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

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia

24 May 2019

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 Hereditary Neurological Disorders
Share to Neurological diseases and metabolism
Share to Parkinson's Disease Mechanisms and Treatments

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 31132363
DOI: 10.1016/j.expneurol.2019.112958

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgiaPMID 31132363Read ↗

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgiaSemantic proximity Read ↗

Severe Biallelic Loss-of-function Mutations in <i>Nicotinamide Mononucleotide Adenylyltransferase 2 (NMNAT2)</i> in Two Fetuses with Fetal Akinesia Deformation SequenceSemantic proximity Read ↗

Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.Semantic proximity Read ↗

Merlin isoform 2 in neurofibromatosis type 2–associated polyneuropathySemantic proximity Read ↗

Roles of KCNA2 in Neurological Diseases: from Physiology to PathologySemantic proximity Read ↗

A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'.Semantic proximity Read ↗

Unraveling Phenotypic Variability in Action Myoclonus with Renal Failure with SCARB2 Mutation in Siblings.Semantic proximity Read ↗

A sensory and motor neuropathy caused by a genetic variant of NAMPT.Semantic proximity Read ↗

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

Programmed axon degeneration gene variants in human disease.Semantic proximity Read ↗

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathySemantic proximity Read ↗

A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy.Semantic proximity Read ↗

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