Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 5 of 5 for “"Dominant optic atrophy"”.
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Evaluation of the visual pathway with ERG, mfERG and mfVEP in inherited eye disorders
… visual function in these patients. Patients with dominant optic atrophy and a known mutation in the OPA-1 gene have a very variable clinical phenotype. MfVEP and ocular blood flow measurements are two new methods for improved identification and characterization of this disorder. A patient with a …
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Investigating quality of life in inherited optic neuropathies: Evaluating patient experiences and outcome measures
Inherited optic neuropathies (IONs) are a group of rare eye diseases characterised by bilateral and progressive degeneration of the optic nerve due to mitochondrial dysfunction. The two most common IONs encountered in clinical practice are autosomal dominant optic atrophy (DOA) and Leber hereditary …
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Mitofusin 2 Regulated Transport of Mitochondria is Necessary for Axonal Integrity
… in or haplo-insufficiency of opa-1 leads to Dominant Optic Atrophy: DOA) but not degeneration of long peripheral axons, highlighting the potential importance of mitochondrial transport for axon integrity. To further test our hypothesis that mitochondrial transport is critical for the …
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Mitochondrial dysfunction in hereditary optic neuropathies
MITOCHONDRIAL DYSFUNCTION IN HEREDITARY OPTIC NEUROPATHIES Mitochondrial pathologies are a heterogeneous group of clinical manifestations characterized by oxidative phosphorylation impairment. At the beginning of their recognition mitochondrial pathologies were regarded as rare disorders but indeed …
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Genotype and phenotype in mitochondrial disorders
… most commonly m.3243A>G, Leber Hereditary Optic Neuropathy, and large scale mtDNA rearrangements. The commonest nuclear genetic diagnoses were SPG7, dominant optic atrophy (OPA1) and autosomal recessive POLG. We have linked to Hospital Episode Statistics, death certificates and the cancer …