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Mitochondrion, ISSN 1567-7249, 05/2019, Volume 46, pp. 327 - 333
We report the results of molecular screening in 121 patients with suspected hereditary optic neuropathies. The 34 primary and 9 secondary LHON mutations were... 
Optic atrophy 1 (OPA1) | Mitochondrial DNA | Mutation | Autosomal dominant optic atrophy (ADOA) | LHON (Leber hereditary optic neuropathy) | PROTEIN | ATROPHY | ADOA | CELL BIOLOGY | PENETRANCE | FAMILIES | FREQUENCY | GENETICS & HEREDITY | SPECTRUM | OPA1 MUTATIONS | Genetic research | Analysis | Medical genetics
Journal Article
Klinische Monatsblatter fur Augenheilkunde, ISSN 0023-2165, 2011, Volume 228, Issue 6, pp. 565 - 568
LHON | OCT | ADOA
Journal Article
BRAIN, ISSN 0006-8950, 04/2007, Volume 130, pp. 1029 - 1042
Autosomal dominant optic atrophy (adOA) is a juvenile onset, progressive ocular disorder characterized by bilateral loss of vision, central visual field... 
MITOCHONDRIAL FUSION | APOPTOSIS | mouse model | SENSORINEURAL HEARING-LOSS | mitochondria | MEMBRANE | OPAI | NEUROSCIENCES | CLINICAL NEUROLOGY | CHROMOSOME 3Q REGION | adOA | LINKAGE ANALYSIS | splice site mutation | CYTOCHROME-C RELEASE | GTPASE | DYNAMIN-RELATED PROTEIN
Journal Article
Journal Article
JOURNAL OF THE NEUROLOGICAL SCIENCES, ISSN 0022-510X, 04/2015, Volume 351, Issue 1-2, pp. 99 - 108
Autosomal dominant optic atrophy (ADOA) is a hereditary optic neuropathy characterized by bilateral symmetrical visual loss, decrease in retinal ganglion cells... 
PROTEOLYTIC CLEAVAGE | MITOCHONDRIAL FUSION | OXIDATIVE-PHOSPHORYLATION | 2-Deoxy-D-ribose (dRib) | PROTEIN | Autosomal dominant optic atrophy (ADOA) | NEUROSCIENCES | FIBROBLASTS | CLINICAL NEUROLOGY | OPA1 | Caspase 3 | 2-DEOXY-D-RIBOSE | CYTOCHROME-C RELEASE | STRESS | ATAXIA-TELANGIECTASIA | MORPHOLOGY | Apoptosis | Peripheral blood lymphocytes (PBLs)
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 08/2012, Volume 13, Issue 1, pp. 65 - 65
Journal Article
Journal of Neurology, ISSN 0340-5354, 10/2015, Volume 262, Issue 10, pp. 2323 - 2328
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 05/2005, Volume 25, Issue 5, pp. 423 - 428
Autosomal dominant optic atrophy (ADOA), also known as Kjer disease, is characterized by moderate to severe loss of visual acuity with an insidious onset in... 
eOPA1 | database | autosomal dominant optic atrophy | ADOA | OPA1 | optic atrophy 1 | GENETICS & HEREDITY | autosotual dominant optic atrophy | GTP Phosphohydrolases - genetics | Base Sequence | Humans | Optic Atrophy, Autosomal Dominant - genetics | Molecular Sequence Data | Terminology as Topic | Mutation | Databases, Nucleic Acid | Index Medicus
Journal Article
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, ISSN 2296-634X, 09/2018, Volume 6, pp. 103 - 103
Background: Autosomal dominant optic atrophy (ADOA) is usually caused by mutations in the essential gene, OPA1. This encodes a ubiquitous protein involved in... 
CELLS | mouse model | MITOCHONDRIA | NEURODEGENERATION | DEVELOPMENTAL BIOLOGY | ADOA | AUTOPHAGY | CELL BIOLOGY | mitochondrial fragmentation | mitophagy | OPA1 | ARCHITECTURE | NEURONS | high content imaging | STRESS | EXPRESSION | OPA1 DEFICIENCY | Optic atrophy | Gene mutations | Rattus | Rats | Models | Genetic aspects | Research | Cells
Journal Article