M
Michel Vanasse
Researcher at Université de Montréal
Publications - 78
Citations - 4009
Michel Vanasse is an academic researcher from Université de Montréal. The author has contributed to research in topics: Ataxia & Duchenne muscular dystrophy. The author has an hindex of 29, co-authored 78 publications receiving 3793 citations. Previous affiliations of Michel Vanasse include Montreal General Hospital & Centre Hospitalier Universitaire Sainte-Justine.
Papers
More filters
Journal ArticleDOI
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
Patrick Cossette,Lidong Liu,Katéri Brisebois,Haiheng Dong,Haiheng Dong,Anne Lortie,Michel Vanasse,Jean-Marc Saint-Hilaire,Lionel Carmant,Andrei Verner,Wei-Yang Lu,Wei-Yang Lu,Yu Tian Wang,Guy A. Rouleau +13 more
TL;DR: It is reported that an Ala322Asp mutation in GABRA1, encoding the α1 subunit of the γ-aminobutyric acid receptor subtype A (GABAA), is found in affected individuals of a large French Canadian family with juvenile myoclonic epilepsy.
Journal ArticleDOI
Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
Fadi F. Hamdan,Julie Gauthier,Yoichi Araki,Da Ting Lin,Yuhki Yoshizawa,Kyohei Higashi,A-Reum Park,Dan Spiegelman,Sylvia Dobrzeniecka,Amélie Piton,Hideyuki Tomitori,Hussein Daoud,Christine Massicotte,Edouard Henrion,Ousmane Diallo,Masoud Shekarabi,Claude Marineau,Michael Shevell,Bruno Maranda,Grant A. Mitchell,Amélie Nadeau,Guy D'Anjou,Michel Vanasse,Myriam Srour,Ronald G. Lafrenière,Pierre Drapeau,Jean-Claude Lacaille,Eunjoon Kim,Jae-Ran Lee,Kazuei Igarashi,Richard L. Huganir,Guy A. Rouleau,Jacques L. Michaud +32 more
TL;DR: In this article, de novo mutations (DNMs) in synaptic genes explain an important fraction of sporadic nonsyndromic intellectual disability (NSID) cases, finding 11 DNMs, including ten potentially deleterious mutations (three nonsense, two splicing, one frameshift, four missense) and one neutral mutation (silent).
Journal ArticleDOI
Myoblast transfer in duchenne muscular dystrophy
George Karpati,Djordje Ajdukovic,Douglas L. Arnold,Robert B. Gledhill,Ronald D. Guttmann,Paul C. Holland,Penelope A. Koch,Eric A. Shoubridge,Desmond G. Spence,Michel Vanasse,Gordon V. Watters,M. Abrahamowicz,Catherine Duff,Ronald G. Worton +13 more
TL;DR: The overall therapeutic efficiency of the myoblast transfer was poor as judged by the results in maximal voluntary force generation, dystrophin content of the muscle, magnetic resonance imaging of the Muscle, and the lack of donor‐derived DNA and dyStrophin messenger RNA in the injected muscle.
Journal ArticleDOI
Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion
Laura Montermini,Andrea Richeter,Kenneth Morgan,Cristina M. Justice,Dominique Julien,Barbara Castellotti,Jocelyne Mercier,Josée Poirier,Fiorentino Capozzoli,Jean-Pierre Bouchard,Bernard Lemieux,Jean Mathieu,Michel Vanasse,Marie-Helene Seni,Gail Graham,Frederick Andermann,Eva Andermann,Serge B. Melançon,Bronya J.B. Keats,Stefano Di Donato,Massimo Pandolfo +20 more
TL;DR: The study indicated the existence of several sources of variability in FRDA, and some clinical variants associated with specific FRDA haplotypes, such as Acadian FRDA and FARR, turned out to be unrelated to expansion sizes.
Journal ArticleDOI
Increased levels of plasma malondialdehyde in Friedreich ataxia.
TL;DR: Several lines of evidence support the hypothesis that similar mechanisms are involved in the human disease, and data from yeast suggest that frataxin deficiency results in mitochondrial dysfunction and free radical damage.