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Article

The endophenotype and the phenotype: temporal discrimination and adult-onset dystonia.

Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2013

Hutchinson Michael, Kimmich Okka, Molloy Anna, Whelan Robert, Molloy Fiona, Lynch Tim, Healy Daniel G, Walsh Cathal, Edwards Mark J, Ozelius Laurie, Reilly Richard B, O'Riordan Seán

Abstract excerpt

The pathogenesis and the genetic basis of adult-onset primary torsion dystonia remain poorly understood. Because of markedly reduced penetrance in this disorder, a number of endophenotypes have been proposed; many of these may be epiphenomena secondary to disease manifestation. Mediational endophenotypes represent gene expression; the study of trait (endophenotypic) rather than state (phenotypic) characteristics...

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PMID: 24108447
DOI: 10.1002/mds.25676

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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