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Exome sequencing identifies FUS mutations as a cause of essential tremor.
Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Rivière JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupré N, Bernard G, Chouinard S, Dion PA, Rouleau GA. Merner ND, et al. Among authors: riviere jb. Am J Hum Genet. 2012 Aug 10;91(2):313-9. doi: 10.1016/j.ajhg.2012.07.002. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863194 Free PMC article.
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA. Howard HC, et al. Among authors: riviere jb. Nat Genet. 2002 Nov;32(3):384-92. doi: 10.1038/ng1002. Epub 2002 Oct 7. Nat Genet. 2002. PMID: 12368912
Association between 7q31 markers and Tourette syndrome.
Díaz-Anzaldúa A, Joober R, Rivière JB, Dion Y, Lespérance P, Chouinard S, Richer F, Rouleau GA; Montreal Tourette Syndrome Study Group. Díaz-Anzaldúa A, et al. Among authors: riviere jb. Am J Med Genet A. 2004 May 15;127A(1):17-20. doi: 10.1002/ajmg.a.20631. Am J Med Genet A. 2004. PMID: 15103711
The 14q restless legs syndrome locus in the French Canadian population.
Levchenko A, Montplaisir JY, Dubé MP, Riviere JB, St-Onge J, Turecki G, Xiong L, Thibodeau P, Desautels A, Verlaan DJ, Rouleau GA. Levchenko A, et al. Among authors: riviere jb. Ann Neurol. 2004 Jun;55(6):887-91. doi: 10.1002/ana.20140. Ann Neurol. 2004. PMID: 15174026
144 results