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Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
Charlesworth, Gavin; Angelova, Plamena R; Bartolomé-Robledo, Fernando; Ryten, Mina; Trabzuni, Daniah; Stamelou, Maria; Abramov, Andrey Y; Bhatia, Kailash P; Wood, Nicholas W.
Afiliação
  • Charlesworth G; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Angelova PR; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Bartolomé-Robledo F; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Ryten M; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Medical and Molecular Genetics, King's College London, London WC2R 2LS, UK.
  • Trabzuni D; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Genetics, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Saudi Arabia.
  • Stamelou M; Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Second Department of Neurology, University of Athens, Iras 39, Gerakas Attikis, Athens 15344, Greece; Movement Disorders Department, Hygeia Hospital, 4 Eyrthrou Stravou Stre
  • Abramov AY; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Bhatia KP; Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; UCL Genetics Institute, London WC1E 6BT, UK. Electronic address: k.bhatia@ucl.ac.uk.
  • Wood NW; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; UCL Genetics Institute, London WC1E 6BT, UK. Electronic address: n.wood@
Am J Hum Genet ; 96(4): 657-65, 2015 Apr 02.
Article em En | MEDLINE | ID: mdl-25799108
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distonia / Hipocalcina / Genes Recessivos / Mutação Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distonia / Hipocalcina / Genes Recessivos / Mutação Idioma: En Ano de publicação: 2015 Tipo de documento: Article