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Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
De Michele, Giovanna; Galatolo, Daniele; Galosi, Serena; Mignarri, Andrea; Silvestri, Gabriella; Casali, Carlo; Leuzzi, Vincenzo; Ricca, Ivana; Barghigiani, Melissa; Tessa, Alessandra; Cioffi, Ettore; Caputi, Caterina; Riso, Vittorio; Dotti, Maria Teresa; Saccà, Francesco; De Michele, Giuseppe; Cocozza, Sirio; Filla, Alessandro; Santorelli, Filippo M.
Afiliação
  • De Michele G; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy.
  • Galatolo D; Istituto Di Ricovero E Cura a Carattere Scientifico (IRCCS), Fondazione Stella Maris, Pisa, Italy.
  • Galosi S; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
  • Mignarri A; Department of Medicine, Surgery and Neuroscience, Neurology and Neurometabolic Unit, University of Siena, Siena, Italy.
  • Silvestri G; Department of Neurosciences, Faculty of Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy.
  • Casali C; Neurology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
  • Leuzzi V; Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, Rome, Italy.
  • Ricca I; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
  • Barghigiani M; Istituto Di Ricovero E Cura a Carattere Scientifico (IRCCS), Fondazione Stella Maris, Pisa, Italy.
  • Tessa A; Istituto Di Ricovero E Cura a Carattere Scientifico (IRCCS), Fondazione Stella Maris, Pisa, Italy.
  • Cioffi E; Istituto Di Ricovero E Cura a Carattere Scientifico (IRCCS), Fondazione Stella Maris, Pisa, Italy.
  • Caputi C; Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, Rome, Italy.
  • Riso V; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
  • Dotti MT; Department of Neurosciences, Faculty of Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy.
  • Saccà F; Neurology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
  • De Michele G; Department of Medicine, Surgery and Neuroscience, Neurology and Neurometabolic Unit, University of Siena, Siena, Italy.
  • Cocozza S; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy.
  • Filla A; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Via Sergio Pansini 5, 80131, Naples, Italy.
  • Santorelli FM; Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy.
J Neurol ; 269(3): 1476-1484, 2022 Mar.
Article em En | MEDLINE | ID: mdl-34292398
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteína Quinase C / Ataxias Espinocerebelares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteína Quinase C / Ataxias Espinocerebelares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article