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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Senderek J, et al. Among authors: weis j. Nat Genet. 2005 Dec;37(12):1312-4. doi: 10.1038/ng1678. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282977
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. Senderek J, et al. Among authors: weis j. Am J Hum Genet. 2009 Apr;84(4):511-8. doi: 10.1016/j.ajhg.2009.03.006. Epub 2009 Apr 2. Am J Hum Genet. 2009. PMID: 19344878 Free PMC article.
Incontinetia pigmenti-related myopathy or unsolved "double trouble"?
Huttner HB, Richter G, Jünemann A, Kress W, Weis J, Schröder JM, Gal A, Doerfler A, Udd B, Schröder R. Huttner HB, et al. Among authors: weis j. Neuromuscul Disord. 2010 Feb;20(2):139-41. doi: 10.1016/j.nmd.2009.12.006. Epub 2010 Jan 12. Neuromuscul Disord. 2010. PMID: 20064724
Novel FHL1 mutation in a family with reducing body myopathy.
Schreckenbach T, Henn W, Kress W, Roos A, Maschke M, Feiden W, Dillmann U, Schulz JB, Weis J, Claeys KG. Schreckenbach T, et al. Among authors: weis j. Muscle Nerve. 2013 Jan;47(1):127-34. doi: 10.1002/mus.23500. Epub 2012 Nov 21. Muscle Nerve. 2013. PMID: 23169582
1,294 results