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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux, Thomas; Barbier, Mathieu; Papin, Mélanie; Davoine, Claire-Sophie; Sayah, Sabrina; Coarelli, Giulia; Charles, Perrine; Marelli, Cecilia; Parodi, Livia; Tranchant, Christine; Goizet, Cyril; Klebe, Stephan; Lohmann, Ebba; Van Maldergem, Lionel; van Broeckhoven, Christine; Coutelier, Marie; Tesson, Christelle; Stevanin, Giovanni; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra.
Afiliação
  • Roux T; Sorbonne Université, Institut du Cerveau-Paris Brain Institute (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Barbier M; Sorbonne Université, Institut du Cerveau-Paris Brain Institute (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Papin M; Sorbonne Université, Institut du Cerveau-Paris Brain Institute (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Davoine CS; EPHE, PSL Research University, Neurogenetics Group, Paris, France.
  • Sayah S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Coarelli G; EPHE, PSL Research University, Neurogenetics Group, Paris, France.
  • Charles P; Sorbonne Université, Institut du Cerveau-Paris Brain Institute (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Marelli C; Sorbonne Université, Institut du Cerveau-Paris Brain Institute (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Parodi L; Genetic Department, University Hospital Pitié-Salpêtrière, AP-HP, Paris, France.
  • Tranchant C; Expert center for Neurogenetic Diseases, Department of Neurology, CHU Gui de Chauliac, MMDN, Univ Montpellier, INSERM, EPHE, Montpellier, France.
  • Goizet C; Sorbonne Université, Institut du Cerveau-Paris Brain Institute (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Klebe S; Neurological Department University Hospital Strasbourg, Strasbourg, France.
  • Lohmann E; University Bordeaux, Laboratoire MRGM, INSERM U1211, Centre de Référence Neurogénétique, Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
  • Van Maldergem L; University Hospital Essen, Department of Neurology, Essen, Germany.
  • van Broeckhoven C; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Coutelier M; Université de Franche-Comté, Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Besançon, France.
  • Tesson C; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, Laboratory of Neurogenetics, Institute Born-Bunge and Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
  • Stevanin G; Sorbonne Université, Institut du Cerveau-Paris Brain Institute (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Duyckaerts C; EPHE, PSL Research University, Neurogenetics Group, Paris, France.
  • Brice A; Sorbonne Université, Institut du Cerveau-Paris Brain Institute (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Durr A; Sorbonne Université, Institut du Cerveau-Paris Brain Institute (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
Genet Med ; 22(11): 1851-1862, 2020 11.
Article em En | MEDLINE | ID: mdl-32713943
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Ataxias Espinocerebelares / Disfunção Cognitiva Limite: Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Ataxias Espinocerebelares / Disfunção Cognitiva Limite: Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article