Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
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Structural basis of carotenoid cleavage: from bacteria to mammalsPupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells.Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapyLeber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathiesPseudo-fovea formation after gene therapy for RPE65-LCA.Mechanistically distinct mouse models for CRX-associated retinopathy.Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model.Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse modelLeber congenital amaurosis caused by mutations in RPGRIP1.Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosisOutcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrastCRB1 mutations in inherited retinal dystrophiesNovel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis PatientsNewborn thyroid-stimulating hormone in children with optic nerve hypoplasia: associations with hypothyroidism and visionNGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutantsNext-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy.Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosaThree-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene.Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies.Gene therapy for Leber congenital amaurosis: advances and future directions.CRB1: one gene, many phenotypes.A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.Gene and cell-based therapies for inherited retinal disorders: An update.Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypesReport of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy.Light prevents exogenous 11-cis retinal from maintaining cone photoreceptors in chromophore-deficient mice.DDA: A Novel Network-Based Scoring Method to Identify Disease-Disease Associations.Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.Expression Profiling Analysis Reveals Key MicroRNA-mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa.Retained Plasticity and Substantial Recovery of Rod-Mediated Visual Acuity at the Visual Cortex in Blind Adult Mice with Retinal Dystrophy
P2860
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P2860
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh
2010年學術文章
@zh-hant
name
Visual acuity in patients with ...... od-onset retinitis pigmentosa.
@en
Visual acuity in patients with ...... od-onset retinitis pigmentosa.
@nl
type
label
Visual acuity in patients with ...... od-onset retinitis pigmentosa.
@en
Visual acuity in patients with ...... od-onset retinitis pigmentosa.
@nl
prefLabel
Visual acuity in patients with ...... od-onset retinitis pigmentosa.
@en
Visual acuity in patients with ...... od-onset retinitis pigmentosa.
@nl
P2093
P50
P1433
P1476
Visual acuity in patients with ...... od-onset retinitis pigmentosa.
@en
P2093
Byron L Lam
Elias I Traboulsi
Gerald A Fishman
Mark E Pennesi
Rando Allikmets
Richard G Weleber
Robert K Koenekoop
Saloni Walia
Tomas S Aleman
P304
P356
10.1016/J.OPHTHA.2009.09.056
P577
2010-01-15T00:00:00Z