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

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.

Biochimica et biophysica acta - 1 Nov 2013

Warrier Varun, Vieira Mariana, Mole Sara E

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that mainly affect children and are grouped together by similar clinical features and the accumulation of autofluorescent storage material. More than a dozen genes containing nearly 400 mutations underlying human NCLs have been identified. Most of the mutations in these genes are associated with a typical disease...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Predisposition to Disease
Share to Lysosomal Storage Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Mitochondrial Function and Pathology

Share to Mutation

Share to Neuronal Ceroid-Lipofuscinoses

Share to Phenotype

Share to RNA regulation and disease

Source

Identifiers

PMID: 23542453
DOI: 10.1016/j.bbadis.2013.03.017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.PMID 23542453Read ↗

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

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

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

Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease).Semantic proximity Read ↗

Genetics of the neuronal ceroid lipofuscinoses (Batten disease)Semantic proximity Read ↗

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

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

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

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

Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

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

Batten disease: clinical aspects, molecular mechanisms, translational science, and future directions.Semantic proximity Read ↗

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