Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
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Published:2023-01-12
Issue:2
Volume:388
Page:128-141
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ISSN:0028-4793
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Container-title:New England Journal of Medicine
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language:en
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Short-container-title:N Engl J Med
Author:
Pellerin David1ORCID, Danzi Matt C.1, Wilke Carlo1ORCID, Renaud Mathilde1, Fazal Sarah1, Dicaire Marie-Josée1, Scriba Carolin K.1, Ashton Catherine1, Yanick Christopher1, Beijer Danique1ORCID, Rebelo Adriana1, Rocca Clarissa1, Jaunmuktane Zane1, Sonnen Joshua A.1, Larivière Roxanne1, Genís David1, Molina Porcel Laura1, Choquet Karine1, Sakalla Rawan1, Provost Sylvie1, Robertson Rebecca1, Allard-Chamard Xavier1, Tétreault Martine1, Reiling Sarah J.1ORCID, Nagy Sara1, Nishadham Vikas1, Purushottam Meera1, Vengalil Seena1, Bardhan Mainak1ORCID, Nalini Atchayaram1, Chen Zhongbo1, Mathieu Jean1, Massie Rami1, Chalk Colin H.1, Lafontaine Anne-Louise1, Evoy François1, Rioux Marie-France1, Ragoussis Jiannis1, Boycott Kym M.1, Dubé Marie-Pierre1, Duquette Antoine1, Houlden Henry1, Ravenscroft Gianina1, Laing Nigel G.1, Lamont Phillipa J.1, Saporta Mario A.1, Schüle Rebecca1, Schöls Ludger1, La Piana Roberta1, Synofzik Matthis1ORCID, Zuchner Stephan1, Brais Bernard1
Affiliation:
1. From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D...
Funder
Ontario Research Fund Génome Québec Children’s Hospital of Eastern Ontario Foundation National Institute of Neurological Disorders and Stroke Canada Foundation for Innovation Else Kröner-Fresenius-Stiftung European Union’s Horizon 2020 research and innovation programme Bundesministerium für Bildung und Forschung MRFF Genomics Future Health Mission Fondation Groupe Monaco Fondation de l’Hôpital Général de Montréal Canadian Institutes of Health Research Genome Canada Ontario Genomics Institute
Publisher
Massachusetts Medical Society
Cited by
62 articles.
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