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

Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy.

European journal of neurology - 1 Dec 2017

Mumoli L, Labate A, Gambardella A

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 PRNP gene
Share to Gerstmann-Straussler-Scheinker Disease
Share to Mutation
Share to Myoclonic Epilepsies, Progressive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Prion Proteins

Source

Identifiers

PMID: 29148226
DOI: 10.1111/ene.13447

Genes

PRNP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy.PMID 29148226Read ↗

[Gerstmann-Sträussler disease: a familial case with common PRNP mutation and atypical features].Semantic proximity Read ↗

De novo P102L mutation in a patient with Gerstmann-Sträussler-Scheinker disease.Semantic proximity Read ↗

Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature.Semantic proximity Read ↗

Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family.Semantic proximity Read ↗

Gerstmann-Sträussler-Scheinker disease.Semantic proximity Read ↗

Progressive Myoclonus EpilepsiesSemantic proximity Read ↗

A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.Semantic proximity Read ↗

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.Semantic proximity Read ↗

Gerstmann-Straeussler-Scheinker disease with P102L prion protein gene mutation presenting with rapidly progressive clinical course.Semantic proximity Read ↗

Gerstmann-Straussler-Scheinker disease due to a novel prion protein gene mutation.Semantic proximity Read ↗

High phenotypic variability in Gerstmann-Sträussler-Scheinker disease.Semantic proximity Read ↗

A case of sporadic Creutzfeldt-Jakob disease with a Gerstmann-Sträussler-Scheinker phenotype but no alterations in the PRNP gene.Semantic proximity Read ↗

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