Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis
due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one …

Impairments in social interaction are a key feature of autism and are associated with atypical
social information processing. Here we report functional magnetic resonance imaging (fMRI…

During rest, brain activity is synchronized between different regions widely distributed throughout
the brain, forming functional networks. However, the molecular mechanisms supporting …

The underlying neurobiology of autism, a severe pervasive developmental disorder,
remains unknown. Few neocortical brain MRI abnormalities have been reported. Using rest …

Diffuse intrinsic pontine glioma (DIPG) is the most severe paediatric solid tumour, with no
significant therapeutic progress made in the past 50 years. Recent studies suggest that diffuse …

Cerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel
(MKS) syndrome belong to the group of developmental autosomal recessive disorders that …

Malignant migrating partial seizures of infancy (MMPSI) is a rare epileptic encephalopathy
of infancy that combines pharmacoresistant seizures with developmental delay 1 . We …

Genetic disorders of iron metabolism and chronic inflammation often evoke local iron
accumulation. In Friedreich ataxia, decreased iron-sulphur cluster and heme formation leads to …

CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal
naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, …

The most common clinical sign of autism spectrum disorders (ASD) is social interaction
impairment, which is associated with communication deficits and stereotyped behaviors. Based …