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Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation.
Perez-Siles, Gonzalo; Ly, Carolyn; Grant, Adrienne; Drew, Alexander P; Yiu, Eppie M; Ryan, Monique M; Chuang, David T; Tso, Shih-Chia; Nicholson, Garth A; Kennerson, Marina L.
Affiliation
  • Perez-Siles G; Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia. Electronic address: gonzalo.perez-siles@sydney.edu.au.
  • Ly C; Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia.
  • Grant A; Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia.
  • Drew AP; Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia.
  • Yiu EM; Department of Neurology, Royal Children's Hospital, Flemington Road, Parkville, VIC, Australia; Neuroscience Research, Murdoch Childrens Research Institute, Melbourne, VIC, Australia; Department of Pediatrics, The University of Melbourne, VIC, Australia.
  • Ryan MM; Department of Neurology, Royal Children's Hospital, Flemington Road, Parkville, VIC, Australia; Neuroscience Research, Murdoch Childrens Research Institute, Melbourne, VIC, Australia; Department of Pediatrics, The University of Melbourne, VIC, Australia.
  • Chuang DT; Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Tso SC; Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Nicholson GA; Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
  • Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia. Electronic address: marina.kennerson@sydney.edu.a
Neurobiol Dis ; 94: 237-44, 2016 Oct.
Article in En | MEDLINE | ID: mdl-27388934
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Protein Serine-Threonine Kinases / Mitochondria / Mutation Limits: Humans Language: En Journal: Neurobiol Dis Journal subject: NEUROLOGIA Year: 2016 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Protein Serine-Threonine Kinases / Mitochondria / Mutation Limits: Humans Language: En Journal: Neurobiol Dis Journal subject: NEUROLOGIA Year: 2016 Type: Article