Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies
暂无分享,去创建一个
[1] L. Tranebjærg. Deafness-Dystonia-Optic Neuronopathy Syndrome , 2013 .
[2] D. Turnbull,et al. Treatment for mitochondrial disorders. , 2012, The Cochrane database of systematic reviews.
[3] G. Holder,et al. Tobacco optic neuropathy (TON) – the historical and present concept of the disease , 2011, Acta ophthalmologica.
[4] N. Newman,et al. Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies. , 2011, Ophthalmology.
[5] P. Chinnery,et al. OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy , 2010, Brain : a journal of neurology.
[6] Ester Perales-Clemente,et al. Allotopic expression of mitochondrial-encoded genes in mammals: achieved goal, undemonstrated mechanism or impossible task? , 2010, Nucleic Acids Res..
[7] P. Chinnery,et al. How can we treat mitochondrial encephalomyopathies? approaches to therapy , 2008, Neurotherapeutics.
[8] M. King,et al. What limits the allotopic expression of nucleus-encoded mitochondrial genes? The case of the chimeric Cox3 and Atp6 genes. , 2011, Mitochondrion.
[9] A. Martinuzzi,et al. Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy. , 2011, Brain : a journal of neurology.
[10] Stéphane Schmucker,et al. Understanding the Molecular Mechanisms of Friedreich′s Ataxia to Develop Therapeutic Approaches , 2010 .
[11] Pete A. Williams,et al. Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy. , 2010, Brain : a journal of neurology.
[12] A. Echaniz-Laguna,et al. POLG1 variations presenting as multiple sclerosis. , 2010, Archives of neurology.
[13] Yong-Gang Yao,et al. No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A , 2010, Human Genetics.
[14] Robert W. Taylor,et al. The prevalence and natural history of dominant optic atrophy due to OPA1 mutations. , 2010, Ophthalmology.
[15] M. Zeviani,et al. OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. , 2010, Ophthalmology.
[16] M. Huizing,et al. A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3 , 2010, Development.
[17] G. Cantalupo,et al. Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies. , 2010, Brain : a journal of neurology.
[18] D. Milea,et al. Never too old to harbour a young man's disease? , 2010, British Journal of Ophthalmology.
[19] V. Carelli,et al. Visual evoked potentials findings in non-affected subjects from a large Brazilian pedigree of 11778 Leber’s hereditary optic neuropathy , 2010, Documenta Ophthalmologica.
[20] C. E. Larkins,et al. Mitochondrial retention of Opa1 is required for mouse embryogenesis , 2010, Mammalian Genome.
[21] Mark Ellisman,et al. Increased optic atrophy type 1 expression protects retinal ganglion cells in a mouse model of glaucoma , 2010, Molecular vision.
[22] N. Newman,et al. The neuro-ophthalmology of mitochondrial disease. , 2010, Survey of ophthalmology.
[23] T. Yagi,et al. Successful Amelioration of Mitochondrial Optic Neuropathy Using the Yeast NDI1 Gene in a Rat Animal Model , 2010, PloS one.
[24] M. Vaphiades,et al. Drug-induced optic neuropathy-TB or not TB. , 2010, Survey of ophthalmology.
[25] D. Mackey,et al. Genetics: Optic nerve genetics—more than meets the eye , 2010, Nature Reviews Neurology.
[26] T. Stemmler,et al. Frataxin and Mitochondrial FeS Cluster Biogenesis* , 2010, The Journal of Biological Chemistry.
[27] E. Bartnik,et al. Genotype-phenotype correlations in Leber hereditary optic neuropathy. , 2010, Biochimica et biophysica acta.
[28] S. Dimauro,et al. Therapeutic prospects for mitochondrial disease. , 2010, Trends in molecular medicine.
[29] Hans-Peter Braun,et al. Structure and function of mitochondrial supercomplexes. , 2010, Biochimica et biophysica acta.
[30] W. Gahl,et al. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. , 2010, Molecular genetics and metabolism.
[31] G. Ying,et al. Longitudinal study of vision and retinal nerve fiber layer thickness in multiple sclerosis , 2010, Annals of neurology.
[32] P. Chinnery,et al. OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules , 2010, Human molecular genetics.
[33] Takeo Kato,et al. Mutations of optineurin in amyotrophic lateral sclerosis , 2010, Nature.
[34] P. Sørensen,et al. The changing demographic pattern of multiple sclerosis epidemiology , 2010, The Lancet Neurology.
[35] S. Park,et al. Antituberculosis medication as a possible epigenetic factor of Leber's hereditary optic neuropathy , 2010, Clinical & experimental ophthalmology.
[36] Yusuke Nakamura,et al. Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand , 2010, Human Genetics.
[37] N. Miller,et al. Sustained neuroprotection after a single intravitreal injection of PGJ2 in a rodent model of NAION , 2010 .
[38] F. Rahman,et al. Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy , 2010, Molecular vision.
[39] M. Golomb,et al. Is it ADEM, POLG, or both? , 2010, Archives of neurology.
[40] Chulhee Choi,et al. Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation , 2010, Cellular and Molecular Life Sciences.
[41] P. Matarrese,et al. Proteomic analysis identifies prohibitin down-regulation as a crucial event in the mitochondrial damage observed in HIV-infected patients , 2010, Antiviral therapy.
[42] D. Milea,et al. Selective wavelength pupillometry in Leber hereditary optic neuropathy , 2010, Clinical & experimental ophthalmology.
[43] Y. Yang,et al. Chloramphenicol Causes Mitochondrial Stress, Decreases ATP Biosynthesis, Induces Matrix Metalloproteinase-13 Expression, and Solid-Tumor Cell Invasion , 2010, Toxicological sciences : an official journal of the Society of Toxicology.
[44] Xueshan Xiao,et al. Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese , 2010, Molecular vision.
[45] Patrick F Chinnery,et al. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease , 2010, Nature.
[46] P. Heiduschka,et al. Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy. , 2010, Investigative ophthalmology & visual science.
[47] D. Bonneau,et al. Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity. , 2010, Mitochondrion.
[48] G. Savini,et al. Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography. , 2010, Ophthalmology.
[49] R. Ritch,et al. Visual field progression differences between normal-tension and exfoliative high-tension glaucoma. , 2010, Investigative ophthalmology & visual science.
[50] J. Heymann,et al. OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation , 2010, Human molecular genetics.
[51] D. Turnbull,et al. Multi-system neurological disease is common in patients with OPA1 mutations , 2010, Brain : a journal of neurology.
[52] M. Mancuso,et al. Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy , 2010, Neuromuscular Disorders.
[53] P. Reddy,et al. Is multiple sclerosis a mitochondrial disease? , 2009, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.
[54] M. Larsen,et al. Axonal loss occurs early in dominant optic atrophy , 2009, Acta ophthalmologica.
[55] F. Verde,et al. Microtubule-dependent spatial organization of mitochondria in fission yeast. , 2010, Methods in cell biology.
[56] S. Di Giovanni,et al. Valproic acid-mediated neuroprotection and regeneration in injured retinal ganglion cells. , 2010, Investigative ophthalmology & visual science.
[57] J. Gal,et al. Mitochondrial dysfunction in amyotrophic lateral sclerosis. , 2010, Biochimica et biophysica acta.
[58] E. Rugarli,et al. Emerging roles of mitochondrial proteases in neurodegeneration. , 2010, Biochimica et biophysica acta.
[59] J. Seo,et al. Comparison of retinal nerve fibre layers between 11778 and 14484 mutations in Leber's hereditary optic neuropathy , 2010, Eye.
[60] Ian A Sigal,et al. 3D morphometry of the human optic nerve head. , 2010, Experimental eye research.
[61] K. Ray,et al. Molecular complexity of primary open angle glaucoma: current concepts , 2009, Journal of Genetics.
