The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
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Mitochondrial disease in adults: what's old and what's new?Prevalence of neurogenetic disorders in the North of EnglandA neurodegenerative perspective on mitochondrial optic neuropathiesLoss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesisA multiple sclerosis-like disorder in patients withOPA1mutationsDominant optic atrophy.Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifierImproved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.Treatment strategies for inherited optic neuropathies: past, present and futureFirst report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis.Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathiesPattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutationsThe reduction of temporal optic nerve head microcirculation in autosomal dominant optic atrophy.Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome.Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetryMutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathyMitochondrial DNA abnormalities in ophthalmological disease.The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.Missing X and Y: a review of participant ages in population-based eye studies.Treatment of hereditary optic neuropathies.Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+.Disturbed mitochondrial dynamics and neurodegenerative disorders.The Eye on Mitochondrial Disorders.Deficiencies in mitochondrial dynamics sensitize Caenorhabditis elegans to arsenite and other mitochondrial toxicants by reducing mitochondrial adaptability.Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia.Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.Changes in Choroidal Thickness follow the RNFL Changes in Leber's Hereditary Optic NeuropathyOPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy.Reply: Sensorineural hearing loss in OPA1-linked disorders.High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy.Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
P2860
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P2860
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
description
2010 nî lūn-bûn
@nan
2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
@ast
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
@en
type
label
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
@ast
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
@en
prefLabel
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
@ast
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
@en
P2093
P2860
P50
P1433
P1476
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
@en
P2093
Ailbhe Burke
Birgit Czermin
Desiree Ah-Kine
Gavin Hudson
Lawrence Gnanaraj
Michael P Clarke
Peter W Sellar
Philip G Griffiths
Robert W Taylor
P2860
P304
1538-46, 1546.e1
P356
10.1016/J.OPHTHA.2009.12.038
P577
2010-04-24T00:00:00Z