Associated Papers
Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.
Santos BV et al.
Neuropediatrics, 2024
Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease.
O'Neal M et al.
Pediatric Neurology, 2024
PIGN c.776T>C (p.Phe259Ser) variant present in trans with a pathogenic variant for PIGN-congenital disorder of glycosylation: Bella-Noah syndrome.
Neves Rebello Alves L et al.
Heliyon, 2024
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
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
Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.
Guelbert G et al.
Frontiers in Neurology, 2022
Myoclonus-Ataxia Syndromes: A Diagnostic Approach.
Rossi M et al.
Movement Disorders Clinical Practice, 2021
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
Gardner E et al.
Frontiers in Neurology, 2021
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Nogueira C et al.
Mitochondrion, 2019
Clinical implementation of gene panel testing for lysosomal storage diseases.
Gheldof A et al.
Molecular Genetics & Genomic Medicine, 2019
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF et al.
Brain : a Journal of Neurology, 2019
Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
Mole SE et al.
Biochimica Et Biophysica Acta, 2015
Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.
Warrier V et al.
Biochimica Et Biophysica Acta, 2013
CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.
Bouhouche A et al.
Indian Journal of Pediatrics, 2013
Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.
Kurze AK et al.
Human Mutation, 2010
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
Cannelli N et al.
Biochemical and Biophysical Research Communications, 2009
Analysis of NCL Proteins from an Evolutionary Standpoint.
Muzaffar NE et al.
Current Genomics, 2008
Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology.
Teixeira CA 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
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
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