Author

Roderick P. P. W. M. Maas

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Open access Sep 2026

Convergent validity, responsiveness, and meaningful within-subject change of the PROM-Ataxia in spinocerebellar ataxias

The clinimetric properties of the Patient-Reported Outcome Measure of Ataxia (PROM-Ataxia) have only been partially explored. This study aimed to investigate its convergent validity, responsiveness, and minimal clinically important difference (MCID), as well as its discriminative ability at the earliest disease stages...

K. Leeuwenberg, T. V. van Prooije, C. Reniers et al. · Journal of Neurology · 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