Pages that link to "Q40727742"

The following pages link to A Clinicopathologic Study of Autosomal Dominant Optic Atrophy (Q40727742):

Displaying 50 items.

• OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 (Q24290356) (← links)
• Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy (Q24517959) (← links)
• Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus (Q24800759) (← links)
• A neurodegenerative perspective on mitochondrial optic neuropathies (Q28072026) (← links)
• Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy (Q28140286) (← links)
• Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies (Q28295091) (← links)
• A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family (Q30368414) (← links)
• Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene. (Q31014267) (← links)
• Yeast models of human mitochondrial diseases: from molecular mechanisms to drug screening (Q33253398) (← links)
• Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity (Q33679813) (← links)
• A Novel Class of Tests for the Detection of Mitochondrial DNA–Mutation Involvement in Diseases (Q33904880) (← links)
• Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy. (Q33945277) (← links)
• Pattern electroretinography (PERG) and an integrated approach to visual pathway diagnosis (Q34272310) (← links)
• OPA1 expression in the normal rat retina and optic nerve (Q34312557) (← links)
• The neuro-ophthalmology of mitochondrial disease (Q34338783) (← links)
• Disc excavation in dominant optic atrophy: differentiation from normal tension glaucoma (Q34355662) (← links)
• Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy (Q34586889) (← links)
• Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations (Q34980264) (← links)
• Oligodendroglial differentiation induces mitochondrial genes and inhibition of mitochondrial function represses oligodendroglial differentiation (Q35056790) (← links)
• A review of primary hereditary optic neuropathies (Q35188343) (← links)
• Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors (Q35190973) (← links)
• Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy (Q35590374) (← links)
• The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms (Q35590561) (← links)
• A new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics (Q35657086) (← links)
• Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies (Q35687142) (← links)
• Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction (Q35708874) (← links)
• Metabolic optic neuropathies (Q35932500) (← links)
• Electrophysiological assessment of optic nerve disease (Q38634042) (← links)
• Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy. (Q37029258) (← links)
• Inherited mitochondrial optic neuropathies (Q37098009) (← links)
• Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect (Q37140630) (← links)
• Electrophysiology and colour perimetry in dominant infantile optic atrophy (Q37293984) (← links)
• The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses (Q37616208) (← links)
• Mouse models of dominant optic atrophy: what do they tell us about the pathophysiology of visual loss? (Q37783778) (← links)
• Microcystic changes in the retinal internal nuclear layer associated with optic atrophy: a prospective study (Q38257797) (← links)
• Evaluation of the Acquisition of the Aerobic Metabolic Capacity by Myelin, during its Development. (Q40202728) (← links)
• Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy (Q40523875) (← links)
• OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear. (Q41791773) (← links)
• High-resolution en face images of microcystic macular edema in patients with autosomal dominant optic atrophy (Q42181628) (← links)
• The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy (Q42379460) (← links)
• Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer (Q42950881) (← links)
• The OPA1 gene and optic neuropathy (Q43009005) (← links)
• Characterization of OPA1 isoforms isolated from mouse tissues (Q44071219) (← links)
• Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy (Q45125308) (← links)
• Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level (Q45483589) (← links)
• Axonal loss occurs early in dominant optic atrophy (Q46080771) (← links)
• Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20 1G-->A) associated with intron retention (Q46592463) (← links)
• Optic disc rim area to retinal nerve fiber layer thickness correlation: comparison of diabetic and normal tension glaucoma eyes (Q46632321) (← links)
• Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation. (Q46916665) (← links)
• Neural-specific deletion of mitochondrial p32/C1qbp leads to leukoencephalopathy due to undifferentiated oligodendrocyte and axon degeneration (Q47112971) (← links)