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Article

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.

Neurogenetics - 1 Mar 2014

Baker Matt, Strongosky Audrey J, Sanchez-Contreras Monica Y, Yang Shan, Ferguson Will, Calne Donald B, Calne Susan, Stoessl A Jon, Allanson Judith E, Broderick Daniel F, Hutton Michael L, Dickson Dennis W, Ross Owen A, Wszolek Zbigniew K, Rademakers Rosa

Abstract excerpt

Idiopathic basal ganglia calcification (IBGC) is characterized by bilateral calcification of the basal ganglia associated with a spectrum of neuropsychiatric and motor syndromes. In this study, we set out to determine the frequency of the recently identified IBGC gene SLC20A2 in 27 IBGC cases from the Mayo Clinic Florida Brain Bank using both Sanger sequencing and TaqMan copy number analysis to cover the complete...

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Identifiers

PMID: 24135862
DOI: 10.1007/s10048-013-0378-5
PMCID: PMC3969760

Genes

THAP1

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.

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