Associated Papers
Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions.
Dwojak E et al.
Stem Cell Research, 2024
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf
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
Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy.
Wright GA et al.
Ophthalmology. Retina, 2020
Considerations in multi-gene panel testing in pediatric ophthalmology.
Turriff AE et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2019
Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.
Sleat DE et al.
Journal of Proteome Research, 2017
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
Lojewski X et al.
Human Molecular Genetics, 2014
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.
Kitzmüller C et al.
Human Molecular Genetics, 2008
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