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Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B. Bolduc V, et al. Among authors: robitaille y. Am J Hum Genet. 2010 Feb 12;86(2):213-21. doi: 10.1016/j.ajhg.2009.12.013. Epub 2010 Jan 21. Am J Hum Genet. 2010. PMID: 20096397 Free PMC article.
Congenital axonal neuropathy and encephalopathy.
Chau V, Clément JF, Robitaille Y, D'Anjou G, Vanasse M. Chau V, et al. Among authors: robitaille y. Pediatr Neurol. 2008 Apr;38(4):261-6. doi: 10.1016/j.pediatrneurol.2007.11.005. Pediatr Neurol. 2008. PMID: 18358405
204 results