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Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.
Mancini, C; Giorgio, E; Rubegni, A; Pradotto, L; Bagnoli, S; Rubino, E; Prontera, P; Cavalieri, S; Di Gregorio, E; Ferrero, M; Pozzi, E; Riberi, E; Ferrero, P; Nigro, P; Mauro, A; Zibetti, M; Tessa, A; Barghigiani, M; Antenora, A; Sirchia, F; Piacentini, S; Silvestri, G; De Michele, G; Filla, A; Orsi, L; Santorelli, F M; Brusco, A.
Afiliação
  • Mancini C; Department of Medical Sciences, University of Torino, Turin, Italy.
  • Giorgio E; Department of Medical Sciences, University of Torino, Turin, Italy.
  • Rubegni A; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Pradotto L; Division of Neurology and Neurorehabilitation, San Giuseppe Hospital, IRCCS Istituto Auxologico Italiano, Piancavallo, Italy.
  • Bagnoli S; Department of Neuroscience, Psychology, Drug Research and Child's Health, University of Florence, Florence, Italy.
  • Rubino E; Department of Neuroscience and Mental Health, Città della Salute e della Scienza University Hospital, Turin, Italy.
  • Prontera P; Medical Genetics Unit, Hospital S. Maria della Misericordia, Perugia, Italy.
  • Cavalieri S; Department of Medical Sciences, University of Torino, Turin, Italy.
  • Di Gregorio E; Department of Medical Sciences, University of Torino, Turin, Italy.
  • Ferrero M; Department of Medical Sciences, University of Torino, Turin, Italy.
  • Pozzi E; Department of Medical Sciences, University of Torino, Turin, Italy.
  • Riberi E; Department of Medical Sciences, University of Torino, Turin, Italy.
  • Ferrero P; Department of Neuroscience and Mental Health, Città della Salute e della Scienza University Hospital, Turin, Italy.
  • Nigro P; Clinica Neurologica, Azienda Ospedaliera - Università di Perugia, Perugia, Italy.
  • Mauro A; Department of Neurosciences, University of Torino, Turin, Italy.
  • Zibetti M; Department of Neuroscience and Mental Health, Città della Salute e della Scienza University Hospital, Turin, Italy.
  • Tessa A; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Barghigiani M; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Antenora A; Department of Neurosciences, Federico II University, Naples, Italy.
  • Sirchia F; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
  • Piacentini S; Department of Neuroscience, Psychology, Drug Research and Child's Health, University of Florence, Florence, Italy.
  • Silvestri G; Fondazione Policlinico Universitario IRCCS, A. Gemelli, Rome, Italy.
  • De Michele G; Università Cattolica del Sacro Cuore, Rome, Italy.
  • Filla A; Department of Neurosciences, Federico II University, Naples, Italy.
  • Orsi L; Department of Neurosciences, Federico II University, Naples, Italy.
  • Santorelli FM; Department of Neuroscience and Mental Health, Città della Salute e della Scienza University Hospital, Turin, Italy.
  • Brusco A; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
Eur J Neurol ; 26(1): 80-86, 2019 01.
Article em En | MEDLINE | ID: mdl-30098094
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Metaloendopeptidases / Ataxia Cerebelar / ATPases Associadas a Diversas Atividades Celulares Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Metaloendopeptidases / Ataxia Cerebelar / ATPases Associadas a Diversas Atividades Celulares Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália País de publicação: Reino Unido