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Whole exome sequencing and clinical investigation of young onset dystonia: What can we learn?

Parkinsonism & related disorders - 1 Oct 2023

Ahn Jong Hyeon, Kim Ah Reum, Park Woong-Yang, Cho Jin Whan, Park Jongkyu, Youn Jinyoung

Abstract excerpt

BACKGROUND: Dystonia is a heterogeneous movement disorder involving various genetic backgrounds, and the implication of whole exome sequencing (WES) has yet to be clearly elucidated. In this study, we performed WES in Korean patients with young-onset dystonia. METHODS: We recruited patients with young-onset dystonia based on the new MDS dystonia classification at Samsung Medical Centre from 2015 to 2019. We...

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Identifiers

PMID: 37607452
DOI: 10.1016/j.parkreldis.2023.105814

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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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