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Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation.
Colucci, Fabiana; Barca, Silvia; Cilia, Roberto; De Franco, Valentino; Elia, Antonio E; Golfrè Andreasi, Nico; Romito, Luigi; Telese, Roberta; Braccia, Arianna; Leta, Valentina; Grisoli, Marina; Panteghini, Celeste; Garavaglia, Barbara; Devigili, Grazia; Eleopra, Roberto.
Afiliação
  • Colucci F; Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Milan, Italy.
  • Barca S; Department of Neuroscience and Rehabilitation, University of Ferrara, Ferrara, Italy.
  • Cilia R; Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
  • De Franco V; Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Milan, Italy.
  • Elia AE; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
  • Golfrè Andreasi N; Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Milan, Italy.
  • Romito L; Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Milan, Italy.
  • Telese R; Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Milan, Italy.
  • Braccia A; Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Milan, Italy.
  • Leta V; Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Milan, Italy.
  • Grisoli M; Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Milan, Italy.
  • Panteghini C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Neurosurgery, Functional Neurosurgery Unit; Milano, Milano, Italy.
  • Garavaglia B; Fondazione IRCCS Istituto Neurologico Carlo Besta, Unit of Medical Genetics and Neurogenetics, Milan, Italy.
  • Devigili G; Fondazione IRCCS Istituto Neurologico Carlo Besta, Unit of Medical Genetics and Neurogenetics, Milan, Italy.
  • Eleopra R; Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Milan, Italy.
Mov Disord Clin Pract ; 11 Suppl 2: S14-S16, 2024 Aug.
Article em En | MEDLINE | ID: mdl-38400595
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ceruloplasmina / Imageamento por Ressonância Magnética / Mutação da Fase de Leitura / Doenças Neurodegenerativas Idioma: En Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ceruloplasmina / Imageamento por Ressonância Magnética / Mutação da Fase de Leitura / Doenças Neurodegenerativas Idioma: En Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Itália