Associated Papers
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.
Smirnov VM et al.
Investigative Ophthalmology & Visual Science, 2022
Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.
Marouf A et al.
Human Genetics, 2022
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Vona B et al.
Human Genetics, 2021
Unconventional secretory pathway activation restores hair cell mechanotransduction in an USH3A model.
Gopal SR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
García-García G et al.
Molecular Vision, 2012
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
Khan MI et al.
Ophthalmology, 2011
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
Isosomppi J et al.
Molecular Vision, 2009
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Herrera W et al.
Investigative Ophthalmology & Visual Science, 2008
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.
Fields RR et al.
American Journal of Human Genetics, 2002
Select a paper to view details