Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.
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Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophyThe genetics of normal and defective color visionA comprehensive review of retinal gene therapyA Naturally-Derived Compound Schisandrin B Enhanced Light Sensation in the pde6c Zebrafish Model of Retinal DegenerationMutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaREPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.A prospective longitudinal study of retinal structure and function in achromatopsia.Structural and genetic assessment of the ABCA4-associated optical gap phenotype.Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone healthLong-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapyPhotoreceptor structure and function in patients with congenital achromatopsia.Rod sensitivity, cone sensitivity, and photoreceptor layer thickness in retinal degenerative diseases.Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsiaCNGA3 deficiency affects cone synaptic terminal structure and function and leads to secondary rod dysfunction and degeneration.Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP)Mutation of ATF6 causes autosomal recessive achromatopsia.cGMP/Protein Kinase G Signaling Suppresses Inositol 1,4,5-Trisphosphate Receptor Phosphorylation and Promotes Endoplasmic Reticulum Stress in Photoreceptors of Cyclic Nucleotide-gated Channel-deficient Mice.Endoplasmic reticulum stress-associated cone photoreceptor degeneration in cyclic nucleotide-gated channel deficiency.Gene therapy of inherited retinopathies: a long and successful road from viral vectors to patients.Achromatopsia caused by novel missense mutations in the CNGA3 gene.The use of handheld spectral domain optical coherence tomography in pediatric ophthalmology practice: Our experience of 975 infants and children.A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family.Loss of cone cyclic nucleotide-gated channel leads to alterations in light response modulating system and cellular stress response pathways: a gene expression profiling study.Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.cGMP accumulation causes photoreceptor degeneration in CNG channel deficiency: evidence of cGMP cytotoxicity independently of enhanced CNG channel function.Retinal structure and function in achromatopsia: implications for gene therapy.Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.Allelic and phenotypic heterogeneity in ABCA4 mutations.Optical coherence tomography studies provides new insights into diagnosis and prognosis of infantile nystagmus: a review.Achromatopsia: case presentation and literature review emphasising the value of spectral domain optical coherence tomography.Rip3 knockdown rescues photoreceptor cell death in blind pde6c zebrafish'Congenital' nystagmus may hide various ophthalmic diagnoses.Multimodal imaging of foveal cavitation in retinal dystrophies.The cone dysfunction syndromes.Cone specific promoter for use in gene therapy of retinal degenerative diseases.Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.
P2860
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P2860
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.
description
2010 nî lūn-bûn
@nan
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
2010年论文
@zh
2010年论文
@zh-cn
name
Progressive loss of cones in a ...... optical coherence tomography.
@en
Progressive loss of cones in a ...... optical coherence tomography.
@nl
type
label
Progressive loss of cones in a ...... optical coherence tomography.
@en
Progressive loss of cones in a ...... optical coherence tomography.
@nl
prefLabel
Progressive loss of cones in a ...... optical coherence tomography.
@en
Progressive loss of cones in a ...... optical coherence tomography.
@nl
P2093
P356
P1476
Progressive loss of cones in a ...... n optical coherence tomography
@en
P2093
Alberta A H J Thiadens
Carel B Hoyng
Frans P M Cremers
L Ingeborgh van den Born
Mary J van Schooneveld
Norka van Moll-Ramirez
Robert W A M Kuijpers
Ville Somervuo
P304
P356
10.1167/IOVS.10-5680
P407
P577
2010-06-23T00:00:00Z