S., Martinez-Martinez, P., Riepsaame, J., Abdelhamed, Z. A., Lake, A. V. R., Moran, M., Robb, S., Chow, G., Sewry, C., Hopkins, P. M., Sheridan, E., Jayawant, S., Palace, J., Johnson, C. A., Beeson, D. Congenital myasthenic syndrome type 19 is caused by mutations in COL13A1, encoding the atypical non-fibrillar collagen type XIII alpha-1 chain. Am. J. Hum. Genet. 97: 878-885, 2015.
2015
26626625item
730Logan, C. V., Lucke, B., Pottinger, C., Abdelhamed, Z. A., Parry, D. A., Szymanska, K., Diggle, C. P., van Riesen, A., Morgan, J. E., Markham, G., Ellis, I., Manzur, A. Y., and 12 others. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nature Genet. 43: 1189-1192, 2011.
2011
22101682item
item
731London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL, Madhusudanan M, Baty CJ, Lagana S, Aleong R, Gutmann R, Ackerman MJ, McNamara DM, Weiss R, Dudley SC Jr. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation. 2007 Nov 13;116(20):2260-8. Epub 2007 Oct 29.
2007
17967977item
732Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 2006;78:1026-1034
2006
16685652item
733Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet. 2003 Nov 1;12(21):2853-61. Epub 2003 Sep 9
2003
12966029item
734Lopez-Bigas N, Olivé M, Rabionet R, Ben-David O, Martínez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbonés ML, Estivill X. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet. 2001 Apr 15;10(9):947-52.
2001
11309368item
item
item
735Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J. ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol. 2019 Jan 30. doi: 10.1007/s00401-019-01963-8.
2019
30701273
736Lornage X., Malfatti E., Chéraud C., Schneider R.,
2017
28220527item
item
737Loseth S, Voermans NC, Torbergsen T, et al. A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol 2013;260:1504–10.
2013
23329375item
item
item
item
item
item
item
item
item
item
item
item
item
item
item
item
item
item
item
item
item
738Lossos, A., Elazar, N., Lerer, I., Schueler-Furman, O., Fellig, Y., Glick, B., Zimmerman, B.-E., Azulay, H., Dotan, S., Goldberg, S., Gomori, J. M., Ponger, P., and 10 others. Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder. Brain 138: 2521-2536, 2015.
2015
26179919item
739Lossos, A., Stumpfig, C., Stevanin, G., Gaussen, M., Zimmerman, B.-E., Mundwiller, E., Asulin, M., Chamma, L., Sheffer, R., Misk, A., Dotan, S., Gomori, J. M., Ponger, P., Brice, A., Lerer, I., Meiner, V., Lill, R. Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. Neurology 84: 659-667, 2015.
2015
25609768item
740Luedde, M., Ehlermann, P., Weichenhan, D., Will, R., Zeller, R., Rupp, S., Muller, A, Steen, H., Ivandic, B. T., Ulmer, H. E., Kern, M., Katus, H. A., Frey, N. Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. Cardiovasc. Res. 86: 452-460, 2010.
2010
20083571item
741Luxan, G., Casanova, J. C., Martinez-Poveda, B., Prados, B., D'Amato, G., MacGrogan, D., Gonzalez-Rajal, A., Dobarro, D., Torroja, C., Martinez, F., Izquierdo-Garcia, J. L., Fernandez-Friera, L., and 10 others. Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. Nature Med. 19: 193-201, 2013.
2013
23314057item
742M²§kel²§-Bengs P, J²§rvinen N, Vuopala K, Suomalainen A, Ignatius J, Sipil²§ M, Herva R, Palotie A, Peltonen L. Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. Am J Hum Genet. 1998 Aug;63(2):506-16.
1998
9683599item
743Macedo-Souza, L. I., Kok, F., Santos, S., Licinio, L., Lezirovitz, K., Nascimento, R. M. P., Bueno, C., Martyn, M., Leao, E. K. E. A., Zatz, M. Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25. Neurogenetics 9: 225-226, 2008.
2008
18463901item
744MacLennan DH, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk RG, Frodis W, Britt BA, Worton RG. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature. 1990 Feb 8;343(6258):559-61.
1990
1967823item
745Maeda, K., Kaji, R., Yasuno, K., Jambaldorj, J., Nodera, H., Takashima, H., Nakagawa, M., Makino, S., Tamiya, G. Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity. J. Hum. Genet. 52: 907-914, 2007.
2007
17906970item
746Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K and Mandel H. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am J Hum Genet 2008;83:30-42.
2008
18571143item
747Magini, P., Smits, D. J., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., van der Ent, M., Palombo, F., Lequin, M. H., Dremmen, M., de Wit, M. C. Y., Severino, M., and 40 others. Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis. Am. J. Hum. Genet. 105: 689-705, 2019.
2019
31495489item
748Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O'Hoy K, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science. 1992 Mar 6;255(5049):1253-5.
1992
1546325item
749Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ. Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies. Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26.
2018
29498452item
750Malfatti E, Catchpool T, Nouioua S, Sihem H, Fournier E, Carlier RY, Cardone N, Davis MR, Laing NG, Sternberg D, Ravenscroft G. A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease. Neuropathol Appl Neurobiol. 2021 Jun 23. doi: 10.1111/nan.12743. Epub ahead of print. PMID: 34164833
2021
34164833item
751Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A. A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol. 2014 Oct 1. doi: 10.1002/ana.24284.
2014
25272951item
item
752Malfatti, E., Bohm, J., Lacene, E., Beuvin, M., Brochier, G., Romero, N. B., Laporte, J. A premature stop codon in MYO18B is associated with severe nemaline myopathy with cardiomyopathy. J. Neuromusc. Dis. 2: 219-227, 2015.
2015
27858739item
753Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. Hum Mutat. 2018 Jan;39(1):69-79. doi: 10.1002/humu.23345. Epub 2017 Nov 8. PMID: 29044765; PMCID: PMC5722658.
2018
29044765item
754Mallaret, M., Synofzik, M., Lee, J., Sagum, C. A., Mahajnah, M., Sharkia, R., Drouot, N., Renaud, M., Klein, F. A. C., Anheim, M., Tranchant, C., Mignot, C., Mandel, J.-L., Bedford, M., Bauer, P., Salih, M. A., Schule, R., Schols, L., Aldaz, C. M., Koenig, M. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain 137: 411-419, 2014.
2014
24369382item
755Maluenda, J., Manso, C., Quevarec, L., Vivanti, A., Marguet, F., Gonzales, M., Guimiot, F., Petit, F., Toutain, A., Whalen, S., Grigorescu, R., Coeslier, A. D., Gut, M., Gut, I., Laquerriere, A., Devaux, J., Melki, J. Mutations in GLDN, encoding gliomedin, a critical component of the nodes of Ranvier, are responsible for lethal arthrogryposis. Am. J. Hum. Genet. 99: 928-933, 2016.
2016
27616481item
756Mancuso, M.; Filosto, M.; Bellan, M.; Liguori, R.; Montagna, P.; Baruzzi, A.; DiMauro, S.; Carelli, V. : POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Neurology 62: 316-318, 2004.
2004
14745080item
757Mandel, H., Szargel, R., Labay, V., Elpeleg, O., Saada, A., Shalata, A., Anbinder, Y., Berkowitz, D., Hartman, C., Barak, M., Eriksson, S., Cohen, N. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genet. 29: 337-341, 2001. Note: Erratum: Nature Genet. 29: 491 only, 2001.
2001
11687800item
758Mannan, A. U.; Krawen, P.; Sauter, S. M.; Boehm, J.; Chronowska, A.; Paulus, W.; Neesen, J.; Engel, W. : ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am. J. Hum. Genet. 79: 351-357, 2006.
2006
16826525item
759item
760Manzini, M. C., Tambunan, D. E., Hill, R. S., Yu, T. W., Maynard, T. M., Heinzen, E. L., Shianna, K. V., Stevens, C. R., Partlow, J. N., Barry, B. J., Rodriguez, J., Gupta, V. A., and 10 others. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am. J. Hum. Genet. 91: 541-547, 2012.
2012
22958903item
761Margolin, D. H., Kousi, M., Chan, Y.-M., Lim, E. T., Schmahmann, J. D., Hadjivassiliou, M., Hall, J. E., Adam, I., Dwyer, A., Plummer, L., Aldrin, S. V., O'Rourke, J., and 9 others. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. New Eng. J. Med. 368: 1992-2003, 2013.
2013
23656588item
762Mariman EC, Gabreels-Festen AA, van Beersum SE, Jongen PJ, van de Looij E, Baas F, Bolhuis PA, Ropers HH, Gabreels FJ. Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies. Hum Genet. 1994 Feb;93(2):151-6.
1994
8112739item
763Markus, B., Narkis, G., Landau, D., Birk, R. Z., Cohen, I., Birk, O. S. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. Hum. Mutat. 33: 1435-1438, 2012.
2012
22610851item
764Martin, E., Schule, R., Smets, K., Rastetter, A., Boukhris, A., Loureiro, J. L., Gonzalez, M. A., Mundwiller, E., Deconinck, T., Wessner, M., Jornea, L., Oteyza, A. C., and 10 others. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am. J. Hum. Genet. 92: 238-244, 2013.
2013
23332916item
765Martinez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, Farina E, Ricci E, Alfonso G, Pauli RM, Hoffman EP. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology. 1999 Jul 13;53(1):50-6.
1999
10408536item
766Martinez-Thompson, J. M., Niu, Z., Tracy, J. A., Moore, S. A., Swenson, A., Wieben, E. D., Milone, M. Autosomal dominant calpainopathy due to heterozygous CAPN3 c.643_663del21. Muscle Nerve. 57: 679-683, 2018.
2018
28881388item
767Martiniuk F, Bodkin M, Tzall S, Hirschhorn R. Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells. Am J Hum Genet 1990; 47: 440-445.
1990
2203258item
768Martinsson, T.; Darin, N.; Kyllerman, M.; Oldfors, A.; Hallberg, B.; Wahlstrom, J. : Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. Am. J. Hum. Genet. 64: 1420-1426, 1999.
1999
10205275
769Martinsson, T.; Oldfors, A.; Darin, N.; Berg, K.; Tajsharghi, H.; Kyllerman, M.; Wahlstrom, J. : Autosomal dominant myopathy: missense mutation (glu-706-to-lys) in the myosin heavy chain IIa gene. Proc. Nat. Acad. Sci. 97: 14614-14619, 2000.
2000
11114175
770Maruyama, H., Morino, H., Ito, H., Izumi, Y., Kato, H., Watanabe, Y., Kinoshita, Y., Kamada, M., Nodera, H., Suzuki, H., Komure, O., Matsuura, S., and 15 others. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465: 223-226, 2010.
2010
20428114item
771Maselli R.A., Arredondo J., Vázquez J., Chong J.X., Bamshad M.J., Nickerson D.A., et al. Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. Am J Med Genet A. 2017 Aug;173(8):2240-2245.
2017
28544784item
772Maselli RA, van der Linden H Jr, Ferns M. Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence. Am J Med Genet A. 2020 Jul;182(7):1744-1749. doi: 10.1002/ajmg.a.61579. Epub 2020 Apr 6. PMID: 32250532
2020
32250532item
773Maselli RA, Vázquez J, Schrumpf L, Arredondo J, Lara M, Strober JB, Pytel P, Wollmann RL, Ferns M. Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. Mol Genet Genomic Med. 2018 May;6(3):434-440. doi: 10.1002/mgg3.370. Epub 2018 Feb 14.
2018
29441694item
774Maselli, R. A., Ng, J. J., Anderson, J. A., Cagney, O., Arredondo, J., Williams, C., Wessel, H. B., Abdel-Hamid, H., Wollmann, R. L. Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J. Med. Genet. 46: 203-208, 2009.
2009
19251977item
775Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG. Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry. 1999 Aug;67(2):174-9.
1999
10406984item
776Mastaglia, F. L.; Phillips, B. A.; Cala, L. A.; Meredith, C.; Egli, S.; Akkari, P. A.; Laing, N. G. : Early onset chromosome 14-linked distal myopathy (Laing). Neuromusc. Disord. 12: 350-357, 2002.
2002
12062252item
777Mathur, A.; Sims, H. F.; Gopalakrishnan, D.; Gibson, B.; Rinaldo, P.; Vockley, J.; Hug, G.; Strauss, A. W. : Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation 99: 1337-1343, 1999.
1999
10077518item
778Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Muller HW, Bird TD, White R, et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet. 1992 Jun;1(3):176-9.
1992
1303231item
779Matsushita Y, Furukawa T, Kasanuki H, Nishibatake M, Kurihara Y, Ikeda A, Kamatani N, Takeshima H, Matsuoka R. Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. J Hum Genet. 2007;52(6):543-8. Epub 2007 May 3.
2007
17476457item
780Matthijs, G.; Schollen, E.; Legius, E.; Devriendt, K.; Goemans, N.; Kayserili, H.; Apak, M. Y.; Cassiman, J.-J. : Unusual molecular findings in autosomal recessive spinal muscular atrophy. J. Med. Genet. 33: 409-474, 1996.
1996
8733053item
781Maystadt I, Rezs²∂hazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet. 2007 Jul;81(1):67-76. Epub 2007 May 16.
2007
17564964item
782Maystadt I, Zarhrate M, Leclair-Richard D, Estournet B, Barois A, Renault F, Routon MC, Durand MC, Lefebvre S, Munnich A, Verellen-Dumoulin C, Viollet L. A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36. Neurology. 2006 Jul 11;67(1):120-4. Epub 2006 May 25.
2006
16728649item
783McCarthy TV, Healy JM, Heffron JJ, Lehane M, Deufel T, Lehmann-Horn F, Farrall M, Johnson K. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature. 1990 Feb 8;343(6258):562-4.
1990
2300206item
784McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown RH Jr, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell. 1992 Feb 21;68(4):769-74.
1992
1310898item
785McEntagart M, Norton N, Williams H, Teare MD, Dunstan M, Baker P, Houlden H, Reilly M, Wood N, Harper PS, Futreal PA, Williams N, Rahman N. Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. Am J Hum Genet. 2001 May;68(5):1270-6. Epub 2001 Apr 04.
2001
11294660item
item
item
item
item
786McEntagart, M. E.; Reid, S. L.; Irrthum, A.; Douglas, J. B.; Eyre, K. E. D.; Donaghy, M. J.; Anderson, N. E.; Rahman, N. : Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. Ann. Neurol. 57: 293-297, 2005. Note: Erratum: Ann. Neurol. 57: 609 only, 2005.
2005
15668982item
787McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER. Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. Acta Neuropathol Commun. 2014 Dec 5;2:148. doi: 10.1186/s40478-014-0148-0. PubMed PMID: 25476234; PubMed Central PMCID: PMC4271450.
2014
25476234item
788McKoy, G.; Protonotarios, N.; Crosby, A.; Tsatsopoulou, A.; Anastasakis, A.; Coonar, A.; Norman, M.; Baboonian, C.; Jeffery, S.; McKenna, W. J. : Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355: 2119-2124, 2000.
2000
10902626item
789McLaughlin, H. M., Sakaguchi, R., Liu, C., Igarashi, T., Pehlivan, D., Chu, K., Iyer, R., Cruz, P., Cherukuri, P. F., Hansen, N. F., Mullikin, J.C., NISC Comparative Sequencing Program, and 13 others. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am. J. Hum. Genet. 87: 560-566, 2010.
2010
20920668item
790McMillin, M. J., Beck, A. E., Chong, J. X., Shively, K. M., Buckingham, K. J., Gildersleeve, H. I. S., Aracena, M. I., Aylsworth, A. S., Bitoun, P., Carey, J. C., Clericuzio, C. L., Crow, Y. J., and 34 others. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am. J. Hum. Genet. 94: 734-744, 2014.
2014
24726473item
791McMillin, M. J., Below, J. E., Shively, K. M., Beck, A. E., Gildersleeve, H. I., Pinner, J., Gogola, G. R., Hecht, J. T., Grange, D. K., Harris, D. J., Earl, D. L., Jagadeesh, S., and 9 others. : Mutations in ECEL1 cause distal arthrogryposis type 5D. Am. J. Hum. Genet. 92: 150-156, 2013.
2013
23261301item
792McNair, W. P., L. Ku, et al. (2004). "SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia." Circulation 110(15): 2163-7.
2004
15466643item
793McNally EM, de Sa Moreira E, Duggan DJ, Bonnemann CG, Lisanti MP, Lidov HG, Vainzof M, Passos-Bueno MR, Hoffman EP, Zatz M, Kunkel LM. Caveolin-3 in muscular dystrophy. Hum Mol Genet. 1998 May;7(5):871-7.
1998
9536092item
794McNally EM, Passos-Bueno MR, Bonnemann CG, Vainzof M, de Sa Moreira E, Lidov HG, Othmane KB, Denton PH, Vance JM, Zatz M, Kunkel LM. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet. 1996 Nov;59(5):1040-7.
1996
8900232item
795Medeiros-Domingo, A., Kaku, T., Tester, D. J., Iturralde-Torres, P., Itty, A., Ye, B., Valdivia, C., Ueda, K., Canizales-Quinteros, S., Tusie-Luna, M. T., Makielski, J. C., Ackerman, M. J. SCN4B-encoded sodium channel beta-4 subunit in congenital long-QT syndrome. Circulation 116: 134-142, 2007.
2007
17592081item
796Meijer, I. A.; Cossette, P.; Roussel, J.; Benard, M.; Toupin, S.; Rouleau, G. A. : A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Ann. Neurol. 56: 579-582, 2004.
2004
15455396item
797Meijer, I. A.; Hand, C. K.; Grewal, K. K.; Stefanelli, M. G.; Ives, E. J.; Rouleau, G. A. : A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. Am. J. Hum. Genet. 70: 763-769, 2002.
2002
11774073item
item
item
798Meilleur KG, Traoré M, Sangaré M, Britton A, Landouré G, Coulibaly S, Niaré B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. Neurogenetics. 2010 Jul;11(3):313-8. Epub 2009 Dec 29.
2010
20039086item
item
item
799Melberg A, Oldfors A, Blomstrom-Lundqvist C, Stalberg E, Carlsson B, Larsson E, Lidell C, Eeg-Olofsson KE, Wikstrom G, Henriksson KG, Dahl N. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol. 1999 Nov;46(5):684-92.
1999
10553984item
800Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. Brain 2013;136:1508–17. [
2013
23543484item
801Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, Marcadet A, Aicardi J, Barois A, Carriere JP, Fardeau M, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature. 1990 Apr 19;344(6268):767-8.
1990
1970420item
802Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Benichou B, Zeviani M, Le Paslier D, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science. 1994 Jun 3;264(5164):1474-7.
1994
7910982item
803Melo, U. S., Macedo-Souza, L. I., Figueiredo, T., Muotri, A. R., Gleeson, J. G., Coux, G., Armas, P., Calcaterra, N. B., Kitajima, J. P., Amorim, S., Olavio, T. R., Griesi-Oliveira, K., Coatti, G. C., Rocha, C. R. R., Martins-Pinheiro, M., Menck, C. F. M., Zaki, M. S., Kok, F., Zatz, M., Santos, S. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Hum. Molec. Genet. 24: 6877-6885, 2015.
2015
26385635item
804Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet. 2020 Oct 1;107(4):763-777. doi: 10.1016/j.ajhg.2020.08.018. Epub 2020 Sep 15.
2020
32937143item
item
805Mendoza-Ferreira, N., Coutelier, M., Janzen, E., Hosseinibarkooie, S., Lohr, H., Schneider, S., Milbradt, J., Karakaya, M., Riessland, M., Pichlo, C., Torres-Benito, L., Singleton, A., Zuchner, S., Brice, A., Durr, A., Hammerschmidt, M., Stevanin, G., Wirth, B. Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. :Neurol. Genet. 4: e209, 2018. Note: Electronic Article. [PubMed: 29379881, related citations]
2018
29379881item
806Mercier, S., Kury, S., Shaboodien, G., Houniet, D. T., Khumalo, N. P., Bou-Hanna, C., Bodak, N., Cormier-Daire, V., David, A., Faivre, L., Figarella-Branger, D., Gherardi, R. K., and 18 others. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am. J. Hum. Genet. 93: 1100-1107, 2013.
2015
24268661item
item
807Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009 May 26;72(21):1802-9. Epub 2009 Mar 18.
2009
19299310item
item
item
item
item
item
808Mercuri, E., A. D'Amico, et al. (2006). "POMT2 mutation in a patient with 'MEB-like' phenotype." Neuromuscul Disord 16(7): 446-8. PMID: 16701995
2006
16701995item
809Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75(4):703-8. Epub 2004 Aug 20.
2004
15322983item
810Merezhinskaya, N., Fishbein, W. N., Davis, J. I., Foellmer, J. W. Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. Muscle Nerve 23: 90-97, 2000.
2000
10590411item
811Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology. 2008 Oct 14;71(16):1245-53.
2008
18852439item
812Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet. 2008 Apr;82(4):809-21. Epub 2008 Feb 28.
2008
18313022item
813Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet. 2000 Jul;67(1):37-46. Epub 2000 Jun 07.
2000
10841809item
814Messina DN, Speer MC, Pericak-Vance MA, McNally EM. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet. 1997 Oct;61(4):909-17.
1997
9382102item
815Michiels, J. J., te Morsche, R. H. M., Jansen, J. B. M. J., Drenth, J. P. H. Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha-subunit Na(v)1.7. Arch. Neurol. 62: 1587-1590, 2005.
2005
16216943item
816Mihalik, S. J.; Morrell, J. C.; Kim. D.; Sacksteder, K. A.; Watkins, P. A.; Gould, S. J. : Identification of PAHX, a Refsum disease gene. Nature Genet. 17: 185-189, 1997.
1997
9326939item
817Milanesi, R.; Baruscotti, M.; Gnecchi-Ruscone, T.; DiFrancesco, D. Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. New Eng. J. Med. 354: 151-157, 2006.
2006
16407510item
item
818Milasin, J.; Muntoni, F.; Severini, G. M.; Bartoloni, L.; Vatta, M.; Krajinovic, M.; Mateddu, A.; Angelini, C.; Camerini, F.; Falaschi, A.; Mestroni, L.; Giacca, M.; Heart Muscle Disease Study Group : A point mutation in the 5-prime splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum. Molec. Genet. 5: 73-79, 1996.
1996
8789442item
819Minamisawa S, Sato Y, Tatsuguchi Y, Fujino T, Imamura S, Uetsuka Y, Nakazawa M, Matsuoka R. Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2003 Apr 25;304(1):1-4.
2003
12705874item
820Minassian, B. A.; Aiyar, R.; Alic, S.; Banwell, B.; Villanova, M.; Fardeau, M.; Mandell, J. W.; Juel, V. C.; Rafii, M.; Auranen, M.; Kalimo, H. Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. Neurology 59: 596-601, 2002.
2002
12196656item
821Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet. 1998 Apr;18(4):365-8.
1998
9537420item
822Mitrani-Rosenbaum S, Argov Z, Blumenfeld A, Seidman CE, Seidman JG. Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Hum Mol Genet. 1996 Jan;5(1):159-163.
1996
8789455item
823Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet. 2011 Jun 10;88(6):845-51.
2011
21665002item
824Miyatake, S., Mitsuhashi, S., Hayashi, Y. K., Purevjav, E., Nishikawa, A., Koshimizu, E., Suzuki, M., Yatabe, K., Tanaka, Y., Ogata, K., Kuru, S., Shiina, M., and 11 others. Biallelic mutations in MYPN, encoding myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy. Am. J. Hum. Genet. 100: 169-178, 2017.
2017
28017374item
825Mochel, F.; Knight, M. A.; Tong, W.-H.; Hernandez, D.; Ayyad, K.; Taivassalo, T.; Andersen, P. M.; Singleton, A.; Rouault, T. A.; Fischbeck, K. H.; Haller, R. G. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am. J. Hum. Genet. 82: 652-660, 2008.
2008
18304497item
826Mogensen J, Klausen IC, Pedersen AK, Egeblad H, Bross P, Kruse TA, Gregersen N, Hansen PS, Baandrup U, Borglum AD. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest. 1999 May 15;103(10):R39-43.
1999
10330430item
item
827Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H, Burke M, Elliott PM, McKenna WJ. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2004 Nov 16;44(10):2033-40.
2004
15542288item
828Mogensen, J.; Kubo, T.; Duque, M.; Uribe, W.; Shaw, A.; Murphy, R.; Gimeno, J. R.; Elliott, P.; McKenna, W. J. : Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J. Clin. Invest. 111: 209-216, 2003.
2003
12531876item
item
829Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, Mayer M, Fardeau M, Tome FM, Guicheney P. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. Am J Hum Genet. 1998 Jun;62(6):1439-45.
1998
9585610item
830Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Roy SQ, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet. 2001 Sep;29(1):17-8.
2001
11528383item
item
831Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Genet Metab. 2003 Sep-Oct;80(1-2):207-15.
2003
14567970item
832Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Nat Med. 2021 Jul;27(7):1197-1204. doi: 10.1038/s41591-021-01346-1. Epub 2021 May 31. PMID: 34059824.
2021
34059824item
833Mohler, P. J.; Schott, J.-J.; Gramolini, A. O.; Dilly, K. W.; Guatimosim, S.; duBell, W. H.; Song, L.-S.; Haurogne, K.; Kyndt, F.; Ali, M. E.; Rogers, T. B.; Lederer, W. J.; Escande, D.; Le Marec, H.; Bennett, V. : Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421: 634-639, 2003.
2003
12571597item
834Mohler, P. J.; Splawski, I.; Napolitano, C.; Bottelli, G.; Sharpe, L.; Timothy, K.; Priori, S. G.; Keating, M. T.; Bennett, V. : A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc. Nat. Acad. Sci. 101: 9137-9142, 2004.
2004
15178757item
835Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, R²∂tig A. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet. 2008 Mar;82(3):623-30.
2008
18319072item
item
836Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature. 1986 Oct 16-22;323(6089):646-50.
1986
3773991item
837Monnier N, Ferreiro A, Marty I, Labarre-Vila A, Mezin P, Lunardi J. A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. Hum Mol Genet 2003; 12: 1171-8.
2003
12719381item
838Monnier N, Lunardi J, Marty I, Mezin P, Labarre-Vila A, Dieterich K, Jouk PS. Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy. Neuromuscul Disord. 2009 Feb;19(2):118-23. Epub 2009 Jan 19.
2009
19155175
839Monnier, N.; Procaccio, V.; Stieglitz, P.; Lunardi, J. : Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am. J. Hum. Genet. 60: 1316-1325, 1997.
1997
9199552item
840Monserrat, L., Hermida-Prieto, M., Fernandez, X., Rodriguez, I., Dumont, C., Cazon, L., Cuesta, M. G., Gonzalez-Juanatey, C., Peteiro, J., Alvarez, N., Penas-Lado, M., Castro-Beiras, A. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Europ. Heart J. 28: 1953-1961, 2007.
2007
17611253item
841Montecchiani, C., Pedace, L., Lo Giudice, T., Casella, A., Mearini, M., Gaudiello, F., Pedroso, J. L., Terracciano, C., Caltagirone, C., Massa, R., St George-Hyslop, P. H., Barsottini, O. G. P., Kawarai, T., Orlacchio, A. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain 139: 73-85, 2016.
2016
26556829item
842Montenegro, G., Rebelo, A. P., Connell, J., Allison, R., Babalini, C., D'Aloia, M., Montieri, P., Schule, R., Ishiura, H., Price, J., Strickland, A., Gonzalez, M. A., and 13 others. Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J. Clin. Invest. 122: 538-544, 2012.
2012
22232211item
843Montes-Chinea NI, Guan Z, Coutts M, Vidal C, Courel S, Rebelo AP, Abreu L, Zuchner S, Littleton JT, Saporta MA. Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype. Neurol Genet. 2018 Oct 22;4(6):e282. doi: 10.1212/NXG.0000000000000282. eCollection 2018 Dec.
2018
30533528item
844Moreira ES, Vainzof M, Marie SK, Sertie AL, Zatz M, Passos-Bueno MR. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet. 1997 Jul;61(1):151-9.
1997
9245996item
845Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet. 2000 Feb;24(2):163-6.
2000
10655062item
846Moreira, M.-C.; Barbot, C.; Tachi, N.; Kozuka, N.; Uchida, E.; Gibson, T.; Mendonca, P.; Costa, M.; Barros, J.; Yanagisawa, T.; Watanabe, M.; Ikeda, Y.; Aoki, M.; Nagata, T.; Coutinho, P.; Sequeiros, J.; Koenig, M. : The gene mutated in ataxia-oculomotor apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nature Genet. 29: 189-193, 2001.
2001
11586300item
847Moreira, M.-C.; Klur, S.; Watanabe, M.; Nemeth, A. H.; Le Ber, I.; Moniz, J.-C.; Tranchant, C.; Aubourg, P.; Tazir, M.; Schols, L.; Pandolfo, P.; Schulz, J. B.; and 22 others : Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nature Genet. 36: 225-227, 2004.
2004
14770181item
848Moreno-De-Luca, A., Helmers, S. L., Mao, H., Burns, T. G., Melton, A. M. A., Schmidt, K. R., Fernhoff, P. M., Ledbetter, D. H., Martin, C. L. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. J. Med. Genet. 48: 141-144, 2011.
2011
20972249item
849Morgan, N. V.; Brueton, L. A.; Cox, P.; Greally, M. T.; Tolmie, J.; Pasha, S.; Aligianis, I. A.; van Bokhoven, H.; Marton, T.; Al-Gazali, L.; Morton, J. E. V.; Oley, C.; Johnson, C. A.; Trembath, R. C.; Brunner, H. G.; Maher, E. R. : Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am. J. Hum. Genet. 79: 390-395, 2006.
2006
16826531item
850Morino, H., Matsuda, Y., Mugurama, K., Miyamoto, R., Ohsawa, R., Ohtake, T., Otobe, R., Watanabe, M., Maruyama, H., Hashimoto, K., Kawakami, H. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia. Molec. Brain 8: 89, 2015. Note: Electronic Article.
2015
26715324item
item
851Morita M, Al-Chalabi A, Andersen PM, Hosler B, Sapp P, Englund E, Mitchell JE, Habgood JJ, de Belleroche J, Xi J, Jongjaroenprasert W, Horvitz HR, Gunnarsson LG, Brown RH Jr. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology. 2006 Mar 28;66(6):839-44. Epub 2006 Jan 18.
2006
16421333item
852Morton S.U., Prabhu S.P., Lidov H.G.W., Shi J., Anselm I., Brownstein C.A., et al. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 Mar;3(2): a001560. doi: 10.1101/mcs.a001560.
2017
28299359item
853Moslehi R, Langlois S, Yam I, Friedman JM. Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree. Am J Med Genet. 1998 Feb 26;76(1):21-7.
1998
9508059item
854Moslemi, A.-R., Lindberg, C., Nilsson, J., Tajsharghi, H., Andersson, B., Oldfors, A. Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. New Eng. J. Med. 362: 1203-1210, 2010.
2010
20357282item
855Moulik M, Vatta M, Witt SH, Arola AM, Murphy RT, McKenna WJ, Boriek AM, Oka K, Labeit S, Bowles NE, Arimura T, Kimura A, Towbin JA. ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene. J Am Coll Cardiol. 2009 Jul 21;54(4):325-33.
2009
19608030item
856Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet. 2000 May 22;9(9):1453-9.
2000
10814726item
857Muglia, M., Magariello, A., Citrigno, L., Passamonti, L., Sprovieri, T., Conforti, F. L., Mazzei, R., Patitucci, A., Gabriele, A. L., Ungaro, C., Bellesi, M., Quattrone, A. A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. Clin. Genet. 73: 486-491, 2008.
2008
18336586item
858Muglia, M.; Criscuolo, C.; Magariello, A.; De Michele, G.; Scarano, V.; D'Adamo, P.; Ambrosio, G.; Gabriele, A. L.; Patitucci, A.; Mazzei, R.; Conforti, F. L.; Sprovieri, T.; Morgante, L.; Epifanio, A.; La Spina, P.; Valentino, P.; Gasparini, P.; Filla, A.; Quattrone, A. : Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. Neurogenetics 5: 49-54, 2004.
2004
14658060item
859Muhammad E, Reish O, Ohno Y, et al. Congenital Myopathy is Caused by Mutation of HACD1. Hum Mol Genet. 2013 Dec 20;22(25):5229-36. doi: 10.1093/hmg/ddt380. Epub 2013 Aug 9.
2013
23933735item
860Muller K., Andersen P.M., Hubers A., et al. Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. (Letter). Brain 2014;137:e309
2014
25113787item
861Munch C, Rosenbohm A, Sperfeld AD et al. Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Ann Neurol 2005;58:777-80
2005
16240349item
item
item
item
862Muntoni, F.; Cau, M.; Ganau, A.; Congiu, R.; Arvedi, G.; Mateddu, A.; Marrosu, M. G.; Cianchetti, C.; Realdi, G.; Cao, A.; Melis, M. A. : Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. New Eng. J. Med. 329: 921-925, 1993.
1993
8361506item
item
863Murakami, T.; Hayashi, Y. K.; Noguchi, S.; Ogawa, M.; Nonaka, I.; Tanabe, Y.; Ogino, M.; Takada, F.; Eriguchi, M.; Kotooka, N.; Campbell, K. P.; Osawa, M.; Nishino, I. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness Ann Neurol, 2006, 60, 597-602
2006
17036286item
item
item
item
864Musumeci, O.; Rodolico, C.; Nishino, I.; Di Guardo, G.; Migliorato, A.; Aguennouz, M.; Mazzeo, A.; Messina, C.; Vita, G.; Toscano, A. : Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in the Lamp-2 gene. Neuromusc. Disord. 15: 409-411, 2005.
2005
15907287item
865Nadal, N.; Rolland, M.-O.; Tranchant, C.; Reutenauer, L.; Gyapay, G.; Warter, J.-M.; Mandel, J.-L.; Koenig, M. : Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family. Hum. Molec. Genet. 4: 1963-1966, 1995.
1995
8595422item
866Nagaoka, U.; Takashima, M.; Ishikawa, K.; Yoshizawa, K.; Yoshizawa, T.; Ishikawa, M.; Yamawaki, T.; Shoji, S.; Mizusawa, H. A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. Neurology 54: 1971-1975, 2000.
2000
10822439item
item
867Nahorski MS, Al-Gazali L, Hertecant J, Owen DJ, Borner GH, Chen YC, Benn CL, Carvalho OP, Shaikh SS, Phelan A, Robinson MS, Royle SJ, Woods CG. A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development. Brain. 2015 Aug;138(Pt 8):2147-60. doi: 10.1093/brain/awv149. Epub 2015 Jun 11.
2015
26068709item
868Nakano, M.; Yamada, K.; Fain, J.; Sener, E. C.; Selleck, C. J.; Awad, A. H.; Zwaan, J.; Mullaney, P. B.; Bosley, T. M.; Engle, E. C. : Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nature Genet. 29: 315-320, 2001.
2001
11600883item
869Nakhro K PJ, Hong YB, Park JH, et al. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology. 2013; un 7.
2013
23749797item
item
870Narcisi TM, Shoulders CC, Chester SA, Read J, Brett DJ, Harrison GB, Grantham TT, Fox MF, Povey S, de Bruin TW and et al. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am J Hum Genet 1995;57:1298-310.
1995
8533758
871Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS. Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Am J Hum Genet. 2007 Sep;81(3):530-9. Epub 2007 Jul 24.
2007
17701898item
872Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS. Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. Am J Hum Genet. 2007 Sep;81(3):589-95. Epub 2007 Jul 24.
2007
17701904item
873Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D. Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6.
2017
28544275item
item
item
874Naviaux, R. K., Nguyen, K. V. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann. Neurol. 55: 706-712, 2004.
2004
15122711item
875Nazli A., Safdar A., Saleem A., Akhtar M., Brady L.I., Schwartzentruber J., et al. A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations. Eur J Hum Genet. 2017 Jun;25(6):744-751. doi: 10.1038/ejhg.2017.20. Epub 2017 Mar 15.
2017
28295037item
876Nelis, E., Erdem, S., Van den Bergh, P. Y. K., Belpaire-Dethiou, M.-C., Ceuterick, C., Van Gerwen, V., Cuesta, A., Pedrola, L., Palau, F., Gabreels-Festen, A. A. W. M., Verellen, C., Tan, E., Demirci, M., Van Broeckhoven, C., De Jonghe, P., Topaloglu, H., Timmerman, V. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 59: 1865-1872, 2002.
2002
12499475item
877Nelis, E.; Berciano, J.; Verpoorten, N.; Coen, K.; Dierick, I.; Van Gerwen, V.; Combarros, O.; De Jonghe, P.; Timmerman, V. : Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. J. Med. Genet. 41: 193-197, 2004.
2004
14985381
878Nelis, E.; De Jonghe, P.; De Vriendt, E.; Patel, P. I.; Martin, J.-J.; Van Broeckhoven, C. : Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP. J. Med. Genet. 35: 590-593, 1998.
1998
9678704item
879Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4197-202. doi: 10.1073/pnas.1312520111. Epub 2014 Mar 3.
2014
24591628item
item
880Neveling, K., Martinez-Carrera, L. A., Holker, I., Heister, A., Verrips, A., Hosseini-Barkooie, S. M., Gilissen, C., Vermeer, S., Pennings, M., Meijer, R., te Riele, M., Frijns, C. J. M., and 12 others. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am. J. Hum. Genet. 92: 946-954, 2013.
2013
23664116item
item
item
881Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Faure S, Gary F, Coumel P, Petit C, Schwartz K, Guicheney P. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet. 1997 Feb;15(2):186-9.
1997
9020846item
882Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet. 1999 Jan;21(1):91-4.
1999
9916797item
883Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 Apr 2;106(4):484-495. doi: 10.1016/j.ajhg.2020.03.001. Epub 2020 Mar 26. PMID: 32220290; PMCID: PMC7118585.
2020
32220290item
884Nguyen, K. V., Ostergaard, E., Ravn, S. H., Balslev, T., Danielsen, E. R., Vardag, A., McKiernan, P. J., Gray, G., Naviaux, R. K. POLG mutations in Alpers syndrome. Neurology 65: 1493-1495, 2005.
2005
16177225item
885Ni J, Liu Z, Li W, Yuan Y, Huang L, Hu Y, Liu P, Hou X, Jiao B, Li J, Shen L, Jiang H, Tang B, Wang J. Rare, pathogenic variants in LRP10 are associated with amyotrophic lateral sclerosis in patients from mainland China. Neurobiol Aging. 2021 Jan;97:145.e17-145.e22. doi: 10.1016/j.neurobiolaging.2020.06.013. Epub 2020 Jun 25. PMID: 32690342.
2021
32690342item
886Nibbeling, E. A. R., Duarri, A., Verschuuren-Bemelmans, C. C., Fokkens, M. R., Karjalainen, J. M., Smeets, C. J. L. M., de Boer-Bergsma, J. J., van der Vries, G., Dooijes, D., Bampi, G. B., van Diemen, C., Brunt, E., and 9 others. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain 140: 2860-2878, 2017.
2017
29053796item
item
887Nicholls, T. J., Nadalutti, C. A., Motori, E., Sommerville, E. W., Gorman, G. S., Basu, S., Hoberg, E., Turnbull, D. M., Chinnery, P. F., Larsson, N.-G., Larsson, E., Falkenberg, M., Taylor, R. W., Griffith, J. D., Gustafsson, C. M. Topoisomerase 3-alpha is required for decatenation and segregation of human mtDNA. Molec. Cell 69: 9-23, 2018.
2018
29290614item
888Nicholson GA, Dawkins JL, Blair IP, Kennerson ML, Gordon MJ, Cherryson AK, Nash J, Bananis T. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet. 1996 May;13(1):101-4.
1996
8673084item
889Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, et al. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet. 1994 Mar;6(3):263-6. Erratum in: Nat Genet 1994 May;7(1):113.
1994
8012388item
890Nicolao P, Xiang F, Gunnarsson LG, Giometto B Edstro¨m L, Anvret M, Zhang Z. Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. Am J Hum Genet 1999;64:788-792.
1999
10053013item
item
891Nicolaou P, Cianchetti C, Minaidou A, Marrosu G, Zamba-Papanicolaou E, Middleton L, Christodoulou K. A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease. Eur J Hum Genet. 2012 Jul 11. doi: 10.1038/ejhg.2012.146.
2012
22781092item
892Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., and 201 others. Genome-wide analyses identify KIF5A as a novel ALS gene. Neuron 97: 1268-1283, 2018. [PubMed: 29566793,
2018
29566793item
893Nicole S, Ben Hamida C, Beighton P, Bakouri S, Belal S, Romero N, Viljoen D, Ponsot G, Sammoud A, Weissenbach J, et al. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. Hum Mol Genet. 1995 Sep;4(9):1633-6.
1995
8541852item
894Nicot A S, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier J M, Biancalana V, Oldfors A, Mandel J L, Laporte J. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 2007; 39: 1134-1139.
2007
17676042
895Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Piluso G, Cappa V, Covone AE, Romeo G, D'Urso M. SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. Hum Mol Genet. 1995 Oct;4(10):2003-4.
2003
8595433item
896Nigro V, de Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet. 1996 Oct;14(2):195-8.
1996
8841194item
897Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T and Peltonen L. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet 2005;14:2981-90.
2005
16135556item
898Nikali, K.; Isosomppi, J.; Lonnqvist, T.; Mao, J.; Suomalainen, A.; Peltonen, L. : Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24. Genomics 39: 185-191, 1997.
1997
9027505 item
899Nilipour Y, Nafissi S, Tjust AE, Ravenscroft G, Hossein Nejad Nedai H, Taylor RL, Varasteh V, Pedrosa Domellöf F, Zangi M, Tonekaboni SH, Olivé M, Kiiski K, Sagath L, Davis MR, Laing NG, Tajsharghi H. Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies. Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26.
2018
29498452item
900Nilsson J, Schoser B, Laforet P, et al. Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol. 2013 Jun 24
2013
23798481item
item
901Nishimura, A. L.; Mitne-Neto, M.; Silva, H. C. A.; Oliveira, J. R. M.; Vainzof, M.; Zatz, M. : A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13. J. Med. Genet. 41: 315-320, 2004.
2004
15060112item
item
902Nishimura, A. L.; Mitne-Neto, M.; Silva, H. C. A.; Richieri-Costa, A.; Middleton, S.; Cascio, D.; Kok, F.; Oliveira, J. R. M.; Gillingwater, T.; Webb, J.; Skehel, P.; Zatz, M. : A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am. J. Hum. Genet. 75: 822-831, 2004.
2004
15372378item
903Nishino, I., Spinazzola, A., Hirano, M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283: 689-692, 1999.
1999
9924029item
904Nishizawa, M.; Kaneko, J.; Tanaka, H.; Tsuji, S.; Tashiro, K. : A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann. Neurol. 48: 156-163, 2000.
2000
10939565item
905Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science. 1995 Nov 3;270(5237):819-22.
1995
7481775item
906Norton, N., Li, D., Rieder, M. J., Siegfried, J. D., Rampersaud, E., Zuchner, S., Mangos, S., Gonzalez-Quintana, J., Wang, L., McGee, S., Reiser, J., Martin, E., Nickerson, D. A., Hershberger, R. E. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am. J. Hum. Genet. 88: 273-282, 2011.
2011
21353195item
907Noury J.B., Maisonobe T., Richard P., Delague V., Malfatti E., Stojkovic T. Rigid spine syndrome associated with sensorymotor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement. Muscle Nerve. 2017 Feb 22. doi: 10.1002/mus.25631.
2017
28224639item
908Nousiainen HO, Kestil²§ M, Pakkasj²§rvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nat Genet. 2008 Feb;40(2):155-7. Epub 2008 Jan 20.
2008
18204449item
909Novarino, G., Fenstermaker, A. G., Zaki, M. S., Hofree, M., Silhavy, J., Heiberg, A. D., Abdellateef, M., Rosti, B., Scott, E., Mansour, L., Masri, A., Kayserili, H., and 41 others. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343: 506-511, 2014
2014
24482476item
item
item
item
item
item
item
910Nowak KJ, Wattanasirichaigoon D, Goebel HH, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 1999;23:208-212.
1999
10508519item
item
item
911Nyegaard, M., Overgaard, M. T., Sondergaard, M. T., Vranas, M., Behr, E. R., Hildebrandt, L. L., Lund, J., Hedley, P. L., Camm, A. J., Wettrell, G., Fosdal, I., Christiansen, M., Borglum, A. D. Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. Am. J. Hum. Genet. 91: 703-712, 2012.
2012
23040497item
912O'Grady GL, Best HA, Oates EC, Kaur S, Charlton A, Brammah S, Punetha J, Kesari A, North KN, Ilkovski B, Hoffman EP, Clarke NF. Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. Eur J Hum Genet. 2014 Sep 3. doi: 10.1038/ejhg.2014.169.
2014
25182138item
913O'Grady, G. L., Verschuuren, C., Yuen, M., Webster, R., Menezes, M., Fock, J. M., Pride, N., Best, H. A., Benavides Damm, T., Turner, C., Lek, M., Engel, A. G., North, K. N., Clarke, N. F., MacArthur, D. G., Kamsteeg, E.-J., Cooper, S. T. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology 87: 1442-1448, 2016.
2016
27590285item
914O’Connor E., Topf A., Müller J.S., et al. Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. Brain 2016; 139:2143–2153.
2016
27259756item
915O’Grady G.L., Best H.A., Sztal T.E., et al. Variants in the oxidoreductase PYROXD1 cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. Am J Hum Genet 2016.
2016
27745833item
916Oates, E. C., Rossor, A. M., Hafezparast, M., Gonzalez, M., Speziani, F., MacArthur, D. G., Lek, M., Cottenie, E., Scoto, M., Foley, A. R., Hurles, M., Houlden, H., and 15 others. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am. J. Hum. Genet. 92: 965-973, 2013.
2013
23664120item
917Ochala J, Li M, Tajsharghi H, Kimber E, Tulinius M, Oldfors A, Larsson L. Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres. J Physiol 2007;581:1283-1292.
2007
17430991item
918Odermatt A, Taschner PE, Khanna VK, Busch HF, Karpati G, Jablecki CK, Breuning MH, MacLennan DH. Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. Nat Genet. 1996 Oct;14(2):191-4.
1996
8841193item
919Ogasawara M, Iida A, Kumutpongpanich T, Ozaki A, Oya Y, Konishi H, Nakamura A, Abe R, Takai H, Hanajima R, Doi H, Tanaka F, Nakamura H, Nonaka I, Wang Z, Hayashi S, Noguchi S, Nishino I. CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations. Acta Neuropathol Commun. 2020 Nov 25;8(1):204. doi: 10.1186/s40478-020-01084-4. PMID: 33239111; PMCID: PMC7690190.
2020
33239111item
920Ogawa, A.; Yamamoto, S.; Kanazawa, M.; Takayanagi, M.; Hasegawa, S.; Kohno, Y. : Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency. J. Hum. Genet. 45: 52-55, 2000.
2000
10697964item
921Ohkawara B., Cabrera-Serrano M., Nakata T. LRP4 third betapropeller domain mutations cause novel congenital
2014
24234652item
922Ohlsson M, Fidzianska A, Tajsharghi H, Oldfors A. TPM3 mutation in one of the original cases of cap disease. Neurology. 2009 Jun 2;72(22):1961-3.
2009
19487656item
923Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM, Engel AG. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):758-62.
1995
7531341item
924Ohno K, Quiram PA, Milone M, et al. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of 6 new mutations. Hum Mol Genet 1997;6:753-767.
1997
9158150item
925Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron. 1996 Jul;17(1):157-70.
1996
8755487item
926Ohno, K.; Engel, A. G.; Shen, X.-M.; Selcen, D.; Brengman, J.; Harper, C. M.; Tsujino, A.; Milone, M. : Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am. J. Hum. Genet. 70: 875-885, 2002.
2002
11791205item
927Ohno, K.; Sadeh, M.; Blatt, I.; Brengman, J. M.; Engel, A. G. : E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Hum. Molec. Genet. 12: 39-748, 2003
2003
12651869item
928Ohno, K.; Tsujino, A.; Brengman, J. M.; Harper, C. M.; Bajzer, Z.; Udd, B.; Beyring, R.; Robb, S.; Kirkham, F. J.; Engel, A. G. : Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc. Nat. Acad. Sci. 98: 2017-2022, 2001.
2001
11172068item
929Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H. Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation. Cardiovasc. Res. 89: 786-793, 2011.
2011
21051419item
930Olivé M, Abdul-Hussein S, Oldfors A, González-Costello J, van der Ven PF, Fürst DO, González L, Moreno D, Torrejón-Escribano B, Alió J, Pou A, Ferrer I, Tajsharghi H. New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations. Hum Mol Genet. 2015 Nov 1;24(21):6264. doi: 10.1093/hmg/ddv311. Epub 2015 Sep 7.
2015
26345447item
item
931Olive M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG. Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions. Nat Commun. 2019 Mar 27;10(1):1396.
2019
30918256item
932Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, Morris AA. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 2007;130:2045-2054
2007
17584774
933Olsen, R. K. J.; Andresen, B. S.; Christensen, E.; Bross, P.; Skovby, F.; Gregersen, N. : Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum. Mutat. 22: 12-23, 2003.
2003
12815589item
934Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM. Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation. 2002 Jan 29;105(4):431-7.
2002
11815424item
935Olson TM, Kishimoto NY, Whitby FG, Michels VV. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol. 2001 Apr;33(4):723-32.
2001
11273725item
936Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 1998 May 1;280(5364):750-2.
1998
9563954item
937Olson, T. M., Alekseev, A. E., Moreau, C., Liu, X. K., Zingman, L. V., Miki, T., Seino, S., Asirvatham, S. J., Jahangir, A., Terzic, A. K(ATP) channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. Nat. Clin. Pract. Cardiovasc. Med. 4: 110-116, 2007.
2007
17245405item
938Olson, T. M.; Alekseev, A. E.; Liu, X. K.; Park, S.; Zingman, L. V.; Bienengraeber, M.; Sattiraju, S.; Ballew, J. D.; Jahangir, A.; Terzic, A. Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum. Molec. Genet. 15: 2185-2191, 2006.
2006
16772329item
939Onengut, S.; Ugur, S. A.; Karasoy, H.; Yuceyar, N.; Tolun, A. : Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32. Neuromusc. Disord. 14: 4-9, 2004.
2004
14659406
940Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996 Nov 1;87(3):543-52.
1996
8898206item
item
item
item
item
item
item
941Orlacchio A, Patrono C, Gaudiello F, Rocchi C, Moschella V, Floris R, Bernardi G, Kawarai T. Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. Neurology. 2008 May 20;70(21):1959-66. Epub 2008 Apr 9.
2008
18401025 item
942Orlacchio A., Babalini C., Borreca A., et al. SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain 2010;133:591–8
2010
20110243item
943Orlacchio, A.; Kawarai, T.; Gaudiello, F.; St George-Hyslop, P. H.; Floris, R.; Bernardi, G.: New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. Ann. Neurol. 58: 423-429, 2005.
2005
16130112item
944Orlacchio, A.; Kawarai, T.; Rogaeva, E.; Song, Y. Q.; Paterson, A. D.; Bernardi, G.; St. George-Hyslop, P. H. : Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology 59: 1395-1401, 2002.
2002
12427890item
945Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993 Jul;4(3):221-6.
1993
8358429item
946Orr, N., Arnaout, R., Gula, L. J., Spears, D. A., Leong-Sit, P., Li, Q., Tarhuni, W., Reischauer, S., Chauhan, V. S., Borkovich, M., Uppal, S., Adler, A., Coughlin, S. R., Stainier, D. Y. R., Gollob, M. H. A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. Nature Commun 7: 11303, 2016.
2016
27066836item
947Orthmann-Murphy, J. L., Salsano, E., Abrams, C. K., Bizzi, A., Uziel, G., Freidin, M. M., Lamantea, E., Zeviani, M., Scherer, S. S., Pareyson, D. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain 132: 426-438, 2009
2009
1905680item
948Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscul Disord. 2011 Apr;21(4):254-62. Epub 2011 Feb 1.
2011
21288719item
item
949Osborn, D. P. S., Pond, H. L., Mazaheri, N., Dejardin, J., Munn, C. J., Mushref, K., Cauley, E. S., Moroni, I., Pasanisi, M. B., Sellars, E. A., Hill, R. S., Partlow, J. N., and 12 others. Mutations in INPP5K cause a form of congenital muscular dystrophy overlapping Marinesco-Sjogren syndrome and dystroglycanopathy. Am. J. Hum. Genet. 100: 537-545, 2017.
2017
28190459item
950Osio A, Tan L, Chen SN, Lombardi R, Nagueh SF, Shete S, Roberts R, Willerson JT, Marian AJ. Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy. Circ Res. 2007 Mar 30;100(6):766-8. Epub 2007 Mar 8.
2007
17347475item
951Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Duno, M., Shoubridge, E. A., Wibrand, F. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am. J. Hum. Genet. 81: 383-387, 2007.
2007
17668387item
952Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet. 1995 Feb;9(2):141-5.
1995
7719340item
953Oz-Levi, D., Ben-Zeev, B., Ruzzo, E. K., Hitomi, Y., Gelman, A., Pelak, K., Anikster, Y., Reznik-Wolf, H., Bar-Joseph, I., Olender, T., Alkelai, A., Weiss, M., Ben-Asher, E., Ge, D., Shianna, K. V., Elazar, Z., Goldstein, D. B., Pras, E., Lancet, D. Mutation in TECPR2reveals a role for autophagy in hereditary spastic paraparesis. Am. J. Hum. Genet. 91: 1065-1072, 2012
2012
23176824item
954Ozelius, L. J.; Hewett, J. W.; Page, C. E.; Bressman, S. B.; Kramer, P. L.; Shalish, C.; de Leon, D.; Brin, M. F.; Raymond, D.; Corey, D. P.; Fahn, S.; Risch, N. J.; Buckler, A. J.; Gusella, J. F.; Breakefield, X. O. : The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genet. 17: 40-48, 1997.
1997
9288096item
955P²©nisson-Besnier I, et al. (1998). Autosomal dominant late adult onset distal leg myopathy. Neuromsuc Disord 8:459-466.
1998
9829275item
956P²©nisson-Besnier I, Talvinen K, Dumez C, Vihola A, Dubas F, Fardeau M, Hackman P, Carpen O and Udd B. Myotilinopathy in a late onset myopathy family. Neuromusc Disord 2006; 16:427-31.
2006
16793270item
957Pacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol SE, Spencer EG, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor RW, Montoya J, Rehling P. Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy. Hum Mol Genet. 2018 Dec 1;27(23):4135-4144. doi: 10.1093/hmg/ddy305.
30452684item
958Pagnamenta, A. T., Kaiyrzhanov, R., Zou, Y., Da'as, S. I., Maroofian, R., Donkervoort, S., Dominik, N., Lauffer, M., Ferla, M. P., Orioli, A., Giess, A., Tucci, A., and 43 others. An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain 144: 584-600, 2021. [PubMed: 33559681
2021
33559681item
959Palenzuela, L.; Andreu, A. L.; Gamez, J.; Vila, M. R.; Kunimatsu, T.; Meseguer, A.; Cervera, C.; Fernandez Cadenas, I.; van der Ven, P. F. M.; Nygaard, T. G.; Bonilla, E.; Hirano, M. : A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology 61: 404-406, 2003.
2003
12913210item
960Palmieri, L., Alberio, S., Pisano, I., Lodi, T., Meznaric-Petrusa, M., Zidar, J., Santoro, A., Scarcia, P., Fontanesi, F., Lamantea, E., Ferrero, I., Zeviani, M. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum. Molec. Genet. 14: 3079-3088, 2005.
2005
16155110item
961Palmio J, Jonson PH, Inoue M, et al. Mutations in the J domain of DNAJB6 cause dominant distal myopathy. Neuromuscul Disord. 2020;30(1):38-46. doi:10.1016/j.nmd.2019.11.005
2019
31955980item
962Palmio J, Sandell S, Suominen T, Penttilä S, Raheem O, Hackman P, Huovinen S, Haapasalo H, Udd B. Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family. Neuromuscul Disord. 2011 Aug;21(8):551-5. doi: 10.1016/j.nmd.2011.05.008.
2011
21684747item
963Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Hum Mol Genet. 1998 May;7(5):807-12.
1998
9536084item
964Pan, T.-C.; Zhang, R.-Z.; Sudano, D. G.; Marie, S. K.; Bonnemann, C. G.; Chu, M.-L.: New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am. J. Hum. Genet. 73: 355-369, 2003.
2003
12840783item
item
965Pandolfo M, Rai M, Remiche G, Desmyter L, Vandernoot I. Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation. Neurol Genet. 2020 Apr 9;6(3):e420. doi: 10.1212/NXG.0000000000000420. PMID: 32337346; PMCID: PMC7164969.
2020
32337346item
966Panza, E., Escamilla-Honrubia, J. M., Marco-Marin, C., Gougeard, N., De Michele, G., Brescia Morra, V., Liguori, R., Salviati, L., Donati, M. A., Cusano, R., Pippucci, T., Ravazzolo, R., Nemeth, A. H., Smithson, S., Davies, S., Hurst, J. A., Bordo, D., Rubio, V., Seri, M. ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. (Letter) Brain 139: e3, 2016. Note: Electronic Article.
2016
26297558item
967Park, H. J., Hong, Y. B., Choi, Y.-C., Lee, J., Kim, E. J., Lee, J.-S., Mo, W. M., Ki, S. M., Kim, H. I., Kim, H. J., Hyun, Y. S., Hong, H. D., and 11 others. ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. Ann. Neurol. 79: 231-243, 2016.
2016
26506222item
968Parkinson, N., Ince, P. G., Smith, M. O., Highley, R., Skibinski, G., Andersen, P. M., Morrison, K. E., Pall, H. S., Hardiman, O., Collinge, J., Shaw, P. J., Disher, E. M. C., MRC Proteomics in ALS Study and the FReJA Consortium. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology 67: 1074-1077, 2006.
2006
16807408item
969Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet. 1996 Jun;5(6):815-20.
1996
8776597item
item
970Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Jun;1(3):159-65.
1992
1303228item
971Patel, H.; Cross, H.; Proukakis, C.; Hershberger, R.; Bork, P.; Ciccarelli, F. D.; Patton, M. A.; McKusick, V. A.; Crosby, A. H. : SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nature Genet. 31: 347-348, 2002.
2002
12134148item
972Patel, N., Smith, L. L., Faqeih, E., Mohamed, J., Gupta, V. A., Alkuraya, F. S. ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). Hum. Molec. Genet. 23: 6584-6593, 2014.
2014
25055871item
973Peddy, S. B., Vricella, L. A., Crosson, J. E., Oswald, G. L., Cohn, R. D., Cameron, D. E., Valle, D., Loeys, B. L. Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. Pediatrics 117: 1830-1833, 2006.
2006
16651346item
974Pedroso J.L., Rocha C.R., Macedo-Souza L.I., et al. Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease. Neurol Genet 2015;1:e30.
2015
27066567item
item
item
975Peeters, K., Litvinenko, I., Asselbergh, B., Almeida-Souza, L., Chamova, T., Geuens, T., Ydens, E., Zimon, M., Irobi, J., De Vriendt, E., De Winter, V., Ooms, T., Timmerman, V., Tournev, I., Jordanova, A. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. Am. J. Hum. Genet. 92: 955-964, 2013.
2013
23664119item
976Pegoraro, E., Gavassini, B. F., Borsato, C., Melacini, P., Vianello, A., Stramere, R., Cenacchi, G., Angelini, C. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromusc. Disord. 17: 321-329, 2007.
2007
17336526item
977Pehlivan D, Coban Akdemir Z, Karaca E, Bayram Y, Jhangiani S, Yildiz EP, Muzny D, Uluc K, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Elcioglu N, Lupski JR, Harel T. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 Jun;134(6):671-3. doi: 10.1007/s00439-015-1548-3. Epub 2015 Apr 17.
2015
25893792item
978Pelin K, Hilpela P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10.
1999
10051637item
979Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF. Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. Neurology. 1996 Apr;46(4):1128-32.
1996
8780104item
980Penttilä S, Jokela M, Hackman P, Maija Saukkonen A, Toivanen J, Udd B. Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2. Eur J Hum Genet. 2012 Nov;20(11):1193-6. doi: 10.1038/ejhg.2012.76. Epub 2012 Apr 25.
2012
22535186item
item
item
981Pericak-Vance, M. A.; Speer, M. C.; Lennon, F.; West, S. G.; Menold, M. M.; Stajich, J. M.; Wolpert, C. M.; Slotterbeck, B. D.; Saito, M.; Tim, R. W.; Rozear, M. P.; Middleton, L. T.; Tsuji, S.; Vance, J. M. : Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics 1: 89-93, 1997.
1997
10732809item
982Petrov, A.; Pirozhkova, I.; Carnac, G.; Laoudj, D.; Lipinski, M.; Vassetzky, Y. S. : Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc. Nat. Acad. Sci. 103: 6982-6987, 2006.
2006
16632607item
983Piccolo F, Jeanpierre M, Leturcq F, Dode C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tome FM, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC. A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet. 1996 Dec;5(12):2019-22.
1996
8968757item
984Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C, Carrie A, Recan D, Chaouch M, Reghis A, et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet. 1995 Jun;10(2):243-5. Erratum in: Nat Genet 1995 Sep 11(1):104.
1995
7663524item
985Pierson, T. M., Adams, D., Bonn, F., Martinelli, P., Cherukuri, P. F., Teer, J. K., Hansen, N. F., Cruz, P., Mullikin, J. C., Blakesley, R. W., Golas, G., Kwan, J., and 9 others. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet. 7: e1002325, 2011. Note: Electronic Article.
2011
22022284item
986Pigg M, Jagell S, Sillen A, Weissenbach J, Gustavson KH, Wadelius C. The Sjogren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. Nat Genet. 1994 Dec;8(4):361-4. Erratum in: Nat Genet 1995 Apr;9(4):451.
1994
7894487item
987Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptacek LJ. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001 May 18;105(4):511-9.
2001
11371347item
988Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet. 1996 May;13(1):63-9.
1996
8673105item
item
989Polke, J. M., Laura, M., Pareyson, D., Taroni, F., Milani, M., Bergamin, G., Gibbons, V. S., Houlden, H., Chamley, S. C., Blake, J., DeVile, C., Sandford, R., Sweeney, M. G., Davis, M. B., Reilly, M. M. Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. Neurology 77: 168-173, 2011.
2011
21715711item
item
item
item
990Posch, M.G., Posch, M. J., Geier, C., Erdmann, B., Mueller, W., Richter, A., Ruppert, V., Pankuweit, S., Maisch, B., Perrot, A., Buttgereit, J., Dietz, R., Haverkamp, W., Ozcelik, C. A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. Mol. Genet. Metab. 95: 74-80, 2008.
2008
18678517item
991Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, Duno M, Andersen H, Laub M, Vissing J. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metab. 2013 Nov;110(3):287-9. doi: 10.1016/j.ymgme.2013.08.005. Epub 2013 Aug 15.
2015
24011652item
item
item
item
item
item
item
item
992Priest JM, Fischbeck KH, Nouri N, Keats BJ. A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. Genomics. 1995 Sep 20;29(2):409-12.
1995
8666389item
item
item
993Priori, S. G.; Napolitano, C.; Tiso, N.; Memmi, M.; Vignati, G.; Bloise, R.; Sorrentino, V.; Danieli, G. A.: Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 103: 196-200, 2001.
2001
11208676item
994Priori, S. G.; Pandit, S. V.; Rivolta, I.; Berenfeld, O.; Ronchetti, E.; Dhamoon, A.; Napolitano, C.; Anumonwo, J.; Raffaele di Barletta, M.; Gudapakkam, S.; Bosi, G.; Stramba-Badiale, M.; Jalife, J. : A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ. Res. 96: 800-807, 2005.
2005
15761194item
995Probst, S., Oechslin, E., Schuler, P., Greutmann, M., Boye, P., Knirsch, W., Berger, F., Thierfelder, L., Jenni, R., Klaassen, S. Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Circ. Cardiovasc. Genet. 4: 367-374, 2011.
2011
21551322item
item
996Ptacek LJ, George AL Jr, Barchi RL, Griggs RC, Riggs JE, Robertson M, Leppert MF. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron. 1992 May;8(5):891-7.
1992
1316765item
997Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell. 1991 Nov 29;67(5):1021-7.
1991
1659948item
998Ptacek LJ, Gouw L, Kwiecinski H, McManis P, Mendell JR, Barohn RJ, George AL Jr, Barchi RL, Robertson M, Leppert MF. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol. 1993 Mar;33(3):300-7.
1993
8388676item
999Ptacek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 1994 Aug;44(8):1500-3.
1994
8058156item
item
1000Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology. 1992 Feb;42(2):431-3.
1992
1310531item
1001Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. Am J Hum Genet. 1991 Oct;49(4):851-4.
1991
1654742item
item
1002Puckelwartz MJ, Kessler EJ, Kim G, Dewitt MM, Zhang Y, Earley JU, Depreux FF, Holaska J, Mewborn SK, Pytel P, McNally EM. Nesprin-1 mutations in human and murine cardiomyopathy. J Mol Cell Cardiol. 2010 Apr;48(4):600-8. Epub 2009 Nov 24.
2010
19944109item
1003Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH Jr, Ludlow CL, Fischbeck KH. Mutant dynactin in motor neuron disease. Nat Genet. 2003 Apr;33(4):455-6. Epub 2003 Mar 10.
2003
12627231item
1004Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 1996 Nov;14(3):269-76.
1996
8896555item
1005Punetha J, Kesari A, Hoffman EP, Gos M, Kami?ska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, J?drzejowska M. Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. Muscle Nerve. 2016 Jun 27. doi: 10.1002/mus.25232.
2016
27348394item
1006Purevjav, E., Arimura, T., Augustin, S., Huby, A.-C., Takagi, K., Nunoda, S., Kearney, D. L., Taylor, M. D., Terasaki, F., Bos, J. M., Ommen, S. R., Shibata, H., and 14 others. Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum. Molec. Genet. 21: 2039-2053, 2012.
2012
22286171item
item
1007Quane KA, Healy JM, Keating KE, Manning BM, Couch FJ, Palmucci LM, Doriguzzi C, Fagerlund TH, Berg K, Ording H, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet. 1993 Sep;5(1):51-5
1993
8220423item
item
1008Quane KA, Keating KE, Manning BM, Healy JM, Monsieurs K, Heffron JJ, Lehane M, Heytens L, Krivosic-Horber R, Adnet P, et al. Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Hum Mol Genet. 1994 Mar;3(3):471-6.
1994
8012359item
1009Quélin C., Loget P., Rozel C., D’Hervé D., Fradin M., Demurger F., et al. Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation. Eur J Med Genet. 2017 Jul;60(7):395-398.
2017
28455154item
1010Quijano-Roy S, Mbieleu B, Bonnemann CG et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann. Neurol 2008;64:177–86.
2008
18551513item
1011Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Cama²±o P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet. 2008 Jan;82(1):208-13.
2008
18179901item
1012Quinzii, C., Naini, A., Salviati, L., Trevisson, E., Navas, P., DiMauro, S., Hirano, M. A mutation in Para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am. J. Hum. Genet. 78: 345-349, 2006.
2006
16400613item
1013Quiram, P. A.; Ohno, K.; Milone, M.; Patterson, M. C.; Pruitt, N. J.; Brengman, J. M.; Sine, S. M.; Engel, A. G. : Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. J. Clin. Invest. 104: 1403-1410, 1999.
1999
10562302item
1014Raducu M, Baets J, Fano O, Van Coster R, Cruces J. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. Eur J Hum Genet. 2012 Sep;20(9):945-52. doi: 10.1038/ejhg.2012.40. Epub 2012 Mar 14.
2012
22419172item
1015Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L , Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D. Am J Hum Genet. 2000 Apr;66(4):1407-12. Epub 2000 Mar 16.
2000
10739764item
1016Raffaele di Barletta, M.; Ricci, E.; Galluzzi, G.; Tonali, P.; Mora, M.; Morandi, L.; Romorini, A.; Voit, T.; Orstavik, K. H.; Merlini, L.; Trevisan, C.; Biancalana, V.; Housmanowa-Petrusewicz, I.; Bione, S.; Ricotti, R.; Schwartz, K.; Bonne, G.; Toniolo, D. : Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am. J. Hum. Genet. 66: 1407-1412, 2000.
2000
10739764item
1017Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, Delaney C, Richardson RJ, Albers JW, Matsunami N, Stevens J, Coon H, Leppert M, Fink JK. Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet. 2008 Mar;82(3):780-5. Epub 2008 Feb 28.
2008
18313024item
1018Rainier, S.; Chai, J.-H.; Tokarz, D.; Nicholls, R. D.; Fink, J. K. : NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am. J. Hum. Genet. 73: 967-971, 2003.
2003
14508710item
1019Rajadhyaksha, A. M., Elemento, O., Puffenberger, E. G., Schierberl, K. C., Xiang, J. Z., Putorti, M. L., Berciano, J., Poulin, C., Brais, B., Michaelides, M., Weleber, R. G., Higgins, J. J. Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. Am. J. Hum. Genet. 87: 643-654, 2010.
2010
21070897item
1020Ramachandran N1, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol. 2013 Mar;125(3):439-57. doi: 10.1007/s00401-012-1073-6. Epub 2013 Jan 12.
2013
23315026item
1021Rampazzo A, Nava A, Danieli GA, Buja G, Daliento L, Fasoli G, Scognamiglio R, Corrado D, Thiene G. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet 1994;3:959-962.
1994
7951245item
item
1022Rampazzo A, Nava A, Miorin M, Fonderico P, Pope B, Tiso N, Livolsi B, Zimbello R, Thiene G, Danieli GA. ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. Genomics 1997;45:259-263.
1997
9344647item
1023Rampazzo, A.; Nava, A.; Malacrida, S.; Beffagna, G.; Bauce, B.; Rossi, V.; Zimbello, R.; Simionati, B.; Basso, C.; Thiene, G.; Towbin, J. A.; Danieli, G. A. : Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am. J. Hum. Genet. 71: 1200-1206, 2002.
2002
12373648item
1024Ramser, J., Ahearn, M. E., Lenski, C., Yariz, K. O., Hellebrand, H., von Rhein, M., Clark, R. D., Schmutzler, R. K., Lichtner, P., Hoffman, E. P., Meindl, A., Baumbach-Reardon, L. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am. J. Hum. Genet. 82: 188-193, 2008
2008
18179898item
1025Ranum LP, Rasmussen PF, Benzow KA, Koob MD, Day JW. Genetic mapping of a second myotonic dystrophy locus. Nat Genet. 1998 Jun;19(2):196-8.
1998
9620781item
1026Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet. 1994 Nov;8(3):280-4.
1994
7874171item
1027Rattay TW SL, Wilhelm C, Synofzik M. Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion. Amyotroph Lateral Scler Frontotemporal Degener. 2013;Jul 25.
2013
23886397item
item
1028Ravenscroft G, Zaharieva I, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullée H, Whyte T; UK10K Consortium, Manzur A, Talim B, Kaya U, Osborn DP, Forrest A, Laing NG, Muntoni F. Bi-allelic mutations in MYL1 cause a severe congenital myopathy. Hum Mol Genet. 2018 Sep 12. doi: 10.1093/hmg/ddy320.
2018
30215711item
1029Ravenscroft, G., Di Donato, N., Hahn, G., Davis, M. R., Craven, P. D., Poke, G., Neas, K. R., Neuhann, T. M., Dobyns, W. B., Laing, N. G. Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. Neuromusc. Disord. 26: 744-748, 2016.
2016
27751653item
1030Ravenscroft, G., Miyatake, S., Lehtokari, V.-L., Todd, E. J., Vornanen, P., Yau, K. S., Hayashi, Y. K., Miyake, N., Tsurusaki, Y., Doi, H., Saitsu, H., Osaka, H., and 43 others. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am. J. Hum. Genet. 93: 6-18, 2013.
2013
23746549item
item
1031Ravenscroft, G., Nolent, F., Rajagopalan, S., Meireles, A. M., Paavola, K. J., Gaillard, D., Alanio, E., Buckland, M., Arbuckle, S., Krivanek, M., Maluenda, J., Pannell, S., and 9 others. Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita. Am. J. Hum. Genet. 96: 955-961, 2015.
2015
26004201item
1032Rebelo AP, Saade D, Pereira CV, Farooq A, Huff TC, Abreu L, Moraes CT, Mnatsakanova D, Mathews K, Yang H, Schon EA, Zuchner S, Shy ME. SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. Brain. 2018 Mar 1;141(3):662-672. doi: 10.1093/brain/awx369.
2018
29351582item
1033Rebelo, A. P., Abrams, A. J., Cottenie, E., Horga, A., Gonzalez, M., Bis, D. M., Sanchez-Mejias, A., Pinto, M., Buglo, E., Markel, K., Prince, J., Laura, M., and 10 others. Cryptic amyloidogenic elements in the 3-prime UTRs of neurofilament genes trigger axonal neuropathy. Am. J. Hum. Genet. 98: 597-614, 2016.
2016
27040688item
1034Rebelo, A. P., Cortese, A., Abraham, A., Eshed-Eisenbach, Y., Shner, G., Vainshtein, A., Buglo, E., Camarena, V., Gaidosh, G., Shiekhattar, R., Abreu, L., Courel, S., and 9 others. A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Brain 144: 1197-1213, 2021. Note: Erratum: Brain 144: e64, 2021. [PubMed: 33889941,
2021
33889941item
1035Reed, G. J., Boczek, N. J., Etheridge, S. P., Ackerman, M. J. CALM3 mutation associated with long QT syndrome. Heart Rhythm 12: 419-422, 2015.
2015
25460178item
1036Régal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG. PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. Neurology. 2014 Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7.
2014
24610330item
1037Reid E, Dearlove AM, Osborn O, Rogers MT, Rubinsztein DC. A locus for autosomal dominant pure hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet. 2000 Feb;66(2):728-32.
2000
10677333item
1038Reid E, Dearlove AM, Rhodes M, Rubinsztein DC. A new locus for autosomal dominant pure hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. Am J Hum Genet. 1999 Sep;65(3):757-63.
1999
10441583item
1039Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King MC, Levy-Lahad E. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet. 2009 Aug;85(2):281-9. Epub 2009 Jul 30.
2009
19646678item
1040Renwick JH, Bundey SE, Ferguson-Smith MA, Izatt MM. Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion. J Med Genet. 1971 Dec;8(4):407-16.
1971
5149523item
1041Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D, Zeviani M. RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. Am J Hum Genet. 2015 Jul 2;97(1):186-93. doi: 10.1016/j.ajhg.2015.05.013. Epub 2015 Jun 18.
2015
26094573item
1042Richard I, Brenguier L, Dincer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS. Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. Am J Hum Genet. 1997 May;60(5):1128-38.
1997
9150160item
1043Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell. 1995 Apr 7;81(1):27-40.
1995
7720071item
item
item
item
1044Riley, L. G., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S. C., Thorburn, D., Ryan, M. T., Giege, R., Bahlo, M., Christodoulou, J. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia-MLASA syndrome. Am. J. Hum. Genet. 87: 52-59, 2010.
2010
20598274item
1045Rinaldi C, Grunseich C, Sevrioukova IF, et al. Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am. J. Hum. Genet. 2012;91:1095–1102.
2012
23217327item
1046Rinaldi, C., Schmidt, T., Situ, A. J., Johnson, J. O., Lee, P. R., Chen, K., Bott, L. C., Fado, R., Harmison, G. H., Parodi, S., Grunseich, C., Renvoise, B., and 12 others. Mutation in CPT1C associated with pure autosomal dominant spastic paraplegia. JAMA Neurol. 72: 561-570, 2015. Note: Erratum: JAMA Neurol. 72: 608 only, 2015.
2015
25751282item
1047Riviere, J.-B., Ramalingam, S., Lavastre, V., Shekarabi, M., Holbert, S., Lafontaine, J., Srour, M., Merner, N., Rochefort, D., Hince, P., Gaudet, R., Mes-Masson, A.-M., and 11 others. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am. J. Hum. Genet. 89: 219-230, 2011.
2011
21820098item
1048Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet. 1993 Nov;5(3):269-73.
1993
8275092item
1049Roa BB, Dyck PJ, Marks HG, Chance PF. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet. 1993 Nov;5(3):269-73.
1993
8275092item
1050Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tome FM, Romero NB, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell. 1994 Aug 26;78(4):625-33.
1994
8069911item
1051Robinson, R. L., Monnier, N., Wolz, W., Jung, M., Reis, A., Nuernberg, G., Curran, J. L., Monsieurs, K., Stieglitz, P., Heytens, L., Fricker, R., van Broeckhoven, C., Deufel, T., Hopkins, P. M., Lunardi, J., Mueller, C. R. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum. Molec. Genet. 6: 953-961, 1997.
1997
9175745item
1052Robinson, R. L.; Brooks, C.; Brown, S. L.; Ellis, F. R.; Halsall, P. J.; Quinnell, R. J.; Shaw, M.-A.; Hopkins, P. M. : RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. Hum. Mutat. 20: 88-97, 2002.
2002
12124989item
1053Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet. 1995 Apr;4(4):631-4.
1995
7633412item
1054Rodriguez G, Ueyama T, Ogata T, Czernuszewicz G, Tan Y, Dorn GW 2nd, Bogaev R, Amano K, Oh H, Matsubara H, Willerson JT, Marian AJ. Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy. Circ Cardiovasc Genet. 2011 Aug 1;4(4):349-58.
2011
21642240item
1055Rogers T, Chandler D, Angelicheva D, Thomas PK, Youl B, Tournev I, Gergelcheva V, Kalaydjieva L. A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Am J Hum Genet. 2000 Sep;67(3):664-71. Epub 2000 Jul 27.
2000
10915613item
item
1056Rojas CV, Wang JZ, Schwartz LS, Hoffman EP, Powell BR, Brown RH Jr. A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature. 1991 Dec 5;354(6352):387-9.
1991
1659668item
1057Romeo G, Roncuzzi L, Sangiorgi S, Giacanelli M, Liguori M, Tessarolo D, Rocchi M. Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees. Hum Genet. 1988 Sep;80(1):59-62.
1988
3417305item
1058Romero NB, Monnier N, Viollet L, Cortey A, Chevallay M, Leroy JP, Lunardi J, Fardeau M. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain. 2003 Nov;126(Pt 11):2341-9. Epub 2003 Aug 22.
2003
12937085item
1059Romero NB, Xie T, Malfatti E, Schaeffer U, Böhm J, Wu B, Xu F, Boucebci S, Mathis S, Neau JP, Monnier N, Fardeau M, Laporte J.  Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.  J Neurol Neurosurg Psychiatry. 2014; 85(10):1149-52. doi: 10.1136/jnnp-2013-306754. 
2014
24828896item
1060Ronchi, D., Di Fonzo, A., Lin, W., Bordoni, A., Liu, C., Fassone, E., Pagliarani, S., Rizzuti, M., Zheng, L., Filosto, M., Ferro, M. T., Ranieri, M., and 10 others. Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. Am. J. Hum. Genet. 92: 293-300, 2013.
2013
23352259item
1061Ronchi, D., Garone, C., Bordoni, A., Gutierrez Rios, P., Calvo, S. E., Ripolone, M., Ranieri, M., Rizzuti, M., Villa, L., Magri, F., Corti, S., Bresolin, N., Mootha, V. K., Moggio, M., DiMauro, S., Comi, G. P., Sciacco, M. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain 135: 3404-3415, 2012.
2012
23043144item
1062Rook, M. B.; Alshinawi, C. B.; Groenewegen, W. A.; van Gelder, I. C.; van Ginneken, A. C. G.; Jongsma, H. J.; Mannens, M. M. A. M.; Wilde, A. A. M. : Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc. Res. 44: 507-517, 1999.
1999
10690282item
1063Rosa R, George C, Fardeau M, Calvin MC, Rapin M, Rosa J. A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. Blood. 1982 Jul;60(1):84-91.
1982
7082849item
1064Roscioli, T., Kamsteeg, E.-J., Buysse, K., Maystadt, I., van Reeuwijk, J., van den Elzen, C., van Beusekom, E., Riemersma, M., Pfundt, R., Vissers, L. E. L. M., Schraders, M., Altunoglu, U., and 23 others. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Nature Genet. 44: 581-585, 2012.
2012
22522421item
1065Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993 Mar 4;362(6415):59-62. Erratum in: Nature. 1993 Jul 22;364(6435):362.
1993
8446170item
1066Rossi D, Vezzani B, Galli L, Paolini C, Toniolo L, Pierantozzi E, Spinozzi S, Barone V, Pegoraro E, Bello L, Cenacchi G, Vattemi G, Tomelleri G, Ricci G, Siciliano G, Protasi F, Reggiani C, Sorrentino V. A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates. Hum Mutat. 2014 Oct;35(10):1163-70. doi: 10.1002/humu.22631. Epub 2014 Sep 10.
2014
25116801item
1067Rotthier, A., Auer-Grumbach, M., Janssens, K., Baets, J., Penno, A., Almeida-Souza, L., Van Hoof, K., Jacobs, A., De Vriendt, E., Schlotter-Weigel, B., Loscher, W., Vondracek, P., Seeman, P., De Jonghe, P., Van Dijck, P., Jordanova, A., Hornemann, T., Timmerman, V. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Am. J. Hum. Genet. 87: 513-522, 2010.
2010
20920666item
1068Roux-Buisson, N., Cacheux, M., Fourest-Lieuvin, A., Fauconnier, J., Brocard, J., Denjoy, I., Durand, P., Guicheney, P., Kyndt, F., Leenhardt, A., Le Marec, H., Lucet, V., and 10 others. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Hum. Molec. Genet. 21: 2759-2767, 2012.
2012
22422768item
1069Rudnik-SchoÅNneborn S, Senderek J, Jen JC, et al. Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations. Neurology 2013; 80: 438–436
2013
23284067item
item
item
item
item
1070Ruggieri A, Naumenko S, Smith MA, Iannibelli E, Blasevich F, Bragato C, Gibertini S, Barton K, Vorgerd M, Marcus K, Wang P, Maggi L, Mantegazza R, Dowling JJ, Kley RA, Mora M, Minassian BA. Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease. Acta Neuropathol. 2020 Aug;140(2):231-235. doi: 10.1007/s00401-020-02164-4. Epub 2020 May 25. PMID: 32451610; PMCID: PMC7360652.
2020
32451610item
1071Ruggieri, A., Brancati, F., Zanotti, S., Maggi, L., Pasanisi, M. B., Saredi, S., Terracciano, C., Antozzi, C., D'Alpice, M. R., Sangiuolo, F., Novelli, G., Marshall, C. R., Scherer, S. W., Morandi, L., Federici, L., Massa, R., Mora, M., Minassian, B. A. Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy. Acta Neuropath. Commun. 3: 44, 2015. Note: Electronic Article.
2015
26205529item
item
1072Ryan DP, da Silva MR, Soong TW, Fontaine B, Donaldson MR, Kung AW, Jongjaroenprasert W, Liang MC, Khoo DH, Cheah JS, Ho SC, Bernstein HS, Maciel RM, Brown RH Jr, Pt²°cek LJ. Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell. 2010 Jan 8;140(1):88-98.
2010
20074522item
1073Ryan MM, Taylor P, Donald JA, Ouvrier RA, Morgan G, Danta G, Buckley MF, North KN. A novel syndrome of episodic muscle weakness maps to xp22.3. Am J Hum Genet. 1999 Oct;65(4):1104-13.
1999
10486330item
1074Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29:342-344.
2001
11687801item
1075Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM. Modifier of Disease Severity in Families Affected by FSHD1. Am J Hum Genet 2013;93:744–51.
2013
24075187item
1076Sacconi, S., Camano, P., de Greef, J. C., Lemmers, R. J. L. F., Salviati, L., Boileau, P., Lopez de Munain Arregui, A., van der Maarel, S. M., Desnuelle, C. Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. J. Med. Genet. 49: 41-46, 2012.
2012
21984748item
1077Safka Brozkova, D., Deconinck, T., Griffin, L. B., Ferbert, A., Haberlova, J., Mazanec, R., Lassuthova, P., Roth, C., Pilunthanakul, T., Rautenstrauss, B., Janecke, A. R., Zavadakova, P., and 9 others. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain 138: 2161-2172, 2015.
2015
26072516item
1078Sainio MT, Välipakka S, Rinaldi B, Lapatto H, Paetau A, Ojanen S, Brilhante V, Jokela M, Huovinen S, Auranen M, Palmio J, Friant S, Ylikallio E, Udd B, Tyynismaa H. Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy. J Neurol. 2018 Dec 4. doi: 10.1007/s00415-018-9137-8.
2018
30515627item
1079Salpietro V., Lin W., Delle Vedove A., Storbeck M., Liu Y., Efthymiou S., et al. Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. Ann Neurol. 2017 Apr;81(4):597-603. doi: 10.1002/ana.24905. Epub 2017 Mar 29.
2017
28253535item
1080Salvi A, Skrypnyk C, Da Silva N, Urtizberea JA, Bakhiet M, Robert C, Lévy N, Megarbané A, Delague V, Bartoli M. A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases. Clin Genet. 2021 Jul;100(1):84-89. doi: 10.1111/cge.13959. Epub 2021 Mar 29. PMID: 33733462
2021
33733462item
1081Sambuughin, N., Yau, K. S., Olive, M., Duff, R. M., Bayarsaikhan, M., Lu, S., Gonzalez-Mera, L., Sivadorai, P., Nowak, K. J., Ravenscroft, G., Mastaglia, F. L., North, K. N., and 9 others. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am. J. Hum. Genet. 87: 842-847, 2010.
2010
21109227item
1082Samilchuk, E.; D'Souza, B.; Bastaki, L. : Deletion analysis of the SMN and NAIP genes in Kuwaiti patients with spinal muscular atrophy. Hum. Genet. 98: 524-527, 1996.
1996
8882869item
1083Sampedro Castaneda M, Zanoteli E, Scalco RS, Scaramuzzi V, Marques Caldas V, Conti Reed U, da Silva AMS, O'Callaghan B, Phadke R, Bugiardini E, Sud R, McCall S, Hanna MG, Poulsen H, Mannikko R, Matthews E. A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms. Brain. 2018 Nov 12. doi: 10.1093/brain/awy283. PMID:30423015
2018
30423015item
1084Sanchez-Caballero, L., Ruzzenente, B., Bianchi, L., Assouline, Z., Barcia, G., Metodiev, M. D., Rio, M., Funalot, B., van den Brand, M. A. M., Guerrero-Castillo, S., Molenaar, J. P., Koolen, D., Brandt, U., Rodenburg, R. J., Nijtmans, L. G., Rotig, A. Mutations in complex I assembly factor TMEM126B result in muscle weakness and isolated complex I deficiency. Am. J. Hum. Genet. 99: 208-216, 2016. PubMed: 27374773,
2016
27374773item
1085Sandaradura SA, Bournazos A, Mallawaarachchi A, Cummings BB, Waddell LB, Jones KJ, Troedson C, Sudarsanam A, Nash BM, Peters GB, Algar EM, MacArthur DG, North KN, Brammah S, Charlton A, Laing NG, Wilson MJ, Davis MR, Cooper ST. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Hum Mutat. 2018 Mar;39(3):383-388. doi: 10.1002/humu.23385. Epub 2018 Jan 13. PMID: 29266598; PMCID: PMC5805634.
2018
29266598item
1086Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kühn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D, Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimiani EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking. Brain. 2021 Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459. PMID: 33764426; PMCID: PMC8041041.
2021
33764426item
1087Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet. 1996 Nov;14(3):277-84.
1996
8896556item
1088Sapp, P. C.; Hosler, B. A.; McKenna-Yasek, D.; Chin, W.; Gann, A.; Genise, H.; Gorenstein, J.; Huang, M.; Sailer, W.; Scheffler, M.; Valesky, M.; Haines, J. L.; Pericak-Vance, M.; Siddique, T.; Horvitz, H. R.; Brown, R. H., Jr. : Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am. J. Hum. Genet. 73: 397-403, 2003.
