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Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation.
Koss-Harnes D, Høyheim B, Jonkman MF, de Groot WP, de Weerdt CJ, Nikolic B, Wiche G, Gedde-Dahl T Jr. Koss-Harnes D, et al. Among authors: wiche g. Acta Derm Venereol. 2004;84(2):124-31. doi: 10.1080/00015550310007094. Acta Derm Venereol. 2004. PMID: 15206692 Free article.
Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.
McMillan JR, Akiyama M, Rouan F, Mellerio JE, Lane EB, Leigh IM, Owaribe K, Wiche G, Fujii N, Uitto J, Eady RA, Shimizu H. McMillan JR, et al. Among authors: wiche g. Muscle Nerve. 2007 Jan;35(1):24-35. doi: 10.1002/mus.20655. Muscle Nerve. 2007. PMID: 16967486
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
Schröder R, Kunz WS, Rouan F, Pfendner E, Tolksdorf K, Kappes-Horn K, Altenschmidt-Mehring M, Knoblich R, van der Ven PF, Reimann J, Fürst DO, Blümcke I, Vielhaber S, Zillikens D, Eming S, Klockgether T, Uitto J, Wiche G, Rolfs A. Schröder R, et al. Among authors: wiche g. J Neuropathol Exp Neurol. 2002 Jun;61(6):520-30. doi: 10.1093/jnen/61.6.520. J Neuropathol Exp Neurol. 2002. PMID: 12071635
187 results