Associated Papers
Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions.
Dwojak E et al.
Stem Cell Research, 2024
Glycerophosphoinositol is Elevated in Blood Samples From CLN3 Δex7-8 pigs, Cln3 Δex7-8 Mice, and CLN3-Affected Individuals.
Brudvig JJ et al.
Biomarker Insights, 2022
36212622 (PubMed )
Supplement: sj-xlsx-3-bmi-10.1177_11772719221107765.xlsx › Patient-Level_CSF_Data
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
Smirnov VM et al.
Jama Ophthalmology, 2021
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
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