2003
12858291item
item
1089Saraiva, M. J. M. : Transthyretin mutations in health and disease. Hum. Mutat. 5: 191-196, 1995.
1995
7599630item
1090Sarparanta, J., Jonson, P. H., Golzio, C., Sandell, S., Luque, H., Screen, M., McDonald, K., Stajich, J. M., Mahjneh, I., Vihola, A., Raheem, O., Penttila, S., and 9 others. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nature Genet. 44: 450-455, 2012.
2012
22366786item
1091Sasse-Klaassen, S., Gerull, B., Oechslin, E., Jenni, R., Thierfelder, L. Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. Am. J. Med. Genet. 119A: 162-167, 2003.
2003
12749056item
1092Sato, I., Wu, S., Ibarra, M. C. A., Hayashi, Y. K., Fujita, H., Tojo, M., Oh, S. J., Nonaka, I., Noguchi, S., Nishino, I. Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. Neurology 70: 114-122, 2008.
2008
17538032item
1093Sato, N., Amino, T., Kobayashi, K., Asakawa, S., Ishiguro, T., Tsunemi, T., Takahashi, M., Matsuura, T., Flanigan, K. M., Iwasaki, S., Ishino, F., Saito, Y., and 9 others Spinocerebellar ataxia type 31 is associated with 'inserted' penta-nucleotide repeats containing (TGGAA)n. Am. J. Hum. Genet. 85: 544-557, 2009.
2009
19878914item
1094Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun. 1999 Aug
1999
10462489item
1095Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet. 1994 Mar;6(3):257-62.
1994
8012387item
1096Saunders CJ1, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW. Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 ? recapitulate the mitochondriopathy of the homologous null mouse. Hum Mutat. 2015 Mar;36(3):301-6. doi: 10.1002/humu.22743.
2015
25512002item
1097Savarese, M., Palmio, J., Poza, J. J., Weinberg, J., Olive, M., Cobo, A. M., Vihola, A., Jonson, P. H., Sarparanta, J., Garcia-Bragado, F., Urtizberea, J. A., Hackman, P., Udd, B. Actininopathy: a new muscular dystrophy caused by ACTN2 dominant mutations. Ann. Neurol. 85: 899-906, 2019.
2019
30900782item
1098Saviranta P, Lindlof M, Lehesjoki AE, Kalimo H, Lang H, Sonninen V, Savontaus ML, de la Chapelle A. Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. Am J Hum Genet. 1988 Jan;42(1):84-8.
1988
2892402item
1099Savitsky, K.; Bar-Shira, A.; Gilad, S.; Rotman, G.; Ziv, Y.; Vanagaite, L.; Tagle, D. A.; Smith, S.; Uziel, T.; Sfez, S.; Ashkenazi, M.; Pecker, I.; and 18 others : A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268: 1749-1753, 1995.
1995
7792600item
1100Schelhaas, H. J.; Verbeek, D. S.; Van de Warrenburg, B. P. C.; Sinke, R. J. : SCA19 and SCA22: evidence for one locus with a worldwide distribution. (Letter) Brain 127: e6, 2004. Note: Electronic Article.
2004
14679032item
1101Schessl, J., Zou, Y., McGrath, M. J., Cowling, B. S., Maiti, B., Chin, S. S., Sewry, C., Battini, R., Hu, Y., Cottle, D. L., Rosenblatt, M., Spruce, L., and 9 others. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J. Clin. Invest. 118: 904-912, 2008.
2008
18274675item
1102Schindler, R. F. R., Scotton, C., Zhang, J., Passarelli, C., Ortiz-Bonnin, B., Simrick, S., Schwerte, T., Poon, K.-L., Fang, M., Rinne, S., Froese, A., Nikolaev, V. O., and 22 others. POPDC1-S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking. J. Clin. Invest. 126: 239-253, 2016.
2016
26642364item
1103Schmid, R.; Mahler, R. : Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J. Clin. Invest. 38: 2044-2058, 1959.
1959
14442994item
1104Schmidt, W. M., Rutledge, S. L., Schule, R., Mayerhofer, B., Zuchner, S., Boltshauser, E., Bittner, R. E. Disruptive SCYL1 mutations underlie a syndrome characterized by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia. Am. J. Hum. Genet. 97: 855-861, 2015.
2015
26581903item
1105Schmitt, J. P.; Kamisago, M.; Asahi, M.; Li, G. H.; Ahmad, F.; Mende, U.; Kranias, E. G.; MacLennan, D. H.; Seidman, J. G.; Seidman, C. E. : Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 299: 1410-1413, 2003.
2003
12610310item
1106Schonberger, J.; Kuhler, L.; Martins, E.; Lindner, T. H.; Silva-Cardoso, J.; Zimmer, M. : A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1. Hum. Genet. 118: 451-457, 2005.A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1. Hum. Genet. 118: 451-457, 2005.
2005
16228230item
1107Schonberger, J.; Wang, L.; Shin, J. T.; Kim, S. D.; Depreux, F. F. S.; Zhu, H.; Zon, L.; Pizard, A.; Kim, J. B.; MacRae, C. A.; Mungall, A. J.; Seidman, J. G.; Seidman, C. E. : Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nature Genet. 37: 418-422, 2005.
2005
15735644item
1108Schoser BG, Frosk P, Engel AG, Klutzny U, Lochm²ºller H, Wrogemann K. 2005. Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Ann Neurol 57:591-595.
2005
15786463 item
1109Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB, Donnelly P, Vergnaud G, Bachner L, Moisan JP, et al. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet. 1995 Nov;57(5):1114-22.
1995
7485162item
1110Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J. Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. Neurology. 2015 Feb 3;84(5):523-31. doi: 10.1212/WNL.0000000000001220. Epub 2015 Jan 7.
2015
25568292item
1111Schuelke, M.; Wagner, K. R.; Stolz, L. E.; Huber, C.; Riebel, T.; Komen, W.; Braun, T.; Tobin, J. F.; Lee, S.-J. : Myostatin mutation associated with gross muscle hypertrophy in a child. New Eng. J. Med. 350: 2682-2688, 2004.
2004
15215484item
1112Schuld J, Orfanos Z, Chevessier F, Eggers B, Heil L, Uszkoreit J, Unger A, Kirfel G, van der Ven PFM, Marcus K, Linke WA, Clemen CS, Schröder R, Fürst DO. Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation. Acta Neuropathol Commun. 2020 Sep 4;8(1):154. doi: 10.1186/s40478-020-01001-9. PMID: 32887649
2020
32887649item
1113Schule, R., Bonin, M., Durr, A., Forlani, S., Sperfeld, A. D., Klimpe, S., Mueller, J. C., Seibel, A., van de Warrenburg, B. P., Bauer, P., Schols, L. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24. Neurology 72: 1893-1898, 2009.
2009
19357379item
1114Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y, Rubie C, Hordt M, Towbin JA, Borggrefe M, Assmann G, Qu X, Somberg JC, Breithardt G, Oberti C, Funke H. KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet. 1997 Nov;17(3):267-8.
1997
9354783item
item
1115Schuurs-Hoeijmakers, J. H. M., Geraghty, M. T., Kamsteeg, E.-J., Ben-Salem, S., de Bot, S. T., Nijhof, B., van de Vondervoort, I. I. G. M., van der Graaf, M., Nobau, A. C., Otte-Holler, I., Vermeer, S., Smith, A. C., and 29 others. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am. J. Hum. Genet. 91: 1073-1081, 2012
2012
23176823item
1116Schuurs-Hoeijmakers, J. H. M., Vulto-van Silfhout, A. T., Vissers, L. E. L. M., van de Vondervoort, I. I. G. M., van Bon, B. W. M., de Ligt, J., Gilissen, C., Hehir-Kwa, J. Y., Neveling, K., del Rosario, M., Hira, G., Reitano, S., and 19 others. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J. Med. Genet. 50: 802-811, 2013.
2013
24123876item
1117Scrable HJ, Johnson DK, Rinchik EM, Cavenee WK. Rhabdomyosarcoma-associated locus and MYOD1 are syntenic but separate loci on the short arm of human chromosome 11. Proc Natl Acad Sci U S A. 1990 Mar;87(6):2182-6.
1990
2315312item
1118Sedghi M, Moslemi AR, Cabrera-Serrano M, Ansari B, Ghasemi M, Baktashian M, Fattahpour A, Tajsharghi H. Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP. Brain Commun. 2019 Sep 3;1(1):fcz011. doi: 10.1093/braincomms/fcz011. PMID: 32954258; PMCID: PMC7425404.
2019
32954258item
1119Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004 Apr 27;62(8):1363-71.
2004
15111675item
1120Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005 Feb;57(2):269-76.
2005
15668942item
1121Selcen D, Milone M, Shen XM, Harper CM, Stans AA, Wieben ED, Engel AG. Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann Neurol. 2008 Jul;64(1):71-87.
2008
18626973item
1122Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, Engel AG. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol. 2008 Dec 9.
2008
19085932item
1123Selcen, D., Juel, V. C., Hobson-Webb, L. D., Smith, E. C., Stickler, D. E., Bite, A. V., Ohno, K., Engel, A. G. Myasthenic syndrome caused by plectinopathy. Neurology 76: 327-336, 2011.
2011
21263134item
item
item
item
item
item
1124Selcen, D.; Engel, A. G. Myofibrillar myopathy caused by novel dominant negative alpha-B-crystallin mutations. Ann. Neurol. 54: 804-810, 2003.
2003
14681890item
1125Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Sch²∂neborn S, B²ºttner R, Buchheim E, Zerres K. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet. 2004 Feb 1;13(3):363.
2004
12554688item
1126Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet. 2005 Dec;37(12):1312-4. Epub 2005 Nov 13.
2005
16282977item
1127Senderek, J., Muller, J. S., Dusl, M., Strom, T. M., Guergueltcheva, V., Diepolder, I., Laval, S. H., Maxwell, S., Cossins, J., Krause, S., Muelas, N., Vilchez, J. J., and 27 others. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am. J. Hum. Genet. 88: 162-172, 2011.
2011
21310273item
1128Seong, E., Insolera, R., Dulovic, M., Kamsteeg, E.-J., Trinh, J., Bruggermann, N., Sandford, E., Li, S., Ozel, A. B., Li, J. Z., Jewett, T., Kievit, A. J. A., Munchau, A., Shakkottai, V., Klein, C., Collins, C. A., Lohmann, K., van de Warrenburg, B. P., Burmeister, M. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. Ann. Neurol. 83: 1075-1088, 2018.
2018
29604224item
1129Seri, M.; Cusano, R.; Forabosco, P.; Cinti, R.; Caroli, F.; Picco, P.; Bini, R.; Morra, V. B.; De Michele, G.; Lerone, M.; Silengo, M.; Pela, I.; Borrone, C.; Romeo, G.; Devoto, M. : Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am. J. Hum. Genet. 64: 586-593, 1999.
1999
9973297item
item
1130Serrano-Munuera, C., Corral-Juan, M., Stevanin, G et al . 2013. New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. JAMA Neurol. 70: 764-771, 2013.
2013
23700170item
1131Servian-Morilla, E., Takeuchi, H., Lee, T. V., Clarimon, J., Mavillard, F., Area-Gomez, E., Rivas, E., Nieto-Gonzalez, J. L., Rivero, M. C., Cabrera-Serrano, M., Gomez-Sanchez, L., Martinez-Lopez, J. A., and 12 others. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Molec. Med. 8: 1289-1309, 2016.
2016
27807076item
1132Servidei S, et al. (1999). A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13. Neurology 53:830-837.
1999
10489050item
1133Severini GM, Krajinovic M, Pinamonti B, Sinagra G, Fioretti P, Brunazzi MC, Falaschi A, Camerini F, Giacca M, Mestroni L. A new locus for anhythmogenic right ventricular dysplasia on the long arm of chromosome14. Genomics 1996;31:193-200.
1996
8824801item
1134Sevilla, T., Lupo, V., Martinez-Rubio, D., Sancho, P., Sivera, R., Chumillas, M. J., Garcia-Romero, M., Pascual-Pascual, S. I., Muelas, N., Dopazo, J., Vilchez, J. J., Palau, F., Espinos, C. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain 139: 62-72, 2016.
2016
26497905item
1135Sevilla, T., Martinez-Rubio, D., Marquez, C., Paradas, C., Colomer, J., Jaijo, T., Millan, J. M., Palau, F., Espinos, C. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. Clin. Genet. 83: 565-570, 2013.
2013
22978647item
1136Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness. Brain. 2021 May 8:awab185. doi: 10.1093/brain/awab185. Online ahead of print. PMID: 33964137
2021
33964137item
1137Shaibani A, Khan S, Shinawi M. Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia. Neurol Genet. 2021 Jul 16;7(4):e612. doi: 10.1212/NXG.0000000000000612. PMID: 34291158; PMCID: PMC8290902.
2021
34291158item
1138Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I. Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). Neuromuscul Disord. 2008 Dec;18(12):959-61. Epub 2008 Oct 25.
2008
18952429item
1139Shamseldin H.E., Smith L.L., Kentab A., et al. Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. Hum Genet 2015; 135:21–30.
2015
26541337item
1140Shamseldin HE, Bennett AH, Alfadhel M, Gupta V, Alkuraya FS. GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder. Hum Genet. 2016 Feb;135(2):245-51. doi: 10.1007/s00439-015-1632-8.
2016
26742501item
1141Sharp D, Blinderman L, Combs KA, Kienzle B, Ricci B, Wager-Smith K, Gil CM, Turck CW, Bouma ME, Rader DJ and et al. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature 1993;365:65-9.
1993
8361539
1142Shekarabi M, Girard N, Riviere JB, Dion P, Houle M, Toulouse A, Lafreniere RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M and Rouleau GA. Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. J Clin Invest 2008;118:2496-505.
2008
18521183item
1143Shen J, Bao Y, Chen YT. A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. Hum Mutat. 1997;9(1):37-40.
1997
8990006item
1144Shen X.M., Scola R.H., Lorenzoni P.J., Kay C.S., Werneck L.C., Brengman J., et al. Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome. Ann Clin Transl Neurol. 2017 Jan 16;4(2):130-138. doi: 10.1002/acn3.387. eCollection 2017.
2017
28168212item
1145Shen XM, Di L, Shen S, Zhao Y, Neumeyer AM, Selcen D, Sine SM, Engel AG. A novel fast-channel myasthenia caused by mutation in ? subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating. Exp Neurol. 2020 Sep;331:113375. doi: 10.1016/j.expneurol.2020.113375. Epub 2020 Jun 3. PMID: 32504635; PMCID: PMC7483818.
2020
32504635item
1146Shen, X.-M., Selcen, D., Brengman, J., Engel, A. G. Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. Neurology 83: 2247-2255, 2014.
2014
25381298item
1147Shen, X.-M.; Ohno, K.; Fukudome, T.; Tsujino, A.; Brengman, J. M.; De Vivo, D. C.; Packer, R. J.; Engel, A. G. : Congenital myasthenic syndrome caused by low-expressor fast-channel AChR-delta subunit mutation. Neurology 59: 1881-1888, 2002.
2002
12499478item
1148Shi, C.-H., Schisler, J. C., Rubel, C. E., Tan, S., Song, B., McDonough, H., Xu, L., Portbury, A. L., Mao, C.-Y., True, C., Wang, R.-H., Wang, Q.-Z., Sun, S.-L., Seminara, S. B., Patterson, C., Xu, Y.-M. Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum. Molec. Genet. 23: 1013-1024, 2014.
2014
24113144item
1149Shimazaki, H., Takiyama, Y., Ishiura, H., Sakai, C., Matsushima, Y., Hatakeyama, H., Honda, J., Sakoe, K., Naoi, T., Namekawa, M., Fukuda, Y., Takahashi, Y., Goto, J., Tsuji, S., Goto, Y., Nakano, I., Japan Spastic Paraplegia Research Consortium (JASPAC). A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). J. Med. Genet. 49: 777-784, 2012
2012
23188110item
1150Shimizu A, Zankov DP, Sato A, et al. Identification of transmembrane protein 168 mutation in familial Brugada syndrome. FASEB J. 2020;34(5):6399-6417. doi:10.1096/fj.201902991R
2020
32175648item
1151Shinwari, J. M. A., Khan, A., Awad, S., Shinwari, Z., Alaiya, A., Alanazi, M., Tahir, A., Poizat, C., Al Tassan, N. Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. Am. J. Hum. Genet. 96: 147-152, 2015.
2015
25500261item
1152Shore EM, Xu M, Feldman GJ, Fenstermacher DA; FOP International Research Consortium; Brown MA, Kaplan FS. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. 2006 May;38(5):525-7. Epub 2006 Apr
2006
16642017item
1153Shrimpton AE, Levinsohn EM, Yozawitz JM, Packard DS Jr, Cady RB, Middleton FA, Persico AM, Hootnick DR. A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. Am J Hum Genet. 2004 Jul;75(1):92-6. Epub 2004 May 14.
2004
15146389item
1154Siddique T, Figlewicz DA, Pericak-Vance MA, Haines JL, Rouleau G, Jeffers AJ, Sapp P, Hung WY, Bebout J, McKenna-Yasek D, et al. Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology. 1996 Jun;46(6):1507-14. Review.
1996
2020294item
item
1155Siddique, T.; Deng, H.-X. : Genetics of amyotrophic lateral sclerosis. Hum. Molec. Genet. 5: 1465-1470, 1996.
1996
8875253item
1156Simpson, M. A.; Cross, H.; Proukakis, C.; Pryde, A.; Hershberger, R.; Chatonnet, A.; Patton, M. A.; Crosby, A. H. : Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am. J. Hum. Genet. 73: 1147-1156, 2003.
2003
14564668item
1157Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG. Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron. 1995 Jul;15(1):229-39.
1995
7619526item
1158Siu, B. L.; Niimura, H.; Osborne, J. A.; Fatkin, D.; MacRae, C.; Solomon, S.; Benson, D. W.; Seidman, J. G.; Seidman, C. E. : Familial dilated cardiomyopathy locus maps to chromosome 2q31. Circulation 99: 1022-1026, 1999.
1999
10051295item
1159Sloth CK, Denti F, Schmitt N, Bentzen BH, Fagerberg C, Vissing J, Gaist D. Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression. Neurol Genet. 2018 Sep 19;4(5):e267. doi: 10.1212/NXG.0000000000000267. eCollection 2018 Oct. PubMed PMID: 30283817; PubMed Central PMCID: PMC6167177.
2018
30283817item
1160Smeitink, J. A. M., Elpeleg, O., Antonicka, H., Diepstra, H., Saada, A., Smits, P., Sasarman, F., Vriend, G., Jacob-Hirsch, J., Shaag, A., Rechavi, G., Welling, B., Horst, J., Rodenburg, R. J., van den Heuvel, B., Shoubridge, E. A. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am. J. Hum. Genet. 79: 869-877, 2006.
2006
17033963item
1161Smith B.N., Ticozzi N., Fallini C., Gkazi A.S., Topp S., Kenna K.P., et al. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron 84: 324-331, 2014.
2014
25374358item
1162Smith FJ, Eady RA, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Bryant SP, Spurr NK, Geddes JF, Kirtschig G, Milana G, de Bono AG, Owaribe K, Wiche G, Pulkkinen L, Uitto J, McLean WH, Lane EB. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet. 1996 Aug;13(4):450-7.
1996
8696340item
1163Smith, B. N., Topp, S. D., Fallini, C., Shibata, H., Chen, H.-J., Troakes, C., King, A., Ticozzi, N., Kenna, K. P., Soragia-Gkazi, A., Miller, J. W., Sato, A., and 44 others. Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Sci. Transl. Med. 9: eaad9157, 2017. Note: Electronic Article.
2017
28469040item
1164Solomon SD, Geisterfer-Lowrance AA, Vosberg HP, Hiller G, Jarcho JA, Morton CC, McBride WO, Mitchell AL, Bale AE, McKenna WJ, et al. A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12. Am J Hum Genet. 1990 Sep;47(3):389-94.
1990
1975475item
1165Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet. 2019 Aug;51(8):1215-1221.
2019
31332381item
1166Song GJ, Gupta DP, Rahman MH, et al. Loss-of-function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system. Glia. 2020;68(9):1794-1809. doi:10.1002/glia.23805
2020
32077526item
1167Soong, B.-W., Huang, Y.-H., Tsai, P.-C., Huang, C.-C., Pan, H.-C., Lu, Y.-C., Chien, H.-J., Liu, T.-T., Chang, M.-H., Lin, K.-P., Tu, P.-H., Kao, L.-S., Lee, Y.-C. : Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 92: 422-430, 2013.
2013
23434117item
item
item
item
item
item
item
item
item
item
item
item
item
item
item
item
item
1168Souza PVS, Bortholin T, Naylor FGM, Pinto WBVR, Oliveira ASB. Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation. Neuromuscul Disord. 2018 Feb;28(2):169-172. doi: 10.1016/j.nmd.2017.11.008. Epub 2017 Nov 24.
2018
29277257item
1169Sparrow John C, Kristen J Nowak, Hayley J Durling, Alan H Beggs, Carina Wallgren-Pettersson, Norma Romero, Ikuya Nonaka, Nigel G Laing.  Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1) Neuromuscul Disord 2003; 13(7-8):519-31. doi: 10.1016/s0960-8966(03)00101-9 
2003
12921789item
1170Speer MC, Tandan R, Rao PN, Fries T, Stajich JM, Bolhuis PA, Jobsis GJ, Vance JM, Viles KD, Sheffield K, James C, Kahler SG, Pettenati M, Gilbert JR, Denton PH, Yamaoka LH, Pericak-Vance MA. Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. Hum Mol Genet. 1996 Jul;5(7):1043-6.
1996
8817344item
item
1171Speer MC, Yamaoka LH, Gilchrist JH, Gaskell CP, Stajich JM, Vance JM, Kazantsev A, Lastra AA, Haynes CS, Beckmann JS, et al. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet. 1992 Jun;50(6):1211-7.
1992
1598902item
1172Speer, M. C.; Vance, J. M.; Grubber, J. M.; Graham, F. L.; Stajich, J. M.; Viles, K. D.; Rogala, A.; McMichael, R.; Chutkow, J.; Goldsmith, C.; Tim, R. W.; Pericak-Vance, M. A. : Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am. J. Hum. Genet. 64: 556-562, 1999.
