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Page 1
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Krüttgen A, Rudnik-Schöneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J. Stendel C, et al. Among authors: weis j. Am J Hum Genet. 2007 Jul;81(1):158-64. doi: 10.1086/518770. Epub 2007 May 24. Am J Hum Genet. 2007. PMID: 17564972 Free PMC article.
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
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V. Verhoeven K, et al. Among authors: weis j. Brain. 2006 Aug;129(Pt 8):2093-102. doi: 10.1093/brain/awl126. Epub 2006 May 19. Brain. 2006. PMID: 16714318
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.
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Médard JJ, Tricaud N, Kleine H, Luscher B, Weis J, Suter U, Senderek J, Chrast R. Arnaud E, et al. Among authors: weis j. Proc Natl Acad Sci U S A. 2009 Oct 13;106(41):17528-33. doi: 10.1073/pnas.0905523106. Epub 2009 Sep 29. Proc Natl Acad Sci U S A. 2009. PMID: 19805030 Free PMC article.
1,293 results