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Article

Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity.

Cerebral cortex (New York, N.Y. : 1991) - 1 Jan 2018

Putzel Gregory Garbès, Battistella Giovanni, Rumbach Anna F, Ozelius Laurie J, Sabuncu Mert R, Simonyan Kristina

Abstract excerpt

Spasmodic dysphonia (SD), or laryngeal dystonia, is an isolated task-specific dystonia of unknown causes and pathophysiology that selectively affects speech production. Using next-generation whole-exome sequencing in SD patients, we computed polygenic risk score from 1804 genetic markers based on a genome-wide association study in another form of similar task-specific focal dystonia, musician's dystonia. We...

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Identifiers

PMID: 29117296
DOI: 10.1093/cercor/bhw363
PMCID: PMC6059246

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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