Associated Papers
TRAM-LAG1-CLN8 family proteins are acyltransferases regulating phospholipid composition.
Sheokand PK et al.
Science Advances, 2025
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY et al.
Jama Network Open, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India.
Gowda VK et al.
Journal of Pediatric Genetics, 2021
CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.
Badura-Stronka M et al.
Genes, 2021
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
Gardner E et al.
Frontiers in Neurology, 2021
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis.
di Ronza A et al.
Nature Cell Biology, 2018
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
Sahin Y et al.
Acta Neurologica Belgica, 2017
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.
Sanchez RL et al.
American Journal of Ophthalmology Case Reports, 2016
Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
Katata Y et al.
Brain & Development, 2016
Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
Mole SE et al.
Biochimica Et Biophysica Acta, 2015
Novel rare missense variations and risk of autism spectrum disorder: whole-exome sequencing in two families with affected siblings and a two-stage follow-up study in a Japanese population.
Egawa J et al.
Plos One, 2015
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.
Kmoch S et al.
Biochimica Et Biophysica Acta, 2013
Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.
Warrier V et al.
Biochimica Et Biophysica Acta, 2013
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M et al.
Human Mutation, 2012
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
Reinhardt K et al.
Clinical Genetics, 2010
Analysis of NCL Proteins from an Evolutionary Standpoint.
Muzaffar NE et al.
Current Genomics, 2008
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
Mole SE et al.
Neurogenetics, 2005
A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis.
Katz ML et al.
Biochemical and Biophysical Research Communications, 2005
Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.
Lonka L et al.
Journal of Neuroscience Research, 2004
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
Ranta S et al.
Human Mutation, 2004
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
Mole SE
Brain Pathology (zurich, Switzerland), 2004