Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
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Genomic analysis of mouse retinal developmentThe molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatmentThe human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane spaceHeterozygous mutation of Drosophila Opa1 causes the development of multiple organ abnormalities in an age-dependent and organ-specific mannerDominant optic atrophy.Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production.First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophyMitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.Medical management of hereditary optic neuropathies.Persistence of oligodendrocyte precursor cells and altered myelination in optic nerve associated to retina degeneration in mice devoid of all thyroid hormone receptorsMitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.OPA1 expression in the normal rat retina and optic nervePattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutationsYeast as a system for modeling mitochondrial disease mechanisms and discovering therapies.Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.Metabolic optic neuropathies.TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicingIdentification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.Inherited mitochondrial optic neuropathies.Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.AUTOPHAGY, MITOCHONDRIAL DYNAMICS AND RETINAL DISEASES.Down-regulation of OPA1 alters mouse mitochondrial morphology, PTP function, and cardiac adaptation to pressure overload.The power of yeast to model diseases of the powerhouse of the cell.Chemically induced specification of retinal ganglion cells from human embryonic and induced pluripotent stem cells.Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+.Mitochondrial dynamic changes in health and genetic diseases.Disturbed mitochondrial dynamics and neurodegenerative disorders.Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy.Mitochondrial Dynamics in Mitochondrial Diseases.Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation.OPA1 analysis in an international series of probands with bilateral optic atrophy.A novel system for the classification of diseased retinal ganglion cells.
P2860
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P2860
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
description
1998 nî lūn-bûn
@nan
1998 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
@ast
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
@en
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
@en-gb
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
@nl
type
label
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
@ast
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
@en
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
@en-gb
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
@nl
prefLabel
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
@ast
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
@en
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
@en-gb
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
@nl
P2093
P2860
P356
P1476
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
@en
P2093
S S Bhattacharya
P2860
P304
P356
10.1136/JMG.35.10.793
P407
P577
1998-10-01T00:00:00Z