Gravel M - Search Results

1

Rare coding variants in genes encoding GABA_A receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortiu… See abstract for full author list ➔ May P, et al. Among authors: gravel m. Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17. Lancet Neurol. 2018. PMID: 30033060 Free article.

2

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy.

Kinirons P, Rabinowitz D, Gravel M, Long J, Winawer M, Sénéchal G, Ottman R, Cossette P. Kinirons P, et al. Among authors: gravel m. Epilepsy Res. 2008 Nov;82(1):21-28. doi: 10.1016/j.eplepsyres.2008.06.011. Epub 2008 Aug 23. Epilepsy Res. 2008. PMID: 18723325 Free PMC article.

3

Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy.

Lachance-Touchette P, Martin C, Poulin C, Gravel M, Carmant L, Cossette P. Lachance-Touchette P, et al. Among authors: gravel m. Epilepsia. 2010 Sep;51(9):1894-7. doi: 10.1111/j.1528-1167.2010.02642.x. Epilepsia. 2010. PMID: 20550555 Free article.

4

A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.

Martin C, Meloche C, Rioux MF, Nguyen DK, Carmant L, Andermann E, Gravel M, Cossette P. Martin C, et al. Among authors: gravel m. Clin Genet. 2014 Dec;86(6):570-4. doi: 10.1111/cge.12311. Epub 2013 Nov 27. Clin Genet. 2014. PMID: 24283814

5

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P. Cadieux-Dion M, et al. Among authors: gravel m. JAMA Neurol. 2014 Apr;71(4):470-5. doi: 10.1001/jamaneurol.2013.6337. JAMA Neurol. 2014. PMID: 24566826

6

Retrospective analysis of phone queries to an epilepsy clinic hotline.

Laforme A, Jubinville S, Gravel M, Cossette P, Nguyen DK. Laforme A, et al. Among authors: gravel m. Can J Neurosci Nurs. 2014;36(3):41-5. Can J Neurosci Nurs. 2014. PMID: 25638916

7

Global characterization of copy number variants in epilepsy patients from whole genome sequencing.

Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, Gravel M, Spiegelman D, Dionne-Laporte A, Boelman C, Hamdan FF, Michaud JL, Rouleau G, Minassian BA, Bourque G, Cossette P. Monlong J, et al. Among authors: gravel m. PLoS Genet. 2018 Apr 12;14(4):e1007285. doi: 10.1371/journal.pgen.1007285. eCollection 2018 Apr. PLoS Genet. 2018. PMID: 29649218 Free PMC article.

8

Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.

Koko M, Motelow JE, Stanley KE, Bobbili DR, Dhindsa RS, May P; Canadian Epilepsy Network; Epi4K Consortium; Epilepsy Phenome/Genome Project; EpiPGX Consortium; EuroEPINOMICS-CoGIE Consortium. Koko M, et al. Epilepsia. 2022 Mar;63(3):723-735. doi: 10.1111/epi.17166. Epub 2022 Jan 15. Epilepsia. 2022. PMID: 35032048 Free PMC article.

9

X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.

Nguyen DK, Rouleau I, Sénéchal G, Ansaldo AI, Gravel M, Benfenati F, Cossette P. Nguyen DK, et al. Among authors: gravel m. Epilepsia. 2015 Jul;56(7):1098-108. doi: 10.1111/epi.13042. Epub 2015 Jun 19. Epilepsia. 2015. PMID: 26096837 Free article.

10

TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia.

Paradis C, Cadieux-Dion M, Meloche C, Gravel M, Paradis J, Des Roches A, Leclerc G, Cossette P, Begin P. Paradis C, et al. Among authors: gravel m. J Clin Immunol. 2019 Jan;39(1):118-125. doi: 10.1007/s10875-018-0584-x. Epub 2019 Jan 26. J Clin Immunol. 2019. PMID: 30685859

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