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- [31] Dysregulated mitophagy and mitochondrial transport in severe dominant optic atrophy due to OPA1 mutationsNEUROMUSCULAR DISORDERS, 2012, 22 : S3 - S3Liao, C.论文数: 0 引用数: 0 h-index: 0机构: Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandAshley, N.论文数: 0 引用数: 0 h-index: 0机构: Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandMorten, K.论文数: 0 引用数: 0 h-index: 0机构: Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandPhadwal, K.论文数: 0 引用数: 0 h-index: 0机构: Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandWilliams, A.论文数: 0 引用数: 0 h-index: 0机构: Northampton Gen Hosp, Dept Paediat, Northampton, England Northampton Gen Hosp, Dept Ophthalmol, Northampton, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandFearnley, I.论文数: 0 引用数: 0 h-index: 0机构: Northampton Gen Hosp, Dept Paediat, Northampton, England Northampton Gen Hosp, Dept Ophthalmol, Northampton, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandRosser, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandLowndes, J.论文数: 0 引用数: 0 h-index: 0机构: Churchill Hosp, Dept Clin Genet, Oxford OX3 7LJ, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandFratter, C.论文数: 0 引用数: 0 h-index: 0机构: Churchill Hosp, Mol Genet Labs, Oxford OX3 7LJ, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandFerguson, D.论文数: 0 引用数: 0 h-index: 0机构: Nuffield Dept Pathol, Oxford, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandVay, L.论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Dept Neuroradiol, Oxford OX3 9DU, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandQuaghebeur, G.论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Dept Neuroradiol, Oxford OX3 9DU, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandMacleod, L.论文数: 0 引用数: 0 h-index: 0机构: Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandGabriel, A.论文数: 0 引用数: 0 h-index: 0机构: Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandDownes, S.论文数: 0 引用数: 0 h-index: 0机构: Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandSimon, K.论文数: 0 引用数: 0 h-index: 0机构: Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandVotruba, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Cardiff Eye Unit, Cardiff, S Glam, Wales John Radcliffe Hosp, Dept Neuroradiol, Oxford OX3 9DU, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, EnglandPoulton, J.论文数: 0 引用数: 0 h-index: 0机构: Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford OX3 9DU, England Biomed Res Ctr, NIHR Translat Immunol Lab, Nuffield Dept Med, Oxford, England
- [32] NONSYNDROMIC PARKINSON DISEASE IN A FAMILY WITH AUTOSOMAL DOMINANT OPTIC ATROPHY DUE TO OPA1 MUTATIONSNEUROLOGY-GENETICS, 2017, 3 (05)Lynch, David S.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, Dept Mol Neurosci, London, EnglandLoh, Samantha H. Y.论文数: 0 引用数: 0 h-index: 0机构: MRC Toxicol Unit, Leicester, Leics, England UCL Inst Neurol, Dept Mol Neurosci, London, EnglandHarley, Jasmine论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, Dept Mol Neurosci, London, EnglandNoyce, Alastair J.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Reta Lila Weston Inst Neurol Studies, London, England UCL Inst Neurol, Dept Mol Neurosci, London, EnglandMartins, L. Miguel论文数: 0 引用数: 0 h-index: 0机构: MRC Toxicol Unit, Leicester, Leics, England UCL Inst Neurol, Dept Mol Neurosci, London, EnglandWood, Nicholas W.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, Dept Mol Neurosci, London, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London, England Natl Hosp Neurol & Neurosurg, Neurogenet Lab, London, England UCL Inst Neurol, Dept Mol Neurosci, London, EnglandPlun-Favreau, Helene论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, Dept Mol Neurosci, London, England
