| 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 | 1850 | 2008 |
| 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 | 378 | 2007 |
| Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κB–mediated pathogenic pathways V Swarup, D Phaneuf, N Dupré, S Petri, M Strong, J Kriz, JP Julien Journal of Experimental Medicine 208 (12), 2429-2447, 2011 | 361 | 2011 |
| The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum HC Howard, DB Mount, D Rochefort, N Byun, N Dupré, J Lu, X Fan, ... Nature genetics 32 (3), 384-392, 2002 | 311 | 2002 |
| 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 |
| 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 | 214 | 2012 |
| From animal models to human disease: a genetic approach for personalized medicine in ALS V Picher-Martel, PN Valdmanis, PV Gould, JP Julien, N Dupré Acta neuropathologica communications 4, 1-29, 2016 | 208 | 2016 |
| 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 | 181 | 2009 |
| Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis C Dobson-Stone, A Danek, L Rampoldi, RJ Hardie, RM Chalmers, ... European Journal of Human Genetics 10 (11), 773-781, 2002 | 179 | 2002 |
| Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis HM Kaneb, AW Folkmann, VV Belzil, LE Jao, CS Leblond, SL Girard, ... Human molecular genetics 24 (5), 1363-1373, 2015 | 159 | 2015 |
| Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p PN Valdmanis, N Dupre, JP Bouchard, W Camu, F Salachas, V Meininger, ... Archives of Neurology 64 (2), 240-245, 2007 | 155 | 2007 |
| Misfolded SOD1 pathology in sporadic amyotrophic lateral sclerosis B Paré, M Lehmann, M Beaudin, U Nordström, S Saikali, JP Julien, ... Scientific reports 8 (1), 14223, 2018 | 140 | 2018 |
| Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis H Daoud, V Belzil, S Martins, M Sabbagh, P Provencher, L Lacomblez, ... Archives of neurology 68 (6), 739-742, 2011 | 127 | 2011 |
| Mutations in CAPN1 cause autosomal-recessive hereditary spastic paraplegia Z Gan-Or, N Bouslam, N Birouk, A Lissouba, DB Chambers, J Vérièpe, ... The American Journal of Human Genetics 98 (5), 1038-1046, 2016 | 125 | 2016 |
| SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease RN Alcalay, V Mallett, B Vanderperre, O Tavassoly, Y Dauvilliers, RYJ Wu, ... Movement Disorders 34 (4), 526-535, 2019 | 118 | 2019 |
| Clinical and genetic study of hereditary spastic paraplegia in Canada N Chrestian, N Dupré, Z Gan-Or, A Szuto, S Chen, A Venkitachalam, ... Neurology: Genetics 3 (1), e122, 2016 | 114 | 2016 |
| The classification of autosomal recessive cerebellar ataxias: a consensus statement from the society for research on the cerebellum and ataxias task force M Beaudin, A Matilla-Dueñas, BW Soong, JL Pedroso, OG Barsottini, ... The Cerebellum 18, 1098-1125, 2019 | 112 | 2019 |
| Hereditary motor and sensory neuropathy with agenesis of the corpus callosum N Dupré, HC Howard, J Mathieu, G Karpati, M Vanasse, JP Bouchard, ... Annals of neurology 54 (1), 9-18, 2003 | 108 | 2003 |
| Pompe disease: diagnosis and management. Evidence-based guidelines from a Canadian expert panel M Tarnopolsky, H Katzberg, BJ Petrof, S Sirrs, HB Sarnat, K Myers, ... Canadian Journal of Neurological Sciences 43 (4), 472-485, 2016 | 100 | 2016 |
| Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis E Kabashi, H El Oussini, V Bercier, F Gros-Louis, PN Valdmanis, ... Human molecular genetics 22 (12), 2350-2360, 2013 | 100 | 2013 |
Guy RouleauMontreal Neurological Institute-Hospital, McGill UniversityVerified email at mcgill.ca
