G
Guy A. Rouleau
Researcher at Montreal Neurological Institute and Hospital
Publications - 935
Citations - 75050
Guy A. Rouleau is an academic researcher from Montreal Neurological Institute and Hospital. The author has contributed to research in topics: Gene & Genome-wide association study. The author has an hindex of 129, co-authored 884 publications receiving 65892 citations. Previous affiliations of Guy A. Rouleau include Utrecht University & University of Helsinki.
Papers
More filters
Journal ArticleDOI
Functional variants of POC5 identified in patients with idiopathic scoliosis
Shunmoogum A. Patten,Patricia Margaritte-Jeannin,Jean-Claude Bernard,Eudeline Alix,Audrey Labalme,Alicia Besson,Simon Girard,Khaled Fendri,Nicolas Fraisse,Bernard Biot,Coline Poizat,Amandine Campan-Fournier,Kariman Abelin-Genevois,Vincent Cunin,Charlotte Zaouter,Meijiang Liao,Raphaelle Lamy,Gaetan Lesca,Rita Menassa,Charles Marcaillou,Melanie Letexier,Damien Sanlaville,Jérôme Berard,Guy A. Rouleau,Françoise Clerget-Darpoux,Pierre Drapeau,Florina Moldovan,Patrick Edery +27 more
TL;DR: Findings indicate that mutations in the POC5 gene contribute to the occurrence of IS, and expression of any of the 3 human IS-associated POC 5 variant mRNAs resulted in spine deformity, without affecting other skeletal structures.
Journal ArticleDOI
MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels
Lan Xiong,Hélène Catoire,Patrick A. Dion,Claudia Gaspar,Ronald G. Lafrenière,Simon Girard,Anastasia Levchenko,Jean Baptiste Rivière,Laura M. Fiori,Judith St-Onge,Isabelle Bachand,Pascale Thibodeau,Richard P. Allen,Christopher J. Earley,Gustavo Turecki,Jacques Montplaisir,Guy A. Rouleau +16 more
TL;DR: Data suggest that reduced expression of the MEIS1 gene, possibly through intronic cis-regulatory element(s), predisposes to RLS.
Journal ArticleDOI
Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia
Sarah L. Sawyer,Jeremy Schwartzentruber,Chandree L. Beaulieu,David A. Dyment,Amanda Smith,Jodi Warman Chardon,Grace Yoon,Guy A. Rouleau,Oksana Suchowersky,Victoria Mok Siu,Lisa Murphy,Robert A. Hegele,Christian R. Marshall,Dennis E. Bulman,Jacek Majewski,Mark A. Tarnopolsky,Kym M. Boycott +16 more
TL;DR: The data suggest that exome sequencing is an effective first line test for pediatric patients with ataxia where a specific single gene is not immediately suspected to be causative.
Journal ArticleDOI
Genetics of familial ALS and consequences for diagnosis
William Camu,Jawad Khoris,Bruno Moulard,François Salachas,Valerie Briolotti,Guy A. Rouleau,Vincent Meininger +6 more
TL;DR: In this paper, the authors have shown that the disease may be multidegenerative, with oculomotor or cerebellar involvement, and the detailed description of the Scandinavian D90A homozygous mutation is very informative in this regard.
Journal ArticleDOI
Sacred disease secrets revealed: the genetics of human epilepsy
Julie Turnbull,Hannes Lohi,Jennifer A. Kearney,Guy A. Rouleau,Antonio V. Delgado-Escueta,Miriam H. Meisler,Patrick Cossette,Berge A. Minassian +7 more
TL;DR: The first epilepsy gene discovered, CHRNA4, was in a focal (frontal lobe)-onset syndrome, and led the way to mutation identifications in 15 ion channel genes, most causing primarily generalized seizures.