Results 131 to 140 of about 7,465 (249)

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  

Differential Macular Morphology in Patients withRPE65-,CEP290-,GUCY2D-, andAIPL1-Related Leber Congenital Amaurosis [PDF]

, 2010
Sirichai Pasadhika, Gerald A. Fishman, Edwin M. Stone, Martin Lindeman, Ruth Zelkha, Irma López, Robert K. Koenekoop, Mahnaz Shahidi   +7 more
openalex   +1 more source

Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme. [PDF]

JCI Insight, 2023
Faber S, Mercey O, Junger K, Garanto A, May-Simera H, Ueffing M, Collin RW, Boldt K, Guichard P, Hamel V, Roepman R.   +10 more
europepmc   +1 more source

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families

Molecular Vision, 2019
Purpose: Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous showing progressive retinal cell death which results in vision loss.
Naeimeh Tayebi, Oyediran Akinrinade, Muhammad Imran Khan, Arash Hejazifar, Alireza Dehghani, Frans P.M. Cremers, Mohammadreza Akhlaghi   +6 more
doaj  

Case Report: Severe Expressive Language Disorder of a Child with Laber\'s Congenital Amaurosis

Journal of Rehabilitation, 2001
A 4 years old blind boy with leber's congenital amaurosis was referred for his severe expressive language problems. There was a considerable discrepancy between receptive and expressive language capabilities in favor of receptive ones.
Fariba Yadegari, Seyyed Jalal Sadrosadat
doaj  

Engineered tRNA reduces vision loss in a mouse model of Leber congenital amaurosis. [PDF]

Signal Transduct Target Ther
Shahi PK, Akyuz E, Gissot L, Al Saneh A, Pillala SK, Sinha D, Hanstad GM, Kabra M, Fernandez Zepeda MA, Gamm DM, Young SM, Ahern CA, Pattnaik BR.   +12 more
europepmc   +1 more source

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort. [PDF]

Int J Mol Sci, 2023
Zobor D, Brühwiler B, Zrenner E, Weisschuh N, Kohl S.   +4 more
europepmc   +1 more source

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis [PDF]

, 2001
S. Gerber, Isabelle Perrault, Sylvain Hanein, Fabienne Barbet, Dominique Ducroq, Imad Ghazi, Dominique Martin‐Coignard, Corinne Leowski, Tessa Homfray, Jean‐Louis Dufier, Arnold Münnich, Josseline Kaplan, Jean‐Michel Rozet   +12 more
openalex   +1 more source

Clinical Research for Inherited Retinal Disease Related Pediatric Blindness: A Preliminary Descriptive Analysis Based on ClinicalTrials.gov

Journal of Multidisciplinary Healthcare
Ahmed M Ashour,1,2 Maan H Harbi,1 Fahad S Alshehri,1,2 Saad M Wali,1 Mohammed M Aldurdunji,3 Nasser M Alorfi1 1Department of Pharmacology and Toxicology, College of Pharmacy, Umm Al-Qura University, Makkah, Saudi Arabia; 2King Salman Center for ...
Ashour AM, Harbi MH, Alshehri FS, Wali SM, Aldurdunji MM, Alorfi NM   +5 more
doaj  

Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis. [PDF]

BMC Ophthalmol, 2022
Roman AJ, Cideciyan AV, Wu V, Mascio AA, Krishnan AK, Garafalo AV, Jacobson SG.   +6 more
europepmc   +1 more source