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Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.

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Title: Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
Authors: 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.
Source: Neurobiology of disease [Neurobiol Dis] 2019 Dec; Vol. 132, pp. 104577. Date of Electronic Publication: 2019 Aug 16.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
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  Data: <searchLink fieldCode="AU" term="%22Arystarkhova+E%22">Arystarkhova E</searchLink>; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA. Electronic address: aristarkhova@helix.mgh.harvard.edu.<br /><searchLink fieldCode="AU" term="%22Haq+IU%22">Haq IU</searchLink>; Department of Neurology, Wake Forest School of Medicine, Winston-Salem, NC, USA.<br /><searchLink fieldCode="AU" term="%22Luebbert+T%22">Luebbert T</searchLink>; Section of Neurology, Department of Pediatrics, University of Colorado, Denver, CO, USA.<br /><searchLink fieldCode="AU" term="%22Mochel+F%22">Mochel F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Saunders-Pullman+R%22">Saunders-Pullman R</searchLink>; Icahn School of Medicine at Mount Sinai, NY, New York, USA.<br /><searchLink fieldCode="AU" term="%22Bressman+SB%22">Bressman SB</searchLink>; Icahn School of Medicine at Mount Sinai, NY, New York, USA.<br /><searchLink fieldCode="AU" term="%22Feschenko+P%22">Feschenko P</searchLink>; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Salazar+C%22">Salazar C</searchLink>; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Cook+JF%22">Cook JF</searchLink>; Department of Neurology, Wake Forest School of Medicine, Winston-Salem, NC, USA.<br /><searchLink fieldCode="AU" term="%22Demarest+S%22">Demarest S</searchLink>; Section of Neurology, Department of Pediatrics, University of Colorado, Denver, CO, USA.<br /><searchLink fieldCode="AU" term="%22Brashear+A%22">Brashear A</searchLink>; Department of Neurology, Wake Forest School of Medicine, Winston-Salem, NC, USA.<br /><searchLink fieldCode="AU" term="%22Ozelius+LJ%22">Ozelius LJ</searchLink>; Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA.<br /><searchLink fieldCode="AU" term="%22Sweadner+KJ%22">Sweadner KJ</searchLink>; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA. Electronic address: sweadner@helix.mgh.harvard.edu.
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  Data: <searchLink fieldCode="JN" term="%229500169%22">Neurobiology of disease</searchLink> [Neurobiol Dis] 2019 Dec; Vol. 132, pp. 104577. <i>Date of Electronic Publication: </i>2019 Aug 16.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9500169 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1095-953X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209699961%22">09699961 </searchLink><i>NLM ISO Abbreviation: </i>Neurobiol Dis <i>Subsets: </i>MEDLINE
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