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.
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Proceedings Article
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
Isabel Silveira,Iscia Lopes-Cendes,Stephen J. Kish,Patrícia Maciel,Patrícia Maciel,Claudia Gaspar,Claudia Gaspar,Paula Coutinho,M. I. Botez,Helio Ghizoni Teive,Walter Oleschko Arruda,Carlos Eduardo Steiner,Walter Pinto-Junior,Jaime A. Maciel Jr,Satish Jain,G. Sack,Eva Andermann,Lewis Sudarsky,Roger N. Rosenberg,Patrick MacLeod,David Chitayat,Riyana Babul,Jorge Sequeiros,Guy A. Rouleau +23 more
TL;DR: In this article, the frequency of the SCA1 mutation was 3% in the overall patient group and 10% in non-Portuguese dominantly inherited SCA subgroup.
Journal ArticleDOI
Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II
Masoud Shekarabi,Nathalie Girard,Jean-Baptiste Rivière,Patrick A. Dion,Martin Houle,André Toulouse,Ronald G. Lafrenière,Freya Vercauteren,Pascale Hince,Janet Laganière,Daniel Rochefort,Laurence Faivre,Mark E. Samuels,Guy A. Rouleau +13 more
TL;DR: The characteristics of WNK1/HSN2 point to a possible role for this gene in the peripheral sensory perception deficits characterizing HSANII, and it is demonstrated that the novel protein product of Wnk1/Hsn2 was more abundant in sensory neurons than motor neurons.
Journal ArticleDOI
Somatosensory-motor bodily representation cortical thinning in Tourette: effects of tic severity, age and gender.
Cherine Fahim,Uicheul Yoon,Uicheul Yoon,Samir Das,Oliver C. Lyttelton,Oliver C. Lyttelton,John C. Chen,John C. Chen,Rozie Arnaoutelis,Guy A. Rouleau,Paul Sandor,Paul Sandor,Kirk A. Frey,Catherine Brandner,Alan C. Evans,Alan C. Evans +15 more
TL;DR: TS revealed important thinning in brain regions particularly involved in the somatosensory/motor bodily representations which may play an important role in tics, in agreement with Leckman et al. (1991) hypothesis.
Journal ArticleDOI
An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred.
François Gros-Louis,Inge A. Meijer,Collette K. Hand,Marie-Pierre Dubé,Daune MacGregor,Marie-Helene Seni,Rebecca S. Devon,Michael R. Hayden,Frederick Andermann,Eva Andermann,Eva Andermann,Guy A. Rouleau +11 more
TL;DR: The results show that absence of a functional VPS9 domain of alsin is sufficient to cause neurodegeneration, and the yeast V PS9 protein and its mammalian homolog RABEX-5 are guanine nucleotide exchange factors for specific proteins thought to be involved in vacuolar endocytic transport.
Journal ArticleDOI
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
Isabel Silveira,Iscia Lopes-Cendes,Stephen J. Kish,Patrícia Maciel,Patrícia Maciel,Claudia Gaspar,Claudia Gaspar,Paula Coutinho,M. I. Botez,Helio Ghizoni Teive,Walter Oleschko Arruda,Carlos Eduardo Steiner,Walter Pinto-Junior,Jaime A. Maciel Jr,Satish Jain,G. Sack,Eva Andermann,Lewis Sudarsky,Roger N. Rosenberg,Patrick MacLeod,David Chitayat,Riyana Babul,Jorge Sequeiros,Guy A. Rouleau +23 more
TL;DR: The results suggest that SCA may be occasionally caused by the SCA1 mutation and rarely cause by the DRPLA mutation and that, to date, the MJD mutation seems to be the most common cause of dominantly inherited SCA.