Associated Papers
Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.
Thuppanattumadam Ananthasubramanian S et al.
Journal of the Neurological Sciences, 2025
High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study.
Charouf D et al.
International Journal of Molecular Sciences, 2024
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
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
Cannelli N et al.
Biochemical and Biophysical Research Communications, 2009
Molecular genetics of the NCLs -- status and perspectives.
Siintola E et al.
Biochimica Et Biophysica Acta, 2006
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
Mole SE et al.
Neurogenetics, 2005
Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
Siintola E et al.
Clinical Genetics, 2005
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
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