- [33] 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
- [34] A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophyGRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2007, 245 (10) : 1581 - 1583Ban, Yuriko论文数: 0 引用数: 0 h-index: 0机构: Nantan Gen Hosp, Dept Ophthalmol, Kyoto 6290197, JapanYoshida, Yusuke论文数: 0 引用数: 0 h-index: 0机构: Nantan Gen Hosp, Dept Ophthalmol, Kyoto 6290197, JapanKawasaki, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Nantan Gen Hosp, Dept Ophthalmol, Kyoto 6290197, JapanMochida, Chikako论文数: 0 引用数: 0 h-index: 0机构: Nantan Gen Hosp, Dept Ophthalmol, Kyoto 6290197, Japan
- [35] A Novel Missense OPA1 Mutation in a Patient with Dominant Optic Atrophy and Cervical DystoniaMOVEMENT DISORDERS CLINICAL PRACTICE, 2019, 6 (02): : 171 - 173Ortega-Suero, Gloria论文数: 0 引用数: 0 h-index: 0机构: IdISSC, Hosp Clin San Carlos, Neurogenet Unit, Dept Neurol, Madrid, Spain IdISSC, Hosp Clin San Carlos, Neurogenet Unit, Dept Neurol, Madrid, SpainFernandez-Matarrubia, Marta论文数: 0 引用数: 0 h-index: 0机构: IdISSC, Hosp Clin San Carlos, Neurogenet Unit, Dept Neurol, Madrid, Spain IdISSC, Hosp Clin San Carlos, Neurogenet Unit, Dept Neurol, Madrid, SpainLopez-Valdes, Eva论文数: 0 引用数: 0 h-index: 0机构: IdISSC, Hosp Clin San Carlos, Dept Neurol, Movement Disorders Unit, Madrid, Spain IdISSC, Hosp Clin San Carlos, Neurogenet Unit, Dept Neurol, Madrid, SpainArpa, Javier论文数: 0 引用数: 0 h-index: 0机构: IdISSC, Hosp Clin San Carlos, Neurogenet Unit, Dept Neurol, Madrid, Spain IdISSC, Hosp Clin San Carlos, Neurogenet Unit, Dept Neurol, Madrid, Spain
- [36] Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutationsEye, 2011, 25 : 596 - 602P Yu-Wai-Man论文数: 0 引用数: 0 h-index: 0机构: Mitochondrial Research Group,Department of OphthalmologyM Bailie论文数: 0 引用数: 0 h-index: 0机构: Mitochondrial Research Group,Department of OphthalmologyA Atawan论文数: 0 引用数: 0 h-index: 0机构: Mitochondrial Research Group,Department of OphthalmologyP F Chinnery论文数: 0 引用数: 0 h-index: 0机构: Mitochondrial Research Group,Department of OphthalmologyP G Griffiths论文数: 0 引用数: 0 h-index: 0机构: Mitochondrial Research Group,Department of Ophthalmology
- [37] A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophyGraefe's Archive for Clinical and Experimental Ophthalmology, 2007, 245 : 1581 - 1583Yuriko Ban论文数: 0 引用数: 0 h-index: 0机构: Nantan General Hospital,Department of OphthalmologyYusuke Yoshida论文数: 0 引用数: 0 h-index: 0机构: Nantan General Hospital,Department of OphthalmologySatoshi Kawasaki论文数: 0 引用数: 0 h-index: 0机构: Nantan General Hospital,Department of OphthalmologyChikako Mochida论文数: 0 引用数: 0 h-index: 0机构: Nantan General Hospital,Department of Ophthalmology
- [38] 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
- [39] Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutationsEYE, 2011, 25 (05) : 597 - 601Yu-Wai-Man, P.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Sch Med, Inst Ageing & Hlth, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Royal Victoria Infirm, Dept Ophthalmol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandBailie, M.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Dept Ophthalmol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandAtawan, A.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Dept Ophthalmol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandChinnery, P. F.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Sch Med, Inst Ageing & Hlth, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandGriffiths, P. G.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 3BZ, Tyne & Wear, England Royal Victoria Infirm, Dept Ophthalmol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
- [40] 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