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- [41] Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutationsOrphanet Journal of Rare Diseases, 12Alessia Nasca论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsTeresa Rizza论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsMara Doimo论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsAndrea Legati论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsAndrea Ciolfi论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsDaria Diodato论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsCristina Calderan论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsGianfranco Carrara论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsEleonora Lamantea论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsChiara Aiello论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsMichela Di Nottia论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsMarcello Niceta论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsCostanza Lamperti论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsAnna Ardissone论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsStefania Bianchi-Marzoli论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsGiancarlo Iarossi论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsEnrico Bertini论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsIsabella Moroni论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsMarco Tartaglia论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsLeonardo Salviati论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsRosalba Carrozzo论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular NeurogeneticsDaniele Ghezzi论文数: 0 引用数: 0 h-index: 0机构: Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’,Unit of Molecular Neurogenetics
- [42] OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusionBRAIN, 2008, 131 : 352 - 367Zanna, Claudia论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dipartimento Biol Evoluz Sperimentale, I-40126 Bologna, Italy Univ Bologna, Dipartimento Biol Evoluz Sperimentale, I-40126 Bologna, ItalyGhelli, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dipartimento Biol Evoluz Sperimentale, I-40126 Bologna, Italy Univ Bologna, Dipartimento Biol Evoluz Sperimentale, I-40126 Bologna, Italy论文数: 引用数: h-index:机构:Karbowski, Mariusz论文数: 0 引用数: 0 h-index: 0机构: NINDS, Biochem Sect, NIH, Bethesda, MD 20892 USA Univ Bologna, Dipartimento Biol Evoluz Sperimentale, I-40126 Bologna, ItalyYoule, Richard J.论文数: 0 引用数: 0 h-index: 0机构: NINDS, Biochem Sect, NIH, Bethesda, MD 20892 USA Univ Bologna, Dipartimento Biol Evoluz Sperimentale, I-40126 Bologna, ItalySchimpf, Simone论文数: 0 引用数: 0 h-index: 0机构: Univ Eye Hosp, Mol Genet Lab, Tubingen, Germany Univ Bologna, Dipartimento Biol Evoluz Sperimentale, I-40126 Bologna, ItalyWissinger, Bernd论文数: 0 引用数: 0 h-index: 0机构: Univ Eye Hosp, Mol Genet Lab, Tubingen, Germany Univ Bologna, Dipartimento Biol Evoluz Sperimentale, I-40126 Bologna, ItalyPinti, Marcello论文数: 0 引用数: 0 h-index: 0机构: Univ Modena, Sezione Patol Gen, Dipartimento Sci Biomed, I-41100 Modena, Italy Univ Reggio Emilia, Dipartimento Biol Evoluz Sperimentale, Reggio Emilia, Italy Univ Bologna, Dipartimento Biol Evoluz Sperimentale, I-40126 Bologna, ItalyCossarizza, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Modena, Sezione Patol Gen, Dipartimento Sci Biomed, I-41100 Modena, Italy Univ Reggio Emilia, Dipartimento Biol Evoluz Sperimentale, Reggio Emilia, Italy Univ Bologna, Dipartimento Biol Evoluz Sperimentale, I-40126 Bologna, ItalyVidoni, Sara论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dipartimento Biol Evoluz Sperimentale, I-40126 Bologna, Italy Univ Bologna, Dipartimento Biol Evoluz Sperimentale, I-40126 Bologna, ItalyValentino, Maria Lucia论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dipartimento Sci Neurol, I-40126 Bologna, Italy Univ Bologna, Dipartimento Biol Evoluz Sperimentale, I-40126 Bologna, Italy论文数: 引用数: h-index:机构:Carelli, Valerio论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dipartimento Sci Neurol, I-40126 Bologna, Italy Univ Bologna, Dipartimento Biol Evoluz Sperimentale, I-40126 Bologna, Italy
- [43] Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutationsORPHANET JOURNAL OF RARE DISEASES, 2017, 12 : 1 - 10Nasca, Alessia论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyRizza, Teresa论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Lab Mol Med, Unit Muscular & Neurodegenerat Disorders, Rome, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyDoimo, Mara论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Clin Genet Unit, Dept Woman & Child Hlth, Padua, Italy IRP, Padua, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyLegati, Andrea论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyCiolfi, Andrea论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Mol Genet & Genom Unit, Div Genet & Rare Dis, Rome, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyDiodato, Daria论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyCalderan, Cristina论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyCarrara, Gianfranco论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyLamantea, Eleonora论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyAiello, Chiara论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyDi Nottia, Michela论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyNiceta, Marcello论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyLamperti, Costanza论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyArdissone, Anna论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Child