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808 results

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Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL. Perrault I, et al. Among authors: rouleau ga. Am J Hum Genet. 2014 Jun 5;94(6):891-7. doi: 10.1016/j.ajhg.2014.04.012. Epub 2014 May 8. Am J Hum Genet. 2014. PMID: 24814191 Free PMC article.
Autosomal dominant juvenile myoclonic epilepsy and GABRA1.
Cossette P, Lortie A, Vanasse M, Saint-Hilaire JM, Rouleau GA. Cossette P, et al. Among authors: rouleau ga. Adv Neurol. 2005;95:255-63. Adv Neurol. 2005. PMID: 15508928 Review. No abstract available.
Characterization of a novel SPG3A deletion in a French-Canadian family.
Meijer IA, Dion P, Laurent S, Dupré N, Brais B, Levert A, Puymirat J, Rioux MF, Sylvain M, Zhu PP, Soderblom C, Stadler J, Blackstone C, Rouleau GA. Meijer IA, et al. Among authors: rouleau ga. Ann Neurol. 2007 Jun;61(6):599-603. doi: 10.1002/ana.21114. Ann Neurol. 2007. PMID: 17427918
Novel de novo SHANK3 mutation in autistic patients.
Gauthier J, Spiegelman D, Piton A, Lafrenière RG, Laurent S, St-Onge J, Lapointe L, Hamdan FF, Cossette P, Mottron L, Fombonne E, Joober R, Marineau C, Drapeau P, Rouleau GA. Gauthier J, et al. Among authors: rouleau ga. Am J Med Genet B Neuropsychiatr Genet. 2009 Apr 5;150B(3):421-4. doi: 10.1002/ajmg.b.30822. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18615476
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L, Champagne N, Lafrenière RG, Hamdan FF; S2D team; Joober R, Fombonne E, Marineau C, Cossette P, Dubé MP, Haghighi P, Drapeau P, Barker PA, Carbonetto S, Rouleau GA. Piton A, et al. Among authors: rouleau ga. Hum Mol Genet. 2008 Dec 15;17(24):3965-74. doi: 10.1093/hmg/ddn300. Epub 2008 Sep 18. Hum Mol Genet. 2008. PMID: 18801879
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, Dobrzeniecka S, Côté M, Perreau-Linck E, Carmant L, D'Anjou G, Fombonne E, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Mouaffak F, Joober R, Mottron L, Drapeau P, Marineau C, Lafrenière RG, Lacaille JC, Rouleau GA, Michaud JL; Synapse to Disease Group. Hamdan FF, et al. Among authors: rouleau ga. N Engl J Med. 2009 Feb 5;360(6):599-605. doi: 10.1056/NEJMoa0805392. N Engl J Med. 2009. PMID: 19196676 Free PMC article.
No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.
Hamdan FF, Gauthier J, Pellerin S, Dobrzeniecka S, Marineau C, Fombonne E, Mottron L, Lafrenière RG, Drapeau P, Lacaille JC, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: rouleau ga. Arch Neurol. 2009 May;66(5):675-6. doi: 10.1001/archneurol.2009.65. Arch Neurol. 2009. PMID: 19433673 No abstract available.
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
Hamdan FF, Piton A, Gauthier J, Lortie A, Dubeau F, Dobrzeniecka S, Spiegelman D, Noreau A, Pellerin S, Côté M, Henrion E, Fombonne E, Mottron L, Marineau C, Drapeau P, Lafrenière RG, Lacaille JC, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: rouleau ga. Ann Neurol. 2009 Jun;65(6):748-53. doi: 10.1002/ana.21625. Ann Neurol. 2009. PMID: 19557857
808 results