Results 121 to 130 of about 266,209 (210)

Improved ganglion cell light responsiveness following induced pluripotent stem cell (iPSC) transplantation in a model of Leber\u27s congenital amaurosis (LCA)

, 2012
We describe characteristic deterioration in spontaneous and light-evoked electrophysiologic activity of retinal ganglion cells in an animal model of Leber\u27s congenital amaurosis (LCA), the most common genetic cause of early childhood ...
Steven F. Stasheff; Michael P. Andrews; Budd Tucker; Malini Shankar
core  

A novel <i>CRB1</i> variant presenting as Leber congenital amaurosis-8 with angle-closure glaucoma in a Chinese family. [PDF]

Int J Ophthalmol
Chen G, Wang ZR, Zhao C, Chen HH, Shi JM.   +4 more
europepmc   +1 more source

Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy. [PDF]

BMC Ophthalmol
Wang L, Li M, Dou G, Sun J, Zhou Z, Wang Y, Zhang Z.   +6 more
europepmc   +1 more source

Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis. [PDF]

Stem Cell Reports, 2022
Leung A, Sacristan-Reviriego A, Perdigão PRL, Sai H, Georgiou M, Kalitzeos A, Carr AF, Coffey PJ, Michaelides M, Bainbridge J, Cheetham ME, van der Spuy J.   +11 more
europepmc   +1 more source

Neural Network Prediction of Keratoconus in AIPL1-Linked Leber Congenital Amaurosis: A Proof-of-Concept Pilot Study. [PDF]

J Clin Med
Chow DR, Remtulla R, Vargas G, Leite G, Koenekoop RK.   +4 more
europepmc   +1 more source

Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated Leber congenital amaurosis. [PDF]

Graefes Arch Clin Exp Ophthalmol, 2022
Deng C, Zhao PY, Branham K, Schlegel D, Fahim AT, Jayasundera TK, Khan N, Besirli CG.   +7 more
europepmc   +1 more source

Coats-like vasculopathy in RDH12 Leber congenital amaurosis. [PDF]

Eye (Lond)
Ramtohul P, Aziz A, David T.
europepmc   +1 more source

Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis. [PDF]

Biomedicines, 2022
Gerhardt MJ, Priglinger CS, Rudolph G, Hufendiek K, Framme C, Jägle H, Salchow DJ, Anschütz A, Michalakis S, Priglinger SG.   +9 more
europepmc   +1 more source

Minocycline treatment reduces the activation of mononuclear phagocytes and improves retinal function in a mouse model of Leber congenital amaurosis. [PDF]

Graefes Arch Clin Exp Ophthalmol
Bubis E, Sher I, Ketter-Katz H, Derzane E, Sennlaub F, Rotenstreich Y.   +5 more
europepmc   +1 more source

Preclinical studies in support of phase I/II clinical trials to treat <i>GUCY2D</i>-associated Leber congenital amaurosis. [PDF]

Mol Ther Methods Clin Dev, 2023
Boye SL, O'Riordan C, Morris J, Lukason M, Compton D, Baek R, Elmore DM, Peterson JJ, Fajardo D, McCullough KT, Scaria A, McVie-Wylie A, Boye SE.   +12 more
europepmc   +1 more source