Výsledky vyhledávání - Patrick A. Dion
- Zobrazuji výsledky 1 - 20 z 60
- Přejít na další stránku
-
1
-
2
Genetics of Intracranial Aneurysms Autor Sirui Zhou, Patrick A. Dion, Guy A. Rouleau
Vydáno 2018Revisão -
3
-
4
-
5
-
6
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals Autor Amélie Piton, Loubna Jouan, Daniel Rochefort, Sylvia Dobrzeniecka, Karine Lachapelle, Patrick A. Dion, Julie Gauthier, Guy A. Rouleau
Vydáno 2012Artigo -
7
Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/β-catenin pathway Autor Ayman AbuBaker, Janet Laganière, Rébecca Gaudet, Daniel Rochefort, Bernard Brais, Christian Néri, Patrick A. Dion, Guy A. Rouleau
Vydáno 2013Artigo -
8
-
9
Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder Autor Cristiana Cruceanu, Amirthagowri Ambalavanan, Dan Spiegelman, Julie Gauthier, Ronald G. Lafrenière, Patrick A. Dion, Martin Alda, Gustavo Turecki, Guy A. Rouleau
Vydáno 2013Artigo -
10
Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia Autor Nancy D. Merner, Madison R. Chandler, Cynthia V. Bourassa, Bo Liang, Arjun R. Khanna, Patrick A. Dion, Guy A. Rouleau, Kristopher T. Kahle
Vydáno 2015Artigo -
11
Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis Autor Hussein Daoud, Véronique Belzil, Sandra Martins, Mike Sabbagh, Pierre Provencher, Lucette Lacomblez, Vincent Meininger, William Camu, Nicolas Dupré, Patrick A. Dion, Guy A. Rouleau
Vydáno 2011Artigo -
12
-
13
Restless legs syndrome‐associated <i>MEIS1</i> risk variant influences iron homeostasis Autor 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
Vydáno 2011Artigo -
14
Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients Autor 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
Vydáno 2015Artigo -
15
C9orf72 repeat expansions are a rare genetic cause of parkinsonism Autor 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
Vydáno 2013Artigo -
16
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo Autor 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
Vydáno 2009Artigo -
17
Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD Autor 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
Vydáno 2016Artigo -
18
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion Autor 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
Vydáno 2019Artigo -
19
Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids Autor 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
Vydáno 2023Artigo -
20
Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis Autor 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
Vydáno 2009Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Medicine
Disease
Internal medicine
Mutation
Neuroscience
Amyotrophic lateral sclerosis
Phenotype
Pathology
Genotype
Allele
Exome sequencing
Single-nucleotide polymorphism
Genome-wide association study
Trinucleotide repeat expansion
Genetic association
C9orf72
Cell biology
Missense mutation
Cohort
Hereditary spastic paraplegia
Psychiatry
Biochemistry
Environmental health
Exome
Mutant
Population
Ataxia