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POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
Di Donato, Ilaria; Gallo, Antonio; Ricca, Ivana; Fini, Nicola; Silvestri, Gabriella; Gurrieri, Fiorella; Cirillo, Mario; Cerase, Alfonso; Natale, Gemma; Matrone, Federica; Riso, Vittorio; Melone, Mariarosa Anna Beatrice; Tessa, Alessandra; De Michele, Giovanna; Federico, Antonio; Filla, Alessandro; Dotti, Maria Teresa; Santorelli, Filippo Maria.
Afiliación
  • Di Donato I; Department of Medicine, Surgery and Neurosciences, University of Siena, viale Bracci, 16, 50055, Siena, Italy. didonatoila@gmail.com.
  • Gallo A; Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Ricca I; Molecular Medicine and Neurogenetics, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128, Pisa, Italy.
  • Fini N; Neurology Unit, Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, Modena, Italy.
  • Silvestri G; Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, UOC Neurologia, Rome, Italy.
  • Gurrieri F; Department of Neurosciences, Università Cattolica del Sacro Cuore, Rome, Italy.
  • Cirillo M; Medical Genetics, Università Campus Bio-Medico, 00128, Rome, Italy.
  • Cerase A; Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Natale G; Department of Medicine, Surgery and Neurosciences, University of Siena, viale Bracci, 16, 50055, Siena, Italy.
  • Matrone F; Molecular Medicine and Neurogenetics, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128, Pisa, Italy.
  • Riso V; Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Melone MAB; Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, UOC Neurologia, Rome, Italy.
  • Tessa A; Department of Neurosciences, Università Cattolica del Sacro Cuore, Rome, Italy.
  • De Michele G; Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Federico A; Sbarro Institute for Cancer Research and Molecular Medicine, Center for Biotechnology, Temple University, Philadelphia, PA, USA.
  • Filla A; Molecular Medicine and Neurogenetics, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128, Pisa, Italy.
  • Dotti MT; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
  • Santorelli FM; Department of Medicine, Surgery and Neurosciences, University of Siena, viale Bracci, 16, 50055, Siena, Italy.
Neurol Sci ; 43(2): 1071-1077, 2022 Feb.
Article en En | MEDLINE | ID: mdl-34296356
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Atrofia Óptica / Ataxias Espinocerebelosas / Paraparesia Espástica Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Atrofia Óptica / Ataxias Espinocerebelosas / Paraparesia Espástica Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Italia