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Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
Travaglini, Lorena; Nardella, Marta; Bellacchio, Emanuele; D'Amico, Adele; Capuano, Alessandro; Frusciante, Roberto; Di Capua, Matteo; Cusmai, Raffaella; Barresi, Sabina; Morlino, Silvia; Fernández-Fernández, José M; Trivisano, Marina; Specchio, Nicola; Valeriani, Massimiliano; Vigevano, Federico; Bertini, Enrico; Zanni, Ginevra.
Affiliation
  • Travaglini L; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Nardella M; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bellacchio E; Research Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Capuano A; Department of Neurosciences, Unit of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Frusciante R; Department of Neurosciences, Unit of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Di Capua M; Department of Neurosciences, Unit of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Cusmai R; Department of Neurosciences, Unit of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Barresi S; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Morlino S; Unit of Medical Genetics, San Camillo-Forlanini Hospital, Rome, Italy.
  • Fernández-Fernández JM; Laboratori de Fisiologia Molecular i Canalopaties, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain.
  • Trivisano M; Department of Neurosciences, Unit of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Specchio N; Department of Neurosciences, Unit of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Valeriani M; Department of Neurosciences, Unit of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Vigevano F; Department of Neurosciences, Unit of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Zanni G; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: ginevra.zanni@opbg.net.
Eur J Paediatr Neurol ; 21(3): 450-456, 2017 May.
Article in En | MEDLINE | ID: mdl-28007337
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ataxia / Cerebellum / Mutation, Missense / Calcium Channels, N-Type Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2017 Document type: Article Affiliation country: Italia Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ataxia / Cerebellum / Mutation, Missense / Calcium Channels, N-Type Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2017 Document type: Article Affiliation country: Italia Country of publication: Reino Unido