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Patrick A. Dion
Patrick A. Dion
Adresse e-mail validée 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
17802008
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
9842015
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
5702018
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
4732011
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
4732010
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
4082014
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
3662007
Genetics of motor neuron disorders: new insights into pathogenic mechanisms
PA Dion, H Daoud, GA Rouleau
Nature Reviews Genetics 10 (11), 769-782, 2009
3452009
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
2822015
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
2802016
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ...
Nature genetics 53 (12), 1636-1648, 2021
2652021
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
2322009
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
2292013
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
2272007
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
KL Williams, S Topp, S Yang, B Smith, JA Fifita, ST Warraich, KY Zhang, ...
Nature communications 7 (1), 11253, 2016
2162016
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
2062012
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
1992010
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
1962011
Genetically encoded impairment of neuronal KCC 2 cotransporter function in human idiopathic generalized epilepsy
KT Kahle, ND Merner, P Friedel, L Silayeva, B Liang, A Khanna, Y Shang, ...
EMBO reports 15 (7), 766-774, 2014
1912014
Dissection of genetic factors associated with amyotrophic lateral sclerosis
CS Leblond, HM Kaneb, PA Dion, GA Rouleau
Experimental neurology 262, 91-101, 2014
1842014
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