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N. Mencacci

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Open access Oct 2026

GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations.

INTRODUCTION GCH1 has been implicated in Parkinson's disease (PD), but its risks variants and associations are not well defined. OBJECTIVES Our goal was to investigate the clinical relevance and PD risk associated with the GCH1 p.Ser80Asn variant. METHODS We first identified a segregating GCH1 p.Ser80Asn variant in...

Yi-Wen Tay, A. Lee, J. Schee 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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