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NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Coutelier, Marie; Jacoupy, Maxime; Janer, Alexandre; Renaud, Flore; Auger, Nicolas; Saripella, Ganapathi-Varma; Ancien, François; Pucci, Fabrizio; Rooman, Marianne; Gilis, Dimitri; Larivière, Roxanne; Sgarioto, Nicolas; Valter, Rémi; Guillot-Noel, Léna; Le Ber, Isabelle; Sayah, Sabrina; Charles, Perrine; Nümann, Astrid; Pauly, Martje G; Helmchen, Christoph; Deininger, Natalie; Haack, Tobias B; Brais, Bernard; Brice, Alexis; Trégouët, David-Alexandre; El Hachimi, Khalid H; Shoubridge, Eric A; Durr, Alexandra; Stevanin, Giovanni.
Afiliação
  • Coutelier M; Sorbonne Université, Institut du Cerveau - Paris Brain Institute, ICM, INSERM U 1127, CNRS UMR 7225, APHP, Pitié-Salpêtrière University Hospital, 75013 Paris, France.
  • Jacoupy M; Sorbonne Université, Institut du Cerveau - Paris Brain Institute, ICM, INSERM U 1127, CNRS UMR 7225, APHP, Pitié-Salpêtrière University Hospital, 75013 Paris, France.
  • Janer A; Department of Human Genetics, McGill University, H3A 0C7 Montreal, Canada.
  • Renaud F; Montreal Neurological Institute, McGill University, H3A 2B4 Montreal, Canada.
  • Auger N; Department of Human Genetics, McGill University, H3A 0C7 Montreal, Canada.
  • Saripella GV; Montreal Neurological Institute, McGill University, H3A 2B4 Montreal, Canada.
  • Ancien F; CNRS UMR 9019, Gustave Roussy, Université Paris-Saclay, 94805 Villejuif, France.
  • Pucci F; Neurogenetics team, Ecole Pratique des Hautes Etudes (EPHE), Paris Sciences Lettres (PSL) Research University, 75014, Paris, France.
  • Rooman M; Sorbonne Université, Institut du Cerveau - Paris Brain Institute, ICM, INSERM U 1127, CNRS UMR 7225, APHP, Pitié-Salpêtrière University Hospital, 75013 Paris, France.
  • Gilis D; Neurogenetics team, Ecole Pratique des Hautes Etudes (EPHE), Paris Sciences Lettres (PSL) Research University, 75014, Paris, France.
  • Larivière R; ICAN Institute, Pitié-Salpêtrière University Hospital, INSERM, Sorbonne Université, 75013 Paris, France.
  • Sgarioto N; Computational Biology and Bioinformatics, Université libre de Bruxelles, 1050 Bruxelles, Belgium.
  • Valter R; Computational Biology and Bioinformatics, Université libre de Bruxelles, 1050 Bruxelles, Belgium.
  • Guillot-Noel L; Computational Biology and Bioinformatics, Université libre de Bruxelles, 1050 Bruxelles, Belgium.
  • Le Ber I; Computational Biology and Bioinformatics, Université libre de Bruxelles, 1050 Bruxelles, Belgium.
  • Sayah S; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, H3A 2B4 Montreal, Canada.
  • Charles P; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, H3A 2B4 Montreal, Canada.
  • Nümann A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute, ICM, INSERM U 1127, CNRS UMR 7225, APHP, Pitié-Salpêtrière University Hospital, 75013 Paris, France.
  • Pauly MG; Neurogenetics team, Ecole Pratique des Hautes Etudes (EPHE), Paris Sciences Lettres (PSL) Research University, 75014, Paris, France.
  • Helmchen C; Sorbonne Université, Institut du Cerveau - Paris Brain Institute, ICM, INSERM U 1127, CNRS UMR 7225, APHP, Pitié-Salpêtrière University Hospital, 75013 Paris, France.
  • Deininger N; Neurogenetics team, Ecole Pratique des Hautes Etudes (EPHE), Paris Sciences Lettres (PSL) Research University, 75014, Paris, France.
  • Haack TB; Sorbonne Université, Institut du Cerveau - Paris Brain Institute, ICM, INSERM U 1127, CNRS UMR 7225, APHP, Pitié-Salpêtrière University Hospital, 75013 Paris, France.
  • Brais B; Sorbonne Université, Institut du Cerveau - Paris Brain Institute, ICM, INSERM U 1127, CNRS UMR 7225, APHP, Pitié-Salpêtrière University Hospital, 75013 Paris, France.
  • Brice A; Department of Genetics, APHP, Pitié-Salpêtrière University Hospital, 75013 Paris, France.
  • Trégouët DA; Department of Neurology, Charité University Hospital Berlin, 10117 Berlin, Germany.
  • El Hachimi KH; Department of Neurology, University Hospital Schleswig Holstein Campus Luebeck, 23562 Luebeck, Germany.
  • Shoubridge EA; Institute of Neurogenetics, University of Luebeck, 23562 Luebeck, Germany.
  • Durr A; Department of Neurology, University Hospital Schleswig Holstein Campus Luebeck, 23562 Luebeck, Germany.
  • Stevanin G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tuebingen, Germany.
Brain ; 145(4): 1519-1534, 2022 05 24.
Article em En | MEDLINE | ID: mdl-34788392
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteína C-Reativa / Ataxia Cerebelar / Estresse do Retículo Endoplasmático / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteína C-Reativa / Ataxia Cerebelar / Estresse do Retículo Endoplasmático / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França