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

A TRAPPC6B splicing variant associates to restless legs syndrome.

Parkinsonism & related disorders - 1 Oct 2016

Aridon Paolo, De Fusco Maurizio, Winkelmann Juliane W, Zucconi Marco, Arnao Valentina, Ferini-Strambi Luigi, Casari Giorgio

Abstract excerpt

INTRODUCTION: RLS is a common movement disorders with a strong genetic component in its pathophysiology, but, up to now, no causative mutation has been reported. METHODS: We re-evaluated the previously described RLS2 family by exome sequencing. RESULTS: We identified fifteen variations in the 14q critical region. The c.485G > A transition of the TRAPPC6B gene segregates with the RLS2 haplotype, is absent in 200...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cells, Cultured
Share to Chromosomes, Human, Pair 14

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Restless Legs Syndrome

Share to Transfection

Share to Vesicular Transport Proteins

Source

Identifiers

PMID: 27569842
DOI: 10.1016/j.parkreldis.2016.08.016

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A TRAPPC6B splicing variant associates to restless legs syndrome.PMID 27569842Read ↗

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.Semantic proximity Read ↗

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.Semantic proximity Read ↗

Restless legs syndrome: an update on genetics and future perspectives.Semantic proximity Read ↗

Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes.Semantic proximity Read ↗

Novel FTA2 variants were observed in patients with restless legs syndrome via whole-exome sequencingSemantic proximity Read ↗

Large genome-wide association study identifies three novel risk variants for restless legs syndrome.Semantic proximity Read ↗

Replication of restless legs syndrome loci in three European populations.Semantic proximity Read ↗

Large-scale genome- and phenome-wide analyses reveal the genetic architecture, pathophysiology and comorbidity of restless legs syndromeSemantic proximity Read ↗

ExomeChip-based rare variant association study in restless legs syndrome.Semantic proximity Read ↗

[Advances in genetics of restless legs syndrome].Semantic proximity Read ↗

Genomic analysis identifies risk factors in restless legs syndromeSemantic proximity Read ↗

Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred.Semantic proximity Read ↗

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