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A Mutation that Creates a Pseudoexon in SOD1 Causes Familial ALS PN Valdmanis, VV Belzil, J Lee, PA Dion, J St‐Onge, P Hince, B Funalot, ... Annals of human genetics 73 (6), 652-657, 2009 | 42 | 2009 |
A new ELOVL4 mutation in a case of spinocerebellar ataxia with erythrokeratodermia CV Bourassa, S Raskin, S Serafini, HAG Teive, PA Dion, GA Rouleau JAMA neurology 72 (8), 942-943, 2015 | 44 | 2015 |
A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain M Mansouri, SC Elalaoui, BOA Bencheikh, M El Alloussi, PA Dion, ... Pediatric neurology 51 (5), 741-744, 2014 | 20 | 2014 |
A polyalanine antibody for the diagnosis of oculopharyngeal muscular dystrophy and polyalanine-related diseases SJ Stochmanski, F Blondeau, M Girard, P Hince, D Rochefort, C Gaspar, ... MNI Open Research 1, 1, 2017 | | 2017 |
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Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish F Gros-Louis, J Kriz, E Kabashi, J McDearmid, S Millecamps, M Urushitani, ... Human molecular genetics 17 (17), 2691-2702, 2008 | 60 | 2008 |