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juvenile neuronal ceroid lipofuscinosis
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
PPT1
CLN3
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
regulation of lysosomal lumen pH
presynapse
vacuole organization
learning
endocytosis
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Curated Studies
Most Correlated Studies
Fibroblasts from juvenile neuronal ceroid lipofuscinosis patients treated with trehalose
Lymphocyte gene expression in patients with rapid, average, and slow progressing CLN3 disease
Mouse Phenotypes - Myopathy
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Juvenile neuronal ceroid lipofuscinosis and education.
Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis.
Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (batten dise…
A Novel c.1135_1138delCTGT Mutation in CLN3 Leads to Juvenile Neuronal Ceroid Lipofuscinosis.
Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease).
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Clinical Trials
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Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis
Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) i…
Safety, Tolerability, and Efficacy of PLX-200 in Patients With CLN3
Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae
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