about
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndromeBatten's disease: clues to neuronal protein catabolism in lysosomesDefective lysosomal arginine transport in juvenile Batten diseaseMembrane topology of CLN3, the protein underlying Batten diseaseMutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorderBiased exon/intron distribution of cryptic and de novo 3' splice sitesLoss of Cln3 function in the social amoeba Dictyostelium discoideum causes pleiotropic effects that are rescued by human CLN3Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous systemPartial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene.Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data.Novel CLN3 mutation causing autophagic vacuolar myopathy.The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.The genetic spectrum of human neuronal ceroid-lipofuscinoses.Evidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL).Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease.Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 diseaseNitric oxide signaling is disrupted in the yeast model for Batten disease.Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studiesA yeast model for the study of Batten diseaseMolecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse modelsJuvenile neuronal ceroid lipofuscinosis (JNCL) and the eye.Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.NCLs and ER: A stressful relationship.Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways.Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells.Diminished MTORC1-Dependent JNK Activation Underlies the Neurodevelopmental Defects Associated with Lysosomal DysfunctionThe fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype.Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis.Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.Timing of cognitive decline in CLN3 disease.Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil.
P2860
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P2860
description
1997 nî lūn-bûn
@nan
1997 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Spectrum of mutations in the Batten disease gene, CLN3
@ast
Spectrum of mutations in the Batten disease gene, CLN3
@en
Spectrum of mutations in the Batten disease gene, CLN3
@nl
type
label
Spectrum of mutations in the Batten disease gene, CLN3
@ast
Spectrum of mutations in the Batten disease gene, CLN3
@en
Spectrum of mutations in the Batten disease gene, CLN3
@nl
prefLabel
Spectrum of mutations in the Batten disease gene, CLN3
@ast
Spectrum of mutations in the Batten disease gene, CLN3
@en
Spectrum of mutations in the Batten disease gene, CLN3
@nl
P2093
P2860
P356
P1476
Spectrum of mutations in the Batten disease gene, CLN3
@en
P2093
A M O'Rawe
H M Mitchison
J W Anderson
M H Breuning
P B Munroe
P E Taschner
R M Boustany
R M Gardiner
T J Lerner
P2860
P304
P356
10.1086/514846
P407
P50
P577
1997-08-01T00:00:00Z