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

Heterozygous YY1 mutation - A mimicker of SGCE-myoclonus-dystonia.

Parkinsonism & related disorders - 1 Dec 2023

Chawla Tanushree, Kumar Natasha K, Goyal Vinay

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 Myoclonus
Share to Dystonic Disorders
Share to Heterozygote
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Sarcoglycans

Share to YY1 Transcription Factor

Source

Identifiers

PMID: 37690905
DOI: 10.1016/j.parkreldis.2023.105846

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterozygous YY1 mutation - A mimicker of SGCE-myoclonus-dystonia.PMID 37690905Read ↗

The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list.Semantic proximity Read ↗

Myoclonus-dystonia (DYT11) with novel SGCE mutation misdiagnosed as a primary psychiatric disorder.Semantic proximity Read ↗

Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.Semantic proximity Read ↗

SGCE Myoclonus-Dystonia: An Inherited Movement Disorder.Semantic proximity Read ↗

Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.Semantic proximity Read ↗

A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome.Semantic proximity Read ↗

Clinical features and genetic analysis of SGCE myoclonus-dystonia: A case report.Semantic proximity Read ↗

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).Semantic proximity Read ↗

Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity.Semantic proximity Read ↗

A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability.Semantic proximity Read ↗

Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia.Semantic proximity Read ↗

Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.Semantic proximity Read ↗

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