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Scientific reports, ISSN 2045-2322, 06/2020, Volume 10, Issue 1, pp. 10398 - 10398
Journal Article
Frontiers in neurology, ISSN 1664-2295, 08/2019, Volume 10
Journal Article
Talanta (Oxford), ISSN 0039-9140, 03/2019, Volume 194, pp. 26 - 31
Nanostructured SPE | EVOO | Alcohol dehydrogenase | Lipase | Enzymatic biosensor | Ionic liquid | Physical Sciences | Chemistry | Chemistry, Analytical | Science & Technology | Medical equipment | Usage | Electrical conductivity | Analysis | Nanotubes | Biosensors | Physiological apparatus | Electric properties | Alcohols | Index Medicus
Journal Article
American journal of ophthalmology, ISSN 0002-9394, 2014, Volume 158, Issue 3, pp. 628 - 636.e3
Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Cross-Sectional Studies | Follow-Up Studies | Cell Count | Humans | Middle Aged | Genetic Association Studies - methods | Male | Tomography, Optical Coherence - methods | Visual Acuity | Retinal Ganglion Cells - pathology | Young Adult | Time Factors | GTP Phosphohydrolases - genetics | Adolescent | Optic Atrophy, Autosomal Dominant - genetics | Adult | Female | Aged | Retrospective Studies | Mutation | Optic Atrophy, Autosomal Dominant - pathology | Child | Genetic aspects | Optic atrophy | Ganglion | Glaucoma | Genotype & phenotype | Disease | Colleges & universities | Standard deviation | Age | Index Medicus | Abridged Index Medicus
Journal Article
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 07/2019, Volume 126, Issue 7, pp. 1033 - 1044
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Electroretinography | Visual Pathways - physiology | Retinal Ganglion Cells - physiology | Evoked Potentials, Visual - physiology | Analysis of Variance | Humans | Middle Aged | Adult | Female | Male | Optic Atrophy, Hereditary, Leber - physiopathology | Case-Control Studies | Index Medicus
Journal Article
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 12/2017, Volume 124, Issue 12, pp. 1839 - 1848
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Nerve Fibers - pathology | Optical Imaging | Papilledema - classification | Reproducibility of Results | Eye Diseases, Hereditary - diagnostic imaging | Prospective Studies | Tomography, Optical Coherence | Humans | Child, Preschool | Male | Papilledema - diagnostic imaging | Retinal Ganglion Cells - pathology | Diagnostic Imaging - methods | Photography | Multimodal Imaging | Optic Nerve Diseases - classification | Optic Nerve Diseases - diagnostic imaging | Adolescent | Ultrasonography | Eye Diseases, Hereditary - classification | Female | Child | Diagnostic Techniques, Ophthalmological | Fluorescein Angiography | Pediatrics | Diagnostic imaging | Index Medicus
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Scientific reports, ISSN 2045-2322, 03/2020, Volume 10, Issue 1, pp. 4785 - 4785
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Loss of Function Mutation | Calcium - metabolism | Humans | Middle Aged | Endoplasmic Reticulum - metabolism | Male | Mutation, Missense | Wolfram Syndrome - genetics | Fibroblasts - ultrastructure | Young Adult | Wolfram Syndrome - etiology | Adult | Female | Child | Fibroblasts - metabolism | Lactic Acid | Membrane Proteins - genetics | Tomography, Optical Coherence | Wolfram Syndrome - metabolism | Mitochondria - metabolism | Biomarkers - blood | Mitochondria - pathology | Magnetic Resonance Imaging | Energy Metabolism | Adolescent | Wolfram Syndrome - diagnosis | Neuroimaging | Diabetes mellitus | Retina | Energy requirements | Calcium influx | Hereditary diseases | Atrophy | Magnetic resonance spectroscopy | Mitochondria | Missense mutation | Optic atrophy | Magnetic resonance imaging | Bioenergetics | Morphology | Phenotyping | Fibroblasts | Lactic acid | Endoplasmic reticulum | Calcium (reticular) | Index Medicus
Journal Article
Frontiers in neurology, ISSN 1664-2295, 2019, Volume 10, p. 846
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Brain (London, England : 1878), ISSN 0006-8950, 2014, Volume 137, Issue 2, pp. 335 - 353
mitochondrial biogenesis | mtDNA copy number | LHON penetrance | 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) | Humans | Middle Aged | Male | Optic Atrophy, Hereditary, Leber - genetics | Penetrance | Young Adult | DNA, Mitochondrial - genetics | Pedigree | Adolescent | Aged, 80 and over | Adult | Female | Aged | Mitochondrial Turnover - genetics | Optic Atrophy, Hereditary, Leber - diagnosis | Index Medicus | Abridged Index Medicus | Original
Journal Article
Graefe's archive for clinical and experimental ophthalmology, ISSN 0721-832X, 9/2015, Volume 253, Issue 9, pp. 1591 - 1600
Medicine & Public Health | Multifocal visual evoked potentials | Retinal ganglion cells function | LHON | Leber’s hereditary optic neuropathy | Ophthalmology | Mitochondrial optic neuropathy | Life Sciences & Biomedicine | Science & Technology | Visual Fields - physiology | Retinal Diseases - diagnosis | Visual Pathways - physiopathology | Tomography, Optical Coherence | Humans | Middle Aged | Male | Neural Conduction - physiology | Retinal Ganglion Cells - pathology | Young Adult | Evoked Potentials, Visual - physiology | Axons - pathology | Adult | Female | Visual Field Tests | Optic Atrophy, Hereditary, Leber - diagnosis | Retinal Diseases - physiopathology | Optic Atrophy, Hereditary, Leber - physiopathology | Visual Acuity - physiology | Visual Cortex - physiopathology | Index Medicus
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 9/2011, Volume 134, Issue 9, pp. e188 - e188
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Optic Atrophy, Hereditary, Leber - drug therapy | Antioxidants - therapeutic use | Humans | Ubiquinone - analogs & derivatives | Placebos | Ubiquinone - therapeutic use | Female | Male | Index Medicus | Abridged Index Medicus
Journal Article
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 2010, Volume 117, Issue 8, pp. 1547 - 1553
Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Cross-Sectional Studies | Optic Atrophy, Autosomal Dominant - diagnosis | Tomography, Optical Coherence | Humans | Middle Aged | Male | Young Adult | GTP Phosphohydrolases - genetics | Pedigree | Adolescent | Optic Atrophy, Autosomal Dominant - genetics | Polymerase Chain Reaction | Adult | Female | Aged | Mutation | Child | Optic Disk - pathology | Genetic aspects | Optic atrophy | Gene mutations | Molecular genetics | Analysis | Index Medicus
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