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Oculopharyngeal muscular dystrophy.
Brais B, Rouleau GA, Bouchard JP, Fardeau M, Tomé FM. Brais B, et al. Among authors: bouchard jp. Semin Neurol. 1999;19(1):59-66. doi: 10.1055/s-2008-1040826. Semin Neurol. 1999. PMID: 10711989 Review.
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. Among authors: bouchard jp. Nat Genet. 1998 Feb;18(2):164-7. doi: 10.1038/ng0298-164. Nat Genet. 1998. PMID: 9462747
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, Melançon SB. Bouchard JP, et al. Neuromuscul Disord. 1998 Oct;8(7):474-9. doi: 10.1016/s0960-8966(98)00055-8. Neuromuscul Disord. 1998. PMID: 9829277
280 results