69 results on '"Schwartz, Sharon B."'
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2. Faster Sensitivity Loss around Dense Scotomas than for Overall Macular Sensitivity in Stargardt Disease: ProgStar Report No. 14
3. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration
4. Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12
5. Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene
6. Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations
7. Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene
8. Variegated yet non-random rod and cone photoreceptor disease patterns inRPGR-ORF15-associated retinal degeneration
9. Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations
10. Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2)
11. Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due toMYO7AMutations
12. SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa
13. Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration
14. Predicting Progression ofABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front
15. Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast
16. Improvement and Decline in Vision with Gene Therapy in Childhood Blindness
17. Genetics and Disease Expression in the CNGA3 Form of Achromatopsia
18. Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials
19. Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations
20. TULP1Mutations Causing Early-Onset Retinal Degeneration: Preserved but Insensitive Macular Cones
21. Inner and Outer Retinal Changes in Retinal Degenerations Associated WithABCA4Mutations
22. Human Cone Visual Pigment Deletions Spare Sufficient Photoreceptors to Warrant Gene Therapy
23. Intervisit Variability of Visual Parameters in Leber Congenital Amaurosis Caused byRPE65Mutations
24. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
25. Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness
26. Mutations inRPGRandRP2Account for 15% of Males with Simplex Retinal Degenerative Disease
27. 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
28. RPGR-Associated Retinal Degeneration in Human X-Linked RP and a Murine Model
29. Gene Therapy for Retinitis Pigmentosa Caused by MFRP Mutations: Human Phenotype and Preliminary Proof of Concept
30. Macular Function in Macular Degenerations: Repeatability of Microperimetry as a Potential Outcome Measure forABCA4-Associated Retinopathy Trials
31. Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in theMAKGene
32. Retinal Disease Course in Usher Syndrome 1B Due toMYO7AMutations
33. HumanCRB1-Associated Retinal Degeneration: Comparison with therd8 Crb1-Mutant Mouse Model
34. A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews
35. 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
36. Human Retinal Disease fromAIPL1Gene Mutations: Foveal Cone Loss with Minimal Macular Photoreceptors and Rod Function Remaining
37. Molecular Anthropology Meets Genetic Medicine to Treat Blindness in the North African Jewish Population: Human Gene Therapy Initiated in Israel
38. Normal Central Retinal Function and Structure Preserved in Retinitis Pigmentosa
39. CERKLMutations Cause an Autosomal Recessive Cone-Rod Dystrophy with Inner Retinopathy
40. HumanRPE65Gene Therapy for Leber Congenital Amaurosis: Persistence of Early Visual Improvements and Safety at 1 Year
41. Vision 1 Year after Gene Therapy for Leber's Congenital Amaurosis
42. Defining the Residual Vision in Leber Congenital Amaurosis Caused byRPE65Mutations
43. Disease Boundaries in the Retina of Patients with Usher Syndrome Caused byMYO7AGene Mutations
44. ABCA4 disease progression and a proposed strategy for gene therapy
45. Treatment of Leber Congenital Amaurosis Due toRPE65Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial
46. Photoreceptor Layer Topography in Children with Leber Congenital Amaurosis Caused byRPE65Mutations
47. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
48. Phase I Trial of Leber Congenital Amaurosis due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results
49. Retinal Laminar Architecture in Human Retinitis Pigmentosa Caused byRhodopsinGene Mutations
50. Inner Retinal Abnormalities in X-linked Retinitis Pigmentosa withRPGRMutations
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