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

NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors.

European neurology - 1 Jan 2023

Petrucci Antonio, Lispi Ludovico, Garibaldi Matteo, Frezza Erika, Moro Francesca, Massa Roberto, Santorelli Filippo Maria

Abstract excerpt

INTRODUCTION: Mutations in the neurofilament polypeptide light chain (NEFL) gene account for <1% of all forms of Charcot-Marie-Tooth (CMT) diseases and present with different phenotypes, including demyelinating, axonal and intermediate neuropathies, and with diverse pattern of transmission, with dominant and recessive inheritance being described. METHODS: Here, we present clinical and molecular data in two new...

Read the complete abstract on PubMed

Topics

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

Share to Charcot-Marie-Tooth Disease
Share to Muscle, Skeletal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Phenotype

Share to Young Adult

Source

Identifiers

PMID: 36809754
DOI: 10.1159/000529706

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors.PMID 36809754Read ↗

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Clinical and genetic characterization of NEFL-related neuropathy in Taiwan.Semantic proximity Read ↗

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.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 ↗

Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Charcot–Marie–Tooth diseases: an update and some new proposals for the classificationSemantic proximity Read ↗

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

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

Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.Semantic proximity Read ↗

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.Semantic proximity Read ↗

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

NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.Semantic proximity Read ↗

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