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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Journal ArticleDOI
Association study of the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia
Sarojini M. Sengupta,Lan Xiong,Ferid Fathalli,Chawki Benkelfat,Karim Tabbane,Zoltan Danics,Alain Labelle,Samarthji Lal,Marie-Odile Krebs,Guy A. Rouleau,Ridha Joober +10 more
TL;DR: Results from the family-based and case-control association study suggest that there is no association between the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia.
Journal ArticleDOI
ISDN2014_0400: Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness
Fadi F. Hamdan,Isabelle Perrault,Isabelle Perrault,Marlène Rio,Jose-Mario Capo-Chichi,Nathalie Boddaert,Jean-Claude Décarie,Bruno Maranda,Rima Nabbout,Michel Sylvain,Anne Lortie,Philippe P. Roux,Elsa Rossignol,Xavier Gérard,Xavier Gérard,Giulia Barcia,Patrick Berquin,Arnold Munnich,Guy A. Rouleau,Josseline Kaplan,Josseline Kaplan,Jean-Michel Rozet,Jean-Michel Rozet,Jacques L. Michaud +23 more
TL;DR: This research presents a novel and exciting opportunity to explore the role of phosphorous in the natural selection process and the role that phosphorous plays in the development of Alzheimer's disease.
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Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene
TL;DR: A family with a pure form of HSP due to a de novo transition mutation in the NIPA1 gene is reported, strengthening the assumption that this is a pathogenic mutation and emphasizing the need to consider autosomal dominant HSP even in the absence of family history.
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KCC3 axonopathy: neuropathological features in the central and peripheral nervous system
Roland N. Auer,Janet L Laganière,Yves Robitaille,John Richardson,Patrick A. Dion,Guy A. Rouleau,Masoud Shekarabi +6 more
TL;DR: It is concluded that the neurodegenerative deficits in HMSN/ACC are primarily caused by an axonopathy superimposed upon abnormal development, affecting peripheral but also central nervous system axons, all ultimately because of a genetic defect in the axonal cotransporter KCC3.
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The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1).
Wendy J. Carson,João Radvany,Lindsay A. Farrer,Dominique Vincent,Roger N. Rosenberg,Patrick MacLeod,Guy A. Rouleau +6 more
TL;DR: Testing MJD families for linkage to six DNA sequence polymorphisms located on chromosome 6p, including the highly informative dinucleotide repeat, D6S89, provides conclusive evidence that MJD and SCA1 are nonallelic.