Associated Papers
CLN6's luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses.
Shiro Y et al.
Biomedical Research (tokyo, Japan), 2021
A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature.
Nicolaou P et al.
Frontiers in Genetics, 2021
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf
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
The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.
Ezaki J et al.
Brain Pathology (zurich, Switzerland), 2004
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
Sharp JD et al.
Human Mutation, 2003
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.
Teixeira CA et al.
Human Mutation, 2003
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