요약정보
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
- Resource Type
- Academic Journal
- Authors
- Pellerin D; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.; Del Gobbo GF; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Couse M; Centre for Computational Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Dolzhenko E; Pacific Biosciences, Menlo Park, CA, USA.; Nageshwaran SK; Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Cheung WA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; Xu IRL; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Dicaire MJ; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Spurdens G; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Matos-Rodrigues G; Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD, USA.; Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, New South Wales, Australia.; Scriba CK; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.; Rebelo A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Roth V; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.; Wandzel M; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.; Bonnet C; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France.; Ashton C; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Agarwal A; Tisch Cancer Institute Bioinformatics for Next Generation Sequencing (BiNGS) Core, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Peter C; Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Hasson D; Tisch Cancer Institute Bioinformatics for Next Generation Sequencing (BiNGS) Core, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Tsankova NM; Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Dewar K; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Lamont PJ; Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia.; Laing NG; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.; Renaud M; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.; Service de Neurologie, CHRU de Nancy, Nancy, France.; Service de Génétique Clinique, CHRU de Nancy, Nancy, France.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.; Synofzik M; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Usdin K; Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.; Nussenzweig A; Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD, USA.; Napierala M; Department of Neurology, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Chen Z; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; Jiang H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.; Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.; Ravenscroft G; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.; Akbarian S; Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Eberle MA; Pacific Biosciences, Menlo Park, CA, USA.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Pastinen T; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA. m.danzi@med.miami.edu.
- Source
- Publisher:
Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN:10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE - Subject
- Language
- English