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Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.
Zanni, Ginevra; Hsiao, Cheng-Tsung; Fu, Ssu-Ju; Tang, Chih-Yung; Capuano, Alessandro; Bosco, Luca; Graziola, Federica; Bellacchio, Emanuele; Servidei, Serenella; Primiano, Guido; Soong, Bing-Wen; Jeng, Chung-Jiuan.
Afiliación
  • Zanni G; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, B. Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
  • Hsiao CT; Department of Physiology, College of Medicine, National Taiwan University, Taipei 100, Taiwan.
  • Fu SJ; Department of Neurology, School of Medicine, National Yang Ming Chiao Tung University College of Medicine, Taipei 112, Taiwan.
  • Tang CY; Department of Neurology, Taipei Veterans General Hospital, Taipei 112, Taiwan.
  • Capuano A; Department of Physiology, College of Medicine, National Taiwan University, Taipei 100, Taiwan.
  • Bosco L; Institute of Anatomy and Cell Biology, College of Medicine, National Yang Ming Chiao Tung University, Taipei 112, Taiwan.
  • Graziola F; Department of Physiology, College of Medicine, National Taiwan University, Taipei 100, Taiwan.
  • Bellacchio E; Unit of Neurology, B. Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
  • Servidei S; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, B. Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
  • Primiano G; Department of Sciences, University Roma Tre, Viale Marconi 446, 00146 Rome, Italy.
  • Soong BW; Unit of Neurology, B. Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
  • Jeng CJ; Genetics and Rare Diseases Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Int J Mol Sci ; 22(9)2021 05 07.
Article en En | MEDLINE | ID: mdl-34067185
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Activación del Canal Iónico / Ataxias Espinocerebelosas / Canales de Potasio Shal / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Int J Mol Sci Año: 2021 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Activación del Canal Iónico / Ataxias Espinocerebelosas / Canales de Potasio Shal / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Int J Mol Sci Año: 2021 Tipo del documento: Article