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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 | 365 | 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 | 353 | 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 | 309 | 2002 |
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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 | 212 | 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 | 199 | 2016 |
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 |
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 | 178 | 2009 |
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 | 154 | 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 | 151 | 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 | 130 | 2018 |
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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 | 118 | 2016 |
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 | 111 | 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 | 109 | 2019 |
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Genome-wide association study in essential tremor identifies three new loci SH Müller, SL Girard, F Hopfner, ND Merner, CV Bourassa, D Lorenz, ... Brain 139 (12), 3163-3169, 2016 | 94 | 2016 |