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Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations.
Piscosquito, Giuseppe; Saveri, Paola; Magri, Stefania; Ciano, Claudia; Di Bella, Daniela; Milani, Micaela; Taroni, Franco; Pareyson, Davide.
  • Piscosquito G; Department of Clinical Neurosciences, Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
  • Saveri P; Department of Clinical Neurosciences, Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
  • Magri S; Department of Diagnostics and Applied Technology, Unit of Genetics of Neurodegenerative and Metabolic Disease, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
  • Ciano C; Department of Diagnostics and Applied Technology, Neurophysiopathology and Epilepsy Centre, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
  • Di Bella D; Department of Diagnostics and Applied Technology, Unit of Genetics of Neurodegenerative and Metabolic Disease, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
  • Milani M; Department of Diagnostics and Applied Technology, Unit of Genetics of Neurodegenerative and Metabolic Disease, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
  • Taroni F; Department of Diagnostics and Applied Technology, Unit of Genetics of Neurodegenerative and Metabolic Disease, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
  • Pareyson D; Department of Clinical Neurosciences, Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
J Peripher Nerv Syst ; 20(4): 380-6, 2015 Dec.
Article en En | MEDLINE | ID: mdl-26306937
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteínas Mitocondriales / GTP Fosfohidrolasas / Mutación Tipo de estudio: Prognostic_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Año: 2015 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteínas Mitocondriales / GTP Fosfohidrolasas / Mutación Tipo de estudio: Prognostic_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Año: 2015 Tipo del documento: Article