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Author

P. Dušek

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Case report Open access Oct 2026

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

This case further supports generalized dystonia as a recognizable manifestation of TCF20‐related disorders and suggests a possible link between TCF20 dysfunction and globus pallidus involvement in dystonia pathophysiology.

M. Kılıç, P. Dušek, Ibrahim Kamaci et al. · 0 citations
Aug 2026

GCH1 genetic variation as a prognostic factor in Parkinson disease across populations

GCH1 pathogenic variants were associated with a clinically distinct phenotype characterized by earlier disease onset and slower progression of motor complications, suggesting that GCH1 genetic variants may serve as genetic biomarkers for patient stratification and prognosis in PD.

J. Shin, M. T. Periñán, J. W. Jang et al. · 0 citations

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