Associated Papers
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.
Ahmad R et al.
Neurogenetics, 2025
Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease.
O'Neal M et al.
Pediatric Neurology, 2024
Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.
Ilyas M et al.
Epilepsy Research, 2024
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Rus CM et al.
Orphanet Journal of Rare Diseases, 2022
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.
Guerreiro R et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013
High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons.
Thelen M et al.
Journal of Neuroscience Research, 2012
Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis.
Thelen M et al.
Plos One, 2012
Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.
Kurze AK et al.
Human Mutation, 2010
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.
Kyttälä A 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
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
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.
Teixeira CA et al.
Human Mutation, 2003
The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.
Wheeler RB et al.
American Journal of Human Genetics, 2002