Associated Papers
CLN6-related continuum phenotype caused by aberrant splicing.
Invernizzi F et al.
Epilepsia Open, 2025
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Badilla-Porras R et al.
Orphanet Journal of Rare Diseases, 2022
Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.
Guelbert G et al.
Frontiers in Neurology, 2022
36034292 (PubMed )
Supplement: Table_1.XLSX › SA_C_cohort
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri NAM et al.
Scientific Reports, 2020
32523032 (PubMed )
Supplement: 41598_2020_66401_MOESM3_ESM.xlsx › Table_S2
A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report.
Sun G et al.
Bmc Medical Genetics, 2018
A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis.
Katz ML et al.
Journal of Biomedicine & Biotechnology, 2011
Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner.
Oresic K et al.
Bioscience Reports, 2009
CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.
Mole SE et al.
Experimental Cell Research, 2004
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
Sharp JD et al.
Human Mutation, 2003
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