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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

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第一作者: Tim W,Rattay
第一单位: Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Tübingen, Germany.
作者单位: Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Tübingen, Germany. [1] German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany. [2] Department of Diagnostic and Interventional Neuroradiology, University Hospital Tübingen, Tübingen, Germany. [3] Neurogenetics Group, University of Antwerp, Antwerp, Belgium. [4] Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. [5] Department of Neurology, Antwerp University Hospital, Antwerp, Belgium. [6] Department of Medical Genetics, Institute of Human Genetics, University of Tübingen, Tübingen, Germany. [7] CeGaT GmbH, Tübingen, Germany. [8] Department of Psychiatry, University of Tübingen, Tübingen, Germany. [9] Department of Pediatric Neurology, University Children's Hospital, Tübingen, Germany. [10] Department of Orthopaedics and Trauma-Surgery, Medical University Vienna, Vienna, Austria. [11] Division of Child Neurology, University Childrens Hospital Zurich, Zurich, Switzerland. [12] Department of Pediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Germany. [13] Department of Neuropediatrics, Klinikum Kassel, Germany. [14] Department for Social Pediatrics, Kinderhospital Osnabrück, Germany. [15] Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. [16] Department of Neurology, University Hospital Ghent, Ghent, Belgium. [17] Department of Development and Regeneration, KU Leuven, Leuven, Belgium. [18] Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium. [19] CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain. [20] Neuroscience Area, Institute Biodonostia, and Department of Neurosciences, University of Basque Country EHU-UPV, San Sebastián, Spain. [21] Neurometabolic Diseases Laboratory, Institut d'Investigació Biomedica de Bellvitge IDIBELL, Hospital Duran i Reynals, Barcelona, 08908, Spain. [22] Centre for Biomedical Research on Rare Diseases (CIBERER), Institute Carlos III, Madrid, Spain. [23] Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain. [24] Scientific Institute IRCCS E. Medea, Laboratory of Molecular Biology, 23842 Bosisio Parini, Lecco, Italy. [25] Scientific Institute IRCCS E. Medea, Neuromuscular Unit, 23842 Bosisio Parini , Lecco, Italy. [26] John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL33136 Miami, USA. [27] Dr. John T. Macdonald Foundation, Department of Human Genetics, FL33136 Miami, USA. [28] CENTOGENE AG, Rostock, Germany. [29]
DOI 10.1093/brain/awz102
PMID 31135052
发布时间 2021-01-09
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Brain : a journal of neurology

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