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A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.
Manini, Arianna; Bocci, Tommaso; Migazzi, Alice; Monfrini, Edoardo; Ronchi, Dario; Franco, Giulia; De Rosa, Anna; Sartucci, Ferdinando; Priori, Alberto; Corti, Stefania; Comi, Giacomo Pietro; Bresolin, Nereo; Basso, Manuela; Di Fonzo, Alessio.
Afiliação
  • Manini A; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.
  • Bocci T; "Luigi Sacco" Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.
  • Migazzi A; "Aldo Ravelli" Center for Neurotechnology and Experimental Brain Therapeutics, Department of Health Sciences, University of Milan and ASST Santi Paolo e Carlo, Milan, Italy.
  • Monfrini E; Department of Cellular, Computational and Integrative Biology - CIBIO, University of Trento, Trento, Italy.
  • Ronchi D; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.
  • Franco G; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.
  • De Rosa A; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.
  • Sartucci F; Department of Clinical and Experimental Medicine, Unit of Neurology, Pisa University Medical School, Pisa, Italy.
  • Priori A; Department of Clinical and Experimental Medicine, Unit of Neurology, Pisa University Medical School, Pisa, Italy.
  • Corti S; "Aldo Ravelli" Center for Neurotechnology and Experimental Brain Therapeutics, Department of Health Sciences, University of Milan and ASST Santi Paolo e Carlo, Milan, Italy.
  • Comi GP; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.
  • Bresolin N; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.
  • Basso M; Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.
  • Di Fonzo A; Department of Cellular, Computational and Integrative Biology - CIBIO, University of Trento, Trento, Italy.
BMC Neurol ; 20(1): 408, 2020 Nov 07.
Article em En | MEDLINE | ID: mdl-33160304
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Ataxias Espinocerebelares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans / Male / Middle aged Idioma: En Revista: BMC Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Ataxias Espinocerebelares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans / Male / Middle aged Idioma: En Revista: BMC Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália