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Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
Gatti, Marta; Magri, Stefania; Di Bella, Daniela; Sarto, Elisa; Taroni, Franco; Mariotti, Caterina; Nanetti, Lorenzo.
  • Gatti M; 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.
  • Di Bella D; 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.
  • Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria, 11, 20133, 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.
  • Nanetti L; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria, 11, 20133, Milan, Italy.
Neurol Sci ; 42(11): 4741-4745, 2021 Nov.
Article en En | MEDLINE | ID: mdl-34251556
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Espasticidad Muscular Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans País como asunto: Europa Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Espasticidad Muscular Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans País como asunto: Europa Idioma: En Año: 2021 Tipo del documento: Article