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

Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation.

Journal of the neurological sciences - 15 May 2018

Stamelou Maria, Petrucci Simona, Ginevrino Monia, Pons Roser, Papagiannakis Nick, Stefanis Leonidas, Valente Enza Maria

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 Adolescent
Share to Apoptosis Regulatory Proteins
Share to DNA-Binding Proteins
Share to Dystonic Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Frameshift Mutation

Share to Nuclear Proteins

Share to Phenotype

Source

Identifiers

PMID: 29627013
DOI: 10.1016/j.jns.2018.03.026

Genes

THAP1

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

Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation.PMID 29627013Read ↗

High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.Semantic proximity Read ↗

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.Semantic proximity Read ↗

Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.Semantic proximity Read ↗

Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncleSemantic proximity Read ↗

Late adulthood onset DYT-THAP1 secondary to a novel splice site mutation-A report from India.Semantic proximity Read ↗

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variantSemantic proximity Read ↗

Intrafamilial diversity of phenotype associated with app duplication.Semantic proximity Read ↗

Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene.Semantic proximity Read ↗

First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease.Semantic proximity Read ↗

Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.Semantic proximity Read ↗

THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.Semantic proximity Read ↗

The b(c) allele of TYRP1 is causative for the recessive brown (liver) colour in German Shepherd dogs.Semantic proximity Read ↗

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