Rouleau GA - Search Results

1

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.

2

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA. Cossette P, et al. Among authors: rouleau ga. Nat Genet. 2002 Jun;31(2):184-9. doi: 10.1038/ng885. Epub 2002 May 6. Nat Genet. 2002. PMID: 11992121

3

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).

Cossette P, Loukas A, Lafrenière RG, Rochefort D, Harvey-Girard E, Ragsdale DS, Dunn RJ, Rouleau GA. Cossette P, et al. Among authors: rouleau ga. Epilepsy Res. 2003 Feb;53(1-2):107-17. doi: 10.1016/s0920-1211(02)00259-0. Epilepsy Res. 2003. PMID: 12576172

4

Mutation screening of FOXP2 in individuals diagnosed with autistic disorder.

Gauthier J, Joober R, Mottron L, Laurent S, Fuchs M, De Kimpe V, Rouleau GA. Gauthier J, et al. Among authors: rouleau ga. Am J Med Genet A. 2003 Apr 15;118A(2):172-5. doi: 10.1002/ajmg.a.10105. Am J Med Genet A. 2003. PMID: 12655497

5

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia.

Toulouse A, Rochefort D, Roussel J, Joober R, Rouleau GA. Toulouse A, et al. Among authors: rouleau ga. Genomics. 2003 Aug;82(2):162-71. doi: 10.1016/s0888-7543(03)00101-0. Genomics. 2003. PMID: 12837267

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. Gauthier J, et al. Among authors: rouleau ga. Am J Med Genet B Neuropsychiatr Genet. 2005 Jan 5;132B(1):74-5. doi: 10.1002/ajmg.b.30066. Am J Med Genet B Neuropsychiatr Genet. 2005. PMID: 15389766

7

A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.

Rivière JB, Verlaan DJ, Shekarabi M, Lafrenière RG, Bénard M, Der Kaloustian VM, Shbaklo Z, Rouleau GA. Rivière JB, et al. Among authors: rouleau ga. Ann Neurol. 2004 Oct;56(4):572-5. doi: 10.1002/ana.20237. Ann Neurol. 2004. PMID: 15455397

8

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA. Kabashi E, et al. Among authors: rouleau ga. Nat Genet. 2008 May;40(5):572-4. doi: 10.1038/ng.132. Epub 2008 Mar 30. Nat Genet. 2008. PMID: 18372902

9

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.

Shekarabi M, Girard N, Rivière JB, Dion P, Houle M, Toulouse A, Lafrenière RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M, Rouleau GA. Shekarabi M, et al. Among authors: rouleau ga. J Clin Invest. 2008 Jul;118(7):2496-505. doi: 10.1172/JCI34088. J Clin Invest. 2008. PMID: 18521183 Free PMC article.

10

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.

Gros-Louis F, Kriz J, Kabashi E, McDearmid J, Millecamps S, Urushitani M, Lin L, Dion P, Zhu Q, Drapeau P, Julien JP, Rouleau GA. Gros-Louis F, et al. Among authors: rouleau ga. Hum Mol Genet. 2008 Sep 1;17(17):2691-702. doi: 10.1093/hmg/ddn171. Epub 2008 Jun 16. Hum Mol Genet. 2008. PMID: 18558633

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

818 results

Search Page

Filters