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1. Geographic atrophy: A histopathological assessment
by Bird, Alan C and Phillips, Rachel L and Hageman, Gregory S
JAMA ophthalmology, ISSN 2168-6165, 2014, Volume 132, Issue 3, pp. 338 - 345
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Bruch Membrane - pathology | Humans | Male | Microscopy, Electron | Retinal Pigment Epithelium - pathology | Geographic Atrophy - pathology | Aged, 80 and over | Female | Aged | Tissue Donors | Photoreceptor Cells, Vertebrate - pathology | Microscopy, Fluorescence | Fluorescein Angiography
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2. Full Text Dominant optic atrophy
by Lenaers, Guy and Hamel, Christian and Delettre, Cécile and Amati-Bonneau, Patrizia and Procaccio, Vincent and Bonneau, Dominique and Reynier, Pascal and Milea, Dan
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 46 - 46
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Founder Effect | Optic Atrophy, Autosomal Dominant - epidemiology | Prevalence | Humans | Optic Atrophy, Autosomal Dominant - genetics | Denmark | Optic Atrophy, Autosomal Dominant - physiopathology | Therapy | Optic nerve | Mutation | Eyes & eyesight | Index Medicus | Life Sciences | Genetics | Review
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3. β-Zone parapapillary atrophy and rates of glaucomatous visual field progression African descent and glaucoma evaluation study
by De Moraes, C. Gustavo and Murphy, James T and Kaplan, Chad M and Reimann, Jeremy J and Skaat, Alon and Blumberg, Dana M and Al-Aswad, Lama and Cioffi, George A and Girkin, Christopher A and Medeiros, Felipe A and Weinreb, Robert N and Zangwill, Linda and Liebmann, Jeffrey M
JAMA ophthalmology, ISSN 2168-6165, 06/2017, Volume 135, Issue 6, pp. 617 - 623
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | United States - epidemiology | Visual Fields - physiology | Prospective Studies | Scotoma - ethnology | Follow-Up Studies | Humans | Middle Aged | Optic Atrophy - ethnology | African Americans | Male | Time Factors | Female | Optic Atrophy - diagnosis | Glaucoma - physiopathology | Scotoma - diagnosis | Optic Atrophy - complications | Intraocular Pressure | Glaucoma - complications | Glaucoma - diagnosis | Visual Acuity | Disease Progression | Scotoma - etiology | Aged | Visual Field Tests | Optic Disk - pathology
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4. Full Text Hereditary optic neuropathies share a common mitochondrial coupling defect
by Chevrollier, Arnaud and Guillet, Virginie and Loiseau, Dominique and Gueguen, Naïg and Pou de Crescenzo, Marie‐Anne and Verny, Christophe and Ferre, Marc and Dollfus, Hélène and Odent, Sylvie and Milea, Dan and Goizet, Cyril and Amati‐Bonneau, Patrizia and Procaccio, Vincent and Bonneau, Dominique and Reynier, Pascal
Annals of neurology, ISSN 0364-5134, 06/2008, Volume 63, Issue 6, pp. 794 - 798
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction | Neurology | Biological and medical sciences | Medical sciences | Nervous system (semeiology, syndromes) | Optic Atrophies, Hereditary - genetics | Genetic Testing | Humans | Optic Atrophy, Autosomal Dominant - metabolism | Mitochondrial Diseases - metabolism | Optic Atrophy, Hereditary, Leber - genetics | Optic Atrophies, Hereditary - metabolism | Mitochondrial Diseases - complications | Mitochondria - genetics | Optic Atrophy, Hereditary, Leber - metabolism | DNA Mutational Analysis | Energy Metabolism - genetics | Optic Atrophy, Autosomal Dominant - physiopathology | Optic Atrophy, Hereditary, Leber - physiopathology | Fibroblasts - metabolism | Mitochondrial Diseases - genetics | Genetic Predisposition to Disease - genetics | Cells, Cultured | Oxidative Phosphorylation | Genotype | Mitochondria - metabolism | Proteins - genetics | GTP Phosphohydrolases - genetics | Optic Atrophy, Autosomal Dominant - genetics | Mutation | Optic Atrophies, Hereditary - physiopathology | Index Medicus | GTP Phosphohydrolases | Genetic Predisposition to Disease | Mitochondrial Diseases | Proteins | Life Sciences | Human health and pathology | Mitochondria | Energy Metabolism | Fibroblasts | Optic Atrophy, Hereditary, Leber | Optic Atrophies, Hereditary | Optic Atrophy, Autosomal Dominant | Genetic Screening
