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

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

Annals of neurology - 1 Dec 2009

Yum Sabrina W, Zhang Junxian, Mo Katie, Li Jian, Scherer Steven S

Abstract excerpt

OBJECTIVE: To report the first cases of a homozygous recessive mutation in NEFL, the gene that encodes the light subunit of neurofilaments. METHODS: Clinical and electrophysiologic data were evaluated, and a sural nerve biopsy from one affected child was examined by immunohistochemistry and elect...

Read the complete abstract on PubMed

Topics

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

Share to Axons
Share to Family Health
Share to Glutamic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microscopy, Electron, Transmission

Share to Neural Conduction

Share to Neurofilament Proteins

Share to Peripheral Nervous System Diseases

Share to Sural Nerve

Source

Open in PubMed Open full text

Identifiers

PMID: 20039262
DOI: 10.1002/ana.21728
PMCID: PMC4439312

Genes

NEFL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20039262-2026-09-02.2. 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

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.PMID 20039262Read ↗

Novel neurofilament light ( <i>Nefl</i> ) E397K mouse models of Charcot-Marie-Tooth type 2E (CMT2E) present early and chronic axonal neuropathySemantic proximity Read ↗

Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.Semantic proximity Read ↗

A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L.Semantic proximity Read ↗

A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.Semantic proximity Read ↗

Novel neurofilament light (Nefl) E397K mouse models of Charcot-Marie-tooth type 2E (CMT2E) present early and chronic axonal neuropathy.Semantic proximity Read ↗

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Functions of intermediate filaments in neuronal development and diseaseSemantic proximity Read ↗

N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy.Semantic proximity Read ↗

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.Semantic proximity Read ↗

Effect of an R69C Mutation in the Myelin Protein Zero Gene on Myelination and Ion Channel SubtypesSemantic proximity Read ↗

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.Semantic proximity Read ↗

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