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
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Ana I. Seixas,Joana R. Loureiro,Cristina Costa,Andrés Ordóñez-Ugalde,Hugo Marcelino,Claudia L. Oliveira,José Leal Loureiro,Ashutosh Dhingra,Eva Brandão,Vítor Tedim Cruz,Angela Timóteo,Beatriz Quintáns,Guy A. Rouleau,Patrizia Rizzu,Angel Carracedo,José Bessa,Peter Heutink,Jorge Sequeiros,María Jesús Sobrido,Paula Coutinho,Isabel Silveira +20 more
TL;DR: Together, these results establish an unstable repeat insertion in DAB1 as a cause of cerebellar degeneration and propose this mutation as the molecular basis for SCA37.2.
Journal ArticleDOI
Voltage-Gated Na+ Channel β1B: A Secreted Cell Adhesion Molecule Involved in Human Epilepsy
Gustavo Patino,William J. Brackenbury,Yangyang Bao,Luis F. Lopez-Santiago,Heather A. O'Malley,Chunling Chen,Jeffrey D. Calhoun,Ron G. Lafreniere,Patrick Cossette,Guy A. Rouleau,Lori L. Isom +10 more
TL;DR: The structure and function of β1B are studied and a novel human SCN1B epilepsy-related mutation (p.G257R) unique to β1 B is investigated, which is proposed to contribute to epilepsy through a mechanism that includes intracellular retention resulting in aberrant neuronal pathfinding.
Journal ArticleDOI
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia
Ziv Gan-Or,Ziv Gan-Or,Naima Bouslam,Nazha Birouk,Alexandra Lissouba,Daniel B. Chambers,Julie Vérièpe,Alaura Androschuk,Sandra B. Laurent,Sandra B. Laurent,Daniel Rochefort,Daniel Rochefort,Dan Spiegelman,Dan Spiegelman,Alexandre Dionne-Laporte,Alexandre Dionne-Laporte,Anna Szuto,Meijiang Liao,Denise A. Figlewicz,Ahmed Bouhouche,Ali Benomar,Mohamed Yahyaoui,Reda Ouazzani,Grace Yoon,Nicolas Dupré,Oksana Suchowersky,Francois V. Bolduc,J. Alex Parker,Patrick A. Dion,Patrick A. Dion,Pierre Drapeau,Guy A. Rouleau,Guy A. Rouleau,Bouchra Ouled Amar Bencheikh,Bouchra Ouled Amar Bencheikh +34 more
TL;DR: Rare homozygous and compound-heterozygous nonsense, missense, frameshift, and splice-site mutations in CAPN1 were identified in all affected individuals, and sequencing in additional family members confirmed the segregation of these mutations with the disease (spastic paraplegia 76).
Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis
Barbara Schormair,Chen Zhao,Steven Bell,Erik Tilch,Aaro V. Salminen,Benno Puetz,Yves Dauvilliers,Ambra Stefani,Birgit Hoegl,Werner Poewe,David Kemlink,Karel Sonka,Cornelius G. Bachmann,Walter Paulus,Claudia Trenkwalder,Wolfgang H. Oertel,Magdolna Hornyak,Maris Teder-Laving,Andres Metspalu,Georgios M. Hadjigeorgiou,Olli Polo,Ingo Fietze,Owen A. Ross,Zbigniew K. Wszolek,Adam S. Butterworth,Nicole Soranzo,Willem H. Ouwehand,David J. Roberts,John Danesh,Richard P. Allen,Christopher J. Earley,William G. Ondo,Lan Xiong,Jacques Montplaisir,Ziv Gan-Or,Markus Perola,Pavel Vodicka,Christian Dina,Andre Franke,Lukas Tittmann,Alexandre F.R. Stewart,Svati H. Shah,Christian Gieger,Annette Peters,Guy A. Rouleau,Klaus Berger,Konrad Oexle,Emanuele Di Angelantonio,David A. Hinds,Bertram Mueller-Myhsok,Juliane Winkelmann +50 more
Journal ArticleDOI
A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders
Anjené M. Addington,Julie Gauthier,Amélie Piton,Fadi F. Hamdan,A Raymond,Nitin Gogtay,Rachel Miller,Julia W. Tossell,Jennifer L. Bakalar,G Germain,Peter Gochman,Robert Long,Judith L. Rapoport,Guy A. Rouleau +13 more
TL;DR: A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders is identified.