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Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
Arystarkhova, Elena; Haq, Ihtsham U; Luebbert, Timothy; Mochel, Fanny; Saunders-Pullman, Rachel; Bressman, Susan B; Feschenko, Polina; Salazar, Cynthia; Cook, Jared F; Demarest, Scott; Brashear, Allison; Ozelius, Laurie J; Sweadner, Kathleen J.
Afiliação
  • Arystarkhova E; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA. Electronic address: aristarkhova@helix.mgh.harvard.edu.
  • Haq IU; Department of Neurology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
  • Luebbert T; Section of Neurology, Department of Pediatrics, University of Colorado, Denver, CO, USA.
  • Mochel F; AP-HP, La Pitié-Salpêtrière University Hospital, Department of Genetics and Reference Center for Adult Neurometabolic Diseases, INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
  • Saunders-Pullman R; Icahn School of Medicine at Mount Sinai, NY, New York, USA.
  • Bressman SB; Icahn School of Medicine at Mount Sinai, NY, New York, USA.
  • Feschenko P; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.
  • Salazar C; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.
  • Cook JF; Department of Neurology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
  • Demarest S; Section of Neurology, Department of Pediatrics, University of Colorado, Denver, CO, USA.
  • Brashear A; Department of Neurology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
  • Ozelius LJ; Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA.
  • Sweadner KJ; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA. Electronic address: sweadner@helix.mgh.harvard.edu.
Neurobiol Dis ; 132: 104577, 2019 12.
Article em En | MEDLINE | ID: mdl-31425744
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: ATPase Trocadora de Sódio-Potássio / Distúrbios Distônicos / Hemiplegia Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged / Newborn Idioma: En Revista: Neurobiol Dis Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: ATPase Trocadora de Sódio-Potássio / Distúrbios Distônicos / Hemiplegia Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged / Newborn Idioma: En Revista: Neurobiol Dis Ano de publicação: 2019 Tipo de documento: Article