首页> Brain : a journal of neurology> POLR3A variants in hereditary spastic paraplegia and ataxia.

POLR3A variants in hereditary spastic paraplegia and ataxia.

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第一作者： Laurence,Gauquelin

第一单位： Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada.;Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada.

作者： Laurence,Gauquelin ^[1] ; Martine,Tétreault ^[2] ; Isabelle,Thiffault ^[3] ; Emily,Farrow ^[3] ; Neil,Miller ^[3] ; Byunggil,Yoo ^[3] ; Eric,Bareke ^[2] ; Grace,Yoon ^[4] ; Oksana,Suchowersky ^[5] ; Nicolas,Dupré ^[6] ; Mark,Tarnopolsky ^[7] ; Bernard,Brais ^[8] ; Nicole I,Wolf ^[9] ; Jacek,Majewski ^[2] ; Guy A,Rouleau ^[10] ; Ziv,Gan-Or ^[8] ; Geneviève,Bernard ^[11]

作者单位： Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada.;Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada. ^[1] Department of Human Genetics, McGill University, Montreal, Canada.;Genome Quebec Innovation Centre, Montreal, Canada. ^[2] Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA. ^[3] Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.;Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Canada. ^[4] Departments of Medicine (Neurology) and Medical Genetics, University of Alberta, Edmonton, Canada. ^[5] Neuroscience Division, CHU de Québec - Université Laval and the Department of Medicine, Faculty of Medicine, Laval University, Quebec City, Canada. ^[6] Department of Pediatrics and Medicine, McMaster University, Hamilton, Canada. ^[7] Department of Human Genetics, McGill University, Montreal, Canada.;Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada. ^[8] Department of Child Neurology, VU University Medical Center, and Amsterdam Neuroscience, Amsterdam, The Netherlands. ^[9] Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada. ^[10] Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada.;Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada.;Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.;Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada. ^[11]