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 out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E.

Neurogenetics - 1 Feb 2005

Andrigo Cinzia, Boito Chiara, Prandini Paola, Mostacciuolo Maria Luisa, Siciliano Gabriele, Angelini Corrado, Pegoraro Elena

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Axons
Share to Base Sequence
Share to Charcot-Marie-Tooth Disease
Share to DNA Primers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Neurofilament Proteins

Share to Reference Values

Source

Identifiers

PMID: 15654615
DOI: 10.1007/s10048-004-0202-3

Genes

NEFL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E.PMID 15654615Read ↗

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

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

Mutations in the neurofilament light chain gene (NEFL)--a study of a possible pathogenous effect.Semantic proximity Read ↗

A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.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 ↗

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.Semantic proximity Read ↗

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

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

Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.Semantic proximity Read ↗

Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.Semantic proximity Read ↗

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

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