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
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.
TL;DR: The authors' collection of families with HSP is different on a genetic level from those previously described, with 8 novel mutations and 5 previously reported mutations in 15 affected individuals, and 2 recurring mutations in specific populations, which may facilitate the development of future spastin diagnostic testing in these populations.
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Intellectual disability without epilepsy associated with STXBP1 disruption.
Fadi F. Hamdan,Julie Gauthier,Sylvia Dobrzeniecka,Anne Lortie,Laurent Mottron,Michel Vanasse,Guy D'Anjou,Jean-Claude Lacaille,Guy A. Rouleau,Jacques L. Michaud +9 more
TL;DR: This is the first report of a patient with a truncating mutation in STxBP1 that does not show epilepsy, thus, expanding the clinical spectrum associated with STXBP1 disruption.
Journal Article
Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.
Guy A. Rouleau,Bernd R. Seizinger,Wladimir Wertelecki,Jonathan L. Haines,Duane W. Superneau,Robert L. Martuza,James F. Gusella +6 more
TL;DR: The delineation of flanking markers for NF2 should permit accurate presymptomatic and prenatal diagnosis for the disorder and greatly facilitate efforts to isolate the defective gene on the basis of its location.
Journal ArticleDOI
ATXN2 trinucleotide repeat length correlates with risk of ALS
William Sproviero,Aleksey Shatunov,Daniel Stahl,Maryam Shoai,Wouter van Rheenen,Ashley R. Jones,Safa Al-Sarraj,Peter M. Andersen,Nancy M. Bonini,Francesca Luisa Conforti,Philip Van Damme,Hussein Daoud,Maria del Mar Amador,Isabella Fogh,Monica Forzan,Ben Gaastra,Cinzia Gellera,Aaron D. Gitler,John Hardy,Pietro Fratta,Vincenzo La Bella,Isabelle Le Ber,Tim Van Langenhove,Serena Lattante,Yi-Chung Lee,Andrea Malaspina,Vincent Meininger,Stéphanie Millecamps,Richard W. Orrell,Rosa Rademakers,Wim Robberecht,Guy A. Rouleau,Owen A. Ross,François Salachas,Katie Sidle,Bradley N. Smith,Bing-Wen Soong,Gianni Sorarù,Giovanni Stevanin,Edor Kabashi,Claire Troakes,Christine Van Broeckhoven,Jan H. Veldink,Leonard H. van den Berg,Christopher Shaw,John Powell,Ammar Al-Chalabi +46 more
TL;DR: Intermediate ATXN2 trinucleotide repeat expansion in ALS does not predict age of onset but does predict disease risk, and a meta-analysis of the new and existing studies for the relative risks of ATXn2 intermediate repeat alleles found that there was an overall increased risk of ALS.
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Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?
Ansgar Felbecker,William Camu,Paul N. Valdmanis,Anne-Dorte Sperfeld,Stefan Waibel,Peter Steinbach,Guy A. Rouleau,Albert C. Ludolph,Peter M. Andersen +8 more
TL;DR: The authors find that the D90A and E100K SOD1 gene mutations found in some patients are not the exclusive cause of ALS in these pedigrees, and may be part of an oligo- or epigentic pattern of inheritance.