Reference table (All references)



References
Year
PubMed Id
Ebers 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
Echaniz-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
Edvardson S., Cinnamon Y., Jalas C., et al. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol 2012;71:569–72.
2012
Edvardson, 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
Edwards 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
Eidhof, 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
Einarsdottir, 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
Eisenberg 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
Elbaz 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
Elden, 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
Elleuch 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
Ellinor, 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
Elpeleg 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
Elsaid, M. F., Chalhoub, N., Ben-Omran, T., Kumar, P., Kamel, H., Ibrahim, K., Mohamoud, Y., Al-Dous, E., Al-Azwani, I., Malek, J. A., Suhre, K., Ross, M. E., Aleem, A. A. Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. Ann. Neurol. 81: 68-78, 2017. [PubMed: 27863452
2017
Endo, 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
Engel 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
Engel 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
Engel 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
Engert 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
Engert, 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
Engle 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
Erlich 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
Escayg, 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
Estan 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
Esteves, 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
Evgrafov, 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
Eymard-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