Results 141 to 150 of about 417,668 (180)

12-month outcomes after voretigene neparvovec gene therapy in paediatric patients with RPE65-mediated inherited retinal dystrophy. [PDF]

Br J Ophthalmol
Daruich A, Rateaux M, Batté E, de Vergnes N, Valleix S, Robert MP, Bremond Gignac D.   +6 more
europepmc   +1 more source

Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population. [PDF]

Sci Rep
Natsume K, Kominami T, Goto K, Koyanagi Y, Inooka T, Ota J, Kawano K, Yamada K, Okuda D, Yuki K, Nishiguchi KM, Ushida H.   +11 more
europepmc   +1 more source

Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes. [PDF]

Int J Mol Sci
Maggi J, Feil S, Gloggnitzer J, Maggi K, Bachmann-Gagescu R, Gerth-Kahlert C, Koller S, Berger W.   +7 more
europepmc   +1 more source

Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice. [PDF]

Eye (Lond)
Testa F, Bacci G, Falsini B, Iarossi G, Melillo P, Mucciolo DP, Murro V, Salvetti AP, Sodi A, Staurenghi G, Simonelli F.   +10 more
europepmc   +1 more source

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. [PDF]

Am J Ophthalmol, 2019
Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ.   +21 more
europepmc   +1 more source

Systemic inflammation induced by lipopolysaccharide aggravates inherited retinal dystrophy. [PDF]

Cell Death Dis, 2018
Noailles A, Maneu V, Campello L, Lax P, Cuenca N.   +4 more
europepmc   +1 more source

Deep Learning for Diagnosis of Choroideremia and <i>USH2A</i>-Associated Rod-Cone Dystrophy Using Macular OCT Volumes. [PDF]

Ophthalmol Sci
Mairot K, Meunier I, Bocquet B, Stolowy N, Ramtohul P, Zanlonghi X, Denis D, David T, Matonti F, Perrinet LU.   +9 more
europepmc   +1 more source

An <i>HK1</i> pathogenic variant associated with an atypical retinal dystrophy phenotype: a case report and insights from literature. [PDF]

Int J Ophthalmol
Su YY, Qiu KR, Wen F, Zhou XL.
europepmc   +1 more source

EDSpliCE, a CRISPR-Cas9 gene editing platform to rescue splicing, effectively corrects inherited retinal dystrophy-associated splicing defects

Angeli PD, Shliaga S, Flores-Tufiño A, Roschi E, Spaag S, Stingl K, Kühlewein L, Wissinger B, Kohl S.   +8 more
europepmc   +1 more source