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5. Full Text Optical coherence tomography reflects brain atrophy in multiple sclerosis: A four‐year study
by Saidha, Shiv and Al‐Louzi, Omar and Ratchford, John N and Bhargava, Pavan and Oh, Jiwon and Newsome, Scott D and Prince, Jerry L and Pham, Dzung and Roy, Snehashis and van Zijl, Peter and Balcer, Laura J and Frohman, Elliot M and Reich, Daniel S and Crainiceanu, Ciprian and Calabresi, Peter A
Annals of neurology, ISSN 0364-5134, 11/2015, Volume 78, Issue 5, pp. 801 - 813
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Follow-Up Studies | Humans | Middle Aged | Male | Thalamus - pathology | Tomography, Optical Coherence - methods | Disease Progression | Retinal Ganglion Cells - pathology | Atrophy | Magnetic Resonance Imaging | Brain - pathology | Multiple Sclerosis - pathology | Adult | Female | Aged | Optic Neuritis - pathology | Longitudinal Studies | Retina - pathology | Tomography | Multiple sclerosis | Index Medicus
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6. Full Text Characteristic retinal atrophy with secondary “inverse” optic atrophy identifies vigabatrin toxicity in children
by Buncic, J.Raymond and Westall, Carol A and Panton, Carole M and Munn, J.Robert and MacKeen, Leslie D and Logan, William J
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 2004, Volume 111, Issue 10, pp. 1935 - 1942
Biological and medical sciences | Medical sciences | Ophthalmology | Retinopathies | Diseases of visual field, optic nerve, optic chiasma and optic tracts | Electroretinography | Optic Atrophy - chemically induced | Retina - drug effects | Humans | Retina - physiopathology | Seizures - drug therapy | Optic Atrophy - physiopathology | Infant | Male | Atrophy | Anticonvulsants - adverse effects | Visual Fields | Adolescent | Vigabatrin - adverse effects | Female | Visual Field Tests | Child | Index Medicus
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7. Full Text Swept-source optical coherence tomography angiography reveals choriocapillaris alterations in eyes with nascent geographic atrophy and drusen-associated geographic atrophy
by Moult, Eric M and Waheed, Nadia K and Novais, Eduardo A and Choi, Woojhon and Lee, Byungkun and Ploner, Stefan B and Cole, Emily D and Louzada, Ricardo N and Lu, Chen D and Rosenfeld, Philip J and Duker, Jay S and Fujimoto, James G
Retina (Philadelphia, Pa.), ISSN 0275-004X, 2016, Volume 36, pp. S2 - S11
Nascent geographic atrophy | Choriocapillaris | Optical coherence tomography | Optical coherence tomography angiography | Age-related macular degeneration | Drusen-associated atrophy | Artifacts | Geographic Atrophy - diagnostic imaging | Computed Tomography Angiography - methods | Humans | Optic Disk Drusen - complications | Choroid - blood supply | Geographic Atrophy - etiology | Optic Disk Drusen - diagnostic imaging | Female | Male | Aged | Tomography, Optical Coherence - methods | Index Medicus
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8. Full Text The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype
by Rouzier, Cécile and Bannwarth, Sylvie and Chaussenot, Annabelle and Chevrollier, Arnaud and Verschueren, Annie and Bonello-Palot, Nathalie and Fragaki, Konstantina and Cano, Aline and Pouget, Jean and Pellissier, Jean-François and Procaccio, Vincent and Chabrol, Brigitte and Paquis-Flucklinger, Véronique
Brain (London, England : 1878), ISSN 0006-8950, 1/2012, Volume 135, Issue 1, pp. 23 - 34
