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A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.
Riso, Vittorio; Galatolo, Daniele; Barghigiani, Melissa; Galosi, Serena; Tessa, Alessandra; Ricca, Ivana; Rossi, Salvatore; Caputi, Caterina; Cioffi, Ettore; Leuzzi, Vincenzo; Casali, Carlo; Santorelli, Filippo M; Silvestri, Gabriella.
Afiliación
  • Riso V; Department of Neuroscience, Università Cattolica del Sacro Cuore, Facoltà di medicina e Chirurgia, Rome, Italy.
  • Galatolo D; UOC Neurologia, Policlinico Universitario A.Gemelli IRCCS, Rome, Italy.
  • Barghigiani M; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Galosi S; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Tessa A; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
  • Ricca I; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Rossi S; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Caputi C; Department of Neuroscience, Università Cattolica del Sacro Cuore, Facoltà di medicina e Chirurgia, Rome, Italy.
  • Cioffi E; UOC Neurologia, Policlinico Universitario A.Gemelli IRCCS, Rome, Italy.
  • Leuzzi V; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
  • Casali C; UOC Neurorehabilitation, Dep. SBMC, Sapienza University of Rome, Polo Pontino, Rome, Italy.
  • Santorelli FM; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
  • Silvestri G; UOC Neurorehabilitation, Dep. SBMC, Sapienza University of Rome, Polo Pontino, Rome, Italy.
Eur J Neurol ; 28(8): 2784-2788, 2021 08.
Article en En | MEDLINE | ID: mdl-33851480
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Degeneraciones Espinocerebelosas / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Humans Idioma: En Revista: Eur J Neurol Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Italia
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Degeneraciones Espinocerebelosas / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Humans Idioma: En Revista: Eur J Neurol Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Italia