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Nicolas Dupre
Nicolas Dupre
Verified email at fmed.ulaval.ca
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Year
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
18012008
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
3702007
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
3532011
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
3072002
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
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
2112012
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
1982016
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
1782009
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
1782002
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
1532015
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
1522007
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
1272018
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
1262011
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
1162016
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
1092016
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
1092003
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
1072019
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
1022019
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
942016
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
932016
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