Results 211 to 220 of about 12,927 (274)

Correction to: Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors. [PDF]

Hum Mol Genet
europepmc   +1 more source

Elevated presence of dendritic cells in retina persist late into life of a mouse model for Type 2 Leber congenital amaurosis

, 2016
Peter H. Tang, Mark Pierson, Neal D. Heuss, Katarina Wrzos, Dale S. Gregerson   +4 more
openalex   +1 more source

Long term protection of cone photoreceptors in a mouse model of Leber congenital amaurosis-1 by deletion of S-opsin

, 2017
Nduka Enemchukwu, Hui Xu, Mackenzie J. Parker, Lynn Zhu, Yingbin Fu   +4 more
openalex   +1 more source

CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10

, 2017
Guo-Xiang Ruan, Elizabeth Barry, Dan Yu, Michael Lukason, Seng H. Cheng, Abraham Scaria   +5 more
openalex   +1 more source

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Leber Congenital Amaurosis.

Advances in Experimental Medicine and Biology, 2018
Leber congenital amaurosis (LCA) is a part of the spectrum of early-onset retinal dystrophy (EORD). It usually presents in the first few years of life, most often before the age of 1 year. The prevalence is about 1:80,000. Also known as congenital retinitis pigmentosa (RP), patients have wandering nystagmus, with reduced vision from birth.
Stephen H Tsang, Tarun Sharma
semanticscholar   +4 more sources

Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10

Nature Medicine, 2019
Morgan L Maeder, Christopher J Wilson, Luis Alberto Barrera   +2 more
exaly   +2 more sources

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

Nature Medicine, 2018
Artur V Cideciyan, Samuel G Jacobson, Allen C Ho   +2 more
exaly   +2 more sources

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes

Progress in Retinal and Eye Research
M. Georgiou, A. Robson, K. Fujinami, T. A. D. Guimaraes, Yu Fujinami-Yokokawa, M. Varela, N. Pontikos, A. Kalitzeos, O. Mahroo, A. Webster, M. Michaelides   +10 more
exaly   +2 more sources

Leber Congenital Amaurosis

Molecular Genetics and Metabolism, 1999
Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents.
I, Perrault, J M, Rozet, S, Gerber, I, Ghazi, C, Leowski, D, Ducroq, E, Souied, J L, Dufier, A, Munnich, J, Kaplan   +9 more
openaire   +2 more sources

Leber's Congenital Amaurosis

American Journal of Ophthalmology, 1977
An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two children. Light microscopic examination of eyes obtained from one child, a 16-month-old Japanese girl, revealed subretinal deposits corresponding to the white spots and lines in the fundus deposits.
K, Mizuno, Y, Takei, M L, Sears, W S, Peterson, R E, Carr, L M, Jampol   +5 more
openaire   +2 more sources