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Recent studies on oculopharyngeal muscular dystrophy in Québec.
Bouchard JP, Brais B, Brunet D, Gould PV, Rouleau GA. Bouchard JP, et al. Among authors: brais b. Neuromuscul Disord. 1997 Oct;7 Suppl 1:S22-9. doi: 10.1016/s0960-8966(97)00077-1. Neuromuscul Disord. 1997. PMID: 9392011
Twenty-one families have taken part in the study, which led to our localization of the gene in 1995 [Brais B, Xie Y-G, Sanson M, et al. Hum Mol Genet 1995; 4:429-434]. At least one case in each family underwent muscle biopsy to confirm the presence of the typical nu …
Twenty-one families have taken part in the study, which led to our localization of the gene in 1995 [Brais B, Xie Y-G, Sanson …
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.
Brais B, Bouchard JP, Xie YG, Rochefort DL, Chrétien N, Tomé FM, Lafrenière RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codère F, Fardeau M, Rouleau GA. Brais B, et al. Nat Genet. 1998 Feb;18(2):164-7. doi: 10.1038/ng0298-164. Nat Genet. 1998. PMID: 9462747
229 results