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87 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: lortie a. 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: lortie a. Adv Neurol. 2005;95:255-63. Adv Neurol. 2005. PMID: 15508928 Review. No abstract available.
Recurrent pancreatitis in mitochondrial cytopathy.
Debray FG, Drouin E, Herzog D, Lortie A, Lambert M, Garel L, Mitchell GA, Michaud JL. Debray FG, et al. Among authors: lortie a. Am J Med Genet A. 2006 Nov 1;140(21):2330-5. doi: 10.1002/ajmg.a.31457. Am J Med Genet A. 2006. PMID: 17022070 Review.
Vagus nerve stimulation in pediatric epileptic syndromes.
Rossignol E, Lortie A, Thomas T, Bouthiller A, Scavarda D, Mercier C, Carmant L. Rossignol E, et al. Among authors: lortie a. Seizure. 2009 Jan;18(1):34-7. doi: 10.1016/j.seizure.2008.06.010. Epub 2008 Jul 25. Seizure. 2009. PMID: 18657451 Free article. Clinical Trial.
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: lortie a. Ann Neurol. 2009 Jun;65(6):748-53. doi: 10.1002/ana.21625. Ann Neurol. 2009. PMID: 19557857
Intellectual disability without epilepsy associated with STXBP1 disruption.
Hamdan FF, Gauthier J, Dobrzeniecka S, Lortie A, Mottron L, Vanasse M, D'Anjou G, Lacaille JC, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: lortie a. Eur J Hum Genet. 2011 May;19(5):607-9. doi: 10.1038/ejhg.2010.183. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364700 Free PMC article.
The genetic landscape of infantile spasms.
Michaud JL, Lachance M, Hamdan FF, Carmant L, Lortie A, Diadori P, Major P, Meijer IA, Lemyre E, Cossette P, Mefford HC, Rouleau GA, Rossignol E. Michaud JL, et al. Among authors: lortie a. Hum Mol Genet. 2014 Sep 15;23(18):4846-58. doi: 10.1093/hmg/ddu199. Epub 2014 Apr 29. Hum Mol Genet. 2014. PMID: 24781210
87 results