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AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Colucci, Fabiana; Neri, Marcella; Fortunato, Fernanda; Ferlini, Alessandra; Carrozzo, Rosalba; Torraco, Alessandra; Lamantea, Eleonora; Legati, Andrea; Tecilla, Ginevra; Pugliatti, Maura; Sensi, Mariachiara.
Afiliación
  • Colucci F; Department of Neuroscience and Rehabilitation, University of Ferrara, Ferrara, Italy. fabiana.colucci9@gmail.com.
  • Neri M; Department of Neuroscience and Rehabilitation, Azienda Ospedaliero-Universitaria S. Anna, Ferrara, Italy. fabiana.colucci9@gmail.com.
  • Fortunato F; Department of Medical Sciences, Unit of Medical Genetics, Universita Degli Studi Di Ferrara, Ferrara, Italy.
  • Ferlini A; Department of Medical Sciences, Unit of Medical Genetics, Universita Degli Studi Di Ferrara, Ferrara, Italy.
  • Carrozzo R; Department of Medical Sciences, Unit of Medical Genetics, Universita Degli Studi Di Ferrara, Ferrara, Italy.
  • Torraco A; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Lamantea E; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Legati A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Tecilla G; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Pugliatti M; Department of Neuroscience and Rehabilitation, University of Ferrara, Ferrara, Italy.
  • Sensi M; Department of Neuroscience and Rehabilitation, University of Ferrara, Ferrara, Italy.
Cerebellum ; 22(6): 1313-1319, 2023 Dec.
Article en En | MEDLINE | ID: mdl-36447112

Texto completo: 1 Colección: 01-internacional Asunto principal: Degeneraciones Espinocerebelosas / Ataxia Cerebelosa Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Cerebellum Asunto de la revista: CEREBRO Año: 2023 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Asunto principal: Degeneraciones Espinocerebelosas / Ataxia Cerebelosa Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Cerebellum Asunto de la revista: CEREBRO Año: 2023 Tipo del documento: Article País de afiliación: Italia