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- [1] 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
- [2] OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophyGENETICS IN MEDICINE, 2006, 8 (04) : 217 - 225Han, J论文数: 0 引用数: 0 h-index: 0机构: Mercer Univ, Sch Med, Dept Basic Med Sci, Macon, GA 31207 USAThompson-Lowrey, AJ论文数: 0 引用数: 0 h-index: 0机构: Mercer Univ, Sch Med, Dept Basic Med Sci, Macon, GA 31207 USAReiss, A论文数: 0 引用数: 0 h-index: 0机构: Mercer Univ, Sch Med, Dept Basic Med Sci, Macon, GA 31207 USAMayorov, V论文数: 0 引用数: 0 h-index: 0机构: Mercer Univ, Sch Med, Dept Basic Med Sci, Macon, GA 31207 USAJlia, H论文数: 0 引用数: 0 h-index: 0机构: Mercer Univ, Sch Med, Dept Basic Med Sci, Macon, GA 31207 USABiousse, V论文数: 0 引用数: 0 h-index: 0机构: Mercer Univ, Sch Med, Dept Basic Med Sci, Macon, GA 31207 USANewman, NJ论文数: 0 引用数: 0 h-index: 0机构: Mercer Univ, Sch Med, Dept Basic Med Sci, Macon, GA 31207 USABrown, MD论文数: 0 引用数: 0 h-index: 0机构: Mercer Univ, Sch Med, Dept Basic Med Sci, Macon, GA 31207 USA
- [3] 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
- [4] OPA1 mutations in Finnish families with dominant optic atrophy (DOA)AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 580 - 580Puomila, A论文数: 0 引用数: 0 h-index: 0机构: Turku Univ, Dept Med Genet, Turku, FinlandPaananen, R论文数: 0 引用数: 0 h-index: 0机构: Turku Univ, Dept Med Genet, Turku, FinlandMäntyjärvi, M论文数: 0 引用数: 0 h-index: 0机构: Turku Univ, Dept Med Genet, Turku, FinlandSankila, EM论文数: 0 引用数: 0 h-index: 0机构: Turku Univ, Dept Med Genet, Turku, FinlandSomer, M论文数: 0 引用数: 0 h-index: 0机构: Turku Univ, Dept Med Genet, Turku, FinlandSavontaus, ML论文数: 0 引用数: 0 h-index: 0机构: Turku Univ, Dept Med Genet, Turku, FinlandNikoskelainen, E论文数: 0 引用数: 0 h-index: 0机构: Turku Univ, Dept Med Genet, Turku, FinlandHuoponen, K论文数: 0 引用数: 0 h-index: 0机构: Turku Univ, Dept Med Genet, Turku, Finland
- [5] Novel Mutations of the OPA1 Gene in Chinese Dominant Optic AtrophyOPHTHALMOLOGY, 2010, 117 (02) : 392 - 396Yen, May-Yung论文数: 0 引用数: 0 h-index: 0机构: Taipei Vet Gen Hosp, Dept Ophthalmol, Taipei 11217, Taiwan Natl Yang Ming Univ, Sch Med, Taipei 112, Taiwan Taipei Vet Gen Hosp, Dept Ophthalmol, Taipei 11217, TaiwanWang, An-Guor论文数: 0 引用数: 0 h-index: 0机构: Taipei Vet Gen Hosp, Dept Ophthalmol, Taipei 11217, Taiwan Natl Yang Ming Univ, Sch Med, Taipei 112, Taiwan Natl Yang Ming Univ, Inst Neurosci, Taipei 112, Taiwan Taipei Vet Gen Hosp, Dept Ophthalmol, Taipei 11217, TaiwanLin, Yen-Ching论文数: 0 引用数: 0 h-index: 0机构: Lotung Poh Ai Hosp, Dept Ophthalmol, Yi Lan, Taiwan Taipei Vet Gen Hosp, Dept Ophthalmol, Taipei 11217, TaiwanFann, Ming-Ji论文数: 0 引用数: 0 h-index: 0机构: Natl Yang Ming Univ, Inst Neurosci, Taipei 112, Taiwan Natl Yang Ming Univ, Dept Life Sci, Taipei 112, Taiwan Natl Yang Ming Univ, Inst Genome Sci, Taipei 112, Taiwan Taipei Vet Gen Hosp, Dept Ophthalmol, Taipei 11217, TaiwanHsiao, Kwang-Jen论文数: 0 引用数: 0 h-index: 0机构: Taipei Vet Gen Hosp, Dept Med Res & Educ, Taipei 11217, Taiwan Taipei Vet Gen Hosp, Dept Ophthalmol, Taipei 11217, Taiwan
- [6] Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophyJOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 2017, 21 (10) : 2284 - 2297Kane, Mariame Selma论文数: 0 引用数: 0 h-index: 0机构: Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, France Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, FranceAlban, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, France Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, FranceDesquiret-Dumas, Valerie论文数: 0 引用数: 0 h-index: 0机构: Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, France Ctr Hospitalier Univ, Dept Biochim & Genet, Angers, France Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, FranceGueguen, Naig论文数: 0 引用数: 0 h-index: 0机构: Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, France Ctr Hospitalier Univ, Dept Biochim & Genet, Angers, France Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, FranceIshak, Layal论文数: 0 引用数: 0 h-index: 0机构: RGM4645 Univ Blaise Pascal, Aubiere, France Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, France论文数: 引用数: h-index:机构:Amati-Bonneau, Patrizia论文数: 0 引用数: 0 h-index: 0机构: Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, France Ctr Hospitalier Univ, Dept Biochim & Genet, Angers, France Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, FranceProcaccio, Vincent论文数: 0 引用数: 0 h-index: 0机构: Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, France Ctr Hospitalier Univ, Dept Biochim & Genet, Angers, France Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, FranceBonneau, Dominique论文数: 0 引用数: 0 h-index: 0机构: Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, France Ctr Hospitalier Univ, Dept Biochim & Genet, Angers, France Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, FranceLenaers, Guy论文数: 0 引用数: 0 h-index: 0机构: Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, France Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, FranceReynier, Pascal论文数: 0 引用数: 0 h-index: 0机构: Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, France Ctr Hospitalier Univ, Dept Biochim & Genet, Angers, France Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, FranceChevrollier, Arnaud论文数: 0 引用数: 0 h-index: 0机构: Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, France Univ Angers, CHU Angers, INSERM U1083,CNRS UMR 6015, PREMMi Mitochondrial Med Res Ctr,Inst MITOVASC, Angers, France
- [7] Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophyHUMAN MOLECULAR GENETICS, 2001, 10 (13) : 1369 - 1378Toomes, C论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, EnglandMarchbank, NJ论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, EnglandMackey, DA论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, EnglandCraig, JE论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, EnglandNewbury-Ecob, RA论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, EnglandBennett, CP论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, EnglandVize, CJ论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, EnglandDesai, SP论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, EnglandBlack, GCM论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, EnglandPatel, N论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, EnglandTeimory, M论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, EnglandMarkham, AF论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, EnglandInglehearn, CF论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, EnglandChurchill, AJ论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, England
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