Results 141 to 150 of about 7,465 (249)

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

Visual function restoration in a mouse model of Leber congenital amaurosis via therapeutic base editing. [PDF]

Mol Ther Nucleic Acids, 2023
Jo DH, Jang HK, Cho CS, Han JH, Ryu G, Jung Y, Bae S, Kim JH.   +7 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

Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants [PDF]

, 2015
Yo Sasaki, Zachary Margolin, Benjamin Borgo, James J. Havranek, Jeffrey Milbrandt   +4 more
openalex   +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

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

Mutations in the CRB1 gene cause Leber congenital amaurosis

, 2001
OBJECTIVES: To test the hypothesis that mutations in the CRB1 gene cause Leber congenital amaurosis (LCA) and, if so, to describe the ocular phenotype of patients with LCA who harbor CRB1 sequence variations.
Rosenow, Justin R., Heon, Elise, Stone, Edwin M., Jacobson, Samuel G., Grover, Sandeep, Sheffield, Val C., Lotery, Andrew J., Fishman, Gerald A., Levin, Alex V., Fulton, Anne B., Namperumalsamy, P., Kopp, Kelly K., Weleber, Richard G.   +12 more
core  

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