mitochondrial DNA instability | dominant optic atrophy | MFN2 | Charcot-Marie-Tooth 2A | mitochondrial fusion | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Mitochondrial Myopathies - metabolism | Optic Atrophy - complications | DNA, Mitochondrial - metabolism | Mitochondrial Myopathies - complications | Humans | Middle Aged | Male | Mitochondrial Proteins - genetics | Mutation, Missense | Mitochondrial Myopathies - genetics | DNA, Mitochondrial - genetics | GTP Phosphohydrolases - metabolism | GTP Phosphohydrolases - genetics | Mitochondrial Proteins - metabolism | Optic Atrophy - metabolism | Pedigree | Adolescent | Adult | Female | DNA Damage | Child | Optic Atrophy - genetics | Charcot-Marie-Tooth disease | Index Medicus | Abridged Index Medicus
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9. Full Text OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
by Amati-Bonneau, Patrizia and Valentino, Maria Lucia and Reynier, Pascal and Gallardo, Maria Esther and Bornstein, Belén and Boissière, Anne and Campos, Yolanda and Rivera, Henry and de la Aleja, Jesús González and Carroccia, Rosanna and Iommarini, Luisa and Labauge, Pierre and Figarella-Branger, Dominique and Marcorelles, Pascale and Furby, Alain and Beauvais, Katell and Letournel, Franck and Liguori, Rocco and La Morgia, Chiara and Montagna, Pasquale and Liguori, Maria and Zanna, Claudia and Rugolo, Michela and Cossarizza, Andrea and Wissinger, Bernd and Verny, Christophe and Schwarzenbacher, Robert and Martín, Miguel Ángel and Arenas, Joaquιn and Ayuso, Carmen and Garesse, Rafael and Lenaers, Guy and Bonneau, Dominique and Carelli, Valerio
Brain (London, England : 1878), ISSN 0006-8950, 2/2008, Volume 131, Issue 2, pp. 338 - 351
Chronic progressive external ophthalmoplegia | Dominant optic atrophy | Mitochondrial encephalomyopathy | Mitochondria | mtDNA multiple deletions | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Ophthalmoplegia, Chronic Progressive External - pathology | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Mutation, Missense | DNA Mutational Analysis - methods | Ophthalmoplegia, Chronic Progressive External - genetics | DNA, Mitochondrial - genetics | Base Sequence | Muscle, Skeletal - chemistry | Adult | Female | Optic Atrophy, Autosomal Dominant - pathology | Child | Muscle, Skeletal - ultrastructure | Models, Molecular | Fibroblasts - pathology | Mitochondrial Myopathies - pathology | Syndrome | Magnetic Resonance Imaging | Point Mutation | Mitochondrial Myopathies - genetics | GTP Phosphohydrolases - genetics | Pedigree | Optic Atrophy, Autosomal Dominant - genetics | Aged | Index Medicus | Abridged Index Medicus | GTP Phosphohydrolases | Neurons and Cognition | DNA, Mitochondrial | Life Sciences | DNA Mutational Analysis | Fibroblasts | Optic Atrophy, Autosomal Dominant | Mitochondrial Myopathies | Ophthalmoplegia, Chronic Progressive External | Muscle, Skeletal
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10. Full Text Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA)
by Silver, Michael R and Sethi, Kapil D and Mehta, Shyamal H and Nichols, Fenwick T and Morgan, John C
BMC neurology, ISSN 1471-2377, 12/2015, Volume 15, Issue 1, pp. 260 - 260
Ataxia | Optic atrophy | Dystonia | Dentatorubropallidoluysian Atrophy (DRPLA) | African American | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Optic Atrophy - etiology | Humans | Middle Aged | Leukoencephalopathies - etiology | Myoclonic Epilepsies, Progressive - complications | Ataxia - etiology | Male | Myoclonic Epilepsies, Progressive - genetics | Dystonia - etiology | Trinucleotide Repeats - genetics | Nerve Tissue Proteins - genetics | Complications and side effects | Care and treatment | Activities of daily living | Analysis | Nervous system | Degeneration | Research | Movement disorders | Risk factors | Index Medicus | Case Report
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