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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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Journal ArticleDOI
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Edor Kabashi,Paul N. Valdmanis,Patrick A. Dion,Dan Spiegelman,Brendan J. McConkey,Christine Vande Velde,Jean-Pierre Bouchard,Lucette Lacomblez,Ksenia Pochigaeva,François Salachas,Pierre-François Pradat,William Camu,Vincent Meininger,Nicolas Dupré,Nicolas Dupré,Guy A. Rouleau +15 more
TL;DR: Findings further corroborate that TDP-43 is involved in ALS pathogenesis and reports eight missense mutations in nine individuals—six from individuals with sporadic ALS and three from those with familial ALS (FALS)—and a concurring increase of a smaller T DP-43 product.
Journal ArticleDOI
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Elizabeth T. Cirulli,Brittany N. Lasseigne,Slavé Petrovski,Peter C. Sapp,Patrick A. Dion,Claire S. Leblond,Julien Couthouis,Yi-Fan Lu,Quanli Wang,Brian J. Krueger,Zhong-fa Ren,Jonathan E. M. Keebler,Yujun Han,Shawn Levy,Braden E. Boone,Jack R. Wimbish,Lindsay L. Waite,Angela Jones,John P. Carulli,Aaron G. Day-Williams,John F. Staropoli,Winnie Xin,Alessandra Chesi,Alya R. Raphael,Diane McKenna-Yasek,Janet Cady,J. M. B. Vianney de Jong,Kevin P. Kenna,Bradley N. Smith,Simon Topp,Jack W. Miller,Athina-Soragia Gkazi,Ammar Al-Chalabi,Leonard H. van den Berg,Jan H. Veldink,Vincenzo Silani,Nicola Ticozzi,Christopher Shaw,Robert H. Baloh,Stanley H. Appel,Ericka Simpson,Clotilde Lagier-Tourenne,Stefan M. Pulst,Summer Gibson,John Q. Trojanowski,Lauren Elman,Leo McCluskey,Murray Grossman,Neil A. Shneider,Wendy K. Chung,John Ravits,Jonathan D. Glass,Katherine B. Sims,Vivianna M. Van Deerlin,Tom Maniatis,Sebastian D. Hayes,Alban Ordureau,Sharan Swarup,John Landers,Frank Baas,Andrew S. Allen,Richard Bedlack,J. Wade Harper,Aaron D. Gitler,Guy A. Rouleau,Robert H. Brown,Matthew B. Harms,Gregory M. Cooper,Tim Harris,Richard M. Myers,David Goldstein +70 more
TL;DR: A moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS found several known ALS genes were found to be associated, and TBK1 (the gene encoding TANK-binding kinase 1) was identified as an ALS gene.
Journal ArticleDOI
Increased exonic de novo mutation rate in individuals with schizophrenia
Simon Girard,Julie Gauthier,Anne Noreau,Lan Xiong,Sirui Zhou,Loubna Jouan,Alexandre Dionne-Laporte,Dan Spiegelman,Edouard Henrion,Ousmane Diallo,Pascale Thibodeau,Isabelle Bachand,Jessie Y.J. Bao,Amy Hin Yan Tong,Chi-Ho Lin,Bruno Millet,Bruno Millet,Nematollah Jaafari,Nematollah Jaafari,Ridha Joober,Patrick A. Dion,Si Lok,Marie-Odile Krebs,Guy A. Rouleau,Guy A. Rouleau +24 more
TL;DR: This study sequenced the exomes of 14 schizophrenia probands and their parents to identify 15 de novo mutations (DNMs) in eight probands, which is significantly more than expected considering the previously reported DNM rate.
Journal ArticleDOI
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.
Edor Kabashi,Li Lin,Miranda L. Tradewell,Patrick A. Dion,Valérie Bercier,Patrick Bourgouin,Daniel Rochefort,Samar Bel Hadj,Heather D. Durham,Christine Vande Velde,Guy A. Rouleau,Pierre Drapeau +11 more
TL;DR: Together these approaches showed that TARDBP mutations cause motor neuron defects and toxicity, suggesting that both a toxic gain of function as well as a novel loss of function may be involved in the molecular mechanism by which mutant TDP-43 contributes to disease pathogenesis.
Journal ArticleDOI
Genetics of motor neuron disorders: new insights into pathogenic mechanisms
TL;DR: The functional classes of MND genes identified so far are likely to aid the selection of high-priority candidate genes for future investigation, including those for so-called sporadic cases.