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 Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis
Kyota Aoyagi,Elsa Rossignol,Fadi F. Hamdan,Ben Mulcahy,Lin Xie,Shinya Nagamatsu,Guy A. Rouleau,Mei Zhen,Jacques L. Michaud +8 more
TL;DR: It is suggested that dominant mutations in NALCN can cause a neurodevelopmental phenotype that overlaps with, while being mostly distinct from that associated with recessive mutations in the same gene.
Journal ArticleDOI
Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients
Iscia Lopes-Cendesi,Helio Ghizoni Teive,Maria Elisa Calcagnotto,Jaderson Costa da Costa,Francisco Cardoso,Erika M. Viana,Jaime A. Maciel Jr,João Radvany,Walter O. Arruda,P. C. Trevisol-Bittencourt,Pedro Rosa Neto,Isabel Silveira,Carlos Eduardo Steiner,Walter Pinto-Junior,André S. Santos,Ylmar Correa Neto,Lineu Cesar Werneck,Abelardo Q.C. Araújo,Gerson Carakushansky,Luiz Renato Mello,Laura Bannach Jardim,Guy A. Rouleau +21 more
TL;DR: The results suggest that SCA may be occasionally caused by the SCA1 and SCA2 mutations in the Brazilian population, and that the MJD/SCA3 mutation is the most common cause of dominantly inherited SCA in Brazil.
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Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.
Jay P. Ross,Jay P. Ross,Nicolas Dupré,Yves Dauvilliers,Stephanie Strong,Stephanie Strong,Amirthagowri Ambalavanan,Amirthagowri Ambalavanan,Dan Spiegelman,Dan Spiegelman,Alexandre Dionne-Laporte,Alexandre Dionne-Laporte,Emmanuelle Pourcher,Mélanie Langlois,Michel Boivin,Michel Boivin,Claire S. Leblond,Claire S. Leblond,Patrick A. Dion,Patrick A. Dion,Guy A. Rouleau,Guy A. Rouleau,Ziv Gan-Or,Ziv Gan-Or +23 more
TL;DR: The results provide some support for the possibility that specific DNAJC13 variants may play a minor role in PD susceptibility, although studies in additional populations are necessary.
Journal ArticleDOI
No association between chromosome-18 markers and lithium-responsive affective disorders.
Gustavo Turecki,M. Alda,Paul Grof,Eva Grof,Rory Martin,P. Cavazzoni,Anne Duffy,Patrícia Maciel,Guy A. Rouleau +8 more
TL;DR: An allelic association study of excellent responders to lithium was conducted with a candidate gene (G olf), a Gprotein receptor gene, and five other chromosome-18p markers and the data do not support the hypothesis that the tested loci confer a major susceptibility for affective disorders.
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Mapping of human chromosome 22 with a panel of somatic cell hybrids.
Olivier Delattre,Carlos J. Azambuja,Alain Aurias,Jessica Zucman,Martine Peter,Fangrong Zhang,Marie Claude Hors-Cayla,Guy A. Rouleau,Gilles Thomas +8 more
TL;DR: A set of 17 somatic cell hybrids containing defined regions of human chromosome 22 is constructed using a Chinese hamster ovary cell line deficient in ADSL activity, which enables the rapid assignment of chromosome 22 single copy probes to small subregions.