295 results on '"Roman, Alejandro J"'
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52. Intravitreal Sepofarsen for Leber Congenital Amaurosis Type 10 (LCA10)
53. Antisense oligonucleotide treatment in CEP290‐related leber congenital amaurosis
54. Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due toCEP290orNPHP5Mutations: Predictions From Artificial Intelligence
55. Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for NR2E3 Clinical Treatment Trials
56. Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation
57. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
58. Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations
59. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration
60. Progression in X-linked Retinitis Pigmentosa Due toORF15-RPGRMutations: Assessment of Localized Vision Changes Over 2 Years
61. Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12
62. Cone Vision Changes in the Enhanced S-Cone Syndrome Caused byNR2E3Gene Mutations
63. Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells
64. Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene
65. Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene
66. Variegated yet non-random rod and cone photoreceptor disease patterns inRPGR-ORF15-associated retinal degeneration
67. Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations
68. Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2)
69. Developing an Outcome Measure With High Luminance for Optogenetics Treatment of Severe Retinal Degenerations and for Gene Therapy of Cone Diseases
70. Automated Light- and Dark-Adapted Perimetry for Evaluating Retinitis Pigmentosa: Filling a Need to Accommodate Multicenter Clinical Trials
71. Gene Therapy for Leber Congenital Amaurosis caused by RPE65 mutations: Safety and Efficacy in Fifteen Children and Adults Followed up to Three Years
72. Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration
73. Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast
74. Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials
75. Improvement in vision: a new goal for treatment of hereditary retinal degenerations
76. EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.
77. TULP1Mutations Causing Early-Onset Retinal Degeneration: Preserved but Insensitive Macular Cones
78. Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy
79. Inner and Outer Retinal Changes in Retinal Degenerations Associated WithABCA4Mutations
80. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
81. Intervisit Variability of Visual Parameters in Leber Congenital Amaurosis Caused byRPE65Mutations
82. 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
83. RPGR-Associated Retinal Degeneration in Human X-Linked RP and a Murine Model
84. Gene Therapy for Retinitis Pigmentosa Caused by MFRP Mutations: Human Phenotype and Preliminary Proof of Concept
85. Retinal Disease Course in Usher Syndrome 1B Due toMYO7AMutations
86. HumanCRB1-Associated Retinal Degeneration: Comparison with therd8 Crb1-Mutant Mouse Model
87. Defective photoreceptor phagocytosis in a mouse model of enhanced S‐cone syndrome causes progressive retinal degeneration
88. Human Retinal Disease fromAIPL1Gene Mutations: Foveal Cone Loss with Minimal Macular Photoreceptors and Rod Function Remaining
89. Molecular Anthropology Meets Genetic Medicine to Treat Blindness in the North African Jewish Population: Human Gene Therapy Initiated in Israel
90. Retinal Disease in Rpe65-Deficient Mice: Comparison to Human Leber Congenital Amaurosis Due toRPE65Mutations
91. Normal Central Retinal Function and Structure Preserved in Retinitis Pigmentosa
92. CERKLMutations Cause an Autosomal Recessive Cone-Rod Dystrophy with Inner Retinopathy
93. HumanRPE65Gene Therapy for Leber Congenital Amaurosis: Persistence of Early Visual Improvements and Safety at 1 Year
94. Defining the Residual Vision in Leber Congenital Amaurosis Caused byRPE65Mutations
95. Disease Boundaries in the Retina of Patients with Usher Syndrome Caused byMYO7AGene Mutations
96. Leber Congenital Amaurosis Caused by an RPGRIP1 Mutation Shows Treatment Potential
97. ABCA4 disease progression and a proposed strategy for gene therapy
98. Retinal Laminar Architecture in Human Retinitis Pigmentosa Caused byRhodopsinGene Mutations
99. Inner Retinal Abnormalities in X-linked Retinitis Pigmentosa withRPGRMutations
100. Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials
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