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
Description
ISSN:1095-953X
DOI:10.1016/j.nbd.2019.104577