Results 121 to 130 of about 7,465 (249)

Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due toCEP290orNPHP5Mutations: Predictions From Artificial Intelligence [PDF]

, 2019
Alexander Sumaroka, Alexandra V. Garafalo, Evelyn P. Semenov, Rebecca Sheplock, Arun K. Krishnan, Alejandro J. Román, Samuel G. Jacobson, Artur V. Cideciyan   +7 more
openalex   +1 more source

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

, 2006
Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together account for approximately 45% of LCA cases.
den Hollander, AI;Koenekoop, RK;Yzer, S;Lopez, I;Arends, ML;Voesenek, KE;Zonneveld, MN;Strom, TM;Meitinger, T;Brunner, HG;Hoyng, CB;van den Born, LI;Rohrschneider, K;Cremers, FP
core   +1 more source

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS. [PDF]

J Appl Genet, 2023
Skorczyk-Werner A, Sowińska-Seidler A, Wawrocka A, Walczak-Sztulpa J, Krawczyński MR.   +4 more
europepmc   +1 more source

Intravitreal Sepofarsen for Leber Congenital Amaurosis Type 10 (LCA10)

, 2020
Stephen R. Russell, Arlene V. Drack, Artur V. Cideciyan, Samuel G. Jacobson, Bart P. Leroy, Caroline Van Cauwenbergh, Allen C. Ho, Alina V. Dumitrescu, Ian C. Han, Mitchell Martin, Wanda L. Pfeifer, Elliott H. Sohn, Jean Walshire, Alexandra V. Garafalo, Arun K. Krishnan, Christian A. Powers, Alexander Sumaroka, Alejandro J. Roman, Eva Vanhonsebrouck, Eltanara Jones, Fanny Nerinckx, Julie De Zaeytijd, Rob W. J. Collin, Carel Hoyng, Peter Adamson, Michael E. Cheetham, Michael R. Schwartz, Wilhelmina den Hollander, Friedrich Asmus, Gerard Platenburg, David Rodman, Aniz Girach   +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, Fleisher RC, Alexandrov AI, Horovitz A.   +3 more
europepmc   +1 more source

A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report

, 2019
Ahmad Reza Salehi Chaleshtori, Masoud Garshasbi, Ali Salehi   +2 more
openalex   +1 more source

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

, 2005
Ronald Roepman, Stef J.F. Letteboer, Heleen H. Arts, Sylvia E. C. van Beersum, Xinrong Lu, Elmar Krieger, Paulo A. Ferreira, Frans P.M. Cremers   +7 more
openalex   +2 more sources

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, Choi S, Modi YS, Brodie SE, Davis JL, Gregori NZ, Lam BL.   +6 more
europepmc   +1 more source

Cone-Rod Dystrophy Caused by a Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis

, 2014
Cecilia Jakobsson, Ihab Saad Othman, F Munier, Daniel F. Schorderet, Hana Abouzeid   +4 more
openalex   +2 more sources

Psychometric Validation of the ViSIO-PRO and ViSIO-ObsRO in Retinitis Pigmentosa and Leber Congenital Amaurosis. [PDF]

Ophthalmol Ther, 2023
Fischer MD, Patalano F, Naujoks C, Banhazi J, Bouchet C, O'Brien P, Kay C, Green J, Durham T, Bradley H, Williamson N, Barclay M, Sims J, Audo I.   +13 more
europepmc   +1 more source