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The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.
Fiorini, Claudio; Ormanbekova, Danara; Palombo, Flavia; Carbonelli, Michele; Amore, Giulia; Romagnoli, Martina; d'Agati, Pietro; Valentino, Maria Lucia; Barboni, Piero; Cascavilla, Maria Lucia; De Negri, Annamaria; Sadun, Federico; Carta, Arturo; Testa, Francesco; Petruzzella, Vittoria; Guerriero, Silvana; Bianchi Marzoli, Stefania; Carelli, Valerio; La Morgia, Chiara; Caporali, Leonardo.
Afiliación
  • Fiorini C; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.
  • Ormanbekova D; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.
  • Palombo F; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.
  • Carbonelli M; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40139 Bologna, Italy.
  • Amore G; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40139 Bologna, Italy.
  • Romagnoli M; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.
  • d'Agati P; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.
  • Valentino ML; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.
  • Barboni P; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40139 Bologna, Italy.
  • Cascavilla ML; Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.
  • De Negri A; Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.
  • Sadun F; Azienda Ospedaliera San Camillo-Forlanini, 00152 Rome, Italy.
  • Carta A; Ospedale Oftalmico Roma, 00136 Rome, Italy.
  • Testa F; Ophthalmology Unit, University Hospital of Parma, 43126 Parma, Italy.
  • Petruzzella V; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, 80131 Naples, Italy.
  • Guerriero S; Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari Aldo Moro, 70121 Bari, Italy.
  • Bianchi Marzoli S; Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari Aldo Moro, 70121 Bari, Italy.
  • Carelli V; Neuroophthalmology Service and Ocular Electrophysiology Laboratory, Department of Ophthalmology, IRCCS Istituto Auxologico Italiano, 20122 Milan, Italy.
  • La Morgia C; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.
  • Caporali L; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40139 Bologna, Italy.
Brain ; 146(9): e67-e70, 2023 09 01.
Article en En | MEDLINE | ID: mdl-36913248

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades del Nervio Óptico / Atrofia Óptica Hereditaria de Leber / Atrofia Óptica Autosómica Dominante Límite: Humans Idioma: En Revista: Brain Año: 2023 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades del Nervio Óptico / Atrofia Óptica Hereditaria de Leber / Atrofia Óptica Autosómica Dominante Límite: Humans Idioma: En Revista: Brain Año: 2023 Tipo del documento: Article País de afiliación: Italia