| 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 | 166 | 2023 |
| Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy A Duquette, K Roddier, J McNabb‐Baltar, I Gosselin, A St‐Denis, ... Annals of neurology 57 (3), 408-414, 2005 | 150 | 2005 |
| Friedreich ataxia SI Bidichandani, MB Delatycki, M Napierala, A Duquette GeneReviews®[internet], 2024 | 146 | 2024 |
| Safety and efficacy of tilavonemab in progressive supranuclear palsy: a phase 2, randomised, placebo-controlled trial GU Höglinger, I Litvan, N Mendonca, D Wang, H Zheng, ... The Lancet Neurology 20 (3), 182-192, 2021 | 133 | 2021 |
| Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene E Stumpf, H Masson, A Duquette, F Berthelet, J McNabb, A Lortie, ... Archives of neurology 60 (9), 1307-1312, 2003 | 119 | 2003 |
| 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 | 72 | 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 | 70 | 2013 |
| Best practices in the clinical management of progressive supranuclear palsy and corticobasal syndrome: a consensus statement of the CurePSP centers of care B Bluett, AY Pantelyat, I Litvan, F Ali, D Apetauerova, D Bega, L Bloom, ... Frontiers in neurology 12, 694872, 2021 | 67 | 2021 |
| Tau secretion: good and bad for neurons C Pernègre, A Duquette, N Leclerc Frontiers in neuroscience 13, 649, 2019 | 64 | 2019 |
| Tominersen in adults with manifest Huntington's disease P McColgan, A Thobhani, L Boak, SA Schobel, A Nicotra, G Palermo, ... The New England journal of medicine 389 (23), 2203-2205, 2023 | 49 | 2023 |
| Natural history of Friedreich ataxia: heterogeneity of neurologic progression and consequences for clinical trial design C Rummey, LA Corben, M Delatycki, G Wilmot, SH Subramony, M Corti, ... Neurology 99 (14), e1499-e1510, 2022 | 47 | 2022 |
| A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21 M Tetreault, A Duquette, I Thiffault, C Bherer, J Jarry, L Loisel, B Banwell, ... Brain 129 (8), 2077-2084, 2006 | 38 | 2006 |
| Similarities and differences in the pattern of tau hyperphosphorylation in physiological and pathological conditions: impacts on the elaboration of therapies to prevent tau … A Duquette, C Pernègre, A Veilleux Carpentier, N Leclerc Frontiers in Neurology 11, 607680, 2021 | 33 | 2021 |
| Clinical management guidelines for Friedreich ataxia: best practice in rare diseases LA Corben, V Collins, S Milne, J Farmer, A Musheno, D Lynch, ... Orphanet journal of rare diseases 17 (1), 415, 2022 | 27 | 2022 |
| Worldwide barriers to genetic testing for movement disorders EM Gatto, RH Walker, C Gonzalez, M Cesarini, G Cossu, CD Stephen, ... European journal of neurology 28 (6), 1901-1909, 2021 | 26 | 2021 |
| Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort C Rummey, JM Flynn, LA Corben, MB Delatycki, G Wilmot, ... Annals of clinical and translational neurology 8 (6), 1239-1250, 2021 | 23 | 2021 |
| Familial congenital mirror movements: report of a large 4-generation family M Srour, M Philibert, MH Dion, A Duquette, F Richer, GA Rouleau, ... Neurology 73 (9), 729-731, 2009 | 23 | 2009 |
| Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation SA Nahas, A Duquette, K Roddier, RA Gatti, B Brais Neuromuscular Disorders 17 (11-12), 968-969, 2007 | 17 | 2007 |
| Estimated prevalence of Niemann–Pick type C disease in Quebec M Labrecque, L Touma, C Bhérer, A Duquette, M Tétreault Scientific reports 11 (1), 22621, 2021 | 11 | 2021 |
| Consensus recommendations for clinical outcome assessments and registry development in ataxias: ataxia global initiative (AGI) working group expert guidance T Klockgether, M Synofzik The Cerebellum 23 (3), 924-930, 2024 | 9 | 2024 |
Claude BhérerAssistant Professor, Department of Human Genetics, McGill UniversityEmail được xác minh tại mcgill.ca
