| 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 | 1859 | 2008 |
| 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 | 1060 | 2015 |
| 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), 1267-1288, 2018 | 664 | 2018 |
| 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 | 507 | 2010 |
| 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 | 486 | 2011 |
| 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 | 450 | 2014 |
| 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 | 393 | 2021 |
| 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 | 381 | 2007 |
| Genetics of motor neuron disorders: new insights into pathogenic mechanisms PA Dion, H Daoud, GA Rouleau Nature Reviews Genetics 10 (11), 769-782, 2009 | 353 | 2009 |
| 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 | 316 | 2016 |
| 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 | 309 | 2015 |
| 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 | 242 | 2013 |
| 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 | 239 | 2016 |
| 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 | 237 | 2009 |
| 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 | 232 | 2007 |
| 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 | 218 | 2012 |
| 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 | 213 | 2011 |
| 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 | 209 | 2010 |
| 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 | 200 | 2014 |
| Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia A Boukhris, R Schule, JL Loureiro, CM Lourenço, E Mundwiller, ... The American Journal of Human Genetics 93 (1), 118-123, 2013 | 195 | 2013 |
