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Items: 4

1.

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

Tarabeux J, Kebir O, Gauthier J, Hamdan FF, Xiong L, Piton A, Spiegelman D, Henrion É, Millet B; S2D team, Fathalli F, Joober R, Rapoport JL, DeLisi LE, Fombonne É, Mottron L, Forget-Dubois N, Boivin M, Michaud JL, Drapeau P, Lafrenière RG, Rouleau GA, Krebs MO.

Transl Psychiatry. 2011 Nov 15;1:e55. doi: 10.1038/tp.2011.52.

2.

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

Gauthier J, Champagne N, Lafrenière RG, Xiong L, Spiegelman D, Brustein E, Lapointe M, Peng H, Côté M, Noreau A, Hamdan FF, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Joober R, Fathalli F, Mouaffak F, Haghighi AP, Néri C, Dubé MP, Samuels ME, Marineau C, Stone EA, Awadalla P, Barker PA, Carbonetto S, Drapeau P, Rouleau GA; S2D Team.

Proc Natl Acad Sci U S A. 2010 Apr 27;107(17):7863-8. doi: 10.1073/pnas.0906232107. Epub 2010 Apr 12.

3.

Mutations in FUS cause FALS and SALS in French and French Canadian populations.

Belzil VV, Valdmanis PN, Dion PA, Daoud H, Kabashi E, Noreau A, Gauthier J; S2D team, Hince P, Desjarlais A, Bouchard JP, Lacomblez L, Salachas F, Pradat PF, Camu W, Meininger V, Dupré N, Rouleau GA.

Neurology. 2009 Oct 13;73(15):1176-9. doi: 10.1212/WNL.0b013e3181bbfeef. Epub 2009 Sep 9.

4.

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.

Hum Mol Genet. 2008 Dec 15;17(24):3965-74. doi: 10.1093/hmg/ddn300. Epub 2008 Sep 18.

PMID:
18801879

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