[62] E. Holme,et al. Ophthalmological findings in children and young adults with genetically verified mitochondrial disease , 2009, British Journal of Ophthalmology.
[63] P. Chinnery,et al. The inheritance of pathogenic mitochondrial DNA mutations , 2009, Biochimica et biophysica acta.
[64] S. Dimauro,et al. A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases. , 2009, Biochimica et biophysica acta.
[65] V. Kostic,et al. Brain white matter 1 H MRS in Leber optic neuropathy mutation carriers. , 2009, Acta neurologica Belgica.
[66] Anna Ghelli,et al. The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity , 2009, PloS one.
[67] Jacqueline A Palace. Multiple sclerosis associated with Leber's Hereditary Optic Neuropathy , 2009, Journal of the Neurological Sciences.
[68] A. Starr,et al. Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals , 2009, Brain Research.
[69] D. Chan,et al. Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases , 2009, Human molecular genetics.
[70] Yuyu Song,et al. Axonal Transport Defects in Neurodegenerative Diseases , 2009, The Journal of Neuroscience.
[71] G. Lenaers,et al. OPA1 functions in mitochondria and dysfunctions in optic nerve. , 2009, The international journal of biochemistry & cell biology.
[72] Nektarios Tavernarakis,et al. Prohibitin and mitochondrial biology , 2009, Trends in Endocrinology & Metabolism.
[73] M. Votruba,et al. Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy. , 2009, Investigative ophthalmology & visual science.
[74] B. Müller-Myhsok,et al. Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study , 2009, BMC Medical Genetics.
[75] N. Newman. Leber hereditary optic neuropathy: bad habits, bad vision? , 2009, Brain : a journal of neurology.
[76] K. Ocorr,et al. Heterozygous Mutation of Drosophila Opa1 Causes the Development of Multiple Organ Abnormalities in an Age-Dependent and Organ-Specific Manner , 2009, PloS one.
[77] Y. Li,et al. Mitochondrial Gene Replacement in Primate Offspring and Embryonic Stem Cells , 2009, Nature.
[78] J. Martinou,et al. Role of mitofusin 2 mutations in the physiopathology of Charcot–Marie–Tooth disease type 2A , 2009, Experimental Neurology.
[79] J. Montaner,et al. OPHTHALMOPLEGIA AND PTOSIS: MITOCHONDRIAL TOXICITY IN PATIENTS RECEIVING HIV THERAPY , 2009, Neurology.
[80] P. Chinnery,et al. OPA1 increases the risk of normal but not high tension glaucoma , 2009, Journal of Medical Genetics.
[81] P. Chinnery,et al. Quality of life in patients with leber hereditary optic neuropathy. , 2009, Investigative ophthalmology & visual science.
[82] Jin-wei Cheng,et al. Meta-analysis of medical intervention for normal tension glaucoma. , 2009, Ophthalmology.
[83] D. Milea,et al. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations , 2009, Human mutation.
[84] Davide Pareyson,et al. Diagnosis, natural history, and management of Charcot–Marie–Tooth disease , 2009, The Lancet Neurology.
[85] P. Chinnery,et al. Gene–environment interactions in Leber hereditary optic neuropathy , 2009, Brain : a journal of neurology.
[86] Michael S. Lee,et al. Another case of leber hereditary optic neuropathy in an octogenarian. , 2009, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[87] D. Turnbull,et al. OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy. , 2009, Investigative ophthalmology & visual science.
[88] P. Hanson,et al. Edinburgh Research Explorer Mitochondrial Changes within Axons in Multiple Sclerosis Mitochondrial Changes within Axons in Multiple Sclerosis , 2022 .
[89] R. Weinreb,et al. Experimental detection of retinal ganglion cell damage in vivo. , 2009, Experimental eye research.
[90] Ian A Sigal,et al. Biomechanics of the optic nerve head. , 2009, Experimental eye research.
[91] A. Munnich,et al. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. , 2009, American journal of human genetics.
[92] G. Savini,et al. Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. , 2009, Investigative ophthalmology & visual science.
[93] A. Toutain,et al. Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect , 2009, Molecular vision.
[94] J. Hwang,et al. Ethambutol-induced toxicity is mediated by zinc and lysosomal membrane permeabilization in cultured retinal cells. , 2009, Toxicology and applied pharmacology.
[95] G. Egea,et al. Mutant huntingtin impairs post-Golgi trafficking to lysosomes by delocalizing optineurin/Rab8 complex from the Golgi apparatus. , 2009, Molecular biology of the cell.
[96] Jeong-Min Hwang,et al. Early Stage Ethambutol Optic Neuropathy: Retinal Nerve Fiber Layer and Optical Coherence Tomography , 2009, European journal of ophthalmology.
[97] D. Wallace,et al. Heterozygous Mutation of Opa1 in Drosophila Shortens Lifespan Mediated through Increased Reactive Oxygen Species Production , 2009, PloS one.
[98] Mark Ellisman,et al. Memantine blocks mitochondrial OPA1 and cytochrome c release and subsequent apoptotic cell death in glaucomatous retina. , 2009, Investigative ophthalmology & visual science.
[99] S. Hayreh. Ischemic optic neuropathy , 2009, Progress in Retinal and Eye Research.
[100] P. Chinnery,et al. Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy , 2008, Journal of Medical Genetics.
[101] Mark Ellisman,et al. Elevated hydrostatic pressure triggers release of OPA1 and cytochrome C, and induces apoptotic cell death in differentiated RGC-5 cells , 2007, Molecular vision.
[102] J. D. Cascajosa,et al. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders , 2009 .
[103] R. Penne. Frontalis sling operation using silicone rod for the correction of ptosis in chronic progressive external ophthalmoplegia , 2009 .
[104] M. Zeviani,et al. Mitochondrial diseases: a cross-talk between mitochondrial and nuclear genomes. , 2009, Advances in experimental medicine and biology.
[105] V. Felipo,et al. Inherited neuromuscular diseases. Translation from pathomechanisms to therapies. , 2009, Advances in experimental medicine and biology.
[106] D. Manners,et al. Visual system involvement in patients with Friedreich's ataxia. , 2009, Brain : a journal of neurology.
[107] M. Zeviani,et al. Clinical and molecular features of mitochondrial DNA depletion syndromes , 2009, Journal of Inherited Metabolic Disease.
[108] R. Weinreb,et al. Glutamate receptor activation triggers OPA1 release and induces apoptotic cell death in ischemic rat retina , 2008, Molecular vision.
[109] Eduardo Ruiz-Pesini,et al. Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. , 2008, Human molecular genetics.
[110] H. Bandelt,et al. Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation. , 2008, American journal of human genetics.
[111] Eun Ji Lee,et al. Incidence and Clinical Features of Ethambutol-Induced Optic Neuropathy in Korea , 2008, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[112] James G Fujimoto,et al. Optical coherence tomography: a window into the mechanisms of multiple sclerosis , 2008, Nature Clinical Practice Neurology.
[113] Christos Proukakis,et al. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms , 2008, The Lancet Neurology.
[114] D. Turnbull,et al. OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS , 2008, Neurology.
[115] A. Martinuzzi,et al. Antioxidants partially restore glutamate transport defect in leber hereditary optic neuropathy cybrids , 2008, Journal of neuroscience research.
[116] P. Chinnery,et al. Inherited mitochondrial optic neuropathies , 2008, Journal of Medical Genetics.
[117] J. Christodoulou,et al. Costeff optic atrophy syndrome: New clinical case and novel molecular findings , 2008, Journal of Inherited Metabolic Disease.
[118] M. Bortolozzi,et al. A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. , 2008, Human molecular genetics.
[119] C. Mawrin,et al. The G11778A LHON mutation does not enhance ethambutol cytotoxicity in a cybrid model. , 2008, Clinical neuropathology.
[120] Mark Ellisman,et al. Intraocular pressure elevation induces mitochondrial fission and triggers OPA1 release in glaucomatous optic nerve. , 2008, Investigative ophthalmology & visual science.
[121] P. Garcia-Filion,et al. The syndrome of optic nerve hypoplasia , 2008, Current neurology and neuroscience reports.
[122] M. Tarnopolsky. The mitochondrial cocktail: rationale for combined nutraceutical therapy in mitochondrial cytopathies. , 2008, Advanced drug delivery reviews.
[123] J. Sahel,et al. Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. , 2008, American journal of human genetics.
[124] P. Chinnery,et al. Pathogenic Mitochondrial DNA Mutations Are Common in the General Population , 2008, American journal of human genetics.
[125] D. Mackey,et al. The natural history of OPA1-related autosomal dominant optic atrophy , 2008, British Journal of Ophthalmology.
[126] G. Swarup,et al. Focus on molecules: optineurin. , 2008, Experimental eye research.
[127] Amy Conger,et al. Retinal imaging by laser polarimetry and optical coherence tomography evidence of axonal degeneration in multiple sclerosis. , 2008, Archives of neurology.
[128] E. Müller,et al. Characterization of OPA1 isoforms isolated from mouse tissues , 2008, Journal of neurochemistry.
[129] A. Lee,et al. You're too old for that. , 2008, Survey of ophthalmology.
[130] R. Youle,et al. Mitochondrial dynamics and apoptosis. , 2008, Genes & development.
[131] P. Chinnery,et al. Leber hereditary optic neuropathy presenting in a 75-year-old man. , 2008, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[132] D. Milea,et al. Hereditary optic neuropathies share a common mitochondrial coupling defect , 2008, Annals of neurology.
[133] Guang-Yu Li,et al. Light affects mitochondria to cause apoptosis to cultured cells: possible relevance to ganglion cell death in certain optic neuropathies , 2008, Journal of neurochemistry.
[134] Amie J Dirks Naylor,et al. Mechanisms of Zidovudine-Induced Mitochondrial Toxicity and Myopathy , 2008, Pharmacology.
[135] Joan W. Miller. Preliminary results of gene therapy for retinal degeneration. , 2008, The New England journal of medicine.
[136] R. Lightowlers,et al. Progress and prospects: gene therapy for mitochondrial DNA disease , 2008, Gene Therapy.
[137] D. Wallace,et al. Reversible optic neuropathy with OPA1 exon 5b mutation , 2008, Annals of neurology.
[138] M. K. Walsh,et al. In vivo time-lapse fluorescence imaging of individual retinal ganglion cells in mice , 2008, Journal of Neuroscience Methods.
[139] D. Bonneau,et al. MULTIPLE SCLEROSIS–LIKE DISORDER IN OPA1-RELATED AUTOSOMAL DOMINANT OPTIC ATROPHY , 2008, Neurology.
[140] V. Carelli,et al. Myelin, mitochondria, and autoimmunity , 2008, Neurology.
[141] A. Torroni,et al. Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus , 2008, Neurology.
[142] M. Zeviani,et al. 155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21–23 September 2007, Naarden, The Netherlands , 2008, Neuromuscular Disorders.
[143] R. Schwarzenbacher,et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. , 2008, Brain : a journal of neurology.
[144] Robert W. Taylor,et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. , 2008, Brain : a journal of neurology.
[145] M. Zeviani. OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape. , 2008, Brain : a journal of neurology.
[146] A. Martinuzzi,et al. Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids. , 2008, Investigative ophthalmology & visual science.
[147] K. Khrapko. Two ways to make an mtDNA bottleneck , 2008, Nature Genetics.
[148] Jennifer R. Davies,et al. A missense mutation in the murine Opa3 gene models human Costeff syndrome. , 2008, Brain : a journal of neurology.
[149] R. Youle,et al. OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. , 2008, Brain : a journal of neurology.
[150] A. Quattrone,et al. A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation , 2008, Journal of Neurology.
[151] Robert W. Taylor,et al. Prevalence of mitochondrial DNA disease in adults , 2008, Annals of neurology.
[152] V. Sheffield,et al. Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy , 2008, Ophthalmic genetics.
[153] D. Wallace,et al. The Molecular Mechanisms of OPA1-Mediated Optic Atrophy in Drosophila Model and Prospects for Antioxidant Treatment , 2008, PLoS genetics.
[154] Caterina Tonon,et al. Idebenone in Friedreich's ataxia. , 2008, Expert opinion on pharmacotherapy.
[155] M. Cordeiro,et al. Assessment of neuroprotection in the retina with DARC , 2008, Progress in brain research.
[156] S. Dimauro,et al. Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. , 2008, Archives of neurology.
[157] David R Williams,et al. In vivo imaging of the fine structure of rhodamine-labeled macaque retinal ganglion cells. , 2008, Investigative ophthalmology & visual science.
[158] H. Smeets,et al. X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy. , 2007, Molecular vision.
[159] Tae-Woo Kim,et al. Stratus OCT in Dominant Optic Atrophy: Features Differentiating it From Glaucoma , 2007, Journal of glaucoma.
[160] K. Shinoda,et al. Woman with atypical unilateral Leber's hereditary optic neuropathy with visual improvement. , 2007, Clinical & experimental ophthalmology.
[161] K. Fischbeck,et al. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial , 2007, The Lancet Neurology.
[162] I. Boldogh,et al. Mitochondria on the move. , 2007, Trends in cell biology.
[163] H. Yatsuya,et al. Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations. , 2007, Investigative ophthalmology & visual science.
[164] P. Dorman,et al. Homoplasmy, heteroplasmy, and mitochondrial dystonia , 2007, Neurology.
[165] Yongge Zhao,et al. Optineurin Negatively Regulates TNFα- Induced NF-κB Activation by Competing with NEMO for Ubiquitinated RIP , 2007, Current Biology.
[166] A. Grzybowski. Tobacco amblyopia: does it really exist? , 2007, Eye.
[167] A. Solano,et al. Molecular Genetics of a Patient with Mohr–Tranebjaerg Syndrome due to a New Mutation in the DDP1 Gene , 2007, NeuroMolecular Medicine.
[168] Patrick F Chinnery,et al. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. , 2007, American journal of human genetics.
[169] S. Ballinger,et al. The role of tobacco smoke induced mitochondrial damage in vascular dysfunction and atherosclerosis. , 2007, Mutation research.
[170] P. Elliott,et al. SIRT1 activation confers neuroprotection in experimental optic neuritis. , 2007, Investigative ophthalmology & visual science.
[171] D. Birchall,et al. PRIMARY SPINAL CORD NEURODEGENERATION IN LEBER HEREDITARY OPTIC NEUROPATHY , 2007, Neurology.
[172] P. Chinnery,et al. Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G. , 2007, American journal of human genetics.
[173] L. Scorrano,et al. A cut short to death: Parl and Opa1 in the regulation of mitochondrial morphology and apoptosis , 2007, Cell Death and Differentiation.
[174] S. Muñoz,et al. Respuesta a la idebenona asociada a multivitaminoterapia en neuropatía óptica hereditaria de Leber , 2007 .
[175] Michael V. Boland,et al. Risk factors and open-angle glaucoma: classification and application. , 2007, Journal of glaucoma.
[176] H. Smeets,et al. A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. , 2007, Archives of neurology.
[177] Jennifer R. Davies,et al. Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function. , 2007, Human molecular genetics.
[178] S. Dimauro,et al. Mitochondrial Diseases: Therapeutic Approaches , 2007, Bioscience reports.
[179] V. Carelli,et al. Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type? , 2007, Bioscience reports.
[180] R Mark Payne,et al. Mitochondrial protein import and human health and disease. , 2007, Biochimica et biophysica acta.
[181] V. Mils,et al. Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis , 2007, Journal of cellular physiology.
