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

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.

Neurogenetics - 1 Jan 2015

Sinkiewicz-Darol Elena, Lacerda Andressa Ferreira, Kostera-Pruszczyk Anna, Potulska-Chromik Anna, Sokołowska Beata, Kabzińska Dagmara, Brunetti Craig R, Hausmanowa-Petrusewicz Irena, Kochański Andrzej

Abstract excerpt

Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) represent the most common heritable neuromuscular disorders. Molecular diagnostics of CMT1A/HNPP diseases confirm clinical diagnosis, but their value is limited to the clinical course and prognosis. However, no biomarkers of CMT1A/HNPP have been identified. We decided to explore if the LITAF/SIMPLE gene...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Arthrogryposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Charcot-Marie-Tooth Disease

Share to Chlorocebus aethiops

Share to Hereditary Sensory and Motor Neuropathy

Share to Mitochondria

Share to Myelin Proteins

Share to Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 25342198
DOI: 10.1007/s10048-014-0426-9
PMCID: PMC4284369

Genes

LITAF
PMP22

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.PMID 25342198Read ↗

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.Semantic proximity Read ↗

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.Semantic proximity Read ↗

A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.Semantic proximity Read ↗

Characterisation of LITAF, a protein associated with Charcot-Marie-Tooth disease type 1CSemantic proximity Read ↗

Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.Semantic proximity Read ↗

Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.Semantic proximity Read ↗

Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.Semantic proximity Read ↗

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.Semantic proximity Read ↗

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.Semantic proximity Read ↗

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1CSemantic proximity Read ↗

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