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Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.
Monfrini, Edoardo; Straniero, Letizia; Bonato, Sara; Monzio Compagnoni, Giacomo; Bordoni, Andreina; Dilena, Robertino; Rinchetti, Paola; Silipigni, Rosamaria; Ronchi, Dario; Corti, Stefania; Comi, Giacomo P; Bresolin, Nereo; Duga, Stefano; Di Fonzo, Alessio.
Afiliação
  • Monfrini E; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Straniero L; Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Milan, Italy; Humanitas Clinical and Research Center, Rozzano, Milan, Italy.
  • Bonato S; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Monzio Compagnoni G; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Bordoni A; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Dilena R; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurofisiopatologia Pediatrica, UOC Neurofisiopatologia, Milan, Italy.
  • Rinchetti P; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Silipigni R; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Laboratory of Medical Genetics, Milan, Italy.
  • Ronchi D; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Corti S; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Comi GP; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Bresolin N; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Duga S; Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Milan, Italy; Humanitas Clinical and Research Center, Rozzano, Milan, Italy.
  • Di Fonzo A; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address: alessio.difonzo@policlinico.mi.it.
Parkinsonism Relat Disord ; 63: 66-72, 2019 06.
Article em En | MEDLINE | ID: mdl-30850329
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Moléculas de Adesão Celular / Ataxia Cerebelar / Doenças Desmielinizantes / Transtornos do Neurodesenvolvimento / Fatores de Crescimento Neural Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Moléculas de Adesão Celular / Ataxia Cerebelar / Doenças Desmielinizantes / Transtornos do Neurodesenvolvimento / Fatores de Crescimento Neural Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália