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POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.
Van Maldergem, Lionel; Besse, Arnaud; De Paepe, Boel; Blakely, Emma L; Appadurai, Vivek; Humble, Margaret M; Piard, Juliette; Craig, Kate; He, Langping; Hella, Pierre; Debray, François-Guillaume; Martin, Jean-Jacques; Gaussen, Marion; Laloux, Patrice; Stevanin, Giovanni; Van Coster, Rudy; Taylor, Robert W; Copeland, William C; Mormont, Eric; Bonnen, Penelope E.
Afiliación
  • Van Maldergem L; Centre de génétique humaine Université de Franche-Comté Besançon France; Metabolic Unit Centre of Human Genetics University Hospital Liège Belgium.
  • Besse A; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
  • De Paepe B; Department of Pediatrics Division of Child Neurology & Metabolism Ghent University Hospital Belgium.
  • Blakely EL; Wellcome Trust Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
  • Appadurai V; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
  • Humble MM; Mitochondrial DNA Replication Group National Institute of Environmental Health Sciences Durham North Carolina.
  • Piard J; Centre de génétique humaine Université de Franche-Comté Besançon France.
  • Craig K; Wellcome Trust Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
  • He L; Wellcome Trust Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
  • Hella P; Department of Neurology Sambre and Meuse Regional Hospital Namur Belgium.
  • Debray FG; Metabolic Unit Centre of Human Genetics University Hospital Liège Belgium.
  • Martin JJ; Born-Bunge Foundation University of Antwerp Belgium.
  • Gaussen M; Inserm U1127 CNRS UMR 7225 Sorbonne Universités UPMC Paris France; Institut du Cerveau et de la Moelle épinière Hopital Pitié-Salpêtrière Paris France; Ecole Pratique des Hautes Etudes PSL Université Laboratoire de neurogénétique F-75013 Paris France.
  • Laloux P; Université catholique de Louvain CHU UCL Namur Department of Neurology B5530 Yvoir Belgium; UCL Institute of Neuroscience (IoNS) B1200 Brussels Belgium.
  • Stevanin G; Inserm U1127 CNRS UMR 7225 Sorbonne Universités UPMC Paris France; Institut du Cerveau et de la Moelle épinière Hopital Pitié-Salpêtrière Paris France; Ecole Pratique des Hautes Etudes PSL Université Laboratoire de neurogénétique F-75013 Paris France.
  • Van Coster R; Department of Pediatrics Division of Child Neurology & Metabolism Ghent University Hospital Belgium.
  • Taylor RW; Wellcome Trust Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
  • Copeland WC; Mitochondrial DNA Replication Group National Institute of Environmental Health Sciences Durham North Carolina.
  • Mormont E; Université catholique de Louvain CHU UCL Namur Department of Neurology B5530 Yvoir Belgium; UCL Institute of Neuroscience (IoNS) B1200 Brussels Belgium.
  • Bonnen PE; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
Ann Clin Transl Neurol ; 4(1): 4-14, 2017 01.
Article en En | MEDLINE | ID: mdl-28078310
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: Ann Clin Transl Neurol Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: Ann Clin Transl Neurol Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos