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- [21] Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaptionMOLECULAR THERAPY-NUCLEIC ACIDS, 2021, 26 : 1186 - 1197Jueschke, Christoph论文数: 0 引用数: 0 h-index: 0机构: Carl von Ossietzky Univ Oldenburg, Fac Med & Hlth Sci, Human Genet, Ammerlander Heerstr 114-118, D-26129 Oldenburg, Germany Carl von Ossietzky Univ Oldenburg, Fac Med & Hlth Sci, Human Genet, Ammerlander Heerstr 114-118, D-26129 Oldenburg, GermanyKlopstock, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Univ Hosp, Friedrich Baur Inst, Dept Neurol,LMU Munich, D-80336 Munich, Germany German Ctr Neurodegenerat Dis DZNE, D-81377 Munich, Germany Munich Cluster Syst Neurol SyNergy, D-81377 Munich, Germany Carl von Ossietzky Univ Oldenburg, Fac Med & Hlth Sci, Human Genet, Ammerlander Heerstr 114-118, D-26129 Oldenburg, GermanyCatarino, Claudia B.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Univ Hosp, Friedrich Baur Inst, Dept Neurol,LMU Munich, D-80336 Munich, Germany Carl von Ossietzky Univ Oldenburg, Fac Med & Hlth Sci, Human Genet, Ammerlander Heerstr 114-118, D-26129 Oldenburg, GermanyOwczarek-Lipska, Marta论文数: 0 引用数: 0 h-index: 0机构: Carl von Ossietzky Univ Oldenburg, Fac Med & Hlth Sci, Human Genet, Ammerlander Heerstr 114-118, D-26129 Oldenburg, Germany Carl von Ossietzky Univ Oldenburg, Res Ctr Neurosensory Sci, D-26129 Oldenburg, Germany Carl von Ossietzky Univ Oldenburg, Jr Res Grp, Genet Childhood Brain Malformat, Fac Sch Med & Hlth Sci 6, D-26129 Oldenburg, Germany Carl von Ossietzky Univ Oldenburg, Fac Med & Hlth Sci, Human Genet, Ammerlander Heerstr 114-118, D-26129 Oldenburg, GermanyWissinger, Bernd论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, D-72076 Tubingen, Germany Carl von Ossietzky Univ Oldenburg, Fac Med & Hlth Sci, Human Genet, Ammerlander Heerstr 114-118, D-26129 Oldenburg, GermanyNeidhardt, John论文数: 0 引用数: 0 h-index: 0机构: Carl von Ossietzky Univ Oldenburg, Fac Med & Hlth Sci, Human Genet, Ammerlander Heerstr 114-118, D-26129 Oldenburg, Germany Carl von Ossietzky Univ Oldenburg, Res Ctr Neurosensory Sci, D-26129 Oldenburg, Germany Carl von Ossietzky Univ Oldenburg, Fac Med & Hlth Sci, Joint Res Training Grp, D-26129 Oldenburg, Germany Univ Med Ctr Groningen, NL-9700 RB Groningen, Netherlands Carl von Ossietzky Univ Oldenburg, Fac Med & Hlth Sci, Human Genet, Ammerlander Heerstr 114-118, D-26129 Oldenburg, Germany
- [22] 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
- [23] OPA1 analysis in an international series of probands with bilateral optic atrophyACTA OPHTHALMOLOGICA, 2017, 95 (04) : 363 - 369Liskova, Petra论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, Prague, Czech Republic Gen Univ Hosp Prague, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Dept Ophthalmol, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, Prague, Czech RepublicTesarova, Marketa论文数: 0 引用数: 0 h-index: 0机构: Gen Univ Hosp Prague, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Dept Paediat & Adolescent Med, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, Prague, Czech RepublicDudakova, Lubica论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, Prague, Czech Republic Gen Univ Hosp Prague, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, Prague, Czech RepublicSvecova, Stepanka论文数: 0 引用数: 0 h-index: 0机构: Gen Univ Hosp Prague, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Dept Paediat & Adolescent Med, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, Prague, Czech RepublicKolarova, Hana论文数: 0 引用数: 0 h-index: 0机构: Gen Univ Hosp Prague, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Dept Paediat & Adolescent Med, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, Prague, Czech RepublicHonzik, Tomas论文数: 0 引用数: 0 h-index: 0机构: Gen Univ Hosp Prague, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Dept Paediat & Adolescent Med, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, Prague, Czech RepublicSeto, Sharon论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Wales, Cardiff Eye Unit, Cardiff, S Glam, Wales Cardiff Univ, Sch Optometry & Vis Sci, Maindy Rd, Cardiff CF24 4HQ, S Glam, Wales Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, Prague, Czech RepublicVotruba, Marcela论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Wales, Cardiff Eye Unit, Cardiff, S Glam, Wales Cardiff Univ, Sch Optometry & Vis Sci, Maindy Rd, Cardiff CF24 4HQ, S Glam, Wales Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, Prague, Czech Republic
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- [25] 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
- [26] First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case reportBMC MEDICAL GENETICS, 2020, 21 (01)Weisschuh, Nicole论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Tubingen, Germany Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Tubingen, GermanyMazzola, Pascale论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Tubingen, GermanyHeinrich, Tilman论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Tubingen, Ctr Rare Dis, Tubingen, Germany Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Tubingen, GermanyHaack, Tobias论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Tubingen, Ctr Rare Dis, Tubingen, Germany Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Tubingen, GermanyWissinger, Bernd论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Tubingen, Germany Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Tubingen, GermanyTonagel, Felix论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, Tubingen, Germany Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Tubingen, GermanyKelbsch, Carina论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, Tubingen, Germany Univ Tubingen, Ctr Ophthalmol, Inst Ophthalm Res, Tubingen, Germany
- [27] A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian familyJOURNAL OF NEUROLOGY, 2015, 262 (10) : 2323 - 2328Ahmad, K. E.论文数: 0 引用数: 0 h-index: 0机构: Royal N Shore Hosp, Dept Neurol, Sydney, NSW, Australia Royal N Shore Hosp, Dept Neurol, Sydney, NSW, AustraliaDavis, R. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Kolling Inst Med Res, Dept Neurogenet, Sydney, NSW 2065, Australia Royal N Shore Hosp, Sydney, NSW 2065, Australia Royal N Shore Hosp, Dept Neurol, Sydney, NSW, AustraliaSue, C. M.论文数: 0 引用数: 0 h-index: 0机构: Royal N Shore Hosp, Dept Neurol, Sydney, NSW, Australia Univ Sydney, Kolling Inst Med Res, Dept Neurogenet, Sydney, NSW 2065, Australia Royal N Shore Hosp, Sydney, NSW 2065, Australia Royal N Shore Hosp, Dept Neurol, Sydney, NSW, Australia
- [28] Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathyBRAIN, 2010, 133 : 2942 - 2951Williams, Pete A.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, Wales Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, WalesMorgan, James E.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, Wales Univ Wales Hosp, Cardiff Eye Unit, Cardiff C14 4XW, Wales Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, WalesVotruba, Marcela论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, Wales Univ Wales Hosp, Cardiff Eye Unit, Cardiff C14 4XW, Wales Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, Wales
- [29] Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutationsNEUROLOGY, 2017, 88 (02) : 131 - 142Liao, Chunyan论文数: 0 引用数: 0 h-index: 0机构: Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandAshley, Neil论文数: 0 引用数: 0 h-index: 0机构: Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandDiot, Alan论文数: 0 引用数: 0 h-index: 0机构: Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandMorten, Karl论文数: 0 引用数: 0 h-index: 0机构: Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandPhadwal, Kanchan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 Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandWilliams, Andrew论文数: 0 引用数: 0 h-index: 0机构: Northampton Gen Hosp, Dept Paediat, Cardiff, S Glam, Wales Northampton Gen Hosp, Dept Ophthalmol, Cardiff, S Glam, Wales Northampton Gen Hosp, Virtual Acad Unit, Cardiff, S Glam, Wales Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandFearnley, Ian论文数: 0 引用数: 0 h-index: 0机构: Northampton Gen Hosp, Dept Paediat, Cardiff, S Glam, Wales Northampton Gen Hosp, Dept Ophthalmol, Cardiff, S Glam, Wales Northampton Gen Hosp, Virtual Acad Unit, Cardiff, S Glam, Wales Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandRosser, Lyndon论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Med Genet, Cardiff, S Glam, Wales Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandLowndes, Jo论文数: 0 引用数: 0 h-index: 0机构: Churchill Hosp, Dept Clin Genet, Oxford, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandFratter, Carl论文数: 0 引用数: 0 h-index: 0机构: Churchill Hosp, Oxford Med Genet Labs, Oxford, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandFerguson, David J. P.