Results 161 to 170 of about 7,465 (249)

Development of Novel Patient-Reported Outcome (PRO) and Observer-Reported Outcome (ObsRO) Instruments in Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA): ViSIO-PRO and ViSIO-ObsRO. [PDF]

Ophthalmol Ther, 2023
Audo I, Patalano F, Naujoks C, Spera C, Fischer MD, Green J, Kay C, Durham T, Williamson N, Bradley H, Barclay M, Boparai K, Banhazi J.   +12 more
europepmc   +1 more source

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290 [PDF]

, 2012
Rob W.J. Collin, Anneke I. den Hollander, Saskia D. van der Velde-Visser, Jeannette Bennicelli, Jean Bennett, Frans P.M. Cremers   +5 more
openalex   +1 more source

A Novel <i>GUCY2D</i> Frameshift Deletion Identified in a Patient with Leber Congenital Amaurosis 1: A Case Report. [PDF]

Case Rep Ophthalmol
Zheng X, Gao Y, Wei T, Zhu L, Wang T, Wang B, Chen C, Liu Y, Yu Y.   +8 more
europepmc   +1 more source

Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial. [PDF]

Nat Med, 2022
Russell SR, Drack AV, Cideciyan AV, Jacobson SG, Leroy BP, Van Cauwenbergh C, Ho AC, Dumitrescu AV, Han IC, Martin M, Pfeifer WL, Sohn EH, Walshire J, Garafalo AV, Krishnan AK, Powers CA, Sumaroka A, Roman AJ, Vanhonsebrouck E, Jones E, Nerinckx F, De Zaeytijd J, Collin RWJ, Hoyng C, Adamson P, Cheetham ME, Schwartz MR, den Hollander W, Asmus F, Platenburg G, Rodman D, Girach A.   +31 more
europepmc   +1 more source

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

, 2017
Razek Georges Coussa, Irma Lopez Solache, Robert K. Koenekoop   +2 more
openalex   +2 more sources

Leber′s congenital amaurosis with nephropathy.

Indian Journal of Ophthalmology, 1994
Sharma K, Sharma Raj, Elhence R, Gulati S, Kher V   +4 more
doaj  

A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy. [PDF]

Mol Genet Genomic Med
Lee H, Moon D, Khang R, Seo GH, Yoon CK, Park UC, Park KH, Lee EK.   +7 more
europepmc   +1 more source

Correction to: "Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors". [PDF]

Hum Mol Genet, 2023
europepmc   +1 more source

Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort. [PDF]

J Ophthalmol, 2021
Mao Y, Long Y, Liu B, Cao Q, Li Y, Li S, Wang G, Meng X, Li S.   +8 more
europepmc   +1 more source

A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis

, 2018
Malik Ibrahim, Tuğba Alarcon-Martinez, I. López, Norma Fajardo, John Chiang, R. K. Koenekoop   +5 more
openalex   +1 more source