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Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.
Pretegiani, E; Rosini, F; Rufa, A; Gallus, G N; Cardaioli, E; Da Pozzo, P; Bianchi, S; Serchi, V; Collura, M; Franceschini, R; Bianchi Marzoli, S; Dotti, M T; Federico, A.
Affiliation
  • Pretegiani E; Eye Tracking and Visual Application Lab (EVALab), Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy; Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, MD, USA
  • Rosini F; Eye Tracking and Visual Application Lab (EVALab), Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
  • Rufa A; Eye Tracking and Visual Application Lab (EVALab), Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy. Electronic address: rufa@unisi.it.
  • Gallus GN; Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
  • Cardaioli E; Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
  • Da Pozzo P; Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
  • Bianchi S; Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
  • Serchi V; Eye Tracking and Visual Application Lab (EVALab), Dpt Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
  • Collura M; Italian Union of the Blind, Siracusa, Italy.
  • Franceschini R; Dpt of Ophthalmology, University of Siena, Siena, Italy.
  • Bianchi Marzoli S; Neuro-Ophthalmology Service, Department of Ophthalmology, Fondazione IRCCS Istituto Auxologico Italiano, Milan, Italy.
  • Dotti MT; Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
  • Federico A; Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
J Neurol Sci ; 382: 29-35, 2017 Nov 15.
Article in En | MEDLINE | ID: mdl-29111013
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Optic Atrophy, Autosomal Dominant / Tomography, Optical Coherence / GTP Phosphohydrolases Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: J Neurol Sci Year: 2017 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Optic Atrophy, Autosomal Dominant / Tomography, Optical Coherence / GTP Phosphohydrolases Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: J Neurol Sci Year: 2017 Document type: Article