Understanding the functional consequences of mutations in the Helsmoortel-Van der Aa and fragile X syndromes
Source
Antwerp, University of Antwerp, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, Department of Biomedical Sciences,416 p.
Varicella-zoster virus recapitulates its immune evasive behaviour in matured hiPSC-derived neurospheroids
Source
Frontiers in immunology - ISSN 1664-3224-15 (2024) p. 1-19
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients
Source
Scientific reports - ISSN 2045-2322-14:1 (2024) p. 1-23
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case
Source
Acta neuropathologica communications - ISSN 2051-5960-12:1 (2024) p. 1-32
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome
Source
European journal of human genetics - ISSN 1018-4813-32 (2024) p. 630-638