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1. Full Text Gene therapy for leber hereditary optic neuropathy initial results
by Feuer, William J and Schiffman, Joyce C and Davis, Janet L and Porciatti, Vittorio and Gonzalez, Phillip and Koilkonda, Rajeshwari D and Yuan, Huijun and Lalwani, Anil and Lam, Byron L and Guy, John
Ophthalmology, ISSN 0161-6420, 03/2016, Volume 123, Issue 3, pp. 558 - 570
Purpose Leber hereditary optic neuropathy (LHON) is a disorder characterized by severe and rapidly progressive visual loss when caused by a mutation in the... 
CELLS | RESCUE | CLINICAL-TRIAL | ADENOASSOCIATED VIRUS | NUCLEUS | MITOCHONDRIAL-DNA HETEROPLASMY | ALLOTOPIC EXPRESSION | OPHTHALMOLOGY | DYSFUNCTION | DEFICIENCY | VECTOR | Electroretinography | Dependovirus - genetics | Genetic Therapy | Prospective Studies | Intravitreal Injections | Tomography, Optical Coherence | Humans | Middle Aged | Male | NADH Dehydrogenase - genetics | Optic Atrophy, Hereditary, Leber - genetics | Optic Atrophy, Hereditary, Leber - therapy | DNA, Mitochondrial - genetics | Visual Fields | Polymerase Chain Reaction | Adult | Female | Polymorphism, Single Nucleotide | Visual Field Tests | Genetic Vectors | Optic Atrophy, Hereditary, Leber - physiopathology | Visual Acuity - physiology | Genetic vectors | Gene therapy | Genes
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2. Full Text Geneenvironment interactions in Leber hereditary optic neuropathy
by Kirkman, Matthew Anthony and Yu-Wai-Man, Patrick and Korsten, Alex and Leonhardt, Miriam and Dimitriadis, Konstantin and De Coo, Ireneaus F and Klopstock, Thomas and Chinnery, Patrick Francis
Brain, ISSN 0006-8950, 2009, Volume 132, Issue 9, pp. 2317 - 2326
Leber hereditary optic neuropathy (LHON) is a genetic disorder primarily due to mutations of mitochondrial DNA (mtDNA). Environmental factors are thought to... 
Epigenetics | Alcohol | Leber hereditary optic neuropathy | Tobacco | Mitochondrial DNA | alcohol | MITOCHONDRIAL-DNA MUTATIONS | DISCORDANT | mitochondrial DNA | CLINICAL EXPRESSION | SMOKING | LOCUS | NEUROSCIENCES | epigenetics | CLINICAL NEUROLOGY | PEDIGREES | DISEASE | tobacco | IDENTICAL-TWINS | EXPOSURE
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3. Full Text Idebenone Treatment In Leber's Hereditary Optic Neuropathy
by Carelli, Valerio and La Morgia, Chiara and Valentino, Maria Lucia and Rizzo, Giovanni and Carbonelli, Michele and De Negri, Anna Maria and Sadun, Federico and Carta, Arturo and Guerriero, Silvana and Simonelli, Francesca and Sadun, Alfredo Arrigo and Aggarwal, Divya and Liguori, Rocco and Avoni, Patrizia and Baruzzi, Agostino and Zeviani, Massimo and Montagna, Pasquale and Barboni, Piero
Brain, ISSN 0006-8950, 9/2011, Volume 134, Issue 9, pp. e188 - e188
PATIENT | NEUROSCIENCES | CLINICAL NEUROLOGY | MUTATION | Optic Atrophy, Hereditary, Leber - drug therapy | Antioxidants - therapeutic use | Humans | Ubiquinone - analogs & derivatives | Placebos | Ubiquinone - therapeutic use | Female | Male
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4. Full Text Leber hereditary optic neuropathy: Current perspectives
by Meyerson, Cherise and Van Stavern, Greg and McClelland, Collin
Clinical Ophthalmology, ISSN 1177-5467, 06/2015, Volume 9, pp. 1165 - 1176
Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results... 
Leber hereditary optic neuropathy | Mitochondria | Mitochondrial DNA | Neuro-ophthalmology | Care and treatment | Optic atrophy | Gene mutations | Development and progression | Genetic aspects | Gene therapy | Identification and classification | Health aspects | Methods | Optic nerve | Stem cells | Tomography | Optics | Family medical history | Mutation | Ophthalmology | Metabolism | Patients | Epidemiology
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5. Full Text Mouse mtDNA mutant model of Leber hereditary optic neuropathy
by Chun Shi Lin and Mark S. Sharpley and Weiwei Fan and Katrina G. Waymire and Alfredo A. Sadun and Valerio Carelli and Fred N. Ross-Cisneros and Peter Baciu and Eric Sung and Meagan J. McManus and Billy X. Pan and Daniel W. Gil and Grant R. MacGregor and Douglas C. Wallace
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2012, Volume 109, Issue 49, pp. 20065 - 20070
An animal model of Leber hereditary optic neuropathy (LHON) was produced by introducing the human optic atrophy mtDNA ND6 P25L mutation into the mouse. Mice... 
Axons | Mitochondria | Optic atrophy | Optic nerve | Leber hereditary optic atrophy | Cell lines | Mitochondrial DNA | Biochemistry | Synaptosomes | Genetic mutation | Neurodegenerative disease | Ophthalmology | Oxidative phosphorylation | Maternal inheritance | LIFE-SPAN | neurodegenerative disease | MULTIDISCIPLINARY SCIENCES | MITOCHONDRIAL-DNA MUTATION | CELL LINES | maternal inheritance | oxidative phosphorylation | GLUTAMATE TRANSPORT | ENCEPHALOPATHY | RESPIRATORY COMPLEX I | ophthalmology | MICE | CYBRIDS | DYSFUNCTION | SUPEROXIDE-DISMUTASE | Electroretinography | Optic Nerve - pathology | Optic Atrophy, Hereditary, Leber - complications | Reactive Oxygen Species - metabolism | Age Factors | Humans | Oxidative Stress - physiology | Immunoblotting | NADH Dehydrogenase - genetics | Optic Atrophy, Hereditary, Leber - genetics | Synaptosomes - metabolism | Mutation, Missense - genetics | Animals | DNA, Mitochondrial - genetics | Adenosine Triphosphate - metabolism | Demyelinating Diseases - etiology | Mice | Demyelinating Diseases - pathology | Optic Atrophy, Hereditary, Leber - physiopathology | Retina - pathology | Disease Models, Animal | Development and progression | Genetic aspects | Gene mutations | Health aspects | Biological Sciences
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6. Full Text A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy
by Klopstock, Thomas and Yu-Wai-Man, Patrick and Dimitriadis, Konstantinos and Rouleau, Jacinthe and Heck, Suzette and Bailie, Maura and Atawan, Alaa and Chattopadhyay, Sandip and Schubert, Marion and Garip, Aylin and Kernt, Marcus and Petraki, Diana and Rummey, Christian and Leinonen, Mika and Metz, Günther and Griffiths, Philip G and Meier, Thomas and Chinnery, Patrick F
Brain, ISSN 0006-8950, 9/2011, Volume 134, Issue 9, pp. 2677 - 2686
Major advances in understanding the pathogenesis of inherited metabolic disease caused by mitochondrial DNA mutations have yet to translate into treatments of... 
mitochondrial encephalomyopathy | optic atrophy | mitochondrial DNA | LHON | optic neuropathy | mitochondrial disease | idebenone | DRIVEN | NEUROSCIENCES | COHERENCE TOMOGRAPHY | CLINICAL NEUROLOGY | MUTATION | PATIENT | CYBRIDS | EPIDEMIOLOGY | Prospective Studies | Double-Blind Method | Humans | Middle Aged | Ubiquinone - analogs & derivatives | Male | Antioxidants - pharmacology | Ubiquinone - pharmacology | Young Adult | Optic Atrophy, Hereditary, Leber - drug therapy | Antioxidants - therapeutic use | Visual Acuity - drug effects | DNA, Mitochondrial - genetics | Retina - ultrastructure | Adolescent | Contrast Sensitivity - drug effects | Placebos | Ubiquinone - therapeutic use | Adult | Female | Aged | Mutation | Optic Atrophy, Hereditary, Leber - physiopathology
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7. Full Text Treatment strategies for Leber hereditary optic neuropathy
by Jurkute, Neringa and Harvey, Joshua and Yu-Wai-Man, Patrick
Current opinion in neurology, ISSN 1350-7540, 02/2019, Volume 32, Issue 1, pp. 99 - 104
Purpose of review Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) disorder in the population and it carries a... 
STEM-CELLS | LIGHT | gene therapy | NEUROSCIENCES | mitochondrial disease | CLINICAL NEUROLOGY | RETINAL GANGLION-CELLS | COPY NUMBER | Leber hereditary optic neuropathy | retinal ganglion cells | GENE-THERAPY | GENERATION | FUNCTIONAL AXONS | idebenone | Usage | Research | Gene mutations | Gene therapy
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8. Full Text Childhood-onset Leber hereditary optic neuropathy
by Majander, Anna and Bowman, Richard and Poulton, Joanna and Antcliff, Richard J and Reddy, M Ashwin and Michaelides, Michel and Webster, Andrew R and Chinnery, Patrick F and Votruba, Marcela and Moore, Anthony T and Yu-Wai-Man, Patrick
British Journal of Ophthalmology, ISSN 0007-1161, 11/2017, Volume 101, Issue 11, pp. 1505 - 1509
BackgroundThe onset of Leber hereditary optic neuropathy (LHON) is relatively rare in childhood. This study describes the clinical and molecular genetic... 
Genetics | Child health (paediatrics) | Optic Nerve | Vision | Diagnostic tests/Investigation | OPHTHALMOLOGY | PENETRANCE | PEDIGREES | CLINICAL-MANIFESTATIONS | Genetic Predisposition to Disease | Prognosis | Humans | Optic Atrophy, Hereditary, Leber - epidemiology | Child, Preschool | Male | Optic Atrophy, Hereditary, Leber - genetics | Visual Acuity | Disease Progression | Age of Onset | Female | Retrospective Studies | Child | United Kingdom - epidemiology | Literature reviews | Mitochondrial DNA | Genetic testing | Mutation | Ophthalmology | Patients | Deoxyribonucleic acid--DNA | Age
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9. Full Text Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy
by Giordano, Carla and Montopoli, Monica and Perli, Elena and Orlandi, Maurizia and Fantin, Marianna and Ross-Cisneros, Fred N and Caparrotta, Laura and Martinuzzi, Andrea and Ragazzi, Eugenio and Ghelli, Anna and Sadun, Alfredo A and D'Amati, Giulia and Carelli, Valerio
Brain, ISSN 0006-8950, 01/2011, Volume 134, Issue 1, pp. 220 - 234
Leber's hereditary optic neuropathy, the most frequent mitochondrial disease due to mitochondrial DNA point mutations in complex I, is characterized by the... 
oestrogen | LHON | oestrogen receptors | mitochondrial disorders | oxidative stress | LOCALIZATION | CELLS | LOCUS | NEUROSCIENCES | CLINICAL NEUROLOGY | ER-ALPHA | BETA | BIOGENESIS | DNA | HARBORING MTDNA MUTATIONS | EXPRESSION | Immunohistochemistry | Estrogens - pharmacology | Reactive Oxygen Species - metabolism | Apoptosis - drug effects | Humans | Oxidative Stress - physiology | Male | Membrane Potential, Mitochondrial - drug effects | Retinal Ganglion Cells - metabolism | Retinal Ganglion Cells - pathology | Optic Atrophy, Hereditary, Leber - pathology | Optic Atrophy, Hereditary, Leber - metabolism | Membrane Potential, Mitochondrial - physiology | Estrogens - metabolism | Optic Atrophy, Hereditary, Leber - physiopathology | Estradiol - pharmacology | Superoxide Dismutase - metabolism | Cell Line | Estradiol - metabolism | DNA, Mitochondrial - metabolism | Mitochondria - drug effects | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Analysis of Variance | Apoptosis - physiology | Oxidative Stress - drug effects | Mitochondria - physiology | Retinal Ganglion Cells - drug effects
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10. Full Text Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies
by Yu-Wai-Man, Patrick and Griffiths, Philip G and Chinnery, Patrick F
Progress in Retinal and Eye Research, ISSN 1350-9462, 03/2011, Volume 30, Issue 2, pp. 81 - 114
Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are the two most common inherited optic neuropathies in the general... 
Glaucoma | Hereditary spastic paraplegia | Dominant optic atrophy | Neuroprotection | Multiple sclerosis | Mitofusin | Optic neuropathy | Optic neuritis | Leber hereditary optic neuropathy | Mitochondrial DNA | Retinal ganglion cell | NERVE-FIBER LAYER | SENSORINEURAL HEARING-LOSS | HUMAN-IMMUNODEFICIENCY-VIRUS | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | RETINAL GANGLION-CELLS | OPEN-ANGLE GLAUCOMA | MAGNETIC-RESONANCE-SPECTROSCOPY | NORMAL-TENSION GLAUCOMA | OPHTHALMOLOGY | MOHR-TRANEBJAERG-SYNDROME | Optic Nerve - pathology | Humans | Optic Atrophy, Hereditary, Leber - therapy | Retinal Ganglion Cells - pathology | Point Mutation | Optic Atrophy, Hereditary, Leber - pathology | Phenotype | Animals | DNA, Mitochondrial - genetics | Optic Atrophy, Autosomal Dominant - therapy | Optic Atrophy, Autosomal Dominant - pathology | Optic Atrophy, Autosomal Dominant - physiopathology | Optic Atrophy, Hereditary, Leber - physiopathology | Disease Models, Animal | Index Medicus
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