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Association of intronic variants of the BTBD9 gene with Tourette syndrome.
Rivière JB, Xiong L, Levchenko A, St-Onge J, Gaspar C, Dion Y, Lespérance P, Tellier G, Richer F, Chouinard S, Rouleau GA; Montreal Tourette Study Group. Rivière JB, et al. Arch Neurol. 2009 Oct;66(10):1267-72. doi: 10.1001/archneurol.2009.213. Arch Neurol. 2009. PMID: 19822783
Genome-wide TDT analysis in French-Canadian families with Tourette syndrome.
Rivière JB, St-Onge J, Gaspar C, Diab S, Dion Y, Lespérance P, Tellier G, Richer F, Chouinard S, Dubé MP, Rouleau GA; Montreal Tourette Study Group. Rivière JB, et al. Can J Neurol Sci. 2010 Jan;37(1):110-2. doi: 10.1017/s0317167100009744. Can J Neurol Sci. 2010. PMID: 20169783 No abstract available.
Mutations in DCC cause congenital mirror movements.
Srour M, Rivière JB, Pham JM, Dubé MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Théoret H, Charron F, Rouleau GA. Srour M, et al. Science. 2010 Apr 30;328(5978):592. doi: 10.1126/science.1186463. Science. 2010. PMID: 20431009
DOK7 mutations presenting as a proximal myopathy in French Canadians.
Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, Poulin C, Mathieu J, Bouchard JP, Brais B. Srour M, et al. Neuromuscul Disord. 2010 Jul;20(7):453-7. doi: 10.1016/j.nmd.2010.05.007. Epub 2010 Jun 17. Neuromuscul Disord. 2010. PMID: 20610155
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O; S2D Group; Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafrenière RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: srour m. Am J Hum Genet. 2011 Mar 11;88(3):306-16. doi: 10.1016/j.ajhg.2011.02.001. Epub 2011 Mar 3. Am J Hum Genet. 2011. PMID: 21376300 Free PMC article.
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA. Rivière JB, et al. Among authors: srour m. Am J Hum Genet. 2011 Aug 12;89(2):219-30. doi: 10.1016/j.ajhg.2011.06.013. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820098 Free PMC article.
260 results