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

HINT1 neuropathy in Norway: clinical, genetic and functional profiling.

Orphanet journal of rare diseases - 4 Mar 2021

Amor-Barris Silvia, Høyer Helle, Brauteset Lin V, De Vriendt Els, Strand Linda, Jordanova Albena, Braathen Geir J, Peeters Kristien

Abstract excerpt

BACKGROUND: Autosomal recessive axonal neuropathy with neuromyotonia has been linked to loss of functional HINT1. The disease is particularly prevalent in Central and South-East Europe, Turkey and Russia due to the high carrier frequency of the c.110G > C (p.Arg37Pro) founder variant. RESULTS: In a cohort of 748 Norwegian patients with suspected peripheral neuropathy, we identified two seemingly unrelated...

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 Europe

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Nerve Tissue Proteins

Share to Norway

Share to Peripheral Nervous System Diseases

Share to Turkey

Source

Open in PubMed Open full text

Identifiers

PMID: 33663550
DOI: 10.1186/s13023-021-01746-z
PMCID: PMC7934415

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

HINT1 neuropathy in Norway: clinical, genetic and functional profiling.PMID 33663550Read ↗

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.Semantic proximity Read ↗

HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.Semantic proximity Read ↗

HINT1 neuropathy: Expanding the genotype and phenotype spectrum.Semantic proximity Read ↗

Structural clustering and functional profiling of NMAN-causing variants in HINT1 suggest personalized therapeutic strategiesSemantic proximity Read ↗

HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.Semantic proximity Read ↗

HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.Semantic proximity Read ↗

Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia.Semantic proximity Read ↗

A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.Semantic proximity Read ↗

Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy.Semantic proximity Read ↗

Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia.Semantic proximity Read ↗

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.Semantic proximity Read ↗

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