Associated Papers
A 3D iPSC retina model reveals non-cell-autonomous and non-neuronal mechanism of photoreceptor degeneration in a lysosomal storage disorder.
Han J et al.
Biorxiv : the Preprint Server for Biology, 2025
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Westemeyer M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.
Mizobuchi K et al.
Molecular Genetics & Genomic Medicine, 2020
Autophagic vacuolar myopathy is a common feature of CLN3 disease.
Radke J et al.
Annals of Clinical and Translational Neurology, 2018
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.
Licchetta L et al.
European Journal of Medical Genetics, 2015
Novel CLN3 mutation causing autophagic vacuolar myopathy.
Cortese A et al.
Neurology, 2014
Prenylation defects in inherited retinal diseases.
Roosing S et al.
Journal of Medical Genetics, 2014
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X et al.
Journal of Medical Genetics, 2013
Spectrum of paediatric lysosomal storage disorders in oman.
Al-Maawali AA et al.
Sultan Qaboos University Medical Journal, 2012
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.
Cotman SL et al.
Clinical Lipidology, 2012
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M et al.
Human Mutation, 2012
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
Sarpong A et al.
Clinical Genetics, 2009
Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease.
Huey J et al.
Ophthalmology Science, 0