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Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Huin, Vincent; Barbier, Mathieu; Bottani, Armand; Lobrinus, Johannes Alexander; Clot, Fabienne; Lamari, Foudil; Chat, Laureen; Rucheton, Benoît; Fluchère, Frédérique; Auvin, Stéphane; Myers, Peter; Gelot, Antoinette; Camuzat, Agnès; Caillaud, Catherine; Jornéa, Ludmila; Forlani, Sylvie; Saracino, Dario; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra; Le Ber, Isabelle.
Afiliación
  • Huin V; Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Barbier M; Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Bottani A; Department of Genetic Medicine, University Hospital of Geneva, Geneva, Switzerland.
  • Lobrinus JA; Neuropathology Unit, University Hospital of Geneva, Geneva, Switzerland.
  • Clot F; Department of Molecular and Cellular Neurogenetics, AP-HP, Pitié-Salpêtrière - Charles Foix University Hospitals, Paris, France.
  • Lamari F; AP-HP, Metabolic Biochemistry Unit, Department of Biochemistry of Neurometabolic Diseases, Pitié-Salpêtrière University Hospital, Paris, France.
  • Chat L; Department of Molecular and Cellular Neurogenetics, AP-HP, Pitié-Salpêtrière - Charles Foix University Hospitals, Paris, France.
  • Rucheton B; AP-HP, Metabolic Biochemistry Unit, Department of Biochemistry of Neurometabolic Diseases, Pitié-Salpêtrière University Hospital, Paris, France.
  • Fluchère F; AP-HM, Department of Neurology and Movement Disorders, La Timone, Clinical Neuroscience Unit, Aix-Marseille University, France.
  • Auvin S; AP-HP Department of Pediatric Neurology, Robert Debré University Hospital, F, Paris, France.
  • Myers P; Medical Office, Geneva, Switzerland.
  • Gelot A; Neuropathology, Department of Pathology, Trusseau Hospital, AP-HP, Paris, France and INMED INSERM U901 Luminy Campus, Aix-Marseille University, France.
  • Camuzat A; Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Caillaud C; Biochemical, Metabolomical and Proteonomical Department, Necker-Enfants Malades University Hospital, AP-HP, F-75015 Paris, France.
  • Jornéa L; Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Forlani S; Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Saracino D; Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Duyckaerts C; Department of Neuropathology 'Escourolle', AP-HP, Pitié-Salpêtrière University Hospital, Paris, France.
  • Brice A; Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
  • Durr A; AP-HP, National Reference Center for Rare Diseases 'Neurogenetics', Pitié-Salpêtrière University Hospital, Paris, France.
  • Le Ber I; Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
Brain ; 143(1): 303-319, 2020 01 01.
Article en En | MEDLINE | ID: mdl-31855245
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Parkinsonianos / Demencia Frontotemporal / Progranulinas / Lipofuscinosis Ceroideas Neuronales Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Año: 2020 Tipo del documento: Article País de afiliación: Francia
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Parkinsonianos / Demencia Frontotemporal / Progranulinas / Lipofuscinosis Ceroideas Neuronales Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Año: 2020 Tipo del documento: Article País de afiliación: Francia