Reference table (All references)



References
Year
PubMed Id
Abaji M, Mignon-Ravix C, Gorokhova S, Cacciagli P, Mortreux J, Molinari F, Chabrol B, Sigaudy S, Villard L, Riccardi F. TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype. J Med Genet. 2023 Oct;60(10):1021-1025. doi: 10.1136/jmg-2022-108677. Epub 2023 Feb 27. PMID: 36849228.
2023
Abalkhail, 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
Abath Neto O, Heise CO, Moreno CA, Estephan EP, Mesrob L, Lechner D, Boland A, Deleuze JF, Oliveira AS, Reed UC, Biancalana V, Laporte J, Zanoteli E. Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. Can J Neurol Sci. 2017 Jan;44(1):125-127. doi: 10.1017/cjn.2016.322. Epub 2016 Oct 17. PMID: 27748205
2016
Abath Neto OL, Medne L, Donkervoort S, et al. MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline high serum creatine kinase. Brain 2021 Sep 28:awab275. doi: 10.1093/brain/awab275
2021
Abati 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
Abbott 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
Abbott, 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
Abel, 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
Abou 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
Abou 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
Abou 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
Adelman, 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
Agolini 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
Agrawal 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
Agrawal 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
Agrawal, P. B., Strickland, C. D., Midgett, C., Morales, A., Newburger, D. E., Poulos, M. A., Tomczak, K. K., Ryan, M. M., Iannaccone, S. T., Crawford, T. O., Laing, N. G., Beggs, A. H. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann. Neurol. 56: 86-96, 2004. [PubMed: 15236405, related citations]
2004
Ahlberg, 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
Ahmad 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
Ahmed, M. Y., Al-Khayat, A., Al-Murshedi, F., Al-Futaisi, A., Chioza, B. A., Fernandez-Murray, J. P., Self, J. E., Salter, C. G., Harlalka, G. V., Rawlins, L. E., Al-Zuhaibi, S., Al-Azri, F., and 10 others. A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain 140: 547-554, 2017. [PubMed: 28052917,
2017
Ahrens-Nicklas, R. C., Pappas, C. T., Farman, G. P., Mayfield, R. M., Larrinaga, T. M., Medne, L., Ritter, A., Krantz, I. D., Murali, C., Lin, K. Y., Berger, J. H., Yum, S. W., Carreon, C. K., Gregorio, C. C. Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: a novel mechanism of neonatal dilated cardiomyopathy. Sci. Adv. 5: eaax2066, 2019
2019
Ajroud-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
Akawi, 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
Al-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
Al-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
Al-Saif, A., Bohlega, S., Al-Mohanna, F. Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. Ann. Neurol. 72: 510-516, 2012.
2012
Al-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
Al-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
Al-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
Alazami, 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
Albulym, 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
Alkhunaizi 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
Allamand 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
Almomani, 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
Alston, 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
Amati-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
Andersen, 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
Angelini 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
Anheim 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
Anheim, 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
Antonellis 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
Antonicka, 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
Anttonen 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
Antzelevitch 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
Aoyama, 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
Aoyama, 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
Ardicli 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
Arimura 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
Arimura, 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
Arndt, 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
Asimaki 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
Aslanidis, 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
Aspit, L., Levitas, A., Etzion, S., Krymko, H., Slanovic, L., Zarivach, R., Etzion, Y., Parvari, R. CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy. J. Med. Genet. 56: 228-235, 2019.[PubMed: 30518548]
2019
Assoum, 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
Atkinson 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
Attali 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
Auburger 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
Auer-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
Auer-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
Auer-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
Awad, 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
Azibi 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
Azzedine 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
Azzedine, 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