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
Identification of a DLG3 stop mutation in the MRX20 family
Source
European journal of human genetics - ISSN 1018-4813-32 (2024) p. 317-323
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
Source
Scientific reports - ISSN 2045-2322-11:1 (2021) p.
Reduced serum levels of pro-inflammatory chemokines in fragile X syndrome
Source
BMC neurology - ISSN 1471-2377-20:1 (2020) p. 1-12