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Items: 6

1.

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.

Stochmanski SJ, Therrien M, Laganière J, Rochefort D, Laurent S, Karemera L, Gaudet R, Vyboh K, Van Meyel DJ, Di Cristo G, Dion PA, Gaspar C, Rouleau GA.

Hum Mol Genet. 2012 May 15;21(10):2211-8. doi: 10.1093/hmg/dds036. Epub 2012 Feb 14.

PMID:
22337953
2.

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Piton A, Gauthier J, Hamdan FF, Lafrenière RG, Yang Y, Henrion E, Laurent S, Noreau A, Thibodeau P, Karemera L, Spiegelman D, Kuku F, Duguay J, Destroismaisons L, Jolivet P, Côté M, Lachapelle K, Diallo O, Raymond A, Marineau C, Champagne N, Xiong L, Gaspar C, Rivière JB, Tarabeux J, Cossette P, Krebs MO, Rapoport JL, Addington A, Delisi LE, Mottron L, Joober R, Fombonne E, Drapeau P, Rouleau GA.

Mol Psychiatry. 2011 Aug;16(8):867-80. doi: 10.1038/mp.2010.54. Epub 2010 May 18.

3.

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

Salin-Cantegrel A, Shekarabi M, Holbert S, Dion P, Rochefort D, Laganière J, Dacal S, Hince P, Karemera L, Gaspar C, Lapointe JY, Rouleau GA.

Hum Mol Genet. 2008 Sep 1;17(17):2703-11. doi: 10.1093/hmg/ddn172. Epub 2008 Jun 19.

PMID:
18566107
4.

Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.

Salin-Cantegrel A, Rivière JB, Dupré N, Charron FM, Shekarabi M, Karéméra L, Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert MM, Willemsen MA, Jarrar R, Lapointe JY, Rouleau GA.

Neurology. 2007 Sep 25;69(13):1350-5.

PMID:
17893295
5.

Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families.

Xiong L, Dion P, Montplaisir J, Levchenko A, Thibodeau P, Karemera L, Rivière JB, St-Onge J, Gaspar C, Dubé MP, Desautels A, Turecki G, Rouleau GA.

Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5;144B(7):911-7.

PMID:
17510944
6.

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population.

Gauthier J, Bonnel A, St-Onge J, Karemera L, Laurent S, Mottron L, Fombonne E, Joober R, Rouleau GA.

Am J Med Genet B Neuropsychiatr Genet. 2005 Jan 5;132B(1):74-5.

PMID:
15389766

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