Associated Papers
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish.
Toms M et al.
Experimental Eye Research, 2019
A novel Kir7.1 splice variant expressed in various mouse tissues shares organisational and functional properties with human Leber amaurosis-causing mutations of this K+ channel.
Vera E et al.
Biochemical and Biophysical Research Communications, 2019
Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness.
Shahi PK et al.
American Journal of Human Genetics, 2019
LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.
Perez-Roustit S et al.
Retinal Cases & Brief Reports, 0
Select a paper to view details