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Author

Christine Klein

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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

X-linked dystonia parkinsonism as a cause of isolated lingual dystonia (ILD).

Two Filipino males, aged 43 and 48, who developed ILD are described, found to carry the X-linked dystonia parkinsonism (XDP)-causing variant highlighting a novel presentation of ILD linked to XDP.

Lowrence Precious C. Dichoso, D. Dakay, A. Westenberger et al. · 0 citations

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