[182] H. Waterham,et al. A lethal defect of mitochondrial and peroxisomal fission. , 2007, The New England journal of medicine.
[183] K. Huoponen,et al. Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland , 2007, European Journal of Human Genetics.
[184] David A Mackey,et al. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. , 2007, American journal of ophthalmology.
[185] D. Bonneau,et al. Mitochondrial coupling defect in Charcot–Marie–Tooth type 2A disease , 2007, Annals of neurology.
[186] N. Osborne,et al. Visible light affects mitochondrial function and induces neuronal death in retinal cell cultures , 2007, Vision Research.
[187] V. Radha,et al. A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants. , 2007, Investigative ophthalmology & visual science.
[188] M. Beal,et al. Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders , 2007, Muscle & nerve.
[189] W. Hauswirth,et al. Use of mitochondrial antioxidant defenses for rescue of cells with a Leber hereditary optic neuropathy-causing mutation. , 2007, Archives of ophthalmology.
[190] V. Tiranti,et al. Depletion of mtDNA: syndromes and genes. , 2007, Mitochondrion.
[191] S. Beck,et al. A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. , 2006, Brain : a journal of neurology.
[192] F. Violante,et al. Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy? , 2006, Environmental health perspectives.
[193] B. Barbiroli,et al. Dominant Optic Atrophy (DOA) and Sensorineural Hearing Loss: Clinical, Biochemical, Spectroscopic and Molecular Genetic Study of a Large Italian Pedigree Linked to a New Locus on Chromosome 16 , 2007 .
[194] Yongge Zhao,et al. Optineurin negatively regulates TNFalpha- induced NF-kappaB activation by competing with NEMO for ubiquitinated RIP. , 2007, Current biology : CB.
[195] Sa Tang,et al. The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma. , 2007, American journal of ophthalmology.
[196] J. Wiggs. Genetic etiologies of glaucoma. , 2007, Archives of ophthalmology.
[197] W. Hauswirth,et al. The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse. , 2007, Investigative ophthalmology & visual science.
[198] A. Sadun,et al. Linezolid-induced optic neuropathy: a mitochondrial disorder? , 2006, British Journal of Ophthalmology.
[199] J. Keltner,et al. Leber hereditary optic neuropathy possibly triggered by exposure to tire fire. , 2006, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[200] G. Savini,et al. Leber's hereditary optic neuropathy with childhood onset. , 2006, Investigative ophthalmology & visual science.
[201] P. Lertrit,et al. Mitochondrial DNA Haplogroup Distribution in Pedigrees of Southeast Asian G11778A Leber Hereditary Optic Neuropathy , 2006, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[202] M. Votruba,et al. Focus on molecules: the OPA1 protein. , 2006, Experimental eye research.
[203] Z. Tong,et al. A family with X‐linked optic atrophy linked to the OPA2 locus Xp11.4‐Xp11.2 , 2006, American journal of medical genetics. Part A.
[204] D. Mokranjac,et al. Structure and function of Tim14 and Tim16, the J and J‐like components of the mitochondrial protein import motor , 2006, The EMBO journal.
[205] J. Haines,et al. Distribution of Optineurin Sequence Variations in an Ethnically Diverse Population of Low-tension Glaucoma Patients From the United States , 2006, Journal of glaucoma.
[206] S. Salamat,et al. Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers. , 2006, American journal of human genetics.
[207] D. Mackey,et al. The role of the Met98Lys optineurin variant in inherited optic nerve diseases , 2006, British Journal of Ophthalmology.
[208] S. Sripriya,et al. OPTN gene: profile of patients with glaucoma from India. , 2006, Molecular vision.
[209] R. D'Hooge,et al. Mitochondrial Rhomboid PARL Regulates Cytochrome c Release during Apoptosis via OPA1-Dependent Cristae Remodeling , 2006, Cell.
[210] Sara Cipolat,et al. OPA1 Controls Apoptotic Cristae Remodeling Independently from Mitochondrial Fusion , 2006, Cell.
[211] M. Zeviani,et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. , 2006, Brain : a journal of neurology.
[212] Robert W. Taylor,et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary , 2006 .
[213] Dt Brown,et al. Transmission of mitochondrial DNA disorders: possibilities for the future , 2006, The Lancet.
[214] D. Samuels. Mitochondrial AZT metabolism , 2006, IUBMB life.
[215] M. C. Leske,et al. Evaluation of the association between OPA1 polymorphisms and primary open-angle glaucoma in Barbados families. , 2006, Molecular vision.
[216] G. Diez-Roux,et al. Optineurin Increases Cell Survival and Translocates to the Nucleus in a Rab8-dependent Manner upon an Apoptotic Stimulus* , 2006, Journal of Biological Chemistry.
[217] Robert W. Taylor,et al. Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia , 2006 .
[218] V. Mils,et al. Mitochondrial dynamics and disease, OPA1. , 2006, Biochimica et biophysica acta.
[219] L. Van Haute,et al. Linezolid-induced inhibition of mitochondrial protein synthesis. , 2006, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.
[220] Massimo Zeviani,et al. Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. , 2006, American journal of human genetics.
[221] L. Balcer. Clinical practice. Optic neuritis. , 2006, The New England journal of medicine.
[222] Richard Wormald,et al. Leading causes of certification for blindness and partial sight in England & Wales , 2006, BMC public health.
[223] Laura C. Greaves,et al. Mitochondrial DNA mutations in human disease , 2006, IUBMB life.
[224] Janet C. Rucker,et al. Linezolid-associated toxic optic neuropathy , 2006, Neurology.
[225] H. Quigley,et al. The number of people with glaucoma worldwide in 2010 and 2020 , 2006, British Journal of Ophthalmology.
[226] F. Baas,et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 , 2006, Annals of neurology.
[227] V. Carelli,et al. Colour vision defects in asymptomatic carriers of the Leber’s hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study , 2006, British Journal of Ophthalmology.
[228] L. Sandvik,et al. Depletion of mitochondrial DNA copies/cell in peripheral blood mononuclear cells in HIV‐1‐infected treatment‐naïve patients , 2006, HIV medicine.
[229] Robert W. Taylor,et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. , 2006, Brain : a journal of neurology.
[230] Maastricht. Influence of mutation type on clinical expression of Leber hereditary optic neuropathy , 2006 .
[231] U. Inserm. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness , 2006 .
[232] R. Sergott. Optic Neuropathy Associated With Linezolid Treatment , 2006 .
[233] Robert W. Taylor,et al. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. , 2006, American journal of human genetics.
[234] D. Turnbull,et al. Treatment for mitochondrial disorders. , 2006, The Cochrane database of systematic reviews.
[235] S. Züchner,et al. Mechanisms of Disease: a molecular genetic update on hereditary axonal neuropathies , 2006, Nature Clinical Practice Neurology.
[236] E. Sutter,et al. Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study. , 2006, Transactions of the American Ophthalmological Society.
[237] O. Mimura,et al. Leber's Hereditary Optic Neuropathy Precipitated by Ethambutol , 2006, Japanese Journal of Ophthalmology.
[238] B. Wissinger,et al. Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene , 2006, Human Genetics.
[239] I. D. de Coo,et al. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. , 2005, American journal of human genetics.
[240] N. Newman,et al. The role of the ND5 gene in LHON: Characterization of a new, heteroplasmic LHON mutation , 2005, Annals of neurology.
[241] G. Lenaers,et al. Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network. , 2005, Investigative ophthalmology & visual science.
[242] M. T. Bhatti,et al. Prophylaxis for second eye involvement in leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine purite. , 2005, American journal of ophthalmology.
[243] Michael G Anderson,et al. Complex genetics of glaucoma susceptibility. , 2005, Annual review of genomics and human genetics.
[244] F. Bernier,et al. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition , 2005, Journal of Medical Genetics.
