Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis TJ Kwiatkowski Jr, DA Bosco, AL Leclerc, E Tamrazian, CR Vanderburg, ... Science 323 (5918), 1205-1208, 2009 | 3056 | 2009 |
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 | 1803 | 2008 |
The loop position of shRNAs and pre-miRNAs is critical for the accuracy of dicer processing in vivo S Gu, L Jin, Y Zhang, Y Huang, F Zhang, PN Valdmanis, MA Kay Cell 151 (4), 900-911, 2012 | 350 | 2012 |
Promoterless gene targeting without nucleases ameliorates haemophilia B in mice A Barzel, NK Paulk, Y Shi, Y Huang, K Chu, F Zhang, PN Valdmanis, ... Nature 517 (7534), 360-364, 2015 | 278 | 2015 |
Genetics of familial amyotrophic lateral sclerosis PN Valdmanis, GA Rouleau Neurology 70 (2), 144-152, 2008 | 262 | 2008 |
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 | 232 | 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 | 228 | 2007 |
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 | 198 | 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 | 178 | 2009 |
Oxidized/misfolded superoxide dismutase‐1: the cause of all amyotrophic lateral sclerosis? E Kabashi, PN Valdmanis, P Dion, GA Rouleau Annals of Neurology: Official Journal of the American Neurological …, 2007 | 178 | 2007 |
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 | 152 | 2007 |
Recent advances in the genetics of amyotrophic lateral sclerosis PN Valdmanis, H Daoud, PA Dion, GA Rouleau Current neurology and neuroscience reports 9 (3), 198-205, 2009 | 149 | 2009 |
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations P Corcia, P Valdmanis, S Millecamps, C Lionnet, H Blasco, K Mouzat, ... Neurology 78 (19), 1519-1526, 2012 | 112 | 2012 |
Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? A Felbecker, W Camu, PN Valdmanis, AD Sperfeld, S Waibel, ... Journal of Neurology, Neurosurgery & Psychiatry 81 (5), 572-577, 2010 | 93 | 2010 |
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 | 92 | 2013 |
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS AM Wills, S Cronin, A Slowik, D Kasperaviciute, MA Van Es, JM Morahan, ... Neurology 73 (1), 16-24, 2009 | 84 | 2009 |
Future of rAAV gene therapy: platform for RNAi, gene editing, and beyond PN Valdmanis, MA Kay Human Gene Therapy 28 (4), 361-372, 2017 | 71 | 2017 |
Integrative gene–tissue microarray-based approach for identification of human disease biomarkers: application to amyotrophic lateral sclerosis LC Kudo, L Parfenova, N Vi, K Lau, J Pomakian, P Valdmanis, ... Human Molecular Genetics 19 (16), 3233-3253, 2010 | 68 | 2010 |
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 | 68 | 2008 |
miR-122 removal in the liver activates imprinted microRNAs and enables more effective microRNA-mediated gene repression PN Valdmanis, HK Kim, K Chu, F Zhang, J Xu, EM Munding, J Shen, ... Nature communications 9 (1), 5321, 2018 | 66 | 2018 |