Rezultati - Patrick A. Dion
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Genetics of Intracranial Aneurysms od Sirui Zhou, Patrick A. Dion, Guy A. Rouleau
Izdano 2018Revisão -
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Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals od Amélie Piton, Loubna Jouan, Daniel Rochefort, Sylvia Dobrzeniecka, Karine Lachapelle, Patrick A. Dion, Julie Gauthier, Guy A. Rouleau
Izdano 2012Artigo -
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Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder od Cristiana Cruceanu, Amirthagowri Ambalavanan, Dan Spiegelman, Julie Gauthier, Ronald G. Lafrenière, Patrick A. Dion, Martin Alda, Gustavo Turecki, Guy A. Rouleau
Izdano 2013Artigo -
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Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia od Nancy D. Merner, Madison R. Chandler, Cynthia V. Bourassa, Bo Liang, Arjun R. Khanna, Patrick A. Dion, Guy A. Rouleau, Kristopher T. Kahle
Izdano 2015Artigo -
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Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis od Hussein Daoud, Véronique Belzil, Sandra Martins, Mike Sabbagh, Pierre Provencher, Lucette Lacomblez, Vincent Meininger, William Camu, Nicolas Dupré, Patrick A. Dion, Guy A. Rouleau
Izdano 2011Artigo -
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Restless legs syndrome‐associated <i>MEIS1</i> risk variant influences iron homeostasis od Hélène Catoire, Patrick A. Dion, Lan Xiong, Mourabit Amari, Rébecca Gaudet, Simon Girard, Anne Noreau, Cláudia Gaspar, Gustavo Turecki, Jacques Montplaisir, J. Alex Parker, Guy A. Rouleau
Izdano 2011Artigo -
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Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients od Paloma González-Pérez, Ute Woehlbier, Ru-Ju Chian, Peter C. Sapp, Guy A. Rouleau, Claire S. Leblond, Hussein Daoud, Patrick A. Dion, John E. Landers, Claudio Hetz, Robert H. Brown
Izdano 2015Artigo -
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C9orf72 repeat expansions are a rare genetic cause of parkinsonism od Suzanne Lesage, Isabelle Le Ber, Christel Condroyer, Emmanuel Broussolle, Audrey Gabelle, Stéphane Thobois, Florence Pasquier, Karl Mondon, Patrick A. Dion, Daniel Rochefort, Guy A. Rouleau, Alexandra Dürr, Alexis Brice
Izdano 2013Artigo -
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Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo od Edor Kabashi, Liang‐In 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
Izdano 2009Artigo -
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Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD od Michael Niblock, Bradley Smith, Youn‐Bok Lee, Valentina Sardone, Simon Topp, Claire Troakes, Safa Al‐Sarraj, Claire S. Leblond, Patrick A. Dion, Guy A. Rouleau, Christopher E. Shaw, Jean‐Marc Gallo
Izdano 2016Artigo -
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Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion od Rossella Spataro, Maria Kousi, Sali M.K. Farhan, Jason R. Willer, Jay P. Ross, Patrick A. Dion, Guy A. Rouleau, Mark J. Daly, Benjamin M. Neale, Vincenzo La Bella, Nicholas Katsanis
Izdano 2019Artigo -
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Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids od Yoshitaka Tamaki, Jay P. Ross, Paria Alipour, Charles-Étienne Castonguay, Boting Li, Hélène Catoire, Daniel Rochefort, Makoto Urushitani, Ryōsuke Takahashi, Joshua A. Sonnen, Stefano Stifani, Patrick A. Dion, Guy A. Rouleau
Izdano 2023Artigo -
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Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis od François Gros‐Louis, Peter M. Andersen, Nicolas Dupré, Makoto Urushitani, Patrick A. Dion, F Souchon, Monique L. D'Amour, William Camu, Vincent Meininger, Jean‐Pierre Bouchard, Guy A. Rouleau, Jean‐Pierre Julien
Izdano 2009Artigo
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