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
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
Jérôme Lamartine,Guilherme Munhoz Essenfelder,Zoha Kibar,Isabelle Lanneluc,Edwige Callouet,Dalila Laoudj,Gilles Lemaitre,Colette Hand,Susan J. Hayflick,Jonathan Zonana,Stylianos E. Antonarakis,Uppala Radhakrishna,David P. Kelsell,A. L. Christianson,Amandine Pitaval,Vazken M. Der Kaloustian,C.M. F. Clarke Fraser Ph.D.,Claudine Blanchet-Bardon,Guy A. Rouleau,Gilles Waksman +19 more
Journal ArticleDOI
Genetics of familial and sporadic amyotrophic lateral sclerosis.
TL;DR: The pathways leading to the specific motor neurons degeneration in the presence of SOD1 mutations have not been fully identified and this review provides an overview of the genetics of both familial and sporadic forms of ALS.
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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
Julie Gauthier,Tabrez J. Siddiqui,Peng Huashan,Daisaku Yokomaku,Fadi F. Hamdan,Nathalie Champagne,Mathieu Lapointe,Dan Spiegelman,Anne Noreau,Ronald G. Lafrenière,Ferid Fathalli,Ridha Joober,Marie-Odile Krebs,Lynn E. DeLisi,Laurent Mottron,Eric Fombonne,Jacques L. Michaud,Pierre Drapeau,Salvatore Carbonetto,Ann Marie Craig,Guy A. Rouleau +20 more
TL;DR: NRXN2 disruption to the pathogenesis of ASD is linked for the first time and the involvement of NRXN1 in SCZ is strengthened, supporting the notion of a common genetic mechanism in these disorders.
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Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments
Vivek Swarup,Daniel Phaneuf,Christine Bareil,Janice Robertson,Guy A. Rouleau,Jasna Kriz,Jean-Pierre Julien +6 more
TL;DR: Real-time imaging with the use of biophotonic transactive response DNA-binding protein 43 transgenic mice carrying a glial fibrillary acidic protein-luciferase reporter revealed that the behavioural defects were preceded by induction of astrogliosis, a finding consistent with a role for reactive astrocytes in amyotrophic lateral sclerosis pathogenesis.
Journal ArticleDOI
Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis
B. R. Seizinger,Guy A. Rouleau,Laurie J. Ozelius,A.H. Lane,P. St. George-Hyslop,Susan M Huson,James F. Gusella,Robert L. Martuza +7 more
TL;DR: Specific loss of alleles from chromosome 22 was detected with polymorphic DNA markers in two acoustic neuromas, two neurofibromas, and one meningioma from BANF patients, indicating a common pathogenetic mechanism for all three tumor types.