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D. K. Puthanveedu

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Open access Oct 2026

Genotype-Phenotype Correlations in THAP1-Associated Dystonia: A Multicentric Observational Study.

BACKGROUND DYT-THAP1 is a recognized cause of early-onset isolated dystonia. However, available data are largely derived from European cohorts, limiting understanding of genetic diversity, phenotype variability, and treatment response in underrepresented populations. OBJECTIVES To characterize the clinical spectrum,...

Arti Saini, Kamalesh Tayade, Divya M. Radhakrishnan et al. · 0 citations

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