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Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease.
Ward, Jacqueline M; Stoyas, Colleen A; Switonski, Pawel M; Ichou, Farid; Fan, Weiwei; Collins, Brett; Wall, Christopher E; Adanyeguh, Isaac; Niu, Chenchen; Sopher, Bryce L; Kinoshita, Chizuru; Morrison, Richard S; Durr, Alexandra; Muotri, Alysson R; Evans, Ronald M; Mochel, Fanny; La Spada, Albert R.
Afiliação
  • Ward JM; Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA.
  • Stoyas CA; Department of Neurology, Duke University School of Medicine, Durham, NC 27710, USA.
  • Switonski PM; Department of Neurology, Duke University School of Medicine, Durham, NC 27710, USA; Department of Molecular Biomedicine, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14 Str., 61-704 Poznan, Poland.
  • Ichou F; Metabolomics Core Facility, Institute of Cardiometabolism and Nutrition, ICAN, Paris, France.
  • Fan W; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
  • Collins B; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
  • Wall CE; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
  • Adanyeguh I; ICM, Sorbonne Université, UPMC-Paris 6, UMR S 1127 / INSERM U 1127 / CNRS UMR 7225 / ICM, 75013, Paris, France.
  • Niu C; Department of Neurology, Duke University School of Medicine, Durham, NC 27710, USA.
  • Sopher BL; Department of Neurology, University of Washington, Seattle, WA 98195, USA.
  • Kinoshita C; Department of Neurosurgery, University of Washington, Seattle, WA 98195, USA.
  • Morrison RS; Department of Neurosurgery, University of Washington, Seattle, WA 98195, USA.
  • Durr A; ICM, Sorbonne Université, UPMC-Paris 6, UMR S 1127 / INSERM U 1127 / CNRS UMR 7225 / ICM, 75013, Paris, France; Department of Genetics, APHP, La Pitie-Salpêtriere University Hospital, Paris, France.
  • Muotri AR; Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA; Department Cellular & Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
  • Evans RM; Metabolomics Core Facility, Institute of Cardiometabolism and Nutrition, ICAN, Paris, France; Howard Hughes Medical Institute, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
  • Mochel F; ICM, Sorbonne Université, UPMC-Paris 6, UMR S 1127 / INSERM U 1127 / CNRS UMR 7225 / ICM, 75013, Paris, France; Department of Genetics, APHP, La Pitie-Salpêtriere University Hospital, Paris, France.
  • La Spada AR; Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA; Department Cellular & Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Division of B
Cell Rep ; 26(5): 1189-1202.e6, 2019 01 29.
Article em En | MEDLINE | ID: mdl-30699348
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Organelas / Ataxias Espinocerebelares / Doenças Mitocondriais Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Cell Rep Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Organelas / Ataxias Espinocerebelares / Doenças Mitocondriais Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Cell Rep Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos