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
Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family
Collette K. Hand,Veronique Mayeux-Portas,Jawad Khoris,Valerie Briolotti,Pierre Clavelou,William Camu,Guy A. Rouleau +6 more
TL;DR: A French amyotrophic lateral sclerosis family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene is described and it is proposed that in this family both mutations are required for the development of disease.
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Tourette syndrome and dopaminergic genes: a family-based association study in the French Canadian founder population.
Adriana Díaz-Anzaldúa,Ridha Joober,Jean-Baptiste Rivière,Yves Dion,Paul Lespérance,Francois Richer,Sylvain Chouinard,Guy A. Rouleau +7 more
TL;DR: The notion that DRD4 and MOA-A genes may confer an increased risk for developing TS in the French Canadian population is supported.
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Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
Myriam Srour,David Chitayat,Véronique Caron,Nicolas Chassaing,Pierre Bitoun,Lysanne Patry,Marie-Pierre Cordier,Jose-Mario Capo-Chichi,Christine Francannet,Patrick Calvas,Nicola K. Ragge,Sylvia Dobrzeniecka,Fadi F. Hamdan,Guy A. Rouleau,André Tremblay,Jacques L. Michaud +15 more
TL;DR: It is suggested that both recessive and dominant mutations in RARB cause anophthalmia and/or microphthalmia and diaphragmatic hernia, providing further evidence of the crucial role of the retinoic acid pathway during eye development and organogenesis.
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Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia
Nancy D. Merner,Madison R. Chandler,Cynthia V. Bourassa,Bo Liang,Arjun Khanna,Patrick A. Dion,Guy A. Rouleau,Kristopher T. Kahle +7 more
TL;DR: Exome data from 2517 simplex families in the ASD Simon Simplex Collection revealed significantly more KCC2 CTRD variants in ASD cases than controls, and interestingly, these were more often synonymous and predicted to disrupt or introduce a CpG site.
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Schwannomin isoform-1 interacts with syntenin via PDZ domains.
Mehrdad Jannatipour,Patrick A. Dion,Saad A. Khan,Hitesh K. Jindal,Xueping Fan,Janet Laganière,Athar H. Chishti,Guy A. Rouleau +7 more
TL;DR: Using the yeast two-hybrid system, syntenin is identified as a binding partner for schwannomin isoform-1 (sch-1) and it is showed that the two proteins interact in vitro and in vivo and localized underneath the plasma membrane.