Reference table (All references)



References
Year
PubMed Id
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2001
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2013
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2012
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2015
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1996
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1996
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2012
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2008
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2009
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1999
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1994
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2015
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1988
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1995
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2004
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2008
Schindler, 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
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1959
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2003
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2005
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2005
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2005
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1995
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2015
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2004
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2009
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1997
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1990
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2004
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2005
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2008
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2008
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2011
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2003
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2004
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2005
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2011
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1999
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2013
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1999
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1996
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2016
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2013
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2008
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2015
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2016
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2014
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2002
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2014
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2006
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1999
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2005
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2001
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2007
Stevanin 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
Stevanin, 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
Stevanin, 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
Stevanin, 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
Stevens, 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
Stewart, 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
Stojkovic, 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
Storey, 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
Strauss, 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
Strauss, 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
Straussberg, 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
Street, 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
Street, 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
Sudbrak 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
Sumner, 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
Sung 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
Sung 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
Suomalainen, 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
Swan, 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
Sylvius, 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
Syrris, 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