Nicolas Dupre
Nicolas Dupre
Adresse e-mail validée de fmed.ulaval.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
15132008
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
3152007
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
2602002
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
2552011
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
2102009
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
1662012
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
1492009
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
1412002
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
1392007
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), 1-29, 2016
1192016
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
1192015
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
952011
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
952003
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
772016
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
N Dupré, F Gros‐Louis, N Chrestian, S Verreault, D Brunet, D de Verteuil, ...
Annals of neurology 62 (1), 93-98, 2007
712007
Intra‐arterial milrinone for reversible cerebral vasoconstriction syndrome
M Bouchard, S Verreault, JL Gariépy, N Dupré
Headache: The Journal of Head and Face Pain 49 (1), 142-145, 2009
692009
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
662013
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
642016
Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden
PN Valdmanis, E Kabashi, A Dyck, P Hince, J Lee, P Dion, M D'Amour, ...
Neurology 71 (7), 514-520, 2008
592008
Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis
VV Belzil, H Daoud, A Desjarlais, JP Bouchard, N Dupré, W Camu, ...
Neurobiology of aging 32 (3), 555. e13-555. e14, 2011
572011
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