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
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.
Jose-Mario Capo-Chichi,Sanjay Kumar Bharti,Joshua A. Sommers,Tony Yammine,Eliane Chouery,Lysanne Patry,Guy A. Rouleau,Mark E. Samuels,Fadi F. Hamdan,Jacques L. Michaud,Robert M. Brosh,André Mégarbané,Zoha Kibar +12 more
TL;DR: The finding that the p.R263Q mutation impaired DDX11 helicase activity by perturbing its DNA binding and DNA‐dependent ATP hydrolysis is confirmed and provides novel insight into the structural requirement forDDX11 activity.
Journal ArticleDOI
Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1
Hélène Catoire,Matthieu Y. Pasco,Matthieu Y. Pasco,Matthieu Y. Pasco,Aida Abu-Baker,Sébastien Holbert,Sébastien Holbert,Cendrine Tourette,Cendrine Tourette,Bernard Brais,Guy A. Rouleau,J. Alex Parker,J. Alex Parker,Christian Neri,Christian Neri +14 more
TL;DR: The data identify Sir2 and AMPK inhibition as therapeutic strategies for muscle protection in OPMD, extending the value of druggable proteins in cell maintenance networks to polyalanine diseases.
Journal ArticleDOI
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Ashley P L Marsh,Ashley P L Marsh,Delphine Héron,Timothy J. Edwards,Angélique Quartier,Charles A. Galea,Caroline Nava,Agnès Rastetter,Marie Laure Moutard,Vicki Anderson,Pierre Bitoun,Jens Bunt,Anne Faudet,Catherine Garel,Greta Gillies,Ilan Gobius,Justine Guegan,Solveig Heide,Boris Keren,Fabien Lesne,Vesna Lukic,Simone Mandelstam,Simone Mandelstam,Simone Mandelstam,George McGillivray,Alissandra McIlroy,Aurélie Méneret,Cyril Mignot,Laura Morcom,Sylvie Odent,Annalisa Paolino,Kate Pope,Florence Riant,Gail Robinson,Megan Spencer-Smith,Myriam Srour,Myriam Srour,Sarah E.M. Stephenson,Sarah E.M. Stephenson,Rick M. Tankard,Rick M. Tankard,Oriane Trouillard,Quentin Welniarz,Amanda G. Wood,Alexis Brice,Guy A. Rouleau,Tania Attié-Bitach,Martin B. Delatycki,Martin B. Delatycki,Jean-Louis Mandel,David J. Amor,David J. Amor,Emmanuel Roze,Amélie Piton,Melanie Bahlo,Thierry Billette de Villemeur,Elliott H. Sherr,Richard J. Leventer,Richard J. Leventer,Linda J. Richards,Paul J. Lockhart,Paul J. Lockhart,Christel Depienne +62 more
TL;DR: This work identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum without intellectual disability that result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis.
Journal ArticleDOI
H3K4 tri-methylation in synapsin genes leads to different expression patterns in bipolar disorder and major depression.
TL;DR: It is found that histone modification marks were significantly increased in bipolar disorder and major depression and this effect was correlated with significant increases in gene expression, suggesting that synapsin dysregulation in mood disorders is mediated in part by epigenetic regulatory mechanisms.
Journal ArticleDOI
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations
Philippe Corcia,Paul N. Valdmanis,Stéphanie Millecamps,C. Lionnet,Hélène Blasco,Kevin Mouzat,Hussein Daoud,Veronique V. Belzil,Raul Juntas Morales,Nicolas Pageot,Véronique Danel-Brunaud,Nadia Vandenberghe,Pierre-François Pradat,Philippe Couratier,François Salachas,Serge Lumbroso,Guy A. Rouleau,Vincent Meininger,William Camu +18 more
TL;DR: Differences in phenotype between the groups as well as the differential influence of TARBDP mutations on survival may help physicians in ALS management and allow refining the strategy of genetic diagnosis.