Author

G. Astuti

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Open access Sep 2026

Excessive activation of the RAS/MAPK pathway triggers adult-onset motor axonal degeneration

Summary Axonal and synaptic degeneration are key hallmarks of neurodegenerative diseases, but the molecular mechanisms remain incompletely understood. Here, we performed an unbiased forward genetic mosaic screen in Drosophila to identify genes required for maintenance of adult motor axons and neuromuscular junctions (N...

Marije Been, Erwan Lambert, Ana Serna et al. · iScience · 0 citations

Open access Jul 2026

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

Downstream regulatory variants are a substantial cause of NKX2-1-RDs and diagnostic strategies should include this regulatory region and systematic structural variant detection, particularly when coding variants have been excluded.

Robin Wijngaard, Lucy Dougherty-de Miguel, G. Demidov et al. · Movement Disorders · 0 citations