Reference table (All references)



References
Year
PubMed Id
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2006
Dafsari 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
Dalski, 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
Danhauser, 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
Daoud, 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
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2001
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1998
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2016
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2001
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2001
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2010
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1999
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1999
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1996
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2009
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2009
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2021
DeJesus-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
Delague 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
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2007
Delague, 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
Delatycki, 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
Delplanque, 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
Delpon, 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
Delpon, E., Cordeiro, J. M., Nunez, L., Thomsen, P. E. B., Guerchicoff, A., Pollevick, G. D., Wu, Y., Kanters, J. K., Larsen, C. T., Hofman-Bang, J., Burashnikov, E., Christiansen, M., Antzelevitch, C. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ. Arrhythm. Electrophysiol. 1: 209-218, 2008. Note: Erratum: Circ. Arrhythm. Electrophysiol. 1: e2, 2008. [PubMed: 19122847
2008
Demir, 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
Deng, 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
Deng, 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
Deng, 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
Depondt, 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
Depondt, 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
Deschauer, 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
Deschauer, 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
Devalla, 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
Dhandapany, 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
Di 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
Di 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
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2014
Di 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
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2017
Di 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
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2008
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1983
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1973
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2022
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1999
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2011
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2021
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1998
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2021
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2019
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2002
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2014
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2000
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2016
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2012
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2009
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2008
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2004
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2011
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1995
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2016
Dursun 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
Dutta 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