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Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
Piscosquito, Giuseppe; Saveri, Paola; Magri, Stefania; Ciano, Claudia; Gandioli, Claudia; Morbin, Michela; Bella, Daniela D; Moroni, Isabella; Taroni, Franco; Pareyson, Davide.
Afiliação
  • Piscosquito G; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
  • Saveri P; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
  • Magri S; Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
  • Ciano C; Neurophysiopathology and Epilepsy Centre, Department of Diagnostics and Applied Technology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
  • Gandioli C; Division of Child Neurology, Department of Pediatric Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
  • Morbin M; Division of Neurology and Neuropathology; Department of Diagnostics and Applied Technology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
  • Bella DD; Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
  • Moroni I; Division of Child Neurology, Department of Pediatric Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
  • Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
  • Pareyson D; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
J Peripher Nerv Syst ; 21(3): 142-9, 2016 09.
Article em En | MEDLINE | ID: mdl-27231023
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Doença de Charcot-Marie-Tooth / Doenças Desmielinizantes / Mutação Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Doença de Charcot-Marie-Tooth / Doenças Desmielinizantes / Mutação Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article