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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: lafreniere rg. Nat Genet. 1998 Feb;18(2):164-7. doi: 10.1038/ng0298-164. Nat Genet. 1998. PMID: 9462747
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
Lafrenière RG, Rochefort DL, Chrétien N, Rommens JM, Cochius JI, Kälviäinen R, Nousiainen U, Patry G, Farrell K, Söderfeldt B, Federico A, Hale BR, Cossio OH, Sørensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA. Lafrenière RG, et al. Nat Genet. 1997 Mar;15(3):298-302. doi: 10.1038/ng0397-298. Nat Genet. 1997. PMID: 9054946
Analysis of 14 CAG repeat-containing genes in schizophrenia.
Joober R, Benkelfat C, Toulouse A, Lafrenière RG, Lal S, Ajroud S, Turecki G, Bloom D, Labelle A, Lalonde P, Alda M, Morgan K, Palmour R, Rouleau GA. Joober R, et al. Among authors: lafreniere rg. Am J Med Genet. 1999 Dec 15;88(6):694-9. Am J Med Genet. 1999. PMID: 10581491
Migraine: Role of the TRESK two-pore potassium channel.
Lafrenière RG, Rouleau GA. Lafrenière RG, et al. Int J Biochem Cell Biol. 2011 Nov;43(11):1533-6. doi: 10.1016/j.biocel.2011.08.002. Epub 2011 Aug 9. Int J Biochem Cell Biol. 2011. PMID: 21855646 Review.
105 results