论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Trust, Nuffield Div Clin Lab Sci, Oxford, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandVay, Laura论文数: 0 引用数: 0 h-index: 0机构: Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, England CSIC, Inst Cajal, Mol Cellular & Dev Neurobiol Dept, Madrid, Spain Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandQuaghebeur, Gerardine论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Trust, Dept Neuroradiol, Oxford, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandMoroni, Isabella论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Carlo Besta Neurol Inst, Dept Child Neurol, Milan, Italy Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandBianchi, Stefania论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Auxol Inst, Serv Neuroophthalmol & Eye Electrophysiol, Milan, Italy Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandLamperti, Costanza论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Carlo Besta Neurol Inst, Div Mol Neurogenet, Milan, Italy Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandDownes, Susan M.论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Dept Ophthalmol, Oxford, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandSitarz, Kamil S.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Genet Med, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandFlannery, Padraig J.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Genet Med, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandCarver, Janet论文数: 0 引用数: 0 h-index: 0机构: Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandDombi, Eszter论文数: 0 引用数: 0 h-index: 0机构: Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandEast, Daniel论文数: 0 引用数: 0 h-index: 0机构: Univ London, Royal Vet Coll, Dept Comparat Biomed Sci, London WC1E 7HU, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, Englandlaura, Matilde论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Disorders, Dept Mol Neurosci, Queen Sq, London, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Disorders, Dept Mol Neurosci, Queen Sq, London, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandMortiboys, Heather论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Sheffield Inst Translat Neurosci, Sheffield S10 2TN, S Yorkshire, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandPrevo, Remko论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, CRUK, MRC Oxford Inst Radiat Oncol, Oxford OX1 2JD, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, England论文数: 引用数: h-index:机构:Daniels, Matthew J.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Div Cardiovasc Med, Radcliffe Dept Med, Oxford OX1 2JD, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandZeviani, Massimo论文数: 0 引用数: 0 h-index: 0机构: MRC Mitochondrial Biol Unit, Cambridge, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandYu-Wai-Man, Patrick论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Genet Med, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Newcastle Eye Ctr, Newcastle Upon Tyne, Tyne & Wear, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandSimon, Anna Katharina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 Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandVotruba, Marcela论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Cardiff Eye Unit, Cardiff, S Glam, Wales Moorfields Eye Hosp, NIHR Biomed Res Ctr, London, England UCL Inst Ophthalmol, London, England Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF10 3AX, S Glam, Wales Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, EnglandPoulton, Joanna论文数: 0 引用数: 0 h-index: 0机构: Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, England Womens Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, England
- [30] Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>CMETABOLIC BRAIN DISEASE, 2019, 34 (04) : 1023 - 1027Finsterer, Josef论文数: 0 引用数: 0 h-index: 0机构: Krankenanstalt Rudolfstiftung Wien, Messerli Inst, Postfach 20, A-1180 Vienna, Austria Krankenanstalt Rudolfstiftung Wien, Messerli Inst, Postfach 20, A-1180 Vienna, AustriaLaccone, Franco论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Inst Med Genet, Wahringer Str 10, A-1090 Vienna, Austria Krankenanstalt Rudolfstiftung Wien, Messerli Inst, Postfach 20, A-1180 Vienna, Austria