Your browser doesn't support javascript.
loading
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop, Martina; Kurzwelly, Delia; Wagner, Holger; Soehn, Anne S; Reichbauer, Jennifer; Tao, Feifei; Rattay, Tim W; Peitz, Michael; Rehbach, Kristina; Giorgetti, Alejandro; Pyle, Angela; Thiele, Holger; Altmüller, Janine; Timmann, Dagmar; Karaca, Ilker; Lennarz, Martina; Baets, Jonathan; Hengel, Holger; Synofzik, Matthis; Atasu, Burcu; Feely, Shawna; Kennerson, Marina; Stendel, Claudia; Lindig, Tobias; Gonzalez, Michael A; Stirnberg, Rüdiger; Sturm, Marc; Roeske, Sandra; Jung, Johanna; Bauer, Peter; Lohmann, Ebba; Herms, Stefan; Heilmann-Heimbach, Stefanie; Nicholson, Garth; Mahanjah, Muhammad; Sharkia, Rajech; Carloni, Paolo; Brüstle, Oliver; Klopstock, Thomas; Mathews, Katherine D; Shy, Michael E; de Jonghe, Peter; Chinnery, Patrick F; Horvath, Rita; Kohlhase, Jürgen; Schmitt, Ina; Wolf, Michael; Greschus, Susanne; Amunts, Katrin; Maier, Wolfgang.
Afiliación
  • Minnerop M; Institute of Neuroscience and Medicine (INM-1), Research Centre Juelich, 52425 Jülich, Germany.
  • Kurzwelly D; Department of Neurology, University of Bonn, 53127 Bonn, Germany.
  • Wagner H; Department of Neurology, University of Bonn, 53127 Bonn, Germany.
  • Soehn AS; German Center for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany.
  • Reichbauer J; Department of Psychiatry and Psychotherapy, University of Bonn, 53127 Bonn, Germany.
  • Tao F; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
  • Rattay TW; Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
  • Peitz M; German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
  • Rehbach K; 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, Florida 33136, USA.
  • Giorgetti A; Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
  • Pyle A; German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
  • Thiele H; German Center for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany.
  • Altmüller J; Institute of Reconstructive Neurobiology, Life and Brain Center, 53127 Bonn, Germany.
  • Timmann D; German Center for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany.
  • Karaca I; Institute of Reconstructive Neurobiology, Life and Brain Center, 53127 Bonn, Germany.
  • Lennarz M; Computational Biophysics, German Research School for Simulation Sciences, and Computational Biomedicine, Institute for Advanced Simulation (IAS-5) and Institute of Neuroscience and Medicine (INM-9), Research Centre Juelich, 52425 Jülich, Germany.
  • Baets J; Department of Biotechnology, University of Verona, 37134 Verona, Italy.
  • Hengel H; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Synofzik M; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany.
  • Atasu B; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany.
  • Feely S; Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany.
  • Kennerson M; Department of Neurology, University of Duisburg-Essen, 45147 Essen, Germany.
  • Stendel C; Department of Psychiatry and Psychotherapy, University of Bonn, 53127 Bonn, Germany.
  • Lindig T; Department of Psychiatry and Psychotherapy, University of Bonn, 53127 Bonn, Germany.
  • Gonzalez MA; Neurogenetics Group, VIB-Department of Molecular Genetics, VIB, 2610 Antwerp, Belgium.
  • Stirnberg R; Department of Neurology, Antwerp University Hospital, 2650 Antwerp, Belgium.
  • Sturm M; Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium.
  • Roeske S; Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
  • Jung J; German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
  • Bauer P; Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
  • Lohmann E; German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
  • Herms S; German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
  • Heilmann-Heimbach S; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
  • Nicholson G; Department of Neurology, University of Iowa, 52242 Iowa, USA.
  • Mahanjah M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord NSW 2139, Australia.
  • Sharkia R; Molecular Medicine Laboratory, Concord Hospital, Concord NSW 2139, Australia.
  • Carloni P; Sydney Medical School, University of Sydney, Sydney NSW 2006, Australia.
  • Brüstle O; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-Universität, 80336 Munich, Germany.
  • Klopstock T; German Center for Neurodegenerative Diseases (DZNE), 81337 Munich, Germany.
  • Mathews KD; Department of Diagnostic and Interventional Neuroradiology, University Hospital Tübingen, 72076 Tübingen, Germany.
  • Shy ME; 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, Florida 33136, USA.
  • de Jonghe P; German Center for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany.
  • Chinnery PF; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
  • Horvath R; German Center for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany.
  • Kohlhase J; German Center for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany.
  • Schmitt I; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
  • Wolf M; German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
  • Greschus S; Department of Neurology, Antwerp University Hospital, 2650 Antwerp, Belgium.
  • Amunts K; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.
  • Maier W; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Brain ; 140(6): 1561-1578, 2017 06 01.
Article en En | MEDLINE | ID: mdl-28459997
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: ARN Polimerasa III / Paraplejía Espástica Hereditaria / Atrofia Óptica / Ataxias Espinocerebelosas / Discapacidad Intelectual / Espasticidad Muscular Tipo de estudio: Prognostic_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Año: 2017 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: ARN Polimerasa III / Paraplejía Espástica Hereditaria / Atrofia Óptica / Ataxias Espinocerebelosas / Discapacidad Intelectual / Espasticidad Muscular Tipo de estudio: Prognostic_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Año: 2017 Tipo del documento: Article País de afiliación: Alemania