Neurol, I-20133 Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyBianchi-Marzoli, Stefania论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Ist Auxol Italiano, Neuroophthalmol Unit, Dept Ophthalmol, Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyIarossi, Giancarlo论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu IRCSS Childrens Hosp, Dept Ophthalmol, Rome, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyMoroni, Isabella论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyTartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalySalviati, Leonardo论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyCarrozzo, Rosalba论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, ItalyGhezzi, Daniele论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Mol Neurogenet, Via Temolo 4, I-20126 Milan, Italy
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- [48] OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric PopulationCURRENT ISSUES IN MOLECULAR BIOLOGY, 2023, 45 (01) : 465 - 478Arruti, Natalia论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, Spain La Paz Univ Hosp, European Reference Network Eye Dis ERN EYE, Madrid 28046, Spain Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, SpainRodriguez-Solana, Patricia论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Med & Mol Genet Inst INGEMM IdiPaz, Mol Ophthalmol Sect, Madrid 28046, Spain Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, SpainNieves-Moreno, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, Spain La Paz Univ Hosp, European Reference Network Eye Dis ERN EYE, Madrid 28046, Spain Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, SpainGuerrero-Carretero, Marta论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, Spain Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, Spaindel Pozo, Angela论文数: 0 引用数: 0 h-index: 0机构: Carlos II Hlth Inst ISCIII, Biomed Res Ctr Rare Dis Network CIBERER, Madrid 28029, Spain Hosp Univ La Paz, Med & Mol Genet Inst INGEMM IdiPaz, Clin Bioinformat Sect, CIBERER, Madrid 28046, Spain Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, SpainMontano, Victoria E. F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Med & Mol Genet Inst INGEMM IdiPaz, Mol Ophthalmol Sect, Madrid 28046, Spain Carlos II Hlth Inst ISCIII, Biomed Res Ctr Rare Dis Network CIBERER, Madrid 28029, Spain Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, SpainSantos-Simarro, Fernando论文数: 0 引用数: 0 h-index: 0机构: Carlos II Hlth Inst ISCIII, Biomed Res Ctr Rare Dis Network CIBERER, Madrid 28029, Spain Hosp Univ La Paz, Med & Mol Genet Inst INGEMM IdiPaz, Clin Genet Sect, CIBERER, Madrid 28046, Spain Hosp Universitari Son Espases, Hlth Res Inst Balear Isl IdISBa, Mol Diagnost & Clin Genet Unit, Palma De Mallorca 07120, Spain Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, SpainRikeros-Orozco, Emi论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Med & Mol Genet Inst INGEMM IdiPaz, Clin Genet Sect, CIBERER, Madrid 28046, Spain Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, SpainDelgado-Mora, Luna论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Med & Mol Genet Inst INGEMM IdiPaz, Clin Genet Sect, CIBERER, Madrid 28046, Spain Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, SpainVallespin, Elena论文数: 0 引用数: 0 h-index: 0机构: La Paz Univ Hosp, European Reference Network Eye Dis ERN EYE, Madrid 28046, Spain Hosp Univ La Paz, Med & Mol Genet Inst INGEMM IdiPaz, Mol Ophthalmol Sect, Madrid 28046, Spain Carlos II Hlth Inst ISCIII, Biomed Res Ctr Rare Dis Network CIBERER, Madrid 28029, Spain Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, SpainNoval, Susana论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, Spain La Paz Univ Hosp, European Reference Network Eye Dis ERN EYE, Madrid 28046, Spain Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, Spain
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- [50] SDOCT Thickness Measurements of Various Retinal Layers in Patients with Autosomal Dominant Optic Atrophy due to OPA1 MutationsBIOMED RESEARCH INTERNATIONAL, 2013, 2013Schild, Andrea M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Ophthalmol, D-50924 Cologne, Germany Univ Hosp Cologne, Dept Ophthalmol, D-50924 Cologne, GermanyRistau, Tina论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Ophthalmol, Cologne Image Reading Ctr, D-50924 Cologne, Germany Univ Hosp Cologne, Dept Ophthalmol, D-50924 Cologne, GermanyFricke, Julia论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Ophthalmol, D-50924 Cologne, Germany Univ Hosp Cologne, Dept Ophthalmol, D-50924 Cologne, GermanyNeugebauer, Antje论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Ophthalmol, D-50924 Cologne, Germany Univ Hosp Cologne, Dept Ophthalmol, D-50924 Cologne, GermanyKirchhof, Bernd论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Ophthalmol, D-50924 Cologne, Germany Univ Hosp Cologne, Dept Ophthalmol, D-50924 Cologne, GermanySadda, Srinivas R.论文数: 0 引用数: 0 h-index: 0机构: Doheny Eye Inst, Doheny Image Reading Ctr, Los Angeles, CA 90033 USA Univ Hosp Cologne, Dept Ophthalmol, D-50924 Cologne, GermanyLiakopoulos, Sandra论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Ophthalmol, Cologne Image Reading Ctr, D-50924 Cologne, Germany Univ Hosp Cologne, Dept Ophthalmol, D-50924 Cologne, Germany