Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia

遗传性痉挛性截瘫 生病的孩子 医学 编年史 大学医院 老年学 家庭医学 儿科 图书馆学 历史 生物 计算机科学 生物化学 基因 表型 古代史
作者
Mehrdad A. Estiar,Gurnoor Lail,David A. Dyment,Parizad Varghaei,Taila Hartley,Meredith Gillespie,Grace Yoon,Kym M. Boycott,Guy A. Rouleau,Ziv Gan‐Or
出处
期刊:Annals of Neurology [Wiley]
卷期号:91 (5): 730-732 被引量:1
标识
DOI:10.1002/ana.26275
摘要

Annals of NeurologyEarly View Letter to the Editor Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia Mehrdad A. Estiar MSc, Mehrdad A. Estiar MSc Department of Human Genetics, McGill University, Montréal, Quebec, Canada The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, CanadaSearch for more papers by this authorNoor Lail MD, Noor Lail MD Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, CanadaSearch for more papers by this authorDavid A. Dyment DPhil, MD, David A. Dyment DPhil, MD Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, CanadaSearch for more papers by this authorParizad Varghaei MD, MSc, Parizad Varghaei MD, MSc The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada Division of Experimental Medicine, Department of Medicine, McGill University, Montréal, Quebec, CanadaSearch for more papers by this authorTaila Hartley MSc, Taila Hartley MSc Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, CanadaSearch for more papers by this authorMeredith K. Gillespie MSc, Meredith K. Gillespie MSc Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, CanadaSearch for more papers by this authorGrace Yoon MD, Grace Yoon MD Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada Division of Neurology, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, CanadaSearch for more papers by this authorKym M. Boycott MD, PhD, Kym M. Boycott MD, PhD Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, CanadaSearch for more papers by this authorGuy A. Rouleau MD, PhD, Guy A. Rouleau MD, PhD orcid.org/0000-0001-8403-1418 Department of Human Genetics, McGill University, Montréal, Quebec, Canada The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, CanadaSearch for more papers by this authorZiv Gan-Or MD, PhD, Corresponding Author Ziv Gan-Or MD, PhD guy.rouleau@mcgill.ca ziv.gan-or@mcgill.ca orcid.org/0000-0003-0332-234X Department of Human Genetics, McGill University, Montréal, Quebec, Canada The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada Address correspondence to Dr Guy A. Rouleau, Director, The Neuro (Montréal Neurological Institute and Hospital), 3801 University Street, Office 636, Montréal, Quebec H3A 2B4, Canada. E-mail: guy.rouleau@mcgill.ca Dr Ziv Gan-Or, Department of Neurology and Neurosurgery, McGill University, 1033 Pine Avenue, West, Ludmer Pavilion, Room 312, Montreal, Quebec H3A 1A1, Canada. E-mail: ziv.gan-or@mcgill.caSearch for more papers by this author Mehrdad A. Estiar MSc, Mehrdad A. Estiar MSc Department of Human Genetics, McGill University, Montréal, Quebec, Canada The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, CanadaSearch for more papers by this authorNoor Lail MD, Noor Lail MD Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, CanadaSearch for more papers by this authorDavid A. Dyment DPhil, MD, David A. Dyment DPhil, MD Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, CanadaSearch for more papers by this authorParizad Varghaei MD, MSc, Parizad Varghaei MD, MSc The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada Division of Experimental Medicine, Department of Medicine, McGill University, Montréal, Quebec, CanadaSearch for more papers by this authorTaila Hartley MSc, Taila Hartley MSc Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, CanadaSearch for more papers by this authorMeredith K. Gillespie MSc, Meredith K. Gillespie MSc Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, CanadaSearch for more papers by this authorGrace Yoon MD, Grace Yoon MD Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada Division of Neurology, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, CanadaSearch for more papers by this authorKym M. Boycott MD, PhD, Kym M. Boycott MD, PhD Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, CanadaSearch for more papers by this authorGuy A. Rouleau MD, PhD, Guy A. Rouleau MD, PhD orcid.org/0000-0001-8403-1418 Department of Human Genetics, McGill University, Montréal, Quebec, Canada The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, CanadaSearch for more papers by this authorZiv Gan-Or MD, PhD, Corresponding Author Ziv Gan-Or MD, PhD guy.rouleau@mcgill.ca ziv.gan-or@mcgill.ca orcid.org/0000-0003-0332-234X Department of Human Genetics, McGill University, Montréal, Quebec, Canada The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Quebec, Canada Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada Address correspondence to Dr Guy A. Rouleau, Director, The Neuro (Montréal Neurological Institute and Hospital), 3801 University Street, Office 636, Montréal, Quebec H3A 2B4, Canada. E-mail: guy.rouleau@mcgill.ca Dr Ziv Gan-Or, Department of Neurology and Neurosurgery, McGill University, 1033 Pine Avenue, West, Ludmer Pavilion, Room 312, Montreal, Quebec H3A 1A1, Canada. E-mail: ziv.gan-or@mcgill.caSearch for more papers by this author First published: 25 November 2021 https://doi.org/10.1002/ana.26275Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Early ViewOnline Version of Record before inclusion in an issue RelatedInformation
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