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Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations.
Ruggiero, Lucia; Iovino, Aniello; Dubbioso, Raffaele; Cocozza, Sirio; Trovato, Rosanna; Aruta, Francesco; Pontillo, Giuseppe; Barghigiani, Melissa; Brunetti, Arturo; Santorelli, Filippo Maria; Manganelli, Fiore; Iodice, Rosa.
Affiliation
  • Ruggiero L; Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy.
  • Iovino A; Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy.
  • Dubbioso R; Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.
  • Cocozza S; Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy.
  • Trovato R; Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.
  • Aruta F; Molecular Medicine, IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.
  • Pontillo G; Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy.
  • Barghigiani M; Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.
  • Brunetti A; Molecular Medicine, IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.
  • Santorelli FM; Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.
  • Manganelli F; Molecular Medicine, IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.
  • Iodice R; Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy.
Ann Clin Transl Neurol ; 7(11): 2326-2331, 2020 11.
Article in En | MEDLINE | ID: mdl-33085208
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Polymerase III / Spastic Paraplegia, Hereditary Limits: Aged / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Ann Clin Transl Neurol Year: 2020 Document type: Article Affiliation country: Italy Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Polymerase III / Spastic Paraplegia, Hereditary Limits: Aged / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Ann Clin Transl Neurol Year: 2020 Document type: Article Affiliation country: Italy Country of publication: United States