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186 results

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Page 1
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, Rouleau GA. Kahle KT, et al. Among authors: awadalla p. EMBO Rep. 2014 Jul;15(7):766-74. doi: 10.15252/embr.201438840. Epub 2014 Jun 13. EMBO Rep. 2014. PMID: 24928908 Free PMC article.
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.
Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, Dionne-Laporte A, Provencher P, de Carvalho M, Orrù S, Brunet D, Bouchard JP, Awadalla P, Dupré N, Dion PA, Rouleau GA. Leblond CS, et al. Among authors: awadalla p. Neurobiol Aging. 2016 Jan;37:209.e17-209.e21. doi: 10.1016/j.neurobiolaging.2015.09.013. Epub 2015 Sep 28. Neurobiol Aging. 2016. PMID: 26493020
A population genetic approach to mapping neurological disorder genes using deep resequencing.
Myers RA, Casals F, Gauthier J, Hamdan FF, Keebler J, Boyko AR, Bustamante CD, Piton AM, Spiegelman D, Henrion E, Zilversmit M, Hussin J, Quinlan J, Yang Y, Lafrenière RG, Griffing AR, Stone EA, Rouleau GA, Awadalla P. Myers RA, et al. Among authors: awadalla p. PLoS Genet. 2011 Feb;7(2):e1001318. doi: 10.1371/journal.pgen.1001318. Epub 2011 Feb 24. PLoS Genet. 2011. PMID: 21383861 Free PMC article.
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.
Casals F, Hodgkinson A, Hussin J, Idaghdour Y, Bruat V, de Maillard T, Grenier JC, Gbeha E, Hamdan FF, Girard S, Spinella JF, Larivière M, Saillour V, Healy J, Fernández I, Sinnett D, Michaud JL, Rouleau GA, Haddad E, Le Deist F, Awadalla P. Casals F, et al. Among authors: awadalla p. PLoS Genet. 2013;9(9):e1003815. doi: 10.1371/journal.pgen.1003815. Epub 2013 Sep 26. PLoS Genet. 2013. PMID: 24086152 Free PMC article.
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B. Samuels ME, et al. Among authors: awadalla p. J Med Genet. 2013 May;50(5):324-9. doi: 10.1136/jmedgenet-2012-101483. Epub 2013 Feb 19. J Med Genet. 2013. PMID: 23423984 Free PMC article.
186 results