Unlocking therapeutic potential: dual gene therapy for ameliorating the disease phenotypes in a mouse model of RPE65 Leber congenital amaurosis. [PDF]
Front Med (Lausanne), 2023 Liu Y +5 more
europepmc +1 more source
A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility. [PDF]
Doc Ophthalmol, 2023 Sylla MM +5 more
europepmc +1 more source
Author response for "DYNC2H1 variants cause Leber congenital amaurosis without syndromic features"
, 2021 Junwon Lee +7 more
openalex +1 more source
State-of-the-art gene therapy for inherited retinal disorders
Клиническая офтальмологияO.I. Orenburkina1, A.E. Babushkin2 1Russian Center for Eye and Plastic Surgery of the Bashkir State Medical University, Ufa, Russian Federation 2Ufa Research Institute of Eye Diseases of the Bashkir State Medical University, Ufa, Russian ...
O.I. Orenburkina, A.E. Babushkin
doaj
Distrofias hereditarias retinianas: Estudio retrospectivo descriptivo [PDF]
, 2019 Nuestro objetivo es analizar la distribución de las diferentes patologías que componen las Distrofias Hereditarias de la Retina (DHR), describir las características de los pacientes afectos, además de conocer la proporción de pacientes que tienen hecho
Orduz Montaña, Willian Andrés
core +1 more source
Intravitreal Sepofarsen for Leber Congenital Amaurosis Type 10 (LCA10)
, 2020 Stephen R. Russell +31 more
openalex +1 more source
Author Correction: Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans. [PDF]
Commun Biol, 2023 Roy M +3 more
europepmc +1 more source
Bilateral exudative retinal detachments after subretinal gene therapy with voretigene neparvovec-rzyl for RPE65 Leber Congenital Amaurosis. [PDF]
Am J Ophthalmol Case Rep, 2023 Lidder AK +6 more
europepmc +1 more source