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NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo, Daniele; De Michele, Giovanna; Silvestri, Gabriella; Leuzzi, Vincenzo; Casali, Carlo; Musumeci, Olimpia; Antenora, Antonella; Astrea, Guja; Barghigiani, Melissa; Battini, Roberta; Battisti, Carla; Caputi, Caterina; Cioffi, Ettore; De Michele, Giuseppe; Dotti, Maria Teresa; Fico, Tommasina; Fiorillo, Chiara; Galosi, Serena; Lieto, Maria; Malandrini, Alessandro; Melone, Marina A B; Mignarri, Andrea; Natale, Gemma; Pegoraro, Elena; Petrucci, Antonio; Ricca, Ivana; Riso, Vittorio; Rossi, Salvatore; Rubegni, Anna; Scarlatti, Arianna; Tinelli, Francesca; Trovato, Rosanna; Tedeschi, Gioacchino; Tessa, Alessandra; Filla, Alessandro; Santorelli, Filippo Maria.
Afiliação
  • Galatolo D; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • De Michele G; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, Italy.
  • Silvestri G; UOC Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.
  • Leuzzi V; Department of Neurosciences, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
  • Casali C; Department of Human Neuroscience, Sapienza University of Rome, 00185 Rome, Italy.
  • Musumeci O; Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, 40100 Latina, Italy.
  • Antenora A; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy.
  • Astrea G; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, Italy.
  • Barghigiani M; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • Battini R; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • Battisti C; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • Caputi C; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.
  • Cioffi E; Department of Human Neuroscience, Sapienza University of Rome, 00185 Rome, Italy.
  • De Michele G; Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, 40100 Latina, Italy.
  • Dotti MT; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, Italy.
  • Fico T; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.
  • Fiorillo C; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, Italy.
  • Galosi S; Paediatric Neurology and Muscular Diseases Unit, University of Genoa and 'G. Gaslini' Institute, 16147 Genoa, Italy.
  • Lieto M; Department of Human Neuroscience, Sapienza University of Rome, 00185 Rome, Italy.
  • Malandrini A; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, Italy.
  • Melone MAB; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.
  • Mignarri A; Center for Rare Diseases and Interuniversity Center for Research in Neurosciences, Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • Natale G; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.
  • Pegoraro E; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • Petrucci A; Department of Neurosciences, University of Padua, 35121 Padua, Italy.
  • Ricca I; Azienda Ospedaliera San Camillo-Forlanini, 00152 Rome, Italy.
  • Riso V; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • Rossi S; UOC Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.
  • Rubegni A; Department of Neurosciences, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
  • Scarlatti A; UOC Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.
  • Tinelli F; Department of Neurosciences, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
  • Trovato R; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • Tedeschi G; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • Tessa A; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • Filla A; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • Santorelli FM; Center for Rare Diseases and Interuniversity Center for Research in Neurosciences, Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
Int J Mol Sci ; 22(16)2021 Aug 06.
Article em En | MEDLINE | ID: mdl-34445196

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Sequenciamento de Nucleotídeos em Larga Escala Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Int J Mol Sci Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália País de publicação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Sequenciamento de Nucleotídeos em Larga Escala Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Int J Mol Sci Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália País de publicação: Suíça