| scholarly article | Q13442814 |
| P2093 | author name string | Elise Héon | |
| Samuel G Jacobson | |||
| Alejandro J Roman | |||
| Artur V Cideciyan | |||
| Alexandra V Garafalo | |||
| Bhavya S Iyer | |||
| Arun K Krishnan | |||
| P2860 | cites work | Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin | Q24295284 |
| Melanopsin and rod-cone photoreceptive systems account for all major accessory visual functions in mice | Q24634030 | ||
| Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis | Q24678616 | ||
| Melanopsin-expressing ganglion cells in primate retina signal colour and irradiance and project to the LGN | Q28235603 | ||
| Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype | Q28292007 | ||
| Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis | Q28305398 | ||
| Measuring and using light in the melanopsin age. | Q30361752 | ||
| Fitting Linear Mixed-Effects Models Using lme4 | Q30477923 | ||
| Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy | Q30498337 | ||
| Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years | Q30537764 | ||
| Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells. | Q32186770 | ||
| Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation | Q33288985 | ||
| Characterization of an ocular photopigment capable of driving pupillary constriction in mice | Q33947881 | ||
| Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy | Q33992484 | ||
| Melanopsin-expressing intrinsically photosensitive retinal ganglion cells in retinal disease | Q34422125 | ||
| Leber congenital amaurosis: genes, proteins and disease mechanisms | Q34796759 | ||
| Review and update on the molecular basis of Leber congenital amaurosis | Q35050757 | ||
| Toward a clinical protocol for assessing rod, cone, and melanopsin contributions to the human pupil response | Q35221107 | ||
| Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients | Q36252686 | ||
| 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 mutants | Q36709692 | ||
| Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics | Q36937189 | ||
| Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations | Q36965608 | ||
| Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations | Q37317693 | ||
| The influence of intrinsically-photosensitive retinal ganglion cells on the spectral sensitivity and response dynamics of the human pupillary light reflex. | Q37480948 | ||
| Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. | Q37635389 | ||
| Non-syndromic retinal ciliopathies: translating gene discovery into therapy | Q38030482 | ||
| The diagnostic accuracy of chromatic pupillary light responses in diseases of the outer and inner retina | Q38804588 | ||
| Genes and molecular pathways underpinning ciliopathies | Q39429623 | ||
| Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. | Q39973030 | ||
| Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis | Q40134387 | ||
| Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis | Q40523047 | ||
| Paradoxical Pupillary Responses in Congenital Stationary Night Blindness | Q40659182 | ||
| Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. | Q41643474 | ||
| Human and macaque pupil responses driven by melanopsin-containing retinal ganglion cells | Q42288630 | ||
| Gene therapy restores vision in a canine model of childhood blindness | Q43590733 | ||
| Chromatic pupillometry dissects function of the three different light-sensitive retinal cell populations in RPE65 deficiency | Q45138134 | ||
| Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures | Q45238349 | ||
| Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining | Q45862739 | ||
| Development of a Chromatic Pupillography Protocol for the First Gene Therapy Trial in Patients With CNGA3-Linked Achromatopsia. | Q45865136 | ||
| Central versus peripheral visual field stimulation results in timing differences in dorsal stream sources as measured with MEG. | Q48427502 | ||
| Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations | Q48827784 | ||
| Choroideremia: melanopsin-mediated postillumination pupil relaxation is abnormally slow | Q50184014 | ||
| Analysis of retinal function using chromatic pupillography in retinitis pigmentosa and the relationship to electrically evoked phosphene thresholds | Q50196868 | ||
| Characterization of pupil responses to blue and red light stimuli in autosomal dominant retinitis pigmentosa due to NR2E3 mutation. | Q50243906 | ||
| The post-illumination pupil response of melanopsin-expressing intrinsically photosensitive retinal ganglion cells in diabetes | Q50273294 | ||
| Differential effect of long versus short wavelength light exposure on pupillary re-dilation in patients with outer retinal disease. | Q50273319 | ||
| Intrinsically photosensitive (melanopsin) retinal ganglion cell function in glaucoma | Q50278600 | ||
| Cellular and Circuit Mechanisms Shaping the Perceptual Properties of the Primate Fovea | Q50416740 | ||
| Chromatic pupillometry in patients with retinitis pigmentosa | Q50441844 | ||
| Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials. | Q50947743 | ||
| Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene. | Q50998128 | ||
| Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations. | Q53165022 | ||
| Translational Retinal Research and Therapies | Q58743510 | ||
| Rescue of cone function in cone-only knockout mouse model with Leber congenital amaurosis phenotype | Q61811497 | ||
| Standards in Pupillography | Q64110848 | ||
| Latency of the pupil light reflex: sample rate, stimulus intensity, and variation in normal subjects | Q73174213 | ||
| Pupil perimetry using M-sequence stimulation technique | Q73640444 | ||
| Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision | Q90152961 | ||
| Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect | Q90596716 | ||
| Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10 | Q91143094 | ||
| Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations | Q92267387 | ||
| Two-color pupillometry in KCNV2 retinopathy | Q92710461 | ||
| Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence | Q92850956 | ||
| Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness | Q93077443 | ||
| P921 | main subject | Leber congenital amaurosis | Q1811132 |
| P304 | page(s) | 53-63 | |
| P577 | publication date | 2020-02-20 | |
| P1433 | published in | Vision Research | Q1307852 |
| P1476 | title | Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function | |
| P478 | volume | 168 |
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