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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-35779466
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de Superfície Celular / Transtornos Parkinsonianos / ATPases Vacuolares Próton-Translocadoras Limite: Humans / Male Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de Superfície Celular / Transtornos Parkinsonianos / ATPases Vacuolares Próton-Translocadoras Limite: Humans / Male Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos