Patrick A. Dion
Patrick A. Dion
Dirección de correo verificada de mcgill.ca
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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
E Kabashi, PN Valdmanis, P Dion, D Spiegelman, BJ McConkey, ...
Nature genetics 40 (5), 572-574, 2008
14232008
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ...
Science 347 (6229), 1436-1441, 2015
5882015
Increased exonic de novo mutation rate in individuals with schizophrenia
SL Girard, J Gauthier, A Noreau, L Xiong, S Zhou, L Jouan, ...
Nature genetics 43 (9), 860-863, 2011
4102011
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo
E Kabashi, L Lin, ML Tradewell, PA Dion, V Bercier, P Bourgouin, ...
Human molecular genetics 19 (4), 671-683, 2010
3532010
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
F Gros-Louis, N Dupré, P Dion, MA Fox, S Laurent, S Verreault, JR Sanes, ...
Nature genetics 39 (1), 80-85, 2007
3022007
Genetics of motor neuron disorders: new insights into pathogenic mechanisms
PA Dion, H Daoud, GA Rouleau
Nature Reviews Genetics 10 (11), 769-782, 2009
2932009
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
BN Smith, N Ticozzi, C Fallini, AS Gkazi, S Topp, KP Kenna, EL Scotter, ...
Neuron 84 (2), 324-331, 2014
2352014
Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis
H Daoud, PN Valdmanis, E Kabashi, P Dion, N Dupre, W Camu, ...
Journal of medical genetics 46 (2), 112-114, 2009
2042009
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
PN Valdmanis, IA Meijer, A Reynolds, A Lei, P MacLeod, D Schlesinger, ...
The American Journal of Human Genetics 80 (1), 152-161, 2007
1702007
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
1562018
Oxidized/misfolded superoxide dismutase‐1: the cause of all amyotrophic lateral sclerosis?
E Kabashi, PN Valdmanis, P Dion, GA Rouleau
Annals of Neurology: Official Journal of the American Neurological …, 2007
1532007
Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease
Z Gan-Or, PA Dion, GA Rouleau
Autophagy 11 (9), 1443-1457, 2015
1522015
Exome sequencing identifies FUS mutations as a cause of essential tremor
ND Merner, SL Girard, H Catoire, CV Bourassa, VV Belzil, JB Rivière, ...
The American Journal of Human Genetics 91 (2), 313-319, 2012
1492012
Mutations in FUS cause FALS and SALS in French and French Canadian populations
VV Belzil, PN Valdmanis, PA Dion, H Daoud, E Kabashi, A Noreau, ...
Neurology 73 (15), 1176-1179, 2009
1472009
Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans
M Therrien, GA Rouleau, PA Dion, JA Parker
PloS one 8 (12), e83450, 2013
1442013
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2
JB Rivière, S Ramalingam, V Lavastre, M Shekarabi, S Holbert, ...
The American Journal of Human Genetics 89 (2), 219-230, 2011
1372011
Mutations in DCC cause congenital mirror movements
M Srour, JB Rivière, JMT Pham, MP Dubé, S Girard, S Morin, PA Dion, ...
Science 328 (5978), 592-592, 2010
1372010
Dissection of genetic factors associated with amyotrophic lateral sclerosis
CS Leblond, HM Kaneb, PA Dion, GA Rouleau
Experimental neurology 262, 91-101, 2014
1352014
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
S Lesage, I Le Ber, C Condroyer, E Broussolle, A Gabelle, S Thobois, ...
Brain 136 (2), 385-391, 2013
1342013
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi, BJ Kenna, ...
Nature genetics 48 (9), 1037-1042, 2016
1332016
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20