De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
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| Title: | De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. |
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| Authors: | Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., De Winter J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Beijer D; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Dr John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Coarelli G; Sorbonne University, ICM-Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital, Paris, France., Wayand M; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Palvadeau R; Koc University, School of Medicine, Suna and Inan Kirac Foundation, Istanbul, Turkey., Pauly MG; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany.; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Klein K; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Rautenberg M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany., Guillot-Noël L; Sorbonne University, ICM-Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital, Paris, France., Deconinck T; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium., Vural A; School of Medicine, Department of Neurology, Koc University, Istanbul, Turkey., Ertan S; School of Medicine, Department of Neurology, Koc University, Istanbul, Turkey., Dogu O; Department of Neurology, School of Medicine, Mersin University, Mersin, Turkey., Uysal H; Department of Neurology, School of Medicine, Akdeniz University, Antalya, Turkey., Brankovic V; Clinic for Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia., Herzog R; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany., Brice A; Sorbonne University, ICM-Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital, Paris, France., Durr A; Sorbonne University, ICM-Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital, Paris, France., Klebe S; Department of Neurology, University Hospital Essen, Essen, Germany., Stock F; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Bischoff AT; Department of Neurology, Friedrich-Baur-Institute, LMU Munich, Munich, Germany., Rattay TW; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Sobrido MJ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain.; Neurogenetics Research Group, Instituto de Investigación Sanitaria (IDIS), Hospital Clínico Universitario, SERGAS, Santiago de Compostela, Spain., De Michele G; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy., De Jonghe P; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Klopstock T; Department of Neurology, Friedrich-Baur-Institute, LMU Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy., Santorelli FM; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy., Timmerman V; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Züchner S; Dr John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Schüle R; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Stevanin G; Sorbonne University, ICM-Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital, Paris, France.; Paris Sciences Lettres Research University, Ecole Pratique des Hautes Etudes, Paris, France., Synofzik M; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Basak AN; Koc University, School of Medicine, Suna and Inan Kirac Foundation, Istanbul, Turkey., Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium. |
| Corporate Authors: | PREPARE Consortium |
| Source: | Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Jun; Vol. 37 (6), pp. 1175-1186. Date of Electronic Publication: 2022 Feb 12. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1531-8257 |
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| DOI: | 10.1002/mds.28959 |
