Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer
disease and several childhood genetic disorders categorized as neuroaxonal dystrophies …

Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of
TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 …

Bi‐allelic variants in CHST14, encoding dermatan 4‐O‐sulfotransferase‐1 (D4ST1), cause
musculocontractural Ehlers–Danlos syndrome (MC‐EDS), a recessive disorder …

In part because it is amphetamine derived, ecstasy has inherited some of its parent
compound's reputation for being neurotoxic. However, whereas amphetamine and …

The neurotrophin brain-derived neurotrophic factor (BDNF) inhibits food intake, and rodent
models of BDNF disruption all exhibit increased food intake and obesity, as well as …

The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also
known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces …

Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome
comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in …

Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the
cardinal features of which include craniosynostosis, polysyndactyly, obesity, and cardiac …

Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder
characterized by developmental abnormalities of the eye and central nervous system and by …

Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene
regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and …