[245] L. Osipova,et al. A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family. , 2005, Biochemical and biophysical research communications.
[246] E. Sankila,et al. Dominant optic atrophy: correlation between clinical and molecular genetic studies. , 2005, Acta ophthalmologica Scandinavica.
[247] M. Wakakura,et al. Linezolid-induced optic neuropathy. , 2005, American journal of ophthalmology.
[248] A. Arnold,et al. Evolving management of optic neuritis and multiple sclerosis. , 2005, American journal of ophthalmology.
[249] M. Palacín,et al. The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system. , 2005, Human molecular genetics.
[250] S. Bhattacharya,et al. Lack of Association of IVS8+4 C/T and IVS8+32 T/C Polymorphisms in the OPA1 Gene With Normal Tension Glaucoma in Patients From Singapore, India and Japan , 2005 .
[251] P. Amati‐Bonneau,et al. eOPA1: An online database for OPA1 mutations , 2005, Human mutation.
[252] Robert W. Taylor,et al. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation , 2005, European Journal of Human Genetics.
[253] A. Schapira,et al. Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids. , 2005, Archives of neurology.
[254] C. Wolf,et al. Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients. , 2005, Molecular vision.
[255] T. Rouault,et al. Iron–sulphur cluster biogenesis and mitochondrial iron homeostasis , 2005, Nature Reviews Molecular Cell Biology.
[256] R. Foroozan,et al. Optic neuropathy associated with linezolid treatment. , 2005, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[257] Elena Bisetto,et al. Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy , 2005, The FEBS journal.
[258] E. Boekema,et al. Structure of a mitochondrial supercomplex formed by respiratory-chain complexes I and III. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[259] D. Zee,et al. The neuro-ophthalmology of multiple sclerosis , 2005, The Lancet Neurology.
[260] R. T. Hart,et al. The optic nerve head as a biomechanical structure: a new paradigm for understanding the role of IOP-related stress and strain in the pathophysiology of glaucomatous optic nerve head damage , 2005, Progress in Retinal and Eye Research.
[261] A. Munnich,et al. A third locus for dominant optic atrophy on chromosome 22q , 2005, Journal of Medical Genetics.
[262] H. Budka,et al. Neuropathology of white matter disease in Leber's hereditary optic neuropathy. , 2004, Brain : a journal of neurology.
[263] A. Schaefer,et al. Ocular motility findings in chronic progressive external ophthalmoplegia , 2003, Eye.
[264] S. Kemp,et al. No evidence for ‘skewed’ inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers , 1996, Human Genetics.
[265] K. Huoponen,et al. The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy , 1993, Human Genetics.
[266] G. Savini,et al. Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy. , 2005, Ophthalmology.
[267] G. Savini,et al. Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations. , 2005, Ophthalmology.
[268] S. Bette,et al. OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain , 2005, Acta Neuropathologica.
[269] M. Huynen,et al. Shaping the mitochondrial proteome. , 2004, Biochimica et biophysica acta.
[270] Dong Myung Kim,et al. Investigation of the Association between OPA1 Polymorphisms and Normal-Tension Glaucoma in Korea , 2004, Journal of glaucoma.
[271] B. Barbiroli,et al. Deficit of in vivo mitochondrial ATP production in OPA1‐related dominant optic atrophy , 2004 .
[272] B. Barbiroli,et al. The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy , 2004 .
[273] Yu Zhao,et al. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. , 2004, American journal of ophthalmology.
[274] J. Morgan,et al. Circulation and axonal transport in the optic nerve , 2004, Eye.
[275] H. Kalbacher,et al. OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina. , 2004, Investigative ophthalmology & visual science.
[276] A. Schapira,et al. Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines. , 2004, Brain : a journal of neurology.
[277] Li Guo,et al. Real-time imaging of single nerve cell apoptosis in retinal neurodegeneration. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[278] P. Calvas,et al. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract , 2004, Journal of Medical Genetics.
[279] W. Hauswirth,et al. SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I , 2004, Annals of neurology.
[280] S. Mallal,et al. Complications Associated with Nrti Therapy: Update on Clinical Features and Possible Pathogenic Mechanisms , 2004, Antiviral therapy.
[281] A. Martinuzzi,et al. Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration. , 2004, Biochimica et biophysica acta.
[282] B. Lam,et al. Erythromycin as a potential precipitating agent in the onset of Leber's hereditary optic neuropathy. , 2004, Mitochondrion.
[283] Yau-Huei Wei,et al. Increased 8-hydroxy-2'-deoxyguanosine in leukocyte DNA in Leber's hereditary optic neuropathy. , 2004, Investigative ophthalmology & visual science.
[284] S. Bhattacharya,et al. Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. , 2004, Investigative ophthalmology & visual science.
[285] C. van Broeckhoven,et al. Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. , 2004, Nucleic acids research.
[286] M. Pericak-Vance,et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A , 2004, Nature Genetics.
[287] N. Wood,et al. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. , 2004, Brain : a journal of neurology.
[288] Robert W. Taylor,et al. The diagnosis of mitochondrial muscle disease , 2004, Neuromuscular Disorders.
[289] V. Carelli,et al. Visual Electrophysiologic Findings in Patients From an Extensive Brazilian Family with Leber's Hereditary Optic Neuropathy Visual electrophysiology in LHON , 2004, Documenta Ophthalmologica.
[290] A. Munnich,et al. Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial , 2004, Neurology.
[291] C. Tifft,et al. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation , 2004, American journal of medical genetics. Part A.
[292] M. Tarnopolsky,et al. Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation , 2004, American journal of medical genetics. Part A.
[293] V. Carelli,et al. Mitochondrial dysfunction as a cause of optic neuropathies , 2004, Progress in Retinal and Eye Research.
[294] D. Turnbull,et al. The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head , 2004, British Journal of Ophthalmology.
[295] Sequence analysis of Hungarian LHON patients not carrying the common primary mutations , 2002, Journal of Inherited Metabolic Disease.
[296] N. Newman,et al. Hereditary optic neuropathies. , 1995, Seminars in ophthalmology.
[297] A. Harding,et al. Sequence of the human homologue of a mitochondrially encoded murine transplantation antigen in patients with multiple sclerosis , 1995, Journal of Neurology.
[298] H. van Jaarsveld,et al. Exposure of rats to low concentration of cigarette smoke increases myocardial sensitivity to ischaemia/reperfusion , 1992, Basic Research in Cardiology.
[299] J. Smeitink,et al. Function and dysfunction of the oxidative phosphorylation system , 2004 .
[300] J. Zajicek,et al. The epidemiology of multiple sclerosis in Devon: a comparison of the new and old classification criteria. , 2004, Journal of neurology, neurosurgery, and psychiatry.
[301] A. Martinuzzi,et al. Apoptotic Cell Death of Cybrid Cells Bearing Leber's Hereditary Optic Neuropathy Mutations Is Caspase Independent , 2003, Annals of the New York Academy of Sciences.
[302] L. Pasquier,et al. The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. , 2003, American journal of ophthalmology.
[303] A. Munnich,et al. A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q , 2003, European Journal of Human Genetics.
[304] A. Melamud,et al. Ocular ethambutol toxicity. , 2003, Mayo Clinic proceedings.
[305] N. Bresolin,et al. Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain , 2003, Neurology.
[306] C. Inglehearn,et al. Polymorphisms in OPA1 are associated with normal tension glaucoma. , 2003, Molecular vision.
[307] R. Vale,et al. Mitochondrial positioning in fission yeast is driven by association with dynamic microtubules and mitotic spindle poles , 2003, Proceedings of the National Academy of Sciences of the United States of America.
[308] M. Hennerici,et al. Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene. , 2003, Brain : a journal of neurology.
[309] V. Carelli,et al. Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. , 2003, American journal of ophthalmology.
[310] D. Turnbull,et al. Frequency of rare mitochondrial DNA mutations in patients with suspected Leber’s hereditary optic neuropathy , 2003, Journal of medical genetics.
[311] S. Dimauro,et al. Mitochondrial respiratory-chain diseases. , 2003, The New England journal of medicine.
[312] M. Hirano,et al. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. , 2003, The Journal of clinical investigation.
[313] F. Rolling,et al. Sustained tetracycline‐regulated transgene expression in vivo in rat retinal ganglion cells using a single type 2 adeno‐associated viral vector , 2003, The journal of gene medicine.
[314] A. Arnold. Pathogenesis of nonarteritic anterior ischemic optic neuropathy. , 2003, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[315] D. Mackey,et al. Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. , 2003, American journal of human genetics.
[316] S. di Donato,et al. Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial , 2003, Neurology.
[317] E. Shink,et al. Lack of Association between Normal-tension Glaucoma and Intron 8 Polymorphisms in the Gene Causing Autosomal Dominant Optic Atrophy, OPA1, in Japan , 2003 .
[318] J. B. Tok,et al. Aminoglycoside and its derivatives as ligands to target the ribosome. , 2003, Current topics in medicinal chemistry.
[319] R. Lai,et al. Role of alpha-2 agonists in neuroprotection. , 2003, Survey of ophthalmology.
[320] A. Schapira,et al. Leber's Hereditary Optic Neuropathy (LHON) Pathogenic Mutations Induce Mitochondrial-dependent Apoptotic Death in Transmitochondrial Cells Incubated with Galactose Medium* , 2003, The Journal of Biological Chemistry.
[321] D. Turnbull,et al. The epidemiology of Leber hereditary optic neuropathy in the North East of England. , 2003, American journal of human genetics.
[322] W. Hauswirth,et al. Suppression of complex I gene expression induces optic neuropathy , 2003, Annals of neurology.
[323] S. Shimizu,et al. A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy. , 2003, American journal of ophthalmology.
[324] E. Reid,et al. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias , 2003, Journal of medical genetics.
[325] S. Bhattacharya,et al. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy , 2003, The British journal of ophthalmology.
[326] D. Mackey,et al. Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus , 2003, Eye.
[327] S. Park,et al. Leber's hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy , 2003, Journal of Neurology.
[328] K. Dingemans,et al. Cardiomyopathy with mitochondrial damage associated with nucleoside reverse-transcriptase inhibitors. , 2002, The New England journal of medicine.
[329] R. Sergott,et al. Is normal tension glaucoma actually an unrecognized hereditary optic neuropathy? New evidence from genetic analysis. , 2002, Current opinion in ophthalmology.
[330] B. Katz. Disc excavation in dominant optic atrophy. , 2002, Ophthalmology.
[331] D. Besch,et al. Leber’s hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery , 2002, Graefe’s Archive for Clinical and Experimental Ophthalmology.
[332] D. Mackey,et al. Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease , 2002, Journal of medical genetics.
[333] Robert W. Taylor,et al. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. , 2002, Nucleic acids research.
[334] D. Besch,et al. Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations. , 2002, Biochemical and biophysical research communications.
[335] F. Gonzalez-Lima,et al. Mouse model of optic neuropathy caused by mitochondrial complex I dysfunction , 2002, Neuroscience Letters.
[336] A. Torroni,et al. Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy , 2002, Annals of neurology.
[337] Michael E Shy,et al. Hereditary motor and sensory neuropathies: a biological perspective , 2002, The Lancet Neurology.
[338] Margaret A. Johnson,et al. The distribution of mitochondrial activity in relation to optic nerve structure. , 2002, Archives of ophthalmology.
[339] B. Barbiroli,et al. Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy , 2002, Journal of neurology, neurosurgery, and psychiatry.
[340] A. Munnich,et al. Molecular insights into Friedreich's ataxia and antioxidant-based therapies. , 2002, Trends in molecular medicine.
[341] S. Park,et al. Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis , 2002, Annals of neurology.
[342] D. Turnbull,et al. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. , 2002, American journal of human genetics.
[343] K. Khrapko,et al. Clonally expanded mtDNA point mutations are abundant in individual cells of human tissues , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[344] P. Harrigan,et al. Changes in mitochondrial DNA as a marker of nucleoside toxicity in HIV-infected patients. , 2002, The New England journal of medicine.
[345] E. Schon,et al. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus , 2002, Nature Genetics.
[346] M. Seldin,et al. Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. , 2002, Human molecular genetics.
[347] R. Ritch,et al. Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin , 2002, Science.
[348] D. Besch,et al. Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy , 2002, Ophthalmic genetics.
[349] P. Chinnery. Modulating heteroplasmy. , 2002, Trends in genetics : TIG.
[350] Yau-Huei Wei,et al. Leber's hereditary optic neuropathy--the spectrum of mitochondrial DNA mutations in Chinese patients. , 2002, Japanese journal of ophthalmology.
[351] E. Starikovskaya,et al. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J , 2002, Human Genetics.
[352] W. Gahl,et al. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. , 2001, American journal of human genetics.
[353] M. Krawczak,et al. A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene , 2001, Human Genetics.
[354] Masasuke Yoshida,et al. ATP synthase — a marvellous rotary engine of the cell , 2001, Nature Reviews Molecular Cell Biology.
[355] D. Epstein,et al. Disc excavation in dominant optic atrophy: differentiation from normal tension glaucoma. , 2001, Ophthalmology.
[356] M. Marinis. Optic neuropathy after treatment with anti-tuberculous drugs in a subject with Leber's hereditary optic neuropathy mutation , 2001, Journal of Neurology.
[357] G. Comi,et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria , 2001, Nature Genetics.
[358] C. Broeckhoven,et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions , 2001, Nature Genetics.
[359] N. Newman,et al. Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families , 2001, Human Genetics.
[360] D. Mackey,et al. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. , 2001, Human molecular genetics.
[361] E. Zrenner,et al. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. , 2001, Human molecular genetics.
[362] H. Ujike,et al. A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene. , 2001, Archives of neurology.
[363] M. Rovaris,et al. Magnetic resonance imaging, magnetisation transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber's hereditary optic neuropathy , 2001, Journal of neurology, neurosurgery, and psychiatry.
[364] K. Yarasheski,et al. Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication , 2001, Proceedings of the National Academy of Sciences of the United States of America.
[365] R. Cann. Genetic Clues to Dispersal in Human Populations: Retracing the Past from the Present , 2001, Science.
[366] P. Klivényi,et al. α-Tocopherol/lipid ratio in blood is decreased in patients with Leber's hereditary optic neuropathy and asymptomatic carriers of the 11778 mtDNA mutation , 2001, Journal of neurology, neurosurgery, and psychiatry.
[367] M. Votruba,et al. The pupil in dominant optic atrophy. , 2001, Investigative ophthalmology & visual science.
[368] D. Turnbull,et al. Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? , 2001, American journal of medical genetics.
[369] E. Sapey,et al. Evidence of active demyelination in a man with Leber's hereditary optic neuropathy mtDNA 14484 genotype , 2001 .
[370] Yin Chang,et al. The spatial distribution of macular pigment in humans , 2001, Current eye research.
[371] K. Skullerud,et al. Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene , 2001, Ophthalmic genetics.
[372] R. Bone,et al. Lutein, zeaxanthin, and the macular pigment. , 2001, Archives of biochemistry and biophysics.
[373] D. Turnbull,et al. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. , 2001, Brain : a journal of neurology.
[374] S. Mansour,et al. Leber hereditary optic neuropathy associated with antiretroviral therapy for human immunodeficiency virus infection. , 2001, American journal of ophthalmology.
[375] D. Wallace,et al. Functional Analysis of Lymphoblast and Cybrid Mitochondria Containing the 3460, 11778, or 14484 Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation* , 2000, The Journal of Biological Chemistry.
[376] T. Beaty,et al. A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. , 2000, American journal of ophthalmology.
[377] D. Turnbull,et al. The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? , 2000, Trends in genetics : TIG.
[378] J. Lanciego,et al. Current concepts in neuroanatomical tracing , 2000, Progress in Neurobiology.
[379] C. Westfall,et al. Chronic exposure keratopathy complicating surgical correction of ptosis in patients with chronic progressive external ophthalmoplegia. , 2000, American journal of ophthalmology.
[380] B. Robinson,et al. Mitochondria, oxygen free radicals, disease and ageing. , 2000, Trends in biochemical sciences.
[381] P. Venegas-Francke,et al. [Bilateral optic neuritis caused by chloramphenicol]. , 2000, Revista de neurologia.
[382] J. Grosgeorge,et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy , 2000, Nature Genetics.
[383] S. Bhattacharya,et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 , 2000, Nature Genetics.
[384] M. Wakakura,et al. Do Idebenone and Vitamin Therapy Shorten the Time to Achieve Visual Recovery in Leber Hereditary Optic Neuropathy? , 2000, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[385] B. Barbiroli,et al. 'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation. , 2000, Brain : a journal of neurology.
[386] L. Peltonen,et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. , 2000, Science.
[387] T G Frey,et al. The internal structure of mitochondria. , 2000, Trends in biochemical sciences.
[388] P. Donnelly,et al. The mutation rate in the human mtDNA control region. , 2000, American journal of human genetics.
[389] T. Friedmann,et al. Principles for Human Gene Therapy Studies , 2000, Science.
[390] T. Friedmann. Medical ethics. Principles for human gene therapy studies. , 2000, Science.
[391] P. Win,et al. Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve. , 2000, Transactions of the American Ophthalmological Society.
[392] F. Meire,et al. Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis , 2000, Journal of Neurology.
[393] A. Gerinec,et al. [Leber's hereditary optic neuropathy]. , 1999, Casopis lekaru ceskych.
[394] D. Turnbull,et al. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA , 1999, Nature Genetics.
[395] D. Turnbull,et al. Nonrandom tissue distribution of mutant mtDNA. , 1999, American journal of medical genetics.
[396] E. Zrenner,et al. Leber’s hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene , 1999, Graefe's Archive for Clinical and Experimental Ophthalmology.
[397] A. Munnich,et al. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study , 1999, The Lancet.
[398] M. Vagefi,et al. Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. , 1999, Archives of ophthalmology.
[399] D. Johns,et al. Smoking as an aetiological factor in a pedigree with Leber’s hereditary optic neuropathy , 1999, British Journal of Ophthalmology.
[400] J. Cooper,et al. Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy , 1999, Journal of the Neurological Sciences.
[401] Margaret A. Johnson,et al. Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina , 1999, The British journal of ophthalmology.
[402] I. Nishino,et al. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. , 1999, Science.
[403] B. Lang,et al. Mitochondrial evolution. , 1999, Science.
[404] L. Levin,et al. Ethambutol is toxic to retinal ganglion cells via an excitotoxic pathway. , 1999, Investigative ophthalmology & visual science.
[405] B F Lang,et al. Mitochondrial evolution. , 1999, Science.
[406] D. Mackey,et al. Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy. , 1998, American journal of human genetics.
[407] Douglas R. Anderson,et al. Comparison of glaucomatous progression between untreated patients with normal-tension glaucoma and patients with therapeutically reduced intraocular pressures. Collaborative Normal-Tension Glaucoma Study Group. , 1998, American journal of ophthalmology.
[408] M. Votruba,et al. Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. , 1998, Journal of medical genetics.
[409] Douglas R. Anderson,et al. The effectiveness of intraocular pressure reduction in the treatment of normal-tension glaucoma. Collaborative Normal-Tension Glaucoma Study Group. , 1998, American journal of ophthalmology.
[410] S. Tabrizi,et al. The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy , 1998, Annals of neurology.
[411] Sergio Cocozza,et al. Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease , 1998, Cell.
[412] S. Lessell. Nutritional Amblyopia , 1998, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[413] A. Federico,et al. A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778 , 1998, Journal of Neurology.
[414] N. Shimizu,et al. Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy. , 1998, Current eye research.
[415] W. Martin,et al. The hydrogen hypothesis for the first eukaryote , 1998, Nature.
[416] F. Fitzke,et al. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. , 1998, Archives of ophthalmology.
[417] M. Stoneking,et al. Mitochondrial mutation rate revisited: hot spots and polymorphism , 1998, Nature Genetics.
[418] D. Turnbull,et al. Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. , 1997, Trends in genetics : TIG.
[419] F. Riemslag,et al. A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. , 1997, American journal of human genetics.
[420] N. Newman,et al. De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy , 1997, Neurology.
[421] G. Radda,et al. In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by 31P magnetic resonance spectroscopy , 1997, Annals of neurology.
[422] A. Munnich,et al. Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia , 1997, Nature Genetics.
[423] M. Araie,et al. Intraocular pressure and central visual field of normal tension glaucoma , 1997, The British journal of ophthalmology.
[424] S J Young,et al. Electron tomography of neuronal mitochondria: three-dimensional structure and organization of cristae and membrane contacts. , 1997, Journal of structural biology.
[425] P. Cortelli,et al. Leber's hereditary optic neuropathy , 1997, Neurology.
[426] E. Zrenner,et al. Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy. , 1997, Biochemical and biophysical research communications.
[427] P. Zaniol,et al. Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study , 1997, Journal of the Neurological Sciences.
[428] Mark R. Wilson,et al. A high observed substitution rate in the human mitochondrial DNA control region , 1997, Nature Genetics.
[429] R. Tomsak,et al. Nutritional deficiency amblyopia or Leber's hereditary optic neuropathy? , 1997 .
[430] H. Lubs,et al. Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome. , 2009, Acta ophthalmologica Scandinavica.
[431] T. Rosenberg,et al. Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. , 2009, Acta ophthalmologica Scandinavica.
[432] Y. Mashima,et al. High incidence of pre‐excitation syndrome in Japanese families with Leber's hereditary optic neuropathy , 1996, Clinical genetics.
[433] A Dürr,et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. , 1996, The New England journal of medicine.
[434] A. Harding,et al. A case-control study of Leber's hereditary optic neuropathy. , 1996, Brain : a journal of neurology.
[435] D. Mackey,et al. How rapidly does the human mitochondrial genome evolve? , 1996, American journal of human genetics.
[436] D. Mackey,et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. , 1996, American journal of human genetics.
[437] M. Finel,et al. Catalytic activity of complex I in cell lines that possess replacement mutations in the ND genes in Leber's hereditary optic neuropathy. , 1996, European journal of biochemistry.
[438] G. Hofhaus,et al. Respiration and Growth Defects in Transmitochondrial Cell Lines Carrying the 11778 Mutation Associated with Leber's Hereditary Optic Neuropathy* , 1996, The Journal of Biological Chemistry.
[439] G. Bruyn,et al. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. , 1996, American journal of human genetics.
[440] P. Patel,et al. Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion , 1996, Science.
[441] K. Huoponen,et al. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. , 1996, Ophthalmology.
[442] E. Hoffman,et al. X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant. , 1996, American journal of medical genetics.
[443] M. Knaap,et al. Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings , 1996, Journal of the Neurological Sciences.
[444] J. Cooper,et al. The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity. , 1995, American journal of human genetics.
[445] Cuba Neuropathy Field Investigation Team. Epidemic optic neuropathy in Cuba--clinical characterization and risk factors. , 1995, The New England journal of medicine.
[446] E. Bleeker-Wagemakers,et al. The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain. , 1995, Biochemical and biophysical research communications.
[447] J. Martín,et al. Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations. , 1995, Ophthalmic genetics.
[448] K. Huoponen,et al. Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. , 1995, Journal of neurology, neurosurgery, and psychiatry.
[449] A. Harding,et al. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. , 1995, American journal of human genetics.
[450] P. Zaniol,et al. Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation , 1995, Neurology.
[451] R. Carrozzo,et al. MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells. , 1995, Biochemical and biophysical research communications.
[452] M. Wikström,et al. A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy. , 1995, American journal of human genetics.
[453] G. Plazzi,et al. Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy. , 1995, Journal of neurology, neurosurgery, and psychiatry.
[454] M. Wakakura,et al. Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy. , 1995, The British journal of ophthalmology.
[455] R. Stevenson,et al. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. , 1995, Journal of medical genetics.
[456] A. Harding,et al. Mitochondrial DNA diseases: Genotype and phenotype in leber's hereditary optic neuropathy , 1995, Muscle & nerve. Supplement.
[457] A. Torroni,et al. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations , 1995, Human mutation.
[458] P. Cortelli,et al. Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy , 1994, FEBS letters.
[459] K. Huoponen,et al. Pre-excitation syndrome in Leber's hereditary optic neuropathy , 1994, The Lancet.
[460] N. Newman,et al. Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Cuba Neuropathy Field Investigation Team. , 1994, American journal of ophthalmology.
[461] A. Harding,et al. Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis , 1994, Annals of neurology.
[462] D. Wallace,et al. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. , 1994, Proceedings of the National Academy of Sciences of the United States of America.
[463] A. Torroni,et al. Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance , 1994, Journal of bioenergetics and biomembranes.
[464] A. Sadun,et al. Epidemic optic neuropathy in Cuba. Eye findings. , 1994, Archives of ophthalmology.
[465] J. Cooper,et al. Platelet mitochondrial function in Leber's hereditary optic neuropathy , 1994, Journal of the Neurological Sciences.
[466] R. Beck,et al. The effect of corticosteroids for acute optic neuritis on the subsequent development of multiple sclerosis. The Optic Neuritis Study Group. , 1993, The New England journal of medicine.
[467] N. Miller,et al. Identical twins who are discordant for Leber's hereditary optic neuropathy. , 1993, Archives of ophthalmology.
[468] N. Miller,et al. Heteroplasmy in Leber's hereditary optic neuropathy. , 1993, Archives of ophthalmology.
[469] N. Miller,et al. Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. , 1993, Archives of ophthalmology.
[470] D. Johns,et al. Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. , 1993, Biochemical and biophysical research communications.
[471] N. Howell,et al. When does bilateral optic atrophy become Leber hereditary optic neuropathy? , 1993, American journal of human genetics.
[472] D. Eliott,et al. Visual prognosis in autosomal dominant optic atrophy (Kjer type). , 1993, American journal of ophthalmology.
[473] N. Miller,et al. Leber's hereditary optic neu-ropathy. Clinical manifestations of the 14484 mutation , 1993 .
[474] J. Rizzo,et al. Tobacco amblyopia. , 1993, American journal of ophthalmology.
[475] D. Mackey,et al. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. , 1992, American journal of human genetics.
[476] M. Beal,et al. Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age , 1992, Nature Genetics.
[477] D R Johns,et al. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. , 1992, Biochemical and biophysical research communications.
[478] J. Rotter,et al. Leber hereditary optic neuropathy: estimation of number of embryonic precursor cells and disease threshold in heterozygous affected females at the X‐linked locus , 1992, Clinical genetics.
[479] W. Mcdonald,et al. Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. , 1992, Brain : a journal of neurology.
[480] D. Mackey,et al. Leber hereditary optic neuropathy in Australia. , 1992, Australian and New Zealand journal of ophthalmology.
[481] D. Mackey,et al. Cardiac arrhythmia and Leber's hereditary optic neuropathy , 1992, The Lancet.
[482] N. Newman,et al. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. , 1992, Journal of clinical neuro-ophthalmology.
[483] M. Wikström,et al. Electron transfer properties of NADH: Ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON) , 1991, FEBS letters.
[484] E. Holme,et al. Leber's hereditary optic neuropathy and complex I deficiency in muscle , 1991, Annals of neurology.
[485] D. Turnbull,et al. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. , 1991, American journal of human genetics.
[486] J. Rotter,et al. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[487] K. Huoponen,et al. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. , 1991, American journal of human genetics.
[488] N. Howell,et al. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. , 1991, American journal of human genetics.
[489] H. Krastel,et al. Electrophysiology and colour perimetry in dominant infantile optic atrophy. , 1991, The British journal of ophthalmology.
[490] E. Shoubridge,et al. Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease , 1990, Cell.
[491] H. Yonekawa,et al. Maternally transmitted histocompatibility antigen of mice: A hydrophobic peptide of a mitochondrially encoded protein , 1990, Cell.
[492] Yunis Aa. Chloramphenicol toxicity: 25 years of research. , 1989 .
[493] J. Parks,et al. A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy. , 1989, The New England journal of medicine.
[494] N. Gadoth,et al. A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia , 1989, Neurology.
[495] A. Yunis. Chloramphenicol toxicity: 25 years of research. , 1989, The American journal of medicine.
[496] D. Wallace,et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. , 1988, Science.
[497] J. Kucharská,et al. The effect of smoking on myocardial metabolism. , 1987, Czechoslovak medicine.
[498] R. Goldberg,et al. Management of Ptosis in Chronic Progressive External Ophthalmoplegia , 1987, Ophthalmic plastic and reconstructive surgery.
[499] F. Meire,et al. Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). , 1985, Ophthalmic paediatrics and genetics.
[500] A. Harding. CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS , 1983, The Lancet.
[501] N. Avadhani,et al. The complexity of mitochondrial translation products in mammalian cells. , 1981, Biochemical and biophysical research communications.
[502] F. Sanger,et al. Sequence and organization of the human mitochondrial genome , 1981, Nature.
[503] M. Lazar,et al. Chloramphenicol optic neuropathy. , 1980, Archives of ophthalmology.
[504] J. Herschler,et al. Nonglaucomatous excavation of the optic disc. , 1980, Archives of ophthalmology.
[505] C. Hoyt,et al. Autosomal dominant optic atrophy. A spectrum of disability. , 1980, Ophthalmology.
[506] L. Kline,et al. Dominant optic atrophy. The clinical profile. , 1979, Archives of ophthalmology.
[507] L. Dorfman,et al. The early phase in Leber hereditary optic atrophy. , 1977, Archives of ophthalmology.
[508] F. N. Ghadially,et al. Chloramphenicol-induced mitochondrial and ultrastructural changes in hemopoietic cells. , 1976, Archives of pathology & laboratory medicine.
[509] D. Cogan,et al. Optic neuropathy, chloramphenicol, and infantile genetic agranulocytosis. , 1973, Investigative ophthalmology.
[510] L Margulis,et al. Symbiosis and evolution. , 1971, Scientific American.
[511] A. Yunis,et al. Chloramphenicol-related changes in mitochondrial ultrastructure. , 1970, Journal of cell science.
[512] A. Yunis,et al. Reversible bone marrow suppression from chloramphenicol. A consequence of mitochondrial injury. , 1970, Archives of internal medicine.
[513] D. Y. Thomas,et al. Inhibition of mitochondrial synthesis in yeast by erythromycin: cytoplasmic and nuclear factors controlling resistance. , 1968, Genetical research.
[514] Pask Ea,et al. HOMOSEXUALITY AS A CRIME. , 1965 .
[515] P. Kjer. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. , 1959, Acta ophthalmologica. Supplementum.
[516] P. Kjer. Hereditary infantile optic atrophy with dominant transmission. , 1957, Acta genetica et statistica medica.
[517] P. Kjer. Hereditary infantile optic atrophy with dominant transmission; preliminary report. , 1956, Danish medical bulletin.