1999
9973293item
1173Spelbrink, J. N.; Li, F.-Y.; Tiranti, V.; Nikali, K.; Yuan, Q.-P.; Tariq, M.; Wanrooij, S.; Garrido, N.; Comi, G.; Morandi, L.; Santoro, L.; Toscano, A.; and 9 others : Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nature Genet. 28: 223-231, 2001.
2001
11431692item
1174Spiegel, R., Saada, A., Flannery, P. J., Burte, F., Soiferman, D., Khayat, M., Eisner, V., Vladovski, E., Taylor, R. W., Bindoff, L. A., Shaag, A., Mandel, H., Schuler-Furman, O., Shalev, S. A., Elpeleg, O., Yu-Wai-Man, P. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. J. Med. Genet. 53: 127-131, 2016.
2016
26561570item
item
item
item
item
1175Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT. Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet. 1997 Nov;17(3):338-40.
1997
9354802item
1176Splawski, I.; Timothy, K. W.; Decher, N.; Kumar, P.; Sachse, F. B.; Beggs, A. H.; Sanguinetti, M. C.; Keating, M. T. : Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc. Nat. Acad. Sci. 102: 8089-8096, 2005.
2005
15863612item
1177Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G and Shaw CE. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008;319:1668-72.
2008
18309045item
1178Stabicki M, Theis M, Krastev DB, Samsonov S, Mundwiller E, Junqueira M, Paszkowski-Rogacz M, Teyra J, Heninger AK, Poser I, Prieur F, Truchetto J, Confavreux C, Marelli C, Durr A, Camdessanche JP, Brice A, Shevchenko A, Pisabarro MT, Stevanin G, Buchholz F. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol. 2010 Jun 29;8(6):e1000408.
2010
20613862item
1179Starling, A.; Kok, F.; Passos-Bueno, M. R.; Vainzof, M.; Zatz, M. : A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Europ. J. Hum. Genet. 12: 1033-1040, 2004. Note: Erratum: Europ. J. Hum. Genet. 13: 264 only, 2005.
2005
15367920item
item
item
1180Steckley, J. L.; Ebers, G. C.; Cader, M. Z.; McLachlan, R. S. : An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology 57: 1499-1502, 2001.
2001
11673600item
1181Steinmuller, R.; Lantigua-Cruz, A.; Garcia-Garcia, R.; Kostrzewa, M.; Steinberger, D.; Muller, U. : Evidence of a third locus in X-linked recessive spastic paraplegia. Hum. Genet. 100: 287-289, 1997.
1997
9254866item
1182Stemmerik MG, Borch JS, Dunø M, Krag T, Vissing J. Myopathy can be a key phenotype of membrin (GOSR2) deficiency. Hum Mutat. 2021 Sep;42(9):1101-1106. doi: 10.1002/humu.24247. Epub 2021 Jul 6. PMID: 34167170
2021
34167170item
1183Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Kr²ºttgen A, Rudnik-Sch²∂neborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet. 2007 Jul;81(1):158-64.
2007
17564972item
1184Stephan DA, Buist NR, Chittenden AB, Ricker K, Zhou J, Hoffman EP. A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. Neurology. 1994 Oct;44(10):1915-20.
1994
7936247item
item
1185Stevanin G, Le Guern E, Ravise N, Chneiweiss H, Durr A, Cancel G, Vignal A, Boch AL, Ruberg M, Penet C, et al. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet. 1994 Jan;54(1):11-20.
1994
8279460item
1186Stevanin G, Paternotte C, Coutinho P, Klebe S, Elleuch N, Loureiro JL, Denis E, Cruz VT, Durr A, Prud'homme JF, Weissenbach J, Brice A and Hazan J. A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. Neurology 2007;68:1837-40.
2007
17515546item
1187Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A and Brice A. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 2007;39:366-72.
2007
17322883item
1188Stevanin, G.; Bouslam, N.; Thobois, S.; Azzedine, H.; Ravaux, L.; Boland, A.; Schalling, M.; Broussolle, E.; Durr, A.; Brice, A. : Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann. Neurol. 55: 97-104, 2004.
2004
14705117item
1189Stevanin, G.; Hahn, V.; Lohmann, E.; Bouslam, N.; Gouttard, M.; Soumphonphakdy, C.; Welter, M.-L.; Ollagnon-Roman, E.; Lemainque, A.; Ruberg, M.; Brice, A.; Durr, A. : Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch. Neurol. 61: 1242-1248, 2004.
2004
15313841item
1190Stevanin, G.; Montagna, G.; Azzedine, H.; Valente, E. M.; Durr, A.; Scarano, V.; Bouslam, N.; Cassandrini, D.; Denora, P. S.; Criscuolo, C.; Belarbi, S.; Orlacchio, A.; and 27 others : Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics 7: 149-156, 2006.
2006
16699786item
1191Stevens, E., Carss, K. J., Cirak, S., Foley, A. R., Torelli, S., Willer, T., Tambunan, D. E., Yau, S., Brodd, L., Sewry, C. A., Feng, L., Haliloglu, G., and 14 others. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan. Am. J. Hum. Genet. 92: 354-365, 2013.
2013
23453667item
1192Stevenson, D. A., Swoboda, K. J., Sanders, R. K., Bamshad, M. A new distal arthrogryposis syndrome characterized by plantar flexion contractures. Am. J. Med. Genet. 140A: 2797-2801, 2006.
2006
17103435item
1193Stewart, G. S.; Maser, R. S.; Stankovic, T.; Bressan, D. A.; Kaplan, M. I.; Jaspers, N. G. J.; Raams, A.; Byrd, P. J.; Petrini, J. H. J.; Taylor, A. M. R. : The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99: 577-587, 1999.
1999
10612394item
1194Stojkovic, T., Vissing, J., Petit, F., Piraud, M., Orngreen, M. C., Andersen, G., Claeys, K. G., Wary, C., Hogrel, J.-Y., Laforet, P. Muscle glycogenosis due to phosphoglucomutase 1 deficiency. New Eng. J. Med. 361: 425-427, 2009.
2009
19625727item
1195Stoll M, Hooiling Teoh, James Lee, Stephen Reddel, Ying Zhu, Michael Buckley, Hugo Sampaio, Tony Roscioli, Michelle Farrar, Garth Nicholson. Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia. Neurology Jul 2016, 87 (1) 65-70; DOI: 10.1212/WNL.0000000000002813
2016
27281532item
1196Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B. Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. Eur J Hum Genet. 2017 Sep;25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21. PMID:28635954. PMCID:PMC5558181
2017
28635954item
1197Storey, E., Bahlo, M., Fahey, M., Sisson, O., Lueck, C. J., Gardner, R. J. A new dominantly inherited pure cerebellar ataxia, SCA 30. J. Neurol. Neurosurg. Psychiatry 80: 408-411, 2009.
2009
18996908item
1198Strauss, A. W.; Powell, C. K.; Hale, D. E.; Anderson, M. M.; Ahuja, A.; Brackett, J. C.; Sims, H. F. : Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc. Nat. Acad. Sci. 92: 10496-10500, 1995.
1995
7479827item
1199Strauss, W. L.; Kemper, R. R.; Jayakar, P.; Kong, C. F.; Hersh, L. B.; Hilt, D. C.; Rabin, M. : Human choline acetyltransferase gene maps to region 10q11-q22.2 by in situ hybridization. Genomics 9: 396-398, 1991.
1991
1840566item
1200Straussberg, R., Schottmann, G., Sadeh, M., Gill, E., Seifert, F., Halevy, A., Qassem, K., Rendu, J., van der Ven, P. F. M., Stenzel, W., Schuelke, M. Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. Acta Neuropath. 132: 475-478, 2016.
2016
27484770item
1201Street, V. A.; Bennett, C. L.; Goldy, J. D.; Shirk, A. J.; Kleopa, K. A.; Tempel, B. L.; Lipe, H. P.; Scherer, S. S.; Bird, T. D.; Chance, P. F. : Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 60: 22-26, 2003.
2003
12525712item
1202Street, V. A.; Goldy, J. D.; Golden, A. S.; Tempel, B. L.; Bird, T. D.; Chance, P. F. : Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. Am. J. Hum. Genet. 70: 244-250, 2002.
2002
11713717item
1203Sudbrak R, Golla A, Hogan K, Powers P, Gregg R, Du Chesne I, Lehmann-Horn F, Deufel T. Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. Hum Mol Genet. 1993 Jul;2(7):857-62.
1993
8395939item
1204Sullivan JM, Motley WW, Johnson JO, et al. Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. J Clin Invest. 2020;130(3):1506-1512. doi:10.1172/JCI128152
2020
32065591item
1205Sumner, C. J., d'Ydewalle, C., Wooley, J., Fawcett, K. A., Hernandez, D., Gardiner, A. R., Kalmar, B., Baloh, R. H., Gonzalez, M., Zuchner, S., Stanescu, H. C., Kleta, R., and 9 others. A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am. J. Hum. Genet. 93: 976-983, 2013.
2013
24207122item
item
1206Sun SC, Ma D, Li MY, Zhang RX, Huang C, Huang HJ, Xie YZ, Wang ZJ, Liu J, Cai DC, Liu CX, Yang Q, Bao FX, Gong XL, Li JR, Hui Z, Wei XF, Zhong JM, Zhou WJ, Shang X, Zhang C, Liu XG, Tang BS, Xiong F, Xu XM. Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease. Brain. 2019 Jun 14. pii: awz151. doi: 10.1093/brain/awz151.
2019
31199454item
1207Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3):681-90.
2003
12592607item
item
1208Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet. 2003 Jul;73(1):212-4.
2003
12865991item
1209Suomalainen, A.; Majander, A.; Wallin, M.; Setala, K.; Kontula, K.; Leinonen, H.; Salmi, T.; Paetau, A.; Haltia, M.; Valanne, L.; Lonnqvist, J.; Peltonen, L.; Somer, H. : Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology 48: 1244-1253, 1997.
1997
9153451item
1210Swan, H.; Piippo, K.; Viitasalo, M.; Heikkila, P.; Paavonen, T.; Kainulainen, K.; Kere, J.; Keto, P.; Kontula, K.; Toivonen, L. : Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J. Am. Coll. Cardiol. 34: 2035-2042, 1999.
1999
10588221item
1211Sylvius, N.; Tesson, F.; Gayet, C.; Charron, P.; Benaiche, A.; Mangin, L.; Peuchmaurd, M.; Duboscq-Bidot, L.; Feingold, J.; Beckmann, J. S.; Bouchier, C.; Komajda, M. : A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16. Am. J. Hum. Genet. 68: 241-246, 2001.
2001
11085912item
1212Syrris, P.; Ward, D.; Evans, A.; Asimaki, A.; Gandjbakhch, E.; Sen-Chowdhry, S.; McKenna, W. J. : Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am. J. Hum. Genet. 79: 978-984, 2006.
2006
17033975item
1213Tajsharghi H, Oldfors A, Macleod D P, Swash M. Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. Neurology 2007a; 68: 962.
2007
17372140item
item
1214Tajsharghi H, Hilton-Jones D, Raheem O, Saukkonen AM, Oldfors A, Udd B. Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations. Brain. 2010 May;133(Pt 5):1451-9.
2010
20418530item
1215Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A. Distal arthrogryposis and muscle weakness associated with a ²ü-tropomyosin mutation. Neurology 2007c;68:772-775.
2007
17339586item
1216Tajsharghi H, Leren TP, Abdul-Hussein S, Tulinius M, Brunvand L, Dahl HM, Oldfors A. Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C. J Med Genet. 2010 Aug;47(8):575-7. Epub 2009 Oct 26.
2009
19858127item
1217Takahashi Y., Fukuda Y., Yoshimura J., Toyoda A., Kurppa K., Moritoyo T., et al. ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am. J. Hum. Genet. 93: 900-905, 2013.
2013
24119685item
1218Takashima H, Nakagawa M, Nakahara K, Suehara M, Matsuzaki T, Higuchi I, Higa H, Arimura K, Iwamasa T, Izumo S, Osame M. A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Ann Neurol. 1997 Jun;41(6):771-80.
1997
9189038item
1219Takashima, H.; Boerkoel, C. F.; John, J.; Saifi, G. M.; Salih, M. A. M.; Armstrong, D.; Mao, Y.; Quiocho, F. A.; Roa, B. B.; Nakagawa, M.; Stockton, D. W.; Lupski, J. R. : Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nature Genet. 32: 267-272, 2002.
2002
12244316item
1220Takashima, H.; Nakagawa, M.; Suehara, M.; Saito, M.; Saito, A.; Kanzato, N.; Matsuzaki, T.; Hirata, K.; Terwilliger, J. D.; Osame, M. : Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. Neuromusc. Disord. 9: 368-371, 1999.
1999
10545038item
1221Takata RI, Speck Martins CE, Passosbueno MR, Abe KT, Nishimura AL, Da Silva MD, Monteiro A Jr, Lima MI, Kok F, Zatz M. A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21. J Med Genet. 2004 Mar;41(3):224-9. No abstract available.
2004
14985388item
1222Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet. 1993 Jul;4(3):300-4.
1993
8358439item
1223Tamiya, G., Makino, S., Hayashi, M., Abe, A., Numakura, C., Ueki, M., Tanaka, A., Ito, C., Toshimori, K., Ogawa, N., Terashima, T., Maegawa, H., Yanagisawa, D., Tooyama, I., Tada, M., Onodera, O., Hayasaka, K. A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 95: 294-300, 2014.
2014
25152455item
item
item
1224Tan-Sindhunata, M. B., Mathijssen, I. B., Smit, M., Baas, F., de Vries, J. I., van der Voorn, J. P., Kluijt, I., Hagen, M. A., Blom, E. W., Sistermans, E., Meijers-Heijboer, H., Waisfisz, Q., Weiss, M. M., Groffen, A. J. Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. Europ. J. Hum. Genet. 23: 1151-1157, 2015.
2015
25537362item
1225Tang, B.; Luo, W.; Xia, K.; Xiao, J.; Jiang, H.; Shen, L.; Tang, J.; Zhao, G.; Cai, F.; Pan, Q.; Dai, H.; Yang, Q.; Xia, J.; Evgrafov, O. V. : A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. Hum. Genet. 114: 527-533, 2004.
2004
15021985item
1226Tang, B.; Zhao, G.; Luo, W.; Xia, K.; Cai, F.; Pan, Q.; Zhang, R.; Zhang, F.; Liu, X.; Chen, B.; Zhang, C.; Shen, L.; Jiang, H.; Long, Z.; Dai, H. : Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum. Genet. 116: 222-224, 2005.
2005
15565283item
1227Tanigawa G, Jarcho JA, Kass S, Solomon SD, Vosberg HP, Seidman JG, Seidman CE. A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. Cell. 1990 Sep 7;62(5):991-8.
1990
2144212item
1228Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet. 2003 Mar 1;12(5):527-34.
2003
12588800item
item
item
item
1229Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, DiDonato S. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet. 1993 Jul;4(3):314-20.
1993
8358442item
1230Tarui, S.; Okuno, G.; Ikura, Y.; Tanaka, T.; Suda, M.; Nishikawa, M. : Phosphofructokinase deficiency in skeletal muscle: a new type of glycogenosis. Biochem. Biophys. Res. Commun. 19: 517-523, 1965.
1965
14339001item
1231Tasca G, Moro F, Aiello C, et al. Limb-girdle muscular dystrophy with alpha-dystroglycan deficiency and mutations in the ISPD gene. Neurology 2013;80:963–5.
2013
23390185item
item
item
1232Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K and Itoyama Y. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Neurology 2002;58:323-5.
2002
11805270item
1233Tawara S, Nakazato M, Kangawa K, Matsuo H, Araki S. Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun. 1983 Nov 15;116(3):880-8.
1983
6651852item
1234Taylor, M. R.; Slavov, D.; Gajewski, A.; Vlcek, S.; Ku, L.; Fain, P. R.; Carniel, E.; Di Lenarda, A.; Sinagra, G.; Boucek, M. M.; Cavanaugh, J.; Graw, S. L.; Ruegg, P.; Feiger, J.; Zhu, X.; Ferguson, D. A.; Bristow, M. R.; Gotzmann, J.; Foisner, R.; Mestroni, L. Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum Mutat 26, 566-74, 2005
2005
16247757item
1235Taylor, R. W., Pyle, A., Griffin, H., Blakely, E. L., Duff, J., He, L., Smertenko, T., Alston, C. L., Neeve, V. C., Best, A., Yarham, J. W., Kirschner, J., and 17 others. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA 312: 68-77, 2014.
2014
25058219item
1236Tesson, C., Nawara, M., Salih, M. A. M., Rossignol, R., Zaki, M. S., Al Balwi, M., Schule, R., Mignot, C., Obre, E., Bouhouche, A., Santorelli, F. M., Durand, C. M., and 30 others. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am. J. Hum. Genet. 91: 1051-1064, 2012
2012
23176821item
1237Tesson, C., Nawara, M., Salih, M. A. M., Rossignol, R., Zaki, M. S., Al Balwi, M., Schule, R., Mignot, C., Obre, E., Bouhouche, A., Santorelli, F. M., Durand, C. M., and 30 others. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am. J. Hum. Genet. 91: 1051-1064, 2012.
2012
23176821item
1238Tetreault M, Duquette A, Thiffault I, Bherer C, Jarry J, Loisel L, Banwell B, D'Anjou G, Mathieu J, Robitaille Y, Vanasse M, Brais B. A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. Brain. 2006 Aug;129(Pt 8):2077-84. Epub 2006 Jun 7.
2006
16760198item
item
item
1239Tetreault, M., Gonzalez, M., Dicaire, M.-J., Allard, P., Gehring, K., Leblanc, D., Leclerc, N., Schondorf, R., Mathieu, J., Zuchner, S., Brais, B. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain 138: 1477-1483, 2015.
2015
25818867item
1240Tey S, Shahrizaila N, Drew AP, Samulong S, Goh KJ, Battaloglu E, Atkinson D, Parman Y, Jordanova A, Chung KW, Choi BO, Li YC, Auer-Grumbach M, Nicholson GA, Kennerson ML, Ahmad-Annuar A. Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family. Neurogenetics. 2019 Apr 22. doi: 10.1007/s10048-019-00576-3.
2019
31011849item
1241Tezenas du Montcel, S.; Clot, F.; Vidailhet, M.; Roze, E.; Damier, P.; Jedynak, C. P.; Camuzat, A.; Lagueny, A.; Vercueil, L.; Doummar, D.; Guyant-Marechal, L.; Houeto, J.-L.; and 10 others : Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J. Med. Genet. 43: 394-400, 2006.
2006
16227522item
1242Theis, J. L., Bos, J. M., Bartleson, V. B., Will, M. L., Binder, J., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J. Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun. 351: 896-902, 2006.
2006
17097056item
1243Theis, J. L., Sharpe, K. M., Matsumoto, M. E., Chai, H. S., Nair, A. A., Theis, J. D., de Andrade, M., Wieben, E. D., Michels, V. V., Olson, T. M. Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. Circ. Cardiovasc. Genet. 4: 585-594, 2011.
2011
21965549item
1244Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994 Jun 3;77(5):701-12.
1994
8205619item
item
1245Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain. 2006 Sep;129(Pt 9):2332-40. Epub 2006 May 3.
2006
16672289item
1246Thomas, A. C., Williams, H., Seto-Salvia, N., Bacchelli, C., Jenkins, D., O'Sullivan, M., Mengrelis, K., Ishida, M., Ocaka, L., Chanudet, E., James, C., Lescai, F., and 22 others. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. Am. J. Hum. Genet. 95: 611-621, 2014. Note: Erratum: Am. J. Hum. Genet. 96: 1008-1009, 2015.
2015
25439728item
item
1247Thomas, N. S. T.; Williams, H.; Cole, G.; Roberts, K.; Clarke, A.; Liechti-Gallati, S.; Braga, S.; Gerber, A.; Meier, C.; Moser, H.; Harper, P. S. : X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. J. Med. Genet. 27: 284-287, 1990.
1990
2352256 item
1248Thompson, K., Majd, H., Dallabona, C., Reinson, K., King, M. S., Alston, C. L., He, L., Lodi, T., Jones, S. A., Fattal-Valevski, A., Fraenkel, N. D., Saada, A., and 16 others. Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number. Am. J. Hum. Genet. 99: 860-876, 2016. Note: Erratum: Am. J. Hum. Genet. 99: 1405 only, 2016.
2016
27693233item
1249Tiab, L.; d'Alleves Manzi, V.; Borruat, F.-Z.; Munier, F. L.; Schorderet, D. F. : Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. Ophthal. Genet. 25: 241-246, 2004.
2004
15621876item
1250Tian Y, Wang JL, Huang W, Zeng S, Jiao B, Liu Z, Chen Z, Li Y, Wang Y, Min HX, Wang XJ, You Y, Zhang RX, Chen XY, Yi F, Zhou YF, Long HY, Zhou CJ, Hou X, Wang JP, Xie B, Liang F, Yang ZY, Sun QY, Allen EG, Shafik AM, Kong HE, Guo JF, Yan XX, Hu ZM, Xia K, Jiang H, Xu HW, Duan RH, Jin P, Tang BS, Shen L. Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders. PMID: 31178126
2019
31178126item
1251Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum. Molec. Genet. 21: 4151-4161, 2012.
2012
22492991
1252Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet. 1992 Jun;1(3):171-5. Erratum in: Nat Genet 1992 Sep;2(1):84.
1992
1303230item
1253Timmerman V, Raeymaekers P, De Jonghe P, De Winter G, Swerts L, Jacobs K, Gheuens J, Martin JJ, Vandenberghe A, Van Broeckhoven C. Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. Am J Hum Genet. 1990 Oct;47(4):680-5.
1990
2220808item
1254Timmerman, V., Raeymaekers, P., Nelis, E., De Jonghe, P., Muylle, L., Ceuterick, C., Martin, J.-J., Van Broeckhoven, C. Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. J. Neurol. Sci. 109: 41-48, 1992.
1992
1517763item
item
1255Tischfield, M. A., Baris, H. N., Wu, C., Rudolph, G., Van Maldergem, L., He, W., Chan, W.-M., Andrews, C., Demer, J. L., Robertson, R. L., Mackey, D. A., Ruddle, J. B., and 37 others Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 140: 74-87, 2010.
2010
20074521item
1256Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001:10:189-194.
