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Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
Rebelo, Adriana P; Eidhof, Ilse; Cintra, Vivian P; Guillot-Noel, Léna; Pereira, Claudia V; Timmann, Dagmar; Traschütz, Andreas; Schöls, Ludger; Coarelli, Giulia; Durr, Alexandra; Anheim, Mathieu; Tranchant, Christine; van de Warrenburg, Bart; Guissart, Claire; Koenig, Michel; Howell, Jack; Moraes, Carlos T; Schenck, Annette; Stevanin, Giovanni; Züchner, Stephan; Synofzik, Matthis.
Afiliação
  • Rebelo AP; 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, USA.
  • Eidhof I; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Cintra VP; 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, USA.
  • Guillot-Noel L; Sorbonne Université, Paris Brain Institute, AP-HP, INSERM, CNRS, Pitié-Salpêtrière University Hospital, Paris, France.
  • Pereira CV; Neurogenetics Team, EPHE, PSL University, Paris, France.
  • Timmann D; Departments of Neurology and Cell Biology, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Traschütz A; Department of Neurology, Essen University Hospital, University of Duisburg-Essen, Essen, Germany.
  • Schöls L; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Coarelli G; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
  • Durr A; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Anheim M; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
  • Tranchant C; Sorbonne Université, Paris Brain Institute, AP-HP, INSERM, CNRS, Pitié-Salpêtrière University Hospital, Paris, France.
  • van de Warrenburg B; Sorbonne Université, Paris Brain Institute, AP-HP, INSERM, CNRS, Pitié-Salpêtrière University Hospital, Paris, France.
  • Guissart C; Department of genetics, Hôpital de La Pitié-Salpétrière, Paris, France.
  • Koenig M; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Howell J; Institute of Genetics and Molecular and Cellular Biology, INSERM-U964/CNRS-UMR7104, University of Strasbourg, Illkirch, France.
  • Moraes CT; Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Schenck A; Institute of Genetics and Molecular and Cellular Biology, INSERM-U964/CNRS-UMR7104, University of Strasbourg, Illkirch, France.
  • Stevanin G; Department of Neurology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
  • Züchner S; EA7402 Institut Universitaire de Recherche Clinique and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, Montpellier, France.
  • Synofzik M; EA7402 Institut Universitaire de Recherche Clinique and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, Montpellier, France.
Brain ; 144(5): 1467-1481, 2021 06 22.
Article em En | MEDLINE | ID: mdl-33889951
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Estresse Oxidativo / Peroxirredoxina III Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Estresse Oxidativo / Peroxirredoxina III Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos