295 results on '"Roman, Alejandro J"'
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2. Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial
3. Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial
4. Full-field stimulus testing: Role in the clinic and as an outcome measure in clinical trials of severe childhood retinal disease
5. Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis
6. Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations
7. Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology
8. Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report
9. Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy.
10. Faster Sensitivity Loss around Dense Scotomas than for Overall Macular Sensitivity in Stargardt Disease: ProgStar Report No. 14
11. Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function
12. Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations
13. Safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: a phase 1/2, multicentre, open-label, unilateral dose escalation study
14. Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation–Effect of an ALG6 Modifier Variant
15. Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5
16. Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in CEP290-LCA: Replication in two eyes
17. Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12
18. Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation
19. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
20. Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations
21. Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations
22. Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2)
23. Durable Vision Improvement After a Single Intravitreal Treatment With Antisense Oligonucleotide in CEP290-Lca: Replication in Two Eyes
24. Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy
25. Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial
26. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
27. Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa
28. Night Vision Restored in Days After Decades of Congenital Blindness
29. Human Gene Therapy for RPE65 Isomerase Deficiency Activates the Retinoid Cycle of Vision but with Slow Rod Kinetics
30. Probing Mechanisms of Photoreceptor Degeneration in a New Mouse Model of the Common Form of Autosomal Dominant Retinitis Pigmentosa due to P23H Opsin Mutations
31. Human Cone Photoreceptor Dependence on RPE65 Isomerase
32. Additional file 3 of Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis
33. Additional file 2 of Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis
34. Improvement and Decline in Vision with Gene Therapy in Childhood Blindness
35. Measures of Function and Structure to Determine Phenotypic Features, Natural History, and Treatment Outcomes in Inherited Retinal Diseases
36. Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic Microperimetry
37. A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration
38. Late-Onset Retinal Degeneration Caused by C1QTNF5 Mutation: Sub–Retinal Pigment Epithelium Deposits and Visual Consequences
39. Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation
40. Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function
41. Safety of Recombinant Adeno-Associated Virus Type 2–RPE65 Vector Delivered by Ocular Subretinal Injection
42. 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
43. Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations: Safety and Efficacy in 15 Children and Adults Followed Up to 3 Years
44. 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
45. Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial
46. Faster Sensitivity Loss around Dense Scotomas than for Overall Macular Sensitivity in Stargardt Disease: ProgStar Report No. 14
47. Vision 1 Year after Gene Therapy for Leberʼs Congenital Amaurosis
48. ABCA4 disease progression and a proposed strategy for gene therapy
49. Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures
50. Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism
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