| 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 | 1805 | 2008 |
| Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo E Kabashi, L Lin, ML Tradewell, PA Dion, V Bercier, P Bourgouin, ... Human molecular genetics 19 (4), 671-683, 2010 | 485 | 2010 |
| Loss of C9 ORF 72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death C Sellier, ML Campanari, C Julie Corbier, A Gaucherot, I Kolb‐Cheynel, ... The EMBO journal 35 (12), 1276-1297, 2016 | 437 | 2016 |
| Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis S Ciura, S Lattante, I Le Ber, M Latouche, H Tostivint, A Brice, E Kabashi Annals of neurology 74 (2), 180-187, 2013 | 429 | 2013 |
| Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy S Lesage, V Drouet, E Majounie, V Deramecourt, M Jacoupy, A Nicolas, ... The American Journal of Human Genetics 98 (3), 500-513, 2016 | 416 | 2016 |
| TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update S Lattante, GA Rouleau, E Kabashi Human mutation 34 (6), 812-826, 2013 | 333 | 2013 |
| FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis E Kabashi, V Bercier, A Lissouba, M Liao, E Brustein, GA Rouleau, ... PLoS genetics 7 (8), e1002214, 2011 | 243 | 2011 |
| 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 |
| Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia E Martin, R Schüle, K Smets, A Rastetter, A Boukhris, JL Loureiro, ... The American Journal of Human Genetics 92 (2), 238-244, 2013 | 198 | 2013 |
| SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis I Le Ber, A Camuzat, R Guerreiro, K Bouya-Ahmed, J Bras, G Nicolas, ... JAMA neurology 70 (11), 1403-1410, 2013 | 193 | 2013 |
| Focal dysfunction of the proteasome: a pathogenic factor in a mouse model of amyotrophic lateral sclerosis E Kabashi, JN Agar, DM Taylor, S Minotti, HD Durham Journal of neurochemistry 89 (6), 1325-1335, 2004 | 186 | 2004 |
| 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 |
| Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD) S Lattante, S Ciura, GA Rouleau, E Kabashi Trends in Genetics 31 (5), 263-273, 2015 | 153 | 2015 |
| Pharmacological reduction of ER stress protects against TDP-43 neuronal toxicity in vivo A Vaccaro, SA Patten, D Aggad, C Julien, C Maios, E Kabashi, P Drapeau, ... Neurobiology of disease 55, 64-75, 2013 | 147 | 2013 |
| Zebrafish models for the functional genomics of neurogenetic disorders E Kabashi, E Brustein, N Champagne, P Drapeau Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1812 (3), 335-345, 2011 | 144 | 2011 |
| ATXN2 trinucleotide repeat length correlates with risk of ALS W Sproviero, A Shatunov, D Stahl, M Shoai, W van Rheenen, AR Jones, ... Neurobiology of aging 51, 178. e1-178. e9, 2017 | 122 | 2017 |
| Methylene Blue Protects against TDP-43 and FUS Neuronal Toxicity in C. elegans and D. rerio A Vaccaro, SA Patten, S Ciura, C Maios, M Therrien, P Drapeau, ... Public Library of Science 7 (7), e42117, 2012 | 115 | 2012 |
| Failure of protein quality control in amyotrophic lateral sclerosis E Kabashi, HD Durham Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1762 (11-12 …, 2006 | 113 | 2006 |
| Homozygous TREM2 mutation in a family with atypical frontotemporal dementia I Le Ber, A De Septenville, R Guerreiro, J Bras, A Camuzat, P Caroppo, ... Neurobiology of aging 35 (10), 2419. e23-2419. e25, 2014 | 112 | 2014 |
Sorana CiuraImagine Institute在 institutimagine.org 的电子邮件经过验证
