Results 121 to 130 of about 971 (147)

Advancements in CRISPR-based therapies for ocular pathologies: from disease mechanisms to intervention strategies. [PDF]

Theranostics
Li Q, Bao Q, Zhao S, Wu F, Li Y, Wang K, Li W, Gao H.   +7 more
europepmc   +1 more source

From Genetic Diagnosis to Therapeutic Implementation in Retinal Diseases: Translational Advances and Persistent Bottlenecks. [PDF]

Biomedicines
Menna F, Pinelli C, De Luca L, Meduri A, Baldascino A, Lupo S, Vingolo EM.   +6 more
europepmc   +1 more source

Strabismus in an Adolescent With Stargardt Disease: An Atypical Presentation. [PDF]

Cureus
López-Fontanet JJ, Guardiola Dávila G, Izquierdo N, Oliver A.   +3 more
europepmc   +1 more source

Improving personalised genetic counselling for ABCA4 -associated retinopathy: Updated recurrence risk estimates. [PDF]

Med Genet
Cornelis SS, Cremers FPM.
europepmc   +1 more source

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy. [PDF]

Invest Ophthalmol Vis Sci
Panneman DM, Hitti-Malin RJ, McKibbin M, de Bruijn SE, Boonen EGM, Vincent AL, Vargas G, Corominas J, Astuti G, Gilissen C, De Baere E, Inglehearn CF, Roosing S, Koenekoop RK, Cremers FPM.   +14 more
europepmc   +1 more source

Loss of retinal stem cell reserve and lipofuscin accumulation accelerates cone-rod degeneration and replicates Stargardt disease in abca4b null zebrafish. [PDF]

Sci Rep
Pidishetty D, Damera SK, Murugavel M, Susaimanickam PJ, Chittajallu SNSH, Kushawah G, Sarkar P, Bharadwaj SR, Mishra R, Mariappan I.   +9 more
europepmc   +1 more source

Superotemporal predisposition to traumatic subretinal fibrosis in Stargardt disease: A case report. [PDF]

Am J Ophthalmol Case Rep
Nassur JA, Pulido JS, Procopio R, Ghoneim AA, Orlin A, Kaiser RS, Hamdan SA.   +6 more
europepmc   +1 more source

Longitudinal scRNA-seq of retinal organoids derived from Stargardt disease patient with ABCA4 mutation. [PDF]

Sci Data
Zhao Y, Cheng Y, Li T, Wu J, Li C, Zhang S, Wu J.   +6 more
europepmc   +1 more source

Retinoid dynamics in vision: from visual cycle biology to retina disease treatments. [PDF]

Pharmacol Ther
Swigris J, Widjaja-Adhi MAK, Golczak M.
europepmc   +1 more source

Different clinical expressions in two families with Stargardt’s macular dystrophy (STGD1)

Acta Ophthalmologica, 2001
Purpose: To describe the clinical expressions, with emphasis on electrophysiological examinations, in two Swedish families with Stargardt's macular dystrophy (STGD1). Methods.
Magnus Abrahamson, Sten Andréasson, S Andréasson   +2 more
exaly   +3 more sources