Reference table (All references)



References
Year
PubMed Id
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2006
Gabellini, 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
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1996
Galmiche 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
Gan-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
Gatti, 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
Gedeon, 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
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2008
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1993
Georgiou, 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
Gerull, 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
Gerull, 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
Gess 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
Ghezzi, 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
Gillard 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
Gillard 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
Gilliam 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
Gispert 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
Giunta 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
Giusti, 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
Godfrey 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
Godfrey, 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
Goizet, 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
Goldfarb 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
Gollob, 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
Gomez 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
Gomez, 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
Gommans, 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
Gonzaga-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
Gonzalez 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
Gonzalez, 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
Gopinath 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
Gotoda 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
Gotz, 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
Gouw 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
Green 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
Greenberg, 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
Greenway 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
Griggs 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
Groenewegen 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
Grohmann 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
Gros-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
Gros-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
Gualandi 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
Gudbjartsson, 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
Gudbjartsson, 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
Guelly, 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
Gueneau 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
Guernsey, 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
Guiloff 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
Gundesli, 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
Gupta, 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