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Eye (Basingstoke), ISSN 0950-222X, 03/2017, Volume 31, Issue 3, pp. 475 - 480
Journal Article
Mitochondrion, ISSN 1567-7249, 05/2019, Volume 46, pp. 262 - 269
Autosomal Dominant Optic Atrophy (ADOA) is a neuro-ophthalmic disease characterized by progressive bilateral vision loss, pallor of the optic disc, central... 
Autosomal dominant | Mitochondria | Optic atrophy | OPA1 | Ataxia | Genotype/phenotype | Meta-analysis | Hearing loss | Myopathy | Genetic research | Disease susceptibility | Genetic aspects | Analysis | Genes
Journal Article
MITOCHONDRION, ISSN 1567-7249, 05/2019, Volume 46, pp. 262 - 269
Autosomal Dominant Optic Atrophy (ADOA) is a neuro-ophthalmic disease characterized by progressive bilateral vision loss, pallor of the optic disc, central... 
Autosomal dominant | SENSORINEURAL HEARING-LOSS | Meta-analysis | Hearing loss | DELETION | CELL BIOLOGY | Mitochondria | Optic atrophy | NEUROPATHY | OPA1 | GENE | OPHTHALMOPLEGIA | DISEASE | GENETICS & HEREDITY | Ataxia | DEAFNESS | PATIENT | Genotype/phenotype | JAPANESE PATIENTS | Myopathy | PLUS
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 6, p. e21347
Autosomal Dominant Optic Atrophy (ADOA) is the most common inherited optic atrophy where vision impairment results from specific loss of retinal ganglion cells... 
STEREOSCOPIC ANALYSIS | FUSION | HETEROZYGOUS MUTATION | COMPLEX-I | DNA | MULTIDISCIPLINARY SCIENCES | NEUROPATHIES | NERVE HEAD | DYSFUNCTION | DYNAMIN-RELATED PROTEIN | OPA1 MUTATIONS | Humans | Middle Aged | Optic Atrophy, Autosomal Dominant - metabolism | Male | Mitochondrial Proteins - genetics | Adenosine Triphosphate - biosynthesis | Young Adult | Vision, Ocular - physiology | DNA, Mitochondrial - genetics | Mitochondrial Proteins - metabolism | Adult | Female | Child | Optic Atrophy, Autosomal Dominant - physiopathology | Biomarkers - metabolism | Oxidative Phosphorylation | Mitochondria - metabolism | Mitochondria - pathology | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | GTP Phosphohydrolases - metabolism | GTP Phosphohydrolases - genetics | Pedigree | Adolescent | Cell Extracts | Aged | Care and treatment | Genetic aspects | Optic atrophy | Genes | Oxidative stress | Phosphorylation | Impairment | Retina | Genomes | Mitochondrial DNA | Thyroid gland | Acuity | Proteins | Atrophy | Mitochondria | Ischemia | Compensation | Fibroblasts | Fusion protein | Ganglion cells | Deoxyribonucleic acid--DNA | Siblings | Optic nerve | Cloning | Phenotypic variations | Visual acuity | Patients | Studies | Genetic variance | Retinal ganglion cells | Oxidative phosphorylation | Biopsy | Vision | Cell lines | Photographs | Mutation | Enzymology | Electron transport | Respiration | ATP | Apoptosis | Deoxyribonucleic acid
Journal Article