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- [21] Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%BMC MEDICAL GENETICS, 2012, 13Almind, Gitte J.论文数: 0 引用数: 0 h-index: 0机构: Kennedy Ctr, Ctr Appl Human Mol Genet, Glostrup, Denmark Kennedy Ctr, Ctr Appl Human Mol Genet, Glostrup, DenmarkEk, Jakob论文数: 0 引用数: 0 h-index: 0机构: Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark Kennedy Ctr, Ctr Appl Human Mol Genet, Glostrup, DenmarkRosenberg, Thomas论文数: 0 引用数: 0 h-index: 0机构: Kennedy Ctr, Natl Eye Clin, Glostrup, Denmark Kennedy Ctr, Ctr Appl Human Mol Genet, Glostrup, DenmarkEiberg, Hans论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Cellular & Mol Med, Fac Hlth Sci, Copenhagen, Denmark Kennedy Ctr, Ctr Appl Human Mol Genet, Glostrup, DenmarkLarsen, Michael论文数: 0 引用数: 0 h-index: 0机构: Kennedy Ctr, Natl Eye Clin, Glostrup, Denmark Glostrup Cty Hosp, Dept Ophthalmol, Glostrup, Denmark Kennedy Ctr, Ctr Appl Human Mol Genet, Glostrup, DenmarkLuCamp, LuCamp论文数: 0 引用数: 0 h-index: 0机构: LuCamp, Lundbeck Fdn Ctr Appl Med Genom Personalized Dis, Copenhagen, Denmark Kennedy Ctr, Ctr Appl Human Mol Genet, Glostrup, DenmarkBrondum-Nielsen, Karen论文数: 0 引用数: 0 h-index: 0机构: Kennedy Ctr, Ctr Appl Human Mol Genet, Glostrup, Denmark Univ Copenhagen, Dept Cellular & Mol Med, Fac Hlth Sci, Copenhagen, Denmark Kennedy Ctr, Ctr Appl Human Mol Genet, Glostrup, DenmarkGronskov, Karen论文数: 0 引用数: 0 h-index: 0机构: Kennedy Ctr, Ctr Appl Human Mol Genet, Glostrup, Denmark Univ Copenhagen, Dept Cellular & Mol Med, Fac Hlth Sci, Copenhagen, Denmark Kennedy Ctr, Ctr Appl Human Mol Genet, Glostrup, Denmark
- [22] 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
- [23] 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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- [25] Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophySCIENTIFIC REPORTS, 2024, 14 (01):de Muijnck, Cansu论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, Netherlands Amsterdam Univ Med Ctr, Dept Ophthalmol, Amsterdam, Netherlands Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, NetherlandsHaer-Wigman, Lonneke论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, Netherlandsvan Everdingen, Judith A. M.论文数: 0 引用数: 0 h-index: 0机构: Rotterdam Eye Hosp, Dept Neuroophthalmol, Rotterdam, Netherlands Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, NetherlandsLushchyk, Tanya论文数: 0 引用数: 0 h-index: 0机构: Rotterdam Eye Hosp, Dept Neuroophthalmol, Rotterdam, Netherlands Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, NetherlandsHeutinck, Pam A. T.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ Med Ctr, Dept Ophthalmol, Rotterdam, Netherlands Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, Netherlandsvan Dooren, Marieke F.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, Netherlands Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, NetherlandsKievit, Anneke J. A.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, Netherlands Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, NetherlandsVerhoeven, Virginie J. M.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ Med Ctr, Dept Ophthalmol, Rotterdam, Netherlands Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, Netherlands Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, NetherlandsSimon, Marleen E. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, NetherlandsWasmann, Rosemarie A.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Ophthalmol, Groningen, Netherlands Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, NetherlandsNotting, Irene C.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Ophthalmol, Leiden, Netherlands Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, Netherlands论文数: 引用数: h-index:机构:Walraedt, Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, NetherlandsDe Zaeytijd, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, Netherlandsvan den Broeck, Filip论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, NetherlandsLeroy, Bart P.论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, NetherlandsBoon, Camiel J. F.论文数: 0 引用数: 0 h-index: 0机构: Amsterdam Univ Med Ctr, Dept Ophthalmol, Amsterdam, Netherlands Leiden Univ, Med Ctr, Dept Ophthalmol, Leiden, Netherlands Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, Netherlandsvan Genderen, Maria M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, Netherlands Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, Netherlands
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- [27] Mutation spectrum and splicing variants in the OPA1 geneHuman Genetics, 2001, 109 : 584 - 591Cécile Delettre论文数: 0 引用数: 0 h-index: 0机构: Inserm U. 254,Jean-Michel Griffoin论文数: 0 引用数: 0 h-index: 0机构: Inserm U. 254,Josseline Kaplan论文数: 0 引用数: 0 h-index: 0机构: Inserm U. 254,Hélène Dollfus论文数: 0 引用数: 0 h-index: 0机构: Inserm U. 254,Birgit Lorenz论文数: 0 引用数: 0 h-index: 0机构: Inserm U. 254,Laurence Faivre论文数: 0 引用数: 0 h-index: 0机构: Inserm U. 254,Guy Lenaers论文数: 0 引用数: 0 h-index: 0机构: Inserm U. 254,Pascale Belenguer论文数: 0 引用数: 0 h-index: 0机构: Inserm U. 254,Christian P. Hamel论文数: 0 引用数: 0 h-index: 0机构: Inserm U. 254,
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- [29] Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotilityMOLECULAR GENETICS AND METABOLISM REPORTS, 2014, 1 : 443 - 445Kazamel, Mohamed论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN 55902 USA Mayo Clin, Dept Neurol, Rochester, MN 55902 USAWong, Lee-Jun论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Mayo Clin, Dept Neurol, Rochester, MN 55902 USAMilone, Margherita论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN 55902 USA Mayo Clin, Dept Neurol, Rochester, MN 55902 USA
- [30] Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qterDOCUMENTA OPHTHALMOLOGICA, 1998, 95 (3-4) : 217 - 228Holder, GE论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London EC1V 2PD, EnglandVotruba, M论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London EC1V 2PD, EnglandCarter, AC论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London EC1V 2PD, EnglandBhattacharya, SS论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London EC1V 2PD, EnglandFitzke, FW论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London EC1V 2PD, EnglandMoore, AT论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London EC1V 2PD, England