Associated Papers
CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses.
Sharkia R et al.
Genes, 2022
Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8.
Salpeter EM et al.
Annals of Translational Medicine, 2021
CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.
Badura-Stronka M et al.
Genes, 2021
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Iancu IF et al.
Npj Genomic Medicine, 2021
33623043 (PubMed )
Supplement: 41525_2021_182_MOESM1_ESM.pdf
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
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