2001
11159936item
1257Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Suzuki M [corrected to Sakai M, et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet. 1993 Nov;5(3):283-6. Erratum in: Nat Genet 1994 May;7(1):113.
1994
8275093item
1258Tome FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, Barois A, Campbell KP, Fardeau M. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III. 1994 Apr;317(4):351-7.
1994
8000914item
1259Topaloglu, H., Brockington, M., Yuva, Y., Talim, B., Haliloglu, G., Blake, D., Torelli, S., Brown, S. C., Muntoni, F. FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology 60: 988-992, 2003. Note: Erratum: Neurology 60: 1875 only, 2003.
2003
12654965item
1260Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R, Savarese M, Garofalo A, Piluso G, Morandi L, Ricci G, Siciliano G, Angelini C, Nigro V. Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS One. 2013 May 7;8(5):e63536.
2013
23667635item
1261Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ. Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A 2006;140: 2387-2393.
2006
17041932item
1262Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 2006;38:561-565
2006
16642020item
item
1263Tranebjaerg, L.; Teslovich, T. M.; Jones, M.; Barmada, M. M.; Fagerheim, T.; Dahl, A.; Escolar, D. M.; Trent, J. M.; Gillanders, E. M.; Stephan, D. A. : Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13. Hum. Genet. 113: 293-295, 2003.
2003
12811539item
1264Tsai P.C., Soong B.W., Mademan I., Huang Y.H., Liu C.R., Hsiao C.T., et al. A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Brain. 2017 Mar 22.
2017
28369220item
1265Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet. 2008 Feb;82(2):510-5. Epub 2008 Jan 18.
2008
18252231item
1266Tsaousidou, M. K., Ouahchi, K., Warner, T. T., Yang, Y., Simpson, M. A., Laing, N. G., Wilkinson, P. A., Madrid, R. E., Patel, H., Hentati, F., Patton, M. A., Hentati, A., Lamont, P. J., Siddique, T., Crosby, A. H. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am. J. Hum. Genet. 82: 510-515, 2008.
2008
18252231item
1267Tsoi, H., Yu, A. C. S., Chen, Z. S., Ng, N. K. N., Chan, A. Y. Y., Yuen, L. Y. P., Abrigo, J. M., Tsang, S. Y., Tsui, S. K. W., Tong, T. M. F., Lo, I. F. M., Lam, S. T. S., Mok, V. C. T., Wong, L. K. S., Ngo, J. C. K., Lau, K.-F., Chan, T.-F., Chan, H. Y. E. A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. J. Med. Genet. 51: 590-595, 2014.
2014
25062847item
1268Tsubata, S.; Bowles, K. R.; Vatta, M.; Zintz, C.; Titus, J.; Muhonen, L.; Bowles, N. E.; Towbin, J. A. : Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J. Clin. Invest. 106: 655-662, 2000.
2000
10974018item
1269Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. Epub 2003 May 23.
2003
12766226item
1270Tsujino S, Shanske S, DiMauro S. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med. 1993 Jul 22;329(4):241-5.
1993
8316268item
1271Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am J Hum Genet. 1993 Mar;52(3):472-7.
1993
8447317item
1272Tyson, J., L. Tranebjaerg, S. Bellman, C. Wren, J. F. Taylor, J. Bathen, B. Aslaksen, S. J. Sorland, O. Lund, S. Malcolm, M. Pembrey, S. Bhattacharya and M. Bitner-Glindzicz IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet 1997, 6, 2179-85.
1997
9328483item
1273Tyynismaa, H., Sun, R., Ahola-Erkkila, S., Almusa, H., Poyhonen, R., Korpela, M., Honkaniemi, J., Isohanni, P., Paetau, A., Wang, L., Suomalainen, A. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Hum. Molec. Genet. 21: 66-75, 2012.
2012
21937588item
1274Tyynismaa, H., Ylikallio, E., Patel, M., Molnar, M. J., Haller, R. G., Suomalainen, A. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am. J. Hum. Genet. 85: 290-295, 2009.
2009
19664747item
1275Ueda, K., Hirano, Y., Higashiuesato, Y., Aizawa, Y., Hayashi, T., Inagaki, N., Tana, T., Ohya, Y., Takishita, S., Muratani, H., Hiraoka, M., Kimura, A. Role of HCN4 channel in preventing ventricular arrhythmia. J. Hum. Genet. 54: 115-121, 2009.
2009
19165230item
1276Ueda, K., Valdivia, C., Medeiros-Domingo, A., Tester, D. J., Vatta, M., Farrugia, G., Ackerman, M. J., Makielski, J. C. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc. Nat. Acad. Sci. 105: 9355-9360, 2008.
2008
18591664item
1277Upadhyaya M, Lunt P, Sarfarazi M, Broadhead W, Farnham J, Harper PS. The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet. 1992 Aug;51(2):404-10.
1992
1642238item
1278Upadhyaya M, Lunt PW, Sarfarazi M, Broadhead W, Daniels J, Owen M, Harper PS. DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease. Lancet. 1990 Nov 24;336(8726):1320-1.
1990
1978143item
1279Utine, G. E., Haliloglu, G., Salanci, B., Cetinkaya, A., Kiper, P. O., Alanay, Y., Aktas, D., Boduroglu, K., Alikasifoglu, M. A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. J. Child Neurol. 28: 926-932, 2013.
2013
23611888item
1280Vahedi K, Joutel A, Van Bogaert P, et al. A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann Neurol 1995;37:289- 293.
1995
7695228item
item
1281Valdes-Mas, R., Gutierrez-Fernandez, A., Gomez, J., Coto, E., Astudillo, A., Puente, D. A., Reguero, J. R., Alvarez, V., Moris, C., Leon, D., Martin, M., Puente, X. S., Lopez-Otin, C. Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. Nature Commun. 5: 5326, 2014. Note: Electronic Article.
2014
25351925item
1282Valdmanis, P. N.; Meijer, I. A.; Reynolds, A.; Lei, A.; MacLeod, P.; Schlesinger, D.; Zatz, M.; Reid, E.; Dion, P. A.; Drapeau, P.; Rouleau, G. A. : Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am. J. Hum. Genet. 80: 152-161, 2007.
2007
17160902item
1283Valente, E. M.; Brancati, F.; Caputo, V.; Bertini, E.; Patrono, C.; Costanti, D.; Dallapiccola, B. : Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. Ann. Neurol. 51: 681-685, 2002.
2002
12112072item
1284Van Damme, P., Veldink, J. H., van Blitterswijk, M., Corveleyn, A., van Vught, P. W. J., Thijs, V., Dubois, B., Matthijs, G., van den Berg, L. H., Robberecht, W. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology 76: 2066-2072, 2011.
2011
21562247item
1285van de Leemput, J.; Chandran, J.; Knight, M. A.; Holtzclaw, L. A.; Scholz, S.; Cookson, M. R.; Houlden, H.; Gwinn-Hardy, K.; Fung, H.-C.; Lin, X.; Hernandez, D.; Simon-Sanchez, J.; and 11 others : Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 3: e108, 2007.
2007
17590087item
1286van de Locht M, Donkervoort S, de Winter JM, Conijn S, Begthel L, Kusters B, Mohassel P, Hu Y, Medne L, Quinn C, Moore SA, Foley AR, Seo G, Hwee DT, Malik FI, Irving T, Ma W, Granzier HL, Kamsteeg EJ, Immadisetty K, Kekenes-Huskey P, Pinto JR, Voermans N, Bönnemann CG, Ottenheijm CA. Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium. J Clin Invest. 2021 May 3;131(9):e145700. doi: 10.1172/JCI145700. PMID: 33755597; PMCID: PMC8087209.
33755597item
1287van den Brink, D. M.; Brites, P.; Haasjes, J.; Wierzbicki, A. S.; Mitchell, J.; Lambert-Hamill, M.; de Belleroche, J.; Jansen, G. A.; Waterham, H. R.; Wanders, R. J. A. : Identification of PEX7 as the second gene involved in Refsum disease. Am. J. Hum. Genet. 72: 471-477, 2003.
2003
12522768item
1288van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet. 1997 Apr;60(4):891-5.
1997
9106535item
1289van der Maarel, S. M.; Frants, R. R. : The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. Am. J. Hum. Genet. 76: 375-386, 2005.
2005
15674778item
1290Van der Vleuten, A. J. W.; van Ravenswaaij-Arts, C. M. A.; Frijns, C. J. M.; Smits, A. P. T.; Hageman, G.; Padberg, G. W.; Kremer, H. : Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24. Europ. J. Hum. Genet. 6: 376-382, 1998.
1998
9781046item
1291Van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet. 1993 Dec;2(12):2037-42.
1993
8111371item
1292Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet. 2001 Jul;28(3):211-2.
2001
11431686item
1293Van Goethem, G., Schwartz, M., Lofgren, A., Dermaut, B., Van Broeckhoven, C., Vissing, J. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Europ. J. Hum. Genet. 11: 547-549, 2003.
2003
12825077item
1294Van Haute L, Dietmann S, Kremer L, Hussain S, Pearce SF, Powell CA, Rorbach J, Lantaff R, Blanco S, Sauer S, Kotzaeridou U, Hoffmann GF, Memari Y, Kolb-Kokocinski A, Durbin R, Mayr JA, Frye M, Prokisch H, Minczuk M. Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3. Nat Commun. 2016 Jun 30;7:12039. doi: 10.1038/ncomms12039. PMID: 27356879; PMCID: PMC4931328.
2016
27356879item
1295van Hengel, J., Calore, M., Bauce, B., Dazzo, E., Mazzotti, E., De Bortoli, M., Lorenzon, A., Li Mura, I. E. A., Beffagna, G., Rigato, I., Vleeschouwers, M., Tyberghein, K., and 10 others. Mutations in the area composita protein alpha-T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. Europ. Heart J. 34: 201-210, 2013.
2013
23136403item
1296Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ. Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. Circulation. 2007 Nov 13;116(20):2253-9. Epub 2007 Oct 29.
2007
17967976item
1297van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005 Dec;42(12):907-12. Epub 2005 May 13.
2005
15894594item
1298van Reeuwijk, J.; Maugenre, S.; van den Elzen, C.; Verrips, A.; Bertini, E.; Muntoni, F.; Merlini, L.; Scheffer, H.; Brunner, H. G.; Guicheney, P.; van Bokhoven, H.: The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum. Mutat. 27: 453-459, 2006.
2006
16575835item
1299van Swieten, J. C.; Brusse, E.; de Graaf, B. M.; Krieger, E.; van de Graaf, R.; de Koning, I.; Maat-Kievit, A.; Leegwater, P.; Dooijes, D.; Oostra, B. A.; Heutink, P. : A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral (sic) ataxia. Am. J. Hum. Genet. 72: 191-199, 2003.
2003
12489043item
1300van Tol W, Ashikov A, Korsch E, et al. A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy. JIMD Rep. 2019;50(1):31-39. Published 2019 Sep 30. doi:10.1002/jmd2.12060
2019
31741824item
1301Vance JM, Nicholson GA, Yamaoka LH, Stajich J, Stewart CS, Speer MC, Hung WY, Roses AD, Barker D, Pericak-Vance MA. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol. 1989 May;104(2):186-9.
1989
2707366item
1302Vance, C.; Rogelj, B.; Hortobagyi, T.; De Vos, K. J.; Nishimura, A. L.; Sreedharan, J.; Hu, X.; Smith, B.; Ruddy, D.; Wright, P.; Ganesalingam, J.; Williams, K. L.; and 10 others : Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323: 1208-1211, 2009.
2009
19251628item
1303Varga, R.-E., Schule, R., Fadel, H., Valenzuela, I., Speziani, F., Gonzalez, M., Rudenskaia, G., Nurnberg, G., Thiele, H., Altmuller, J., Alvarez, V., Gamez, J., Garbern, J. Y., Nurnberg, P., Zuchner, S., Beetz, C. Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. Hum. Mutat. 34: 860-863, 2013.
2013
23483706item
1304Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochm²ºller H, M²ºllner-Eidenb²∂ck A, Merlini L, Neumann L, B²ºrger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003 Oct;35(2):185-9. Epub 2003 Sep 21.
2003
14517542item
item
item
1305Vasile V C, Will M L, Ommen S R, Edwards W D, Olson T M, Ackerman M J. Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. Mol Genet Metab 2006; 87: 169-74.
2006
16236538item
item
item
1306Vasli, N., Harris, E., Karamchandani, J., Bareke, E., Majewski, J., Romero, N. B., Stojkovic, T., Barresi, R., Tasfaout, H., Charlton, R., Malfatti, E., Bohm, J., and 13 others. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain 140: 37-48, 2017
2017
27816943item
item
item
1307Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ and Towbin JA. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 2006;114:2104-12.
2006
17060380item
1308Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol. 2003 Dec 3;42(11):2014-27.
2003
14662268item
item
1309Vatta, M., Mohapatra, B., Jimenez, S., Sanchez, X., Faulkner, G., Perles, Z., Sinagra, G., Lin, J.-H., Vu, T. M., Zhou, Q., Bowles, K. R., Di Lenarda, A., and 10 others. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J. Am. Coll. Cardiol. 42: 2014-2017, 2003.
2003
14662268
1310Vazza, G.; Zortea, M.; Boaretto, F.; Micaglio, G. F.; Sartori, V.; Mostacciuolo, M. L. : A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. Am. J. Hum. Genet. 67: 504-509, 2000.
2000
10877981item
1311Verbeek, D. S.; Schelhaas, J. H.; Ippel, E. F.; Beemer, F. A.; Pearson, P. L.; Sinke, R. J. : Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. Hum. Genet. 111: 388-393, 2002.
2002
12384780item
1312Verbeek, D. S.; van de Warrenburg, B. P.; Wesseling, P.; Pearson, P. L.; Kremer, H. P.; Sinke, R. J. : Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. Brain 127: 2551-2557, 2004.
2004
15306549item
1313Verhoeven K, Villanova M, Rossi A, Malandrini A, De Jonghe P, Timmerman V. Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am J Hum Genet. 2001 Oct;69(4):889-94. Epub 2001 Aug 30.
2001
11533914item
1314Verhoeven, K.; De Jonghe, P.; Van de Putte, T.; Nelis, E.; Zwijsen, A.; Verpoorten, N.; De Vriendt, E.; Jacobs, A.; Van Gerwen, V.; Francis, A.; Ceuterick, C.; Huylebroeck, D.; Timmerman, V. : Slowed conduction and thin myelination of peripheral nerves associated with mutant Rho guanine-nucleotide exchange factor 10. Am. J. Hum. Genet. 73: 926-932, 2003.
2003
14508709item
1315Verkerk, A. J. M. H., Schot, R., Dumee, B., Schellekens, K., Swagemakers, S., Bertoli-Avella, A. M., Lequin, M. H., Dudink, J., Govaert, P., van Zwol, A. L., Hirst, J., Wessels, M. W., and 9 others. Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am. J. Hum. Genet. 85: 40-52, 2009.
2009
19559397item
1316Vermeer, S., Hoischen, A., Meijer, R. P. P., Gilissen, C., Neveling, K., Wieskamp, N., de Brouwer, A., Koenig, M., Anheim, M., Assoum, M., Drouot, N., Todorovic, S., and 18 others. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am. J. Hum. Genet. 87: 813-819, 2010.
2010
21092923item
1317Vester, A., Velez-Ruiz, G., McLaughlin, H. M., NISC Comparative Sequencing Program, Lupski, J. R., Talbot, K., Vance, J. M., Zuchner, S., Roda, R. H., Fischbeck, K. H., Biesecker, L. G., Nicholson, G., Beg, A. A., Antonellis, A. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum. Mutat. 34: 191-199, 2013.
2013
22930593item
1318Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, Basson CT. Mutation of perinatal myosin heavy chain associated with a Carney complex variant. N Engl J Med 2004;351:460-469.
2004
15282353item
1319Vieira, N. M., Naslavsky, M. S., Licinio, L., Kok, F., Schlesinger, D., Vainzof, M., Sanchez, N., Kitajima, J. P., Gal, L., Cavacana, N., Serafini, P. R., Chuartzman, S., Vasquez, C., Mimbacas, A., Nigro, V., Pavanello, R. C., Schuldiner, M., Kunkel, L. M., Zatz, M. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum. Molec. Genet. 23: 4103-4110, 2014.
2014
24647604item
1320Vihola A, Palmio J, Danielsson O, Penttilä S, Louiselle D, Pittman S, Weihl C, Udd B. Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression. Neurol Genet. 2019 May 2;5(3):e337. doi: 10.1212/NXG.0000000000000337. eCollection 2019 Jun. PubMed PMID: 31192305; PubMed Central PMCID: PMC6515942.
2019
31192305item
1321Villar-Quiles RN, Gomez-Garcia de la Banda M, Barois A, et al. Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy. J Neuromuscul Dis. 2020;7(1):69-76.
2020
31796684item
1322Villard, L.; des Portes, V.; Levy, N.; Louboutin, J.-P.; Recan, D.; Coquet, M.; Chabrol, B.; Figarella-Branger, D.; Chelly, J.; Pellissier, J.-F.; Fontes, M. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. Europ. J. Hum. Genet. 8: 125-129, 2000.
2000
10757644item
1323Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, Billette De Villemeur T, Bonneau D, Saugier-Veber P, Touzery-De Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J, Munnich A. Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families. Eur J Hum Genet. 2004 Jun;12(6):483-8.
2004
15054395item
1324Vissing, J., Barresi, R., Witting, N., Van Ghelue, M., Gammelgaard, L., Bindoff, L. A., Straub, V., Lochmuller, H., Hudson, J., Wahl, C. M., Arnardottir, S., Dahlbom, K., Jonsrud, C., Duno, M. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Brain 139: 2154-2163, 2016.016
2016
27259757item
item
1325Vissing, J., Johnson, K., Topf, A., Nafissi, S., Diaz-Manera, J., French, V. M., Schindler, R. F., Sarathchandra, P., Lokken, N, Rinne, S., Freund, M., Decher, N., Muller, T., Duno, M., Krag, T., Brand, T., Straub, V. POPDC3 gene variants associate with a new form of limb girdle muscular dystrophy. Ann. Neurol. 86: 832-843, 2019.
2019
3161003
1326Vogt, J., Harrison, B. J., Spearman, H., Cossins, J., Vermeer, S., ten Cate, L. N., Morgan, N. V., Beeson, D., Maher, E. R. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am. J. Hum. Genet. 82: 222-227, 2008
2008
18179903item
1327Vogt, J., Morgan, N. V., Marton, T., Maxwell, S., Harrison, B. J., Beeson, D., Maher, E. R. Germline mutation in DOK7 associated with fetal akinesia deformation sequence. J. Med. Genet. 46: 338-340, 2009.
2009
19261599item
1328Von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE. Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet. 1995 Feb;4(2):279-84.
1995
7757080item
item
item
item
item
item
1329Vora S, Durham S, de Martinville B, George DL, Francke U. Assignment of the human gene for muscle-type phosphofructokinase (PFKM) to chromosome 1 (region cen leads to q32) using somatic cell hybrids and monoclonal anti-M antibody. Somatic Cell Genet. 1982 Jan;8(1):95-104.
1982
6213050item
1330Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, Schroder R, Lochmuller H, Himmel M, Koehler K, Furst DO, Huebner A. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet. 2005 Aug;77(2):297-304. Epub 2005 May 31.
2005
15929027item
item
1331Vuillaume, I.; Devos, D.; Schraen-Maschke, S.; Dina, C.; Lemainque, A.; Vasseur, F.; Bocquillon, G.; Devos, P.; Kocinski, C.; Marzys, C.; Destee, A.; Sablonniere, B. : A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1. Ann. Neurol. 52: 666-670, 2002.
2002
12402269item
1332Vuillaumier-Barrot, S., Bouchet-Seraphin, C., Chelbi, M., Devisme, L., Quentin, S., Gazal, S., Laquerriere, A., Fallet-Bianco, C., Loget, P., Odent, S., Carles, D., Bazin, A., and 14 others. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am. J. Hum. Genet. 91: 1135-1143, 2012.
2012
23217329item
item
item
item
1333Walinka van Tol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A Willemsen, Christian Thiel, Dirk J Lefeber. A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy. JIMD Rep. 2019 Sep 30;50(1):31-39. doi: 10.1002/jmd2.12060. eCollection 2019 Nov.
2019
31741824item
1334Wallgren-Pettersson C, Lehtokari V L, Kalimo H, Paetau A, Nuutinen E, Hackman P, Sewry C, Pelin K, Udd B. Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain 2007; 130: 1465-76.
2007
17525139item
1335Wallgren-Pettersson C, Avela K, Marchand S, Kolehmainen J, Tahvanainen E, Hansen FJ, Muntoni F, Dubowitz V, De Visser M, Van Langen IM, et al. A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. Neuromuscul Disord. 1995 Nov;5(6):441-3.
1995
8580725item
1336Wallgren-Pettersson, C.; Donner, K.; Sewry, C.; Bijlsma, E.; Lammens, M.; Bushby, K.; Giovannucci Uzielli, M. L.; Lapi, E.; Odent, S.; Akcoren, Z.; Topaloglu, H.; Pelin, K. : Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromusc. Disord. 12: 674-679, 2002.
2002
12207937item
1337Wan, J., Steffen, J., Yourshaw, M., Mamsa, H., Andersen, E., Rudnik-Shoneborn, S., Pope, K., Howell, K. B., McLean, C. A., Kornberg, A. J., Joseph, J., Lockhart, P. J., Zerres, K., Ryan, M. M., Nelson, S. F., Koehler, C. M., Jen, J. C. Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. Brain 139: 2877-2890, 2016.
2016
27543974item
1338Wang H, Li Z, Wang J, Sun K, Cui Q, Song L, Zou Y, Wang X, Liu X, Hui R, Fan Y. Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. Am J Hum Genet. 2010 Nov 12;87(5):687-93. Epub 2010 Oct 21.
2010
20970104item
1339Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996 Jan;12(1):17-23.
1996
8528244item
item
item
item
item
1340Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995 Mar 10;80(5):805-11.
1995
7889574item
item
1341Wang, H.-L.; Milone, M.; Ohno, K.; Shen, X-M.; Tsujino, A.; Batocchi,m A. P.; Tonali, P.; Brengman, J.; Engel, A. G.; Sine, S. M. : Acetylcholine receptor M3 domain: sterochemical and volume contributions to channel gating. Nature Neurosci. 2: 226-233, 1999.
