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Page 1
Different early pathogenesis in myotilinopathy compared to primary desminopathy.
Fischer D, Clemen CS, Olivé M, Ferrer I, Goudeau B, Roth U, Badorf P, Wattjes MP, Lutterbey G, Kral T, van der Ven PF, Fürst DO, Vicart P, Goldfarb LG, Moza M, Carpen O, Reichelt J, Schröder R. Fischer D, et al. Among authors: vicart p. Neuromuscul Disord. 2006 Jun;16(6):361-7. doi: 10.1016/j.nmd.2006.03.007. Epub 2006 May 8. Neuromuscul Disord. 2006. PMID: 16684602
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
Schröder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schöneborn S, Zerres K, van der Ven PF, Fürst DO, Kunz WS, Vicart P. Schröder R, et al. Among authors: vicart p. Hum Mol Genet. 2003 Mar 15;12(6):657-69. doi: 10.1093/hmg/ddg060. Hum Mol Genet. 2003. PMID: 12620971
Intermediate filament diseases: desminopathy.
Goldfarb LG, Olivé M, Vicart P, Goebel HH. Goldfarb LG, et al. Among authors: vicart p. Adv Exp Med Biol. 2008;642:131-64. doi: 10.1007/978-0-387-84847-1_11. Adv Exp Med Biol. 2008. PMID: 19181099 Free PMC article.
A novel desmin R355P mutation causes cardiac and skeletal myopathy.
Fidziańska A, Kotowicz J, Sadowska M, Goudeau B, Walczak E, Vicart P, Hausmanowa-Petrusewicz I. Fidziańska A, et al. Among authors: vicart p. Neuromuscul Disord. 2005 Aug;15(8):525-31. doi: 10.1016/j.nmd.2005.05.006. Neuromuscul Disord. 2005. PMID: 16009553
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
Kaminska A, Strelkov SV, Goudeau B, Olivé M, Dagvadorj A, Fidzianska A, Simon-Casteras M, Shatunov A, Dalakas MC, Ferrer I, Kwiecinski H, Vicart P, Goldfarb LG. Kaminska A, et al. Among authors: vicart p. Hum Genet. 2004 Feb;114(3):306-13. doi: 10.1007/s00439-003-1057-7. Epub 2003 Nov 27. Hum Genet. 2004. PMID: 14648196
87 results