Associated Papers
The neuronal ceroid lipofuscinosis-related protein CLN8 regulates endo-lysosomal dynamics and dendritic morphology.
Pesaola F et al.
Biology of the Cell, 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
Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype.
Pesaola F et al.
Revista De Neurologia, 2019
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
Sahin Y et al.
Acta Neurologica Belgica, 2017
CLN8 disease caused by large genomic deletions.
Beesley C et al.
Molecular Genetics & Genomic Medicine, 2017
Neuronal ceroid lipofuscinoses.
Nita DA et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 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
Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.
Inoue E 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
Neuronal ceroid lipofuscinoses.
Chabrol B et al.
Handbook of Clinical Neurology, 2013
The neuronal ceroid-lipofuscinoses.
Bennett MJ et al.
Developmental Disabilities Research Reviews, 2013
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
Pérez-Poyato M S et al.
Revista De Neurologia, 2012
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
Comparison of solution-based exome capture methods for next generation sequencing.
Sulonen AM et al.
Genome Biology, 2011
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
Reinhardt K et al.
Clinical Genetics, 2010
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
Vantaggiato C et al.
Human Mutation, 2009
Neuronal ceroid lipofuscinoses.
Jalanko A et al.
Biochimica Et Biophysica Acta, 2009
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
Moore SJ et al.
Clinical Genetics, 2008
Analysis of NCL Proteins from an Evolutionary Standpoint.
Muzaffar NE et al.
Current Genomics, 2008
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.
Kitzmüller C et al.
Human Molecular Genetics, 2008
Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies.
Getty AL et al.
Expert Opinion on Medical Diagnostics, 2007
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.
Striano P et al.
Epilepsy & Behavior : E&b, 2007
Molecular genetics of the NCLs -- status and perspectives.
Siintola E et al.
Biochimica Et Biophysica Acta, 2006
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.
Cannelli N et al.
Neurogenetics, 2006
Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study.
Hermansson M et al.
Journal of Neurochemistry, 2005
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
Current state of clinical and morphological features in human NCL.
Goebel HH et al.
Brain Pathology (zurich, Switzerland), 2004
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
Mole SE
Brain Pathology (zurich, Switzerland), 2004
The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.
Ezaki J et al.
Brain Pathology (zurich, Switzerland), 2004
Human homologues of LAG1 reconstitute Acyl-CoA-dependent ceramide synthesis in yeast.
Guillas I et al.
The Journal of Biological Chemistry, 2003
Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.
Teixeira C et al.
Journal of Neurology, 2003
The neuronal ceroid-lipofuscinoses.
Haltia M
Journal of Neuropathology and Experimental Neurology, 2003
TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?
Winter E et al.
Trends in Biochemical Sciences, 2002
Clinical features and molecular genetic basis of the neuronal ceroid lipofuscinoses.
Gardiner RM
Advances in Neurology, 2002
Pheno/genotypic correlations of neuronal ceroid lipofuscinoses.
Wisniewski KE et al.
Neurology, 2001
New mutations in the neuronal ceroid lipofuscinosis genes.
Mole SE et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2001
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.
Lonka L et al.
Human Molecular Genetics, 2000
The molecular genetic basis of the neuronal ceroid lipofuscinoses.
Gardiner RM
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2000
Northern epilepsy, a new member of the NCL family.
Ranta S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2000
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
Ranta S et al.
Nature Genetics, 1999