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NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.
Riso, Vittorio; Rossi, S; Perna, A; Nicoletti, T; Bosco, L; Zanni, G; Silvestri, G.
Afiliação
  • Riso V; Area of Neuroscience, Fondazione Policlinico Universitario A. Gemelli IRCSS, Rome, Italy. vriso90@gmail.com.
  • Rossi S; Area of Neuroscience, Fondazione Policlinico Universitario A. Gemelli IRCSS, Rome, Italy.
  • Perna A; Area of Neuroscience, Fondazione Policlinico Universitario A. Gemelli IRCSS, Rome, Italy.
  • Nicoletti T; Area of Neuroscience, Fondazione Policlinico Universitario A. Gemelli IRCSS, Rome, Italy.
  • Bosco L; Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
  • Zanni G; Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
  • Silvestri G; Area of Neuroscience, Fondazione Policlinico Universitario A. Gemelli IRCSS, Rome, Italy.
Neurol Sci ; 41(10): 2989-2991, 2020 Oct.
Article em En | MEDLINE | ID: mdl-32367327
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tremor / Ataxias Espinocerebelares Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tremor / Ataxias Espinocerebelares Idioma: En Ano de publicação: 2020 Tipo de documento: Article