Author

C. Haaxma

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Open access Sep 2026

Drug repurposing of glycerol phenylbutyrate for children with SLC6A1-related neurodevelopmental disorder: A prospective open-label case series.

Glycerol phenylbutyrate was associated with improvements in individualized outcomes in children with SLC6A1-NDD, however, personalized goal attainment measures are susceptible to expectation and observer bias in open-label study designs.

E. V. van Walree, D. Dekker, J. Sprengers et al. · Molecular Genetics and Metab... · 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