Your browser doesn't support javascript.
loading
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
Nanetti, Lorenzo; Sarto, Elisa; Castaldo, Anna; Magri, Stefania; Mongelli, Alessia; Rossi Sebastiano, Davide; Canafoglia, Laura; Grisoli, Marina; Malaguti, Chiara; Rivieri, Francesca; D'Amico, Maria Chiara; Di Bella, Daniela; Franceschetti, Silvana; Mariotti, Caterina; Taroni, Franco.
Afiliación
  • Nanetti L; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
  • Sarto E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
  • Castaldo A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
  • Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
  • Mongelli A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
  • Rossi Sebastiano D; Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Canafoglia L; Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Grisoli M; Unit of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Malaguti C; Unit of Neurology, Santa Chiara Hospital, Trento, Italy.
  • Rivieri F; Medical Genetic Service, Santa Chiara Hospital, Trento, Italy.
  • D'Amico MC; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
  • Di Bella D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
  • Franceschetti S; Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Mariotti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy. caterina.mariotti@istituto-besta.it.
  • Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
J Neurol ; 266(2): 378-385, 2019 Feb.
Article en En | MEDLINE | ID: mdl-30515630
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Ataxias Espinocerebelosas / Potenciales Evocados Somatosensoriales / Función Ejecutiva / Disfunción Cognitiva / Anoctaminas / Genes Recesivos Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Año: 2019 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Ataxias Espinocerebelosas / Potenciales Evocados Somatosensoriales / Función Ejecutiva / Disfunción Cognitiva / Anoctaminas / Genes Recesivos Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Año: 2019 Tipo del documento: Article País de afiliación: Italia