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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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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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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
Journal Article
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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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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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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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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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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Full Text
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
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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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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