Associated Papers
CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses.
Sharkia R et al.
Genes, 2022
Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia.
Alkhars FZ et al.
Neurosciences (riyadh, Saudi Arabia), 2020
The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.
Parvin S et al.
Neuromolecular Medicine, 2019
Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.
Gao Z et al.
Bmc Medical Genetics, 2018
CLN8 disease caused by large genomic deletions.
Beesley C et al.
Molecular Genetics & Genomic Medicine, 2017
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.
Sanchez RL et al.
American Journal of Ophthalmology Case Reports, 2016
29503925 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.
Allen NM et al.
Clinical Genetics, 2012
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