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Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
Barresi, S; Niceta, M; Alfieri, P; Brankovic, V; Piccini, G; Bruselles, A; Barone, M R; Cusmai, R; Tartaglia, M; Bertini, E; Zanni, G.
Afiliación
  • Barresi S; Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Niceta M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Alfieri P; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Brankovic V; Department of Neurosciences, Child Neuropsychiatry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Piccini G; Clinic for Child Neurology and Psychiatry, Medical Faculty, University of Belgrade, Belgrade, Serbia.
  • Bruselles A; Department of Neurosciences, Child Neuropsychiatry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Barone MR; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Cusmai R; Centro ambulatoriale di Riabilitazione, Fondazione Betania Onlus, Catanzaro, Italy.
  • Tartaglia M; Department of Neurosciences, Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bertini E; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Zanni G; Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Clin Genet ; 91(1): 86-91, 2017 01.
Article en En | MEDLINE | ID: mdl-27062503
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Ataxias Espinocerebelosas / Receptores de Inositol 1,4,5-Trifosfato / Mutación Límite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Año: 2017 Tipo del documento: Article País de afiliación: Italia
Texto completo
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PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Ataxias Espinocerebelosas / Receptores de Inositol 1,4,5-Trifosfato / Mutación Límite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Año: 2017 Tipo del documento: Article País de afiliación: Italia