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

Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses.

Biochimica et biophysica acta. Molecular basis of disease - 1 Sept 2020

Butz Elisabeth S, Chandrachud Uma, Mole Sara E, Cotman Susan L

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCL) are a group of disorders defined by shared clinical and pathological features, including seizures and progressive decline in vision, neurocognition, and motor functioning, as well as accumulation of autofluorescent lysosomal storage material, or 'ceroid lipofuscin'. Research has revealed thirteen distinct genetic subtypes. Precisely how the gene mutations lead to the...

Read the complete abstract on PubMed

Topics

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

Share to Membrane Proteins
Share to Mutation
Share to Neuronal Ceroid-Lipofuscinoses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Oligonucleotide Array Sequence Analysis

Source

Identifiers

PMID: 31678159
DOI: 10.1016/j.bbadis.2019.165571

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

Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses.PMID 31678159Read ↗

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

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

Bioinformatic perspectives 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 ↗

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

Towards understanding the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

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

Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.Semantic proximity Read ↗

Neuronal Ceroid Lipofuscinosis—Concepts, Classification, and Avenues for TherapySemantic proximity Read ↗

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

Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.Semantic proximity Read ↗

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