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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: codere f. Nat Genet. 1998 Feb;18(2):164-7. doi: 10.1038/ng0298-164. Nat Genet. 1998. PMID: 9462747
Oculopharyngeal muscular dystrophy: What's new?
Codère F, Brais B, Rouleau G, Lafontaine E. Codère F, et al. Orbit. 2001 Dec;20(4):259-266. doi: 10.1076/orbi.20.4.259.2617. Orbit. 2001. PMID: 12045902
PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions.
Corbeil-Girard LP, Klein AF, Sasseville AM, Lavoie H, Dicaire MJ, Saint-Denis A, Pagé M, Duranceau A, Codère F, Bouchard JP, Karpati G, Rouleau GA, Massie B, Langelier Y, Brais B. Corbeil-Girard LP, et al. Among authors: codere f. Neurobiol Dis. 2005 Apr;18(3):551-67. doi: 10.1016/j.nbd.2004.10.019. Neurobiol Dis. 2005. PMID: 15755682
Oculopharyngeal muscular dystrophy.
Codère F. Codère F. Can J Ophthalmol. 1993 Feb;28(1):1-2. Can J Ophthalmol. 1993. PMID: 8439856 English, French. No abstract available.
66 results