… They also encompass deficiencies of N-acetylglutamate synthase (NAGS) (MIM #237310),
associated with lack of the N-acetylglutamate (NAG) essential activator of CPS1 and of the …

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

NBIA characterizes a class of neurodegenerative diseases that feature a prominent extrapyramidal
movement disorder, intellectual deterioration, and a characteristic deposition of iron …

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 …

… Sections in m, n, p and q are stained with hematoxylin-eosin. n and q show a higher …
Scale bars are 500 μm in e–j, 250 μm in k–m and p, 100 μm in u and v and 50 μm in n, o …

… Mutations in the N-terminal tail of histone H3 genes have been recently found in midline
pHGG and at particular high frequency in DIPG. Our results support that substitution of the lysine …

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…

… For the survival studies, the mice were followed daily after tamoxifen gavage (PIK3CA WT
n = 16 and PIK3CA CAGG-CreER n = 16). For the preventive studies, the mice were treated …

… IDIPGR patients (n = 409) were age 0 to 27 years from the United States, Canada, and
Australia. SIOPE-DIPGR patients (n = 721) were age 0 to 21 years from the Netherlands, Germany…