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- [31] Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophyJOURNAL OF MEDICAL GENETICS, 2009, 46 (02) : 136 - 144Fuhrmann, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Clin Tuebingen, Mol Genet Lab, Inst Ophthalm Res, Ctr Ophthalmol, D-72076 Tubingen, Germany Univ Clin Tuebingen, Mol Genet Lab, Inst Ophthalm Res, Ctr Ophthalmol, D-72076 Tubingen, GermanyAlavi, M. V.论文数: 0 引用数: 0 h-index: 0机构: Univ Clin Tuebingen, Mol Genet Lab, Inst Ophthalm Res, Ctr Ophthalmol, D-72076 Tubingen, Germany Univ Clin Tuebingen, Mol Genet Lab, Inst Ophthalm Res, Ctr Ophthalmol, D-72076 Tubingen, GermanyBitoun, P.论文数: 0 引用数: 0 h-index: 0机构: CHU Paris Nord, Genet Med Hop Jean Verdier, Bondy, France Univ Clin Tuebingen, Mol Genet Lab, Inst Ophthalm Res, Ctr Ophthalmol, D-72076 Tubingen, GermanyWoernle, S.论文数: 0 引用数: 0 h-index: 0机构: Clin Ctr Traunstein, Dept Pediat, Traunstein, Germany Univ Clin Tuebingen, Mol Genet Lab, Inst Ophthalm Res, Ctr Ophthalmol, D-72076 Tubingen, GermanyAuburger, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Clin Frankfurt, Dept Neurol, Sect Mol Neurogenet, Frankfurt, Germany Univ Clin Tuebingen, Mol Genet Lab, Inst Ophthalm Res, Ctr Ophthalmol, D-72076 Tubingen, GermanyLeo-Kottler, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Clin Tuebingen, Ctr Ophthalmol, Univ Eye Hosp, Tubingen, Germany Univ Clin Tuebingen, Mol Genet Lab, Inst Ophthalm Res, Ctr Ophthalmol, D-72076 Tubingen, GermanyYu-Wai-Man, P.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Sch Med, Mitochondrial Res Grp, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Dept Ophthalmol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Univ Clin Tuebingen, Mol Genet Lab, Inst Ophthalm Res, Ctr Ophthalmol, D-72076 Tubingen, GermanyChinnery, P.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Sch Med, Mitochondrial Res Grp, Newcastle Upon Tyne, Tyne & Wear, England Univ Clin Tuebingen, Mol Genet Lab, Inst Ophthalm Res, Ctr Ophthalmol, D-72076 Tubingen, GermanyWissinger, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Clin Tuebingen, Mol Genet Lab, Inst Ophthalm Res, Ctr Ophthalmol, D-72076 Tubingen, Germany Univ Clin Tuebingen, Mol Genet Lab, Inst Ophthalm Res, Ctr Ophthalmol, D-72076 Tubingen, Germany
- [32] New insights into OPA1 autosomal dominant optic atrophyINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)Whitehead, Michael论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England UCL, Inst Ophthalmol, London, England
- [33] OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic TargetsJOURNAL OF NEURO-OPHTHALMOLOGY, 2023, 43 (04) : 464 - 474Wong, David C. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, John van Geest Ctr Brain Repair, Dept Clin Neurosci, Cambridge, England Addenbrookes Hosp, Cambridge Eye Unit, Cambridge, England Univ Cambridge, John van Geest Ctr Brain Repair, Dept Clin Neurosci, Cambridge, EnglandHarvey, Joshua P.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London, England Moorfields Eye Hosp NHS Fdn Trust, London, England Univ Cambridge, John van Geest Ctr Brain Repair, Dept Clin Neurosci, Cambridge, England论文数: 引用数: h-index:机构:Thomasy, Sara M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Sch Med, Dept Ophthalmol & Vis Sci, Sacramento, CA USA Univ Calif Davis, Sch Vet Med, Dept Surg & Radiol Sci, Davis, CA USA Univ Cambridge, John van Geest Ctr Brain Repair, Dept Clin Neurosci, Cambridge, England论文数: 引用数: h-index:机构:Yu-Wai-Man, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, John van Geest Ctr Brain Repair, Dept Clin Neurosci, Cambridge, England Addenbrookes Hosp, Cambridge Eye Unit, Cambridge, England UCL Inst Ophthalmol, London, England Moorfields Eye Hosp NHS Fdn Trust, London, England Univ Cambridge, John van Geest Ctr Brain Repair, Dept Clin Neurosci, Cambridge, EnglandGilhooley, Michael J.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London, England Moorfields Eye Hosp NHS Fdn Trust, London, England UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England Univ Cambridge, John van Geest Ctr Brain Repair, Dept Clin Neurosci, Cambridge, England
- [34] Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophyBMC MEDICAL GENETICS, 2011, 12Almind, 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, DenmarkGronskov, Karen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, DenmarkMilea, Dan论文数: 0 引用数: 0 h-index: 0机构: Angers Univ Hosp, Dept Ophthalmol, Angers, France Glostrup Cty Hosp, Dept Ophthalmol, Glostrup, 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, Ctr Appl Human Mol Genet, Glostrup, Denmark Glostrup Cty Hosp, Dept Ophthalmol, Glostrup, Denmark Univ Copenhagen, Fac Hlth Sci, 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, Fac Hlth Sci, Copenhagen, Denmark Kennedy Ctr, Ctr Appl Human Mol Genet, Glostrup, DenmarkEk, Jakob论文数: 0 引用数: 0 h-index: 0机构: Kennedy Ctr, Ctr Appl Human Mol Genet, Glostrup, Denmark Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark Kennedy Ctr, Ctr Appl Human Mol Genet, Glostrup, Denmark
- [35] Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophyEXPERIMENTAL NEUROLOGY, 2009, 220 (02) : 404 - 409Alavi, Marcel V.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Mol Genet Lab, D-72076 Tubingen, Germany Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Mol Genet Lab, D-72076 Tubingen, GermanyFuhrmann, Nico论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Mol Genet Lab, D-72076 Tubingen, Germany Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Mol Genet Lab, D-72076 Tubingen, GermanyNguyen, Huu Phuc论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Med Genet, D-72076 Tubingen, Germany Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Mol Genet Lab, D-72076 Tubingen, GermanyYu-Wai-Man, Patrick论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Sch Med, Inst Ageing & Hlth, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Royal Victoria Infirm, Dept Ophthalmol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Mol Genet Lab, D-72076 Tubingen, GermanyHeiduschka, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Mol Genet Lab, D-72076 Tubingen, GermanyChinnery, Patrick F.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Sch Med, Inst Ageing & Hlth, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Mol Genet Lab, D-72076 Tubingen, GermanyWissinger, Bernd论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Mol Genet Lab, D-72076 Tubingen, Germany Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Mol Genet Lab, D-72076 Tubingen, Germany
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- [38] OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophyBRAIN, 2011, 134Yu-Wai-Man, Patrick论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Mitochondrial Res Grp, Inst Ageing & Hlth, Sch Med, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Royal Victoria Infirm, Dept Ophthalmol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandTrenell, Michael I.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Magnet Resonance Ctr, Inst Ageing & Hlth, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandHollingsworth, Kieren G.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Magnet Resonance Ctr, Inst Ageing & Hlth, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandGriffiths, Philip G.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Mitochondrial Res Grp, Inst Ageing & Hlth, Sch Med, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Royal Victoria Infirm, Dept Ophthalmol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandChinnery, Patrick F.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Mitochondrial Res Grp, Inst Ageing & Hlth, Sch Med, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
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- [40] 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