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De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel, Liedewei; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G; Klein, Katrin; Rautenberg, Maren; Guillot-Noël, Léna; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Brice, Alexis; Durr, Alexandra; Klebe, Stephan; Stock, Friedrich; Bischoff, Almut Turid; Rattay, Tim W; Sobrido, María-Jesús; De Michele, Giovanna; De Jonghe, Peter; Klopstock, Thomas; Lohmann, Katja; Zanni, Ginevra; Santorelli, Filippo M; Timmerman, Vincent; Haack, Tobias B; Züchner, Stephan; Schüle, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Basak, A Nazli; Baets, Jonathan.
Afiliación
  • Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
  • De Winter J; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Beijer D; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
  • Coarelli G; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Wayand M; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
  • Palvadeau R; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
  • Pauly MG; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Klein K; 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.
  • Rautenberg M; Sorbonne University, ICM-Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital, Paris, France.
  • Guillot-Noël L; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.
  • Deconinck T; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
  • Vural A; Koc University, School of Medicine, Suna and Inan Kirac Foundation, Istanbul, Turkey.
  • Ertan S; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany.
  • Dogu O; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
  • Uysal H; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
  • Brankovic V; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
  • Herzog R; Sorbonne University, ICM-Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital, Paris, France.
  • Brice A; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium.
  • Durr A; School of Medicine, Department of Neurology, Koc University, Istanbul, Turkey.
  • Klebe S; School of Medicine, Department of Neurology, Koc University, Istanbul, Turkey.
  • Stock F; Department of Neurology, School of Medicine, Mersin University, Mersin, Turkey.
  • Bischoff AT; Department of Neurology, School of Medicine, Akdeniz University, Antalya, Turkey.
  • Rattay TW; Clinic for Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia.
  • Sobrido MJ; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany.
  • De Michele G; Sorbonne University, ICM-Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital, Paris, France.
  • De Jonghe P; Sorbonne University, ICM-Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital, Paris, France.
  • Klopstock T; Department of Neurology, University Hospital Essen, Essen, Germany.
  • Lohmann K; Institute of Human Genetics, University Hospital Essen, Essen, Germany.
  • Zanni G; Department of Neurology, Friedrich-Baur-Institute, LMU Munich, Munich, Germany.
  • Santorelli FM; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.
  • Timmerman V; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
  • Haack TB; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain.
  • Züchner S; Neurogenetics Research Group, Instituto de Investigación Sanitaria (IDIS), Hospital Clínico Universitario, SERGAS, Santiago de Compostela, Spain.
  • Schüle R; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Stevanin G; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
  • Synofzik M; Department of Neurology, Friedrich-Baur-Institute, LMU Munich, Munich, Germany.
  • Basak AN; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
  • Baets J; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
Mov Disord ; 37(6): 1175-1186, 2022 06.
Article en En | MEDLINE | ID: mdl-35150594
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Proteínas Portadoras / Ataxia Cerebelosa / Discapacidad Intelectual / Proteínas de Microfilamentos Límite: Humans Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Bélgica
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Proteínas Portadoras / Ataxia Cerebelosa / Discapacidad Intelectual / Proteínas de Microfilamentos Límite: Humans Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Bélgica