P
Patrick A. Dion
Researcher at Montreal Neurological Institute and Hospital
Publications - 225
Citations - 11997
Patrick A. Dion is an academic researcher from Montreal Neurological Institute and Hospital. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Genome-wide association study. The author has an hindex of 49, co-authored 205 publications receiving 10372 citations. Previous affiliations of Patrick A. Dion include McGill University & Université de Montréal.
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An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy.
TL;DR: A family with two affected sisters who are both carriers of an unusual expansion of 18 polyalanines in PABPN1, the longest (GCN)n expansion reported to date is reported, believed to be An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy.
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ALS predisposition modifiers: knock NOX, who's there? SOD1 mice still are.
TL;DR: It was observed that one of the redox-related genes, which is specifically upregulated in activated microglia in spinal cords responding in ALS, is NOX2, and it could be predicted that motor neurons would have less damaging and fewer insults from activatedmicroglia.
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Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population
Sirui Zhou,Lan Xiong,Pingxing Xie,Amirthagowri Ambalavanan,Cynthia V. Bourassa,Alexandre Dionne-Laporte,Dan Spiegelman,Maude Turcotte Gauthier,Edouard Henrion,Ousmane Diallo,Patrick A. Dion,Guy A. Rouleau +11 more
TL;DR: The increased number and frequency of deleterious variants in these fatty acid metabolism genes in Nunavik Inuit may be the result of genetic adaptation to their diet and/or the extremely cold climate, and the identification of these variants may help to understand some of the specific health risks of Nunavk Inuit.
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WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio).
Valérie Bercier,Edna Brustein,Meijiang Liao,Patrick A. Dion,Ronald G. Lafrenière,Guy A. Rouleau,Pierre Drapeau +6 more
TL;DR: A pathway in which WNK1/HSN2 interacts with KCC2 is suggested, producing a novel regulation of its transcription independent of Kcc2's activation, where a loss-of-function mutation in WNK 1 induces an overexpression of K CC2 and hinders proper peripheral sensory nerve development, a hallmark of HSANII.
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Mutation burden of rare variants in schizophrenia candidate genes
Simon Girard,Patrick A. Dion,Cynthia V. Bourassa,Steve Geoffroy,Pamela Lachance-Touchette,Amina Barhdadi,Mathieu Langlois,Ridha Joober,Marie-Odile Krebs,Marie-Pierre Dubé,Guy A. Rouleau +10 more
TL;DR: The absence of overlap in the genes identified suggests that the number of genes involved in SCZ is likely to be very large; a notion supported by the moderate success of Genome-Wide Association Studies (GWAS).