Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular genetics of the neuronal ceroid lipofuscinoses.

Epilepsia - 1 Jan 1999

Mole S, Gardiner M

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterised by the accumulation of autofluorescent storage material in neurons and other cell types. The clinical features include visual impairment, progressive myoclonic epilepsy, and cognitive decline reflecting progressive neurodegeneration. The NCLs are subdivided into several subtypes according to age of onset,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age Factors
Share to Child, Preschool
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Incidence

Share to Molecular Biology

Share to Neuronal Ceroid-Lipofuscinoses

Share to Tripeptidyl-Peptidase 1

Source

Identifiers

PMID: 10446748
DOI: 10.1111/j.1528-1157.1999.tb00896.x

Genes

CLN3
CLN5
CLN6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular genetics of the neuronal ceroid lipofuscinoses.PMID 10446748Read ↗

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses: classification and diagnosis.Semantic proximity Read ↗

Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

The neuronal ceroid-lipofuscinoses.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.Semantic proximity Read ↗

Molecular genetics of the NCLs -- status and perspectives.Semantic proximity Read ↗

The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid LipofuscinosesSemantic proximity Read ↗

Infantile neuronal ceroid lipofuscinosis: no longer just a 'Finnish' disease.Semantic proximity Read ↗

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

The Neuronal Ceroid‐Lipofuscinoses. Recent AdvancesSemantic proximity Read ↗

The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.