| 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 | 306 | 2002 |
| Early mortality in a multinational systemic sclerosis inception cohort Y Hao, M Hudson, M Baron, P Carreira, W Stevens, C Rabusa, ... Arthritis & rheumatology 69 (5), 1067-1077, 2017 | 194 | 2017 |
| CpG methylation, a parent-of-origin effect for maternal-biased transmission of congenital myotonic dystrophy L Barbé, S Lanni, A López-Castel, S Franck, C Spits, K Keymolen, ... The American Journal of Human Genetics 100 (3), 488-505, 2017 | 99 | 2017 |
| The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with … A Odermatt, K Barton, VK Khanna, J Mathieu, D Escolar, T Kuntzer, ... Human genetics 106, 482-491, 2000 | 95 | 2000 |
| Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia D Pellerin, MC Danzi, C Wilke, M Renaud, S Fazal, MJ Dicaire, CK Scriba, ... New England Journal of Medicine 388 (2), 128-141, 2023 | 91 | 2023 |
| Cognitive decline over time in adults with myotonic dystrophy type 1: a 9-year longitudinal study B Gallais, C Gagnon, J Mathieu, L Richer Neuromuscular Disorders 27 (1), 61-72, 2017 | 84 | 2017 |
| SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases K Choquet, M Tétreault, S Yang, R La Piana, MJ Dicaire, MR Vanstone, ... European Journal of Human Genetics 24 (7), 1016-1021, 2016 | 67 | 2016 |
| Calcinosis is associated with digital ischaemia in systemic sclerosis—a longitudinal study M Baron, J Pope, D Robinson, N Jones, N Khalidi, P Docherty, ... Rheumatology 55 (12), 2148-2155, 2016 | 66 | 2016 |
| Clinical presentation and early evolution of spastic ataxia of Charlevoix‐Saguenay A Duquette, B Brais, JP Bouchard, J Mathieu Movement Disorders 28 (14), 2011-2014, 2013 | 65 | 2013 |
| Diversity of ARSACS mutations in French-Canadians I Thiffault, MJ Dicaire, M Tetreault, KN Huang, J Demers-Lamarche, ... Canadian journal of neurological sciences 40 (1), 61-66, 2013 | 65 | 2013 |
| Clinical, psychosocial, and central correlates of quality of life in myotonic dystrophy type 1 patients L Laberge, J Mathieu, J Auclair, É Gagnon, L Noreau, C Gagnon European neurology 70 (5-6), 308-315, 2013 | 62 | 2013 |
| The impact of pain and itch on functioning and health-related quality of life in systemic sclerosis: an exploratory study M Racine, M Hudson, M Baron, WR Nielson, J Pope, J Markland, ... Journal of pain and symptom management 52 (1), 43-53, 2016 | 60 | 2016 |
| Frailty index to measure health status in people with systemic sclerosis MR Rockwood, E MacDonald, E Sutton, K Rockwood, M Baron, ... The Journal of Rheumatology 41 (4), 698-705, 2014 | 50 | 2014 |
| Genetic epidemiology of sensorimotor polyneuropathy with or without agenesis of the corpus callosum in northeastern Quebec M De Braekeleer, A Dallaire, J Mathieu Human genetics 91, 223-227, 1993 | 50 | 1993 |
| Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing S Lévesque, C Auray-Blais, E Gravel, M Boutin, L Dempsey-Nunez, ... Orphanet Journal of Rare Diseases 11, 1-10, 2016 | 49 | 2016 |
| Agreement with guidelines from a large database for management of systemic sclerosis: results from the Canadian Scleroderma Research Group J Pope, S Harding, S Khimdas, A Bonner, M Baron, ... The Journal of rheumatology 39 (3), 524-531, 2012 | 46 | 2012 |
| Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes G Overend, C Légaré, J Mathieu, L Bouchard, C Gagnon, DG Monckton Human Molecular Genetics 28 (13), 2245-2254, 2019 | 45 | 2019 |
| A 9-year follow-up study of quantitative muscle strength changes in myotonic dystrophy type 1 C Gagnon, É Petitclerc, M Kierkegaard, J Mathieu, É Duchesne, LJ Hébert Journal of neurology 265, 1698-1705, 2018 | 43 | 2018 |
| Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1) S Jean, L Richer, L Laberge, J Mathieu Orphanet Journal of Rare Diseases 9, 1-10, 2014 | 43 | 2014 |
| Prevalence of lifestyle risk factors in myotonic dystrophy type 1 C Gagnon, MC Chouinard, L Laberge, D Brisson, D Gaudet, M Lavoie, ... Canadian journal of neurological sciences 40 (1), 42-47, 2013 | 43 | 2013 |
