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

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Neurogenetics - 1 Sept 2005

Mole Sara E, Williams Ruth E, Goebel Hans H

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are a group of severe neurodegenerative diseases with onset usually in childhood and characterised by the intracellular accumulation of autofluorescent storage material. Within the last decade, mutations that cause NCL have been found in six human genes (...

Read the complete abstract on PubMed

Topics

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

Share to Aminopeptidases
Share to Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
Share to Endopeptidases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lysosomal Membrane Proteins

Share to Neuronal Ceroid-Lipofuscinoses

Share to Serine Proteases

Share to Thiolester Hydrolases

Share to Tripeptidyl-Peptidase 1

Source

Identifiers

PMID: 15965709
DOI: 10.1007/s10048-005-0218-3

Genes

NCL
CLN3
CLN5
CLN6
CLN8
CTSD
PPT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15965709-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.PMID 15965709Read ↗

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

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

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.Semantic proximity Read ↗

The genetic spectrum of human neuronal ceroid-lipofuscinoses.Semantic proximity Read ↗

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

Towards understanding the 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 neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis.Semantic proximity Read ↗

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.Semantic proximity Read ↗

Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.Semantic proximity Read ↗

Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.Semantic proximity Read ↗

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