Detalhe da pesquisa
1.
Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.
Int J Mol Sci
; 25(2)2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38256083
2.
Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy.
Mol Ther
; 28(1): 266-278, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31604676
3.
Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector.
Proc Natl Acad Sci U S A
; 115(36): E8547-E8556, 2018 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30127005
4.
BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.
Proc Natl Acad Sci U S A
; 115(12): E2839-E2848, 2018 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29507198
5.
Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function.
Int J Mol Sci
; 22(4)2021 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33670772
6.
A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration.
J Biol Chem
; 294(10): 3476-3488, 2019 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30622141
7.
Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials.
Int J Mol Sci
; 20(21)2019 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31717845
8.
Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for NR2E3 Clinical Treatment Trials.
Int J Mol Sci
; 20(10)2019 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31117170
9.
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
Hum Mol Genet
; 25(24): 5444-5459, 2016 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798110
10.
Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.
Hum Mol Genet
; 25(19): 4211-4226, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27506978
11.
Improvement and decline in vision with gene therapy in childhood blindness.
N Engl J Med
; 372(20): 1920-6, 2015 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25936984
12.
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
Hum Mol Genet
; 28(1): 175, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30285110
13.
Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes.
Adv Exp Med Biol
; 854: 169-75, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26427408
14.
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.
Proc Natl Acad Sci U S A
; 110(6): E517-25, 2013 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23341635
15.
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.
Hum Mol Genet
; 22(1): 168-83, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23035049
16.
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
Ophthalmology
; 122(5): 997-1007, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25616768
17.
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.
Proc Natl Acad Sci U S A
; 109(6): 2132-7, 2012 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22308428
18.
Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT.
Vision Res
; 218: 108379, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38460402
19.
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.
Hum Mol Genet
; 20(7): 1411-23, 2011 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21245082
20.
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.
Transl Vis Sci Technol
; 12(1): 25, 2023 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36692456