1999
10195214item
1342Wang, J. L., Yang, X., Xia, K., Hu, Z. M., Weng, L., Jin, X., Jiang, H., Zhang, P., Shen, L., Guo, J. F., Li, N., Li, Y. R., and 9 others. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain 133: 3510-3518, 2010.
2010
21106500item
item
1343Wang, S. M.; Zwaan, J.; Mullaney, P. B.; Jabak, M. H.; Al-Awad, A.; Beggs, A. H.; Engle, E. C. : Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am. J. Hum. Genet. 63: 517-525, 1998.
1998
9683611item
1344Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 1998 Apr;18(4):382-4.
1998
9537424item
item
1345Warner, L. E.; Hilz, M. J.; Appel, S. H.; Killian, J. M.; Kolodny, E. H.; Karpati, G.; Carpenter, S.; Watters, G. V.; Wheeler, C.; Witt, D.; Bodell, A.; Nelis, E.; Van Broeckhoven, C.; Lupski, J. R. : Clinical phenotypes of different MPZ(P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17: 451-460, 1996.
1996
8816708item
1346Watanabe, H., Darbar, D., Kaiser, D. W., Jiramongkolchai, K., Chopra, S., Donahue, B. S., Kannankeril, P. J., Roden, D. M. Mutations in sodium channel beta-1- and beta-2-subunits associated with atrial fibrillation. Circ. Arrhythm. Electrophysiol. 2: 268-278, 2009.
2009
19808477item
item
1347Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J.-J., Demolombe, S., Probst, V., Anselme, F., Escande, D., Wiesfeld, A. C. P., Pfeufer, A., Kaab, S., Wichmann, H.-E., Hasdemir, C., Aizawa, Y., Wilde, A. A. M., Roden, D. M., Bezzina, C. R. Sodium channel beta-1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J. Clin. Invest. 118: 2260-2268, 2008.
2008
18464934item
1348Waters, M. F.; Minassian, N. A.; Stevanin, G.; Figueroa, K. P.; Bannister, J. P. A.; Nolte, D.; Mock, A. F.; Evidente, V. G. H.; Fee, D. B.; Muller, U.; Durr, A.; Brice, A.; Papazian, D. M.; Pulst, S. M. : Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental nervous system phenotypes. Nature Genet. 38: 447-451, 2006.
2006
16501573item
1349Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ, Maron BJ, Seidman JG, Seidman CE. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet. 1995 Dec;11(4):434-7.
1995
7493025item
item
1350Watkins H, MacRae C, Thierfelder L, Chou YH, Frenneaux M, McKenna W, Seidman JG, Seidman CE. A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nat Genet. 1993 Apr;3(4):333-7.
1993
7981753item
1351Watson CM, Crinnion LA, Murphy H, Newbould M, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Sheridan E, Bonthron DT, Smith A. Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia. J Med Genet. 2016 Apr;53(4):264-9. doi: 10.1136/jmedgenet-2015-103620. Epub 2016 Jan 5. PMID: 26733463; PMCID: PMC4819622.
2016
26733463item
1352Watson, L. M., Bamber, E., Schnekenberg, R. P., Williams, J., Bettencourt, C., Jayawant, S., Lickiss, J., Fawcett, K., Clokie, S., Wallis, Y., Clouston, P., Sims, D., Houlden, H., Becker, E. B. E., Nemeth, A. H. Dominant mutations in GRM1 cause spinocerebellar ataxia type 44. Am. J. Hum. Genet. 101: 451-458, 2017. Note: Erratum: Am. J. Hum. Genet. 101: 866 only, 2017.
2017
28886343item
1353Watts, G. D. J.; Wymer, J.; Kovach, M. J.; Mehta, S. G.; Mumm, S.; Darvish, D.; Pestronk, A.; Whyte, M. P.; Kimonis, V. E. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nature Genet. 36: 377-381, 2004.
2004
15034582item
1354Weedon, M. N., Hastings, R., Caswell, R., Xie, W., Paszkiewicz, K., Antoniadi, T., Williams, M., King, C., Greenhalgh, L., Newbury-Ecob, R., Ellard, S. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 89: 308-312, 2011
2011
21820100item
1355Wehner M, Clemens PR, Engel AG, Kilimann MW. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Hum Mol Genet. 1994 Nov;3(11):1983-7.
1994
7874115item
1356Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, Fujiwara TM, Morgan K, Wrogemann K. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. Am J Hum Genet. 1998 Jul;63(1):140-7.
1998
9634523item
1357Weiss, R.; Barmada, M. M.; Nguyen, T.; Seibel, J. S.; Cavlovich, D.; Kornblit, C. A.; Angelilli, A.; Villanueva, F.; McNamara, D. M.; London, B. : Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3. Circulation 105: 707-713, 2002.
2002
11839626item
1358Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, et al. 2013. Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. Brain 136: 282–293.doi:10.1093/brain/aws293
2013
31127036item
1359Weterman, M. A., Sorrentino, V., Kasher, P. R., Jakobs, M. E., van Engelen, B. G. M., Fluiter, K., de Wissel, M. B., Sizarov, A., Nurnberg, G., Nurnberg, P., Zelcer, N., Schelhaas, H. J., Baas, F. A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. Hum. Molec. Genet. 21: 358-370, 2012.
2012
22012984item
1360Wiessner, M., Roos, A., Munn, C. J., Viswanathan, R., Whyte, T., Cox, D., Schoser, B., Sewry, C., Roper, H., Phadke, R., Bettolo, C. M., Barresi, R. and 26 others. Mutations in INPP5K, encoding a phosphoinositide 5-phosphatase, cause congenital muscular dystrophy with cataracts and mild cognitive impairment. Am. J. Hum. Genet. 100: 523-536, 2017.
2017
28190456item
1361Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet. 1990 Sep 15;336(8716):651-3.
1990
1975852item
1362Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet. 1992 Sep;2(1):26-30.
1992
1363881item
1363Wijmenga C, Padberg GW, Moerer P, Wiegant J, Liem L, Brouwer OF, Milner EC, Weber JL, van Ommen GB, Sandkuyl LA, et al. Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Genomics. 1991 Apr;9(4):570-5.
1991
2037288item
1364Wijmenga C, Wright TJ, Baan MJ, Padberg GW, Williamson R, van Ommen GJ, Hewitt JE, Hofker MH, Frants RR. Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region. Hum Mol Genet. 1993 Oct;2(10):1667-72.
1993
8268920item
1365Wilkinson, P. A.; Simpson, M. A.; Bastaki, L.; Patel, H.; Reed, J. A.; Kalidas, K.; Samilchuk, E.; Khan, R.; Warner, T. T.; Crosby, A. H. : A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. (Letter) J. Med. Genet. 42: 80-82, 2005.
2005
15635080item
1366Willer, T., Lee, H., Lommel, M., Yoshida-Moriguchi, T., Valero de Bernabe, D. B., Venzke, D., Cirak, S., Schachter, H., Vajsar, J., Voit, T., Muntoni, F., Loder, A. S., Dobyns, W. B., Winder, T. L., Strahl, S., Mathews, K. D., Nelson, S. F., Moore, S. A., Campbell, K. P. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nature Genet. 44: 575-580, 2012.
2012
22522420item
1367Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, M²ºller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 Nov;68(5):717-26.
2010
20839240item
1368Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, L²∂scher WN, Wagner K, Lochm²ºller H, Vincent JB, Quasthoff S. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet. 2008 Jan;82(1):88-99.
2008
18179888item
1369Windpassinger, C.; Auer-Grumbach, M.; Irobi, J.; Patel, H.; Petek, E.; Horl, G.; Malli, R.; Reed, J. A.; Dierick, I.; Verpoorten, N.; Warner, T. T.; Proukakis, C.; Van den Bergh, P.; Verellen, C.; Van Maldergem, L.; Merlini, L.; De Jonghe, P.; Timmerman, V.; Crosby, A. H.; Wagner, K. : Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nature Genet. 36: 271-276, 2004.
2004
14981520item
item
item
item
item
item
1370Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. Hum Mutat. 2021 Feb;42(2):135-141. doi: 10.1002/humu.24137. Epub 2020 Nov 30. PMID: 33169484; PMCID: PMC7898715.
2020
33169484item
1371Wojcik MH, Okada K, Prabhu SP, Nowakowski DW, Ramsey K, Balak C, Rangasamy S, Brownstein CA, Schmitz-Abe K, Cohen JS, Fatemi A, Shi J, Grant EP, Narayanan V, Ho HH, Agrawal PB. De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A. 2018 Aug 27. doi: 10.1002/ajmg.a.40493.
2018
30151950item
1372Wokke, J. H. J.; Ausems, M. G. E. M.; van den Boogaard, M.-J. H.; Ippel, E. F.; van Diggelen, O.; Kroos, M. A.; Boer, M.; Jennekens, F. G. I.; Reuser, A. J. J.; Ploos van Amstel, H. K. : Genotype-phenotype correlation in adult-onset acid maltase deficiency. Ann. Neurol. 38: 450-454, 1995.
1995
7668832item
1373Worman HJ, Bonne G. "Laminopathies": a wide spectrum of human diseases. Exp Cell Res. 2007 Jun 10;313(10):2121-33. Epub 2007 Mar 30. Review.
2007
17467691item
1374Worth PF, Giunti P, Gardner-Thorpe C, Dixon PH, Davis MB, Wood NW. Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. Am J Hum Genet. 1999 Aug;65(2):420-6.
1999
10417284item
1375Wright TJ, Wijmenga C, Clark LN, Frants RR, Williamson R, Hewitt JE. Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. Hum Mol Genet. 1993 Oct;2(10):1673-8.
1993
7903581item
item
1376Wu D, Yu W, Kishikawa H, Folkerth RD, Iafrate AJ, Shen Y, Xin W, Sims K and Hu GF. Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. Ann Neurol 2007;62:609-17.
2007
17886298item
1377Wu, C.-H., Fallini, C., Ticozzi, N., Keagle, P. J., Sapp, P. C., Piotrowska, K., Lowe, P., Koppers, M., McKenna-Yasek, D., Baron, D. M., Kost, J. E., Gonzalez-Perez, P., and 26 others. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature 488: 499-503, 2012.
2012
22801503item
1378Xia, M., Jin, Q., Bendahhou, S., He, Y., Larroque, M.-M., Chen, Y., Zhou, Q., Yang, Y., Liu, Y., Liu, B., Zhu, Q., Zhou, Y., and 12 others. A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem. Biophys. Res. Commun. 332: 1012-1019, 2005.
2005
15922306item
1379Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Am J Hum Genet. 2012 Dec 7;91(6):1088-94. doi: 10.1016/j.ajhg.2012.09.018. Epub 2012 Nov 8.
2012
23141294item
1380Yang, A. C., Ng, B. G., Moore, S. A., Rush, J., Waechter, C. J., Raymond, K. M., Willer, T., Campbell, K. P., Freeze, H. H., Mehta, L. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Molec. Genet. Metab. 110: 345-351, 2013.
2013
23856421item
1381Yang, Y., Liu, W., Fang, Z., Shi, J., Che, F., He, C., Yao, L., Wang, E., Wu, Y. A newly identified missense mutation in FARS2 causes autosomal-recessive spastic paraplegia. Hum. Mutat. 37: 165-169, 2016.
2016
26553276item
1382Yang, Y., Yang, Y., Liang, B., Liu, J., Li, J., Grunnet, M., Olesen, S.-P., Rasmussen, H. B., Ellinor, P. T., Gao, L., Lin, X., Li, L., and 9 others. Identification of a Kir3.4 mutation in congenital long QT syndrome. Am. J. Hum. Genet. 86: 872-880, 2010.
2010
20560207item
1383Yang, Y.; Li, J.; Lin, X.; Yang, Y.; Hong, K.; Wang, L.; Liu, J.; Li, L.; Yan, D.; Liang, D.; Xiao, J.; Jin, H.; Wu, J.; Zhang, Y.; Chen, Y.-H. Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation. J. Hum. Genet. 54: 277-283, 2009.
2009
19343045item
1384Ylikallio E, Pöyhönen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lönnqvist T, Tyynismaa H. Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. Hum Mol Genet. 2013 Aug 1;22(15):2975-83. doi: 10.1093/hmg/ddt149. Epub 2013 Apr 4.
2013
23562820item
1385Ylikallio, E., Woldegebriel, R., Tumiati, M., Isohanni, P., Ryan, M. M., Stark, Z., Walsh, M., Sawyer, S. L., Bell, K. M., Oshlack, A., Lockhart, P. J., Shcherbii, M., and 17 others. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain 140: 2093-2103, 2017.
2017
28633435item
1386Yoo D.H., Choi Y.C., Nam D.E., Choi S.S., Kim J.W., Choi B.O., et al. Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome. Mitochondrion. 2017 Jul;35:54-58. doi: 10.1016/j.mito.2017.05.005. Epub 2017 May 9.
2017
28499982item
1387Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev. Cell 1: 717-724, 2001.
2001
11709191item
1388Young K, Foroud T, Williams P, Jackson CE, Beckmann JS, Cohen D, Conneally PM, Tischfield J, Hodes ME. Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. Genomics. 1992 Aug;13(4):1370-1.
1992
1505977item
1389Yu, G.-Y.; Howell, M. J.; Roller, M. J.; Xie, T.-D.; Gomez, C. M. : Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. Ann. Neurol. 57: 349-354, 2005.
2005
15732118item
1390Yuan, J., Matsuura, E., Higuchi, Y., Hashiguchi, A., Nakamura, T., Nozuma, S., Sakiyama, Y., Yoshimura, A., Izumo, S., Takashima, H. Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. Neurology 80: 1641-1649, 2013.
2013
23596073item
1391Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J. Clin. Invest. 124: 4693-4708, 2014.
2014
25250574item
1392Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22. PubMed PMID: 26700687; PubMed Central PMCID: PMC4766374.
2016
26700687item
item
item
1393Zambon AA, Lemaigre A, Phadke R, Grunewald S, Sewry C, Sarkozy A, Clement E, Muntoni F; Genomics England Research Consortium. Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects. Neuromuscul Disord. 2021 Mar;31(3):212-217. doi: 10.1016/j.nmd.2020.12.009. Epub 2021 Jan 6. PMID: 33454187
2021
33454187item
1394Zeharia, A., Shaag, A., Houtkooper, R. H., Hindi, T., de Lonlay, P., Erez, G., Hubert, L., Saada, A., de Keyzer, Y., Eshel, G., Vaz, F. M., Pines, O., Elpeleg, O. Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am. J. Hum. Genet. 83: 489-494, 2008. Note: Erratum: Am. J. Hum. Genet. 84: 95 only, 2009.
2009
18817903item
1395Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M and Shanahan CM. Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss Muscular Dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 2007
2007
17267447item
item
1396Zhang Y, Chen HS, Khanna VK, De Leon S, Phillips MS, Schappert K, Britt BA, Browell AK, MacLennan DH. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet. 1993 Sep;5(1):46-50.
1993
8220422item
1397Zhang, J.; Kumar, A.; Kaplan, L.; Fricker, F. J.; Wallace, M. R.Genetic linkage of a novel autosomal dominant restrictive cardiomyopathy locus. (Letter) J. Med. Genet. 42: 663-665, 2005.
2005
16061566item
1398Zhang, L., Joshi, A. K., Smith, S. Cloning, expression, characterization, and interaction of two components of a human mitochondrial fatty acid synthase: malonyltransferase and acyl carrier protein. J. Biol. Chem. 278: 40067-40074, 2003.
2003
12882974
1399Zhang, X. Y., Wen, J., Yang, W., Wang, C., Gao, L., Zheng, L. H., Wang, T., Ran, K., Li, Y., Li, X., Xu, M., Luo, J., Feng, S., Ma, X., Ma, H., Chai, Z., Zhou, Z., Yao, J., Zhang, X., Liu, J. Y. Gain-of-function mutations in SCN11A cause familial episodic pain. Am. J. Hum. Genet. 93: 957-966, 2013.
2013
24207120item
item
item
1400Zhang, X., Chen, S., Yoo, S., Chakrabarti, S., Zhang, T., Ke, T., Oberti, C., Yong, S. L., Fang, F., Li, L., de la Fuente, R., Wang, L., Chen, Q., Wang, Q. K. Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell 135: 1017-1027, 2008.
2008
19070573item
1401Zhao H, Race V, Matthijs G, De Jonghe P, Robberecht W, Lambrechts D, Van Damme P. Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. Eur J Hum Genet. 2014 Jun;22(6):847-50. doi: 10.1038/ejhg.2013.231. Epub 2013 Oct 9.
2013
24105373item
1402Zhao Z, Hashiguchi A, Hu J, Sakiyama Y, Okamoto Y, Tokunaga S, Zhu L, Shen H, Takashima H. Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy. Neurology. 2012 May 22;78(21):1644-9. Epub 2012 May 9.
2012
22573628item
1403Zhao, G., Hu, Z., Shen, L., Jiang, H., Ren, Z., Liu, X., Xia, K., Guo, P., Pan, Q., Tang, B. A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. Chin. Med. J. 121: 430-434, 2008.
2008
18364116item
item
1404Zhou H, Lian C, Wang T, Yang X, Xu C, Su D, Zheng S, Huang X, Liao Z, Zhou T, Qiu X, Chen Y, Gao B, Li Y, Wang X, You G, Fu Q, Gurnett C, Huang D, Su P. MET mutation causes muscular dysplasia and arthrogryposis. EMBO Mol Med. 2019 Mar;11(3). pii: e9709. doi: 10.15252/emmm.201809709.
2019
30777867item
1405Zhou, J., Tawk, M., Tiziano, F. D., Veillet, J., Bayes, M., Nolent, F., Garcia, V., Servidei, S., Bertini, E., Castro-Giner, F., Renda, Y., Carpentier, S., Andrieu-Abadie, N., Gut, I., Levade, T., Topaloglu, H., Melki, J. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Am. J. Hum. Genet. 91: 5-14, 2012.
2012
22703880item
1406Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan;15(1):62-9.
1997
8988170item
1407Zimon, M., Baets, J., Almeida-Souza, L., De Vriendt, E., Nikodinovic, J., Parman, Y., Battaloglu, G., Matur, Z., Guergueltcheva, V., Tournev, I., Auer-Grumbach, M., De Rijk, P., and 25 others. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nature Genet. 44: 1080-1083, 2012.
2012
22961002item
1408Zimprich, A.; Grabowski, M.; Asmus, F.; Naumann, M.; Berg, D.; Bertram, M.; Scheidtmann, K.; Kern, P.; Winkelmann, J.; Muller-Myhsok, B.; Riedel, L.; Bauer, M.; Muller, T.; Castro, M.; Meitinger, T.; Strom, T. M.; Gasser, T. : Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nature Genet. 29: 66-69, 2001.
2001
11528394item
1409Zivony-Elboum, Y., Westbroek, W., Kfir, N., Savitzki, D., Shoval, Y., Bloom, A., Rod, R., Khayat, M., Gross, B., Samri, W., Cohen, H., Sonkin, V., Freidman, T., Geiger, D., Fattal-Valevski, A., Anikster, Y., Waters, A. M., Kleta, R., Falik-Zaccai, T. C. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. J. Med. Genet. 49: 462-472, 2012.
2012
22717650item
1410Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ Jr, McCall AE, Huntoon SA, Lulli P, Spadaro M, Litt M, Cann HM, et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet. 1991 Jul;49(1):23-30.
1991
2063871item
1411Zortea, M.; Vettori, A.; Trevisan, C. P.; Bellini, S.; Vazza, G.; Armani, M.; Simonati, A.; Mostacciuolo, M. L. : Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. J. Med. Genet. 39: 387-390, 2002.
2002
12070243item
1412Zou, Y., Zwolanek, D., Izu, Y., Gandhy, S., Schreiber, G., Brockmann, K., Devoto, M., Tian, Z., Hu, Y., Veit, G., Meier, M., Stetefeld, J., Hicks, D., Straub, V., Voermans, N. C., Birk, D. E., Barton, E. R., Koch, M., Bonnemann, C. G. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum. Molec. Genet. 23: 2339-2352, 2014.
2014
24334604item
item
1413Zu L, Figueroa KP, Grewal R, Pulst SM. Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet. 1999 Feb;64(2):594-9.
1999
9973298item
1414Zuchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005 Mar;37(3):289-94. Epub 2005 Jan 30.
2005
15731758item
1415Zuchner, S., De Jonghe, P., Jordanova, A., Claeys, K. G., Guergueltcheva, V., Cherninkova, S., Hamilton, S. R., Van Stavern, G., Krajewski, K. M., Stajich, J., Tournev, I., Verhoeven, K., Langerhorst, C. T., de Visser, M., Baas, F., Bird, T., Timmerman, V., Shy, M., Vance, J. M. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann. Neurol. 59: 276-281, 2006.
2006
16437557item
1416Zuchner, S.; Kail, M. E.; Nance, M. A.; Gaskell, P. C.; Svenson, I. K.; Marchuk, D. A.; Pericak-Vance, M. A.; Ashley-Koch, A. E. : A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. (Letter) Neurogenetics 7: 127-129, 2006(a).
2006
16565863item
1417Zuchner, S.; Mersiyanova, I. V.; Muglia, M.; Bissar-Tadmouri, N.; Rochelle, J.; Dadali, E. L.; Zappia, M.; Nelis, E.; Patitucci, A.; Senderek, J.; Parman, Y.; Evgrafov, O.; and 10 others : Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genet. 36: 449-451, 2004. Note: Corrigendum: Nature Genet. 36: 660 only, 2004.
2004
15064763item
1418Zuchner, S.; Wang, G.; Tran-Viet, K.-N.; Nance, M. A.; Gaskell, P. C.; Vance, J. M.; Ashley-Koch, A. E.; Pericak-Vance, M. A. : Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am. J. Hum. Genet. 79: 365-369, 2006.(b)
2006
16826527item
1419Zuhlke, C.; Hellenbroich, Y.; Dalski, A.; Kononowa, N.; Hagenah, J.; Vieregge, P.; Riess, O.; Klein, C.; Schwinger, E. : Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Europ. J. Hum. Genet. 9: 160-164, 2001.
2001
11313753item