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Article

Chorein detection for the diagnosis of chorea-acanthocytosis.

Annals of neurology - 1 Aug 2004

Dobson-Stone Carol, Velayos-Baeza Antonio, Filippone Lea A, Westbury Sarah, Storch Alexander, Erdmann Torsten, Wroe Stephen J, Leenders Klaus L, Lang Anthony E, Dotti Maria Teresa, Federico Antonio, Mohiddin Saidi A, Fananapazir Lameh, Daniels Geoff, Danek Adrian, Monaco Anthony P

Abstract excerpt

Chorea-acanthocytosis (ChAc) is a severe, neurodegenerative disorder that shares clinical features with Huntington's disease and McLeod syndrome. It is caused by mutations in VPS13A, which encodes a large protein called chorein. Using antichorein antisera, we found expression of chorein in all hu...

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PMID: 15293285
DOI: 10.1002/ana.20200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15293285-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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