Associated Papers
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses.
Sharkia R et al.
Genes, 2022
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
Sahin Y et al.
Acta Neurologica Belgica, 2017
CLN8 disease caused by large genomic deletions.
Beesley C et al.
Molecular Genetics & Genomic Medicine, 2017
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.
Kmoch S et al.
Biochimica Et Biophysica Acta, 2013
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
Reinhardt K et al.
Clinical Genetics, 2010
A novel mutation of the CLN8 gene: is there a Mediterranean phenotype?
Zelnik N et al.
Pediatric Neurology, 2007
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