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Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.
Zanni, Ginevra; De Magistris, P; Nardella, M; Bellacchio, E; Barresi, S; Sferra, A; Ciolfi, A; Motta, M; Lue, H; Moreno-Andres, D; Tartaglia, M; Bertini, E; Antonin, Wolfram.
Afiliação
  • Zanni G; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy. ginevra.zanni@opbg.net.
  • De Magistris P; Institute of Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, 52074, Aachen, Germany.
  • Nardella M; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
  • Bellacchio E; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
  • Barresi S; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
  • Sferra A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
  • Motta M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
  • Lue H; Institute of Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, 52074, Aachen, Germany.
  • Moreno-Andres D; Institute of Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, 52074, Aachen, Germany.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
  • Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
  • Antonin W; Institute of Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, 52074, Aachen, Germany. wantonin@ukaachen.de.
Cerebellum ; 18(3): 422-432, 2019 Jun.
Article em En | MEDLINE | ID: mdl-30741391
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Complexo de Proteínas Formadoras de Poros Nucleares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Revista: Cerebellum Assunto da revista: CEREBRO Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália
Texto completo
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Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Complexo de Proteínas Formadoras de Poros Nucleares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Revista: Cerebellum Assunto da revista: CEREBRO Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália