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Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.
Edelman, William C; Kiianitsa, Kostantin; Virmani, Tuhin; Martinez, Refugio A; Young, Jessica E; Keene, C Dirk; Bird, Thomas D; Raskind, Wendy H; Korvatska, Olena.
Affiliation
  • Edelman WC; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
  • Kiianitsa K; Department of Immunology, University of Washington, Seattle, WA, USA.
  • Virmani T; Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
  • Martinez RA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA.
  • Young JE; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA.
  • Keene CD; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.
  • Bird TD; Department of Neurology, University of Washington, Seattle, WA, USA; Geriatric Research, Education and Clinical Center (GRECC), VA Puget Sound Medical Center, Seattle, WA, USA.
  • Raskind WH; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, USA; Mental Illness Research, Education and Clinical Center (MIRECC), VA Puget Sound Medical Center, Seattle, WA, USA
  • Korvatska O; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, USA; Mental Illness Research, Education and Clinical Center (MIRECC), VA Puget Sound Medical Center, Seattle, WA, USA. Electronic address: ok5@uw.edu.
Parkinsonism Relat Disord ; 101: 31-38, 2022 08.
Article in En | MEDLINE | ID: mdl-35779466
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Cell Surface / Parkinsonian Disorders / Vacuolar Proton-Translocating ATPases Limits: Humans / Male Language: En Journal: Parkinsonism Relat Disord Journal subject: NEUROLOGIA Year: 2022 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Cell Surface / Parkinsonian Disorders / Vacuolar Proton-Translocating ATPases Limits: Humans / Male Language: En Journal: Parkinsonism Relat Disord Journal subject: NEUROLOGIA Year: 2022 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido