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Author

Christine Klein

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Open access Sep 2026

α-Synuclein Seeding Discriminates Between LRRK2 G2019S Variant Carriers with and Without Parkinson's Disease.

BACKGROUND Reliable biomarkers for Parkinson's disease (PD) pathology detection are essential for research. α-Synuclein (aSyn) seed amplification assay (SAA) is a validated biomarker for misfolded aSyn. OBJECTIVE The aim was to assess the association between aSyn SAA and LRRK2-related PD (LRRK2-PD) and its link to mi...

Theresa Lüth, C. Gabbert, T. Kleinz et al. · 0 citations
Open access Sep 2026

Unified long-read panel for Parkinson’s and repeat expansion disorders

Adaptive sampling is a versatile genetic diagnostic tool in neurodegenerative disorders, while enabling cost-effective multiplexing, and further validation and improvements in bioinformatic analysis are needed.

A. Fienemann, J. C. Prietzsche, Joshua Laβ et al. · 0 citations
Open access Jun 2026

Large-scale functional annotation establishes a reference framework for human LRRK2 variants

Functional effect sizes correlated with pathway activation in patient-derived immune cells, altogether providing a framework for ACMG-based variant interpretation in which kinase activation can support PS3 functional evidence for reclassification of variants.

Anthea Cheung, Neringa Pratuseviciute, Kirsten Black et al. · 0 citations

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