Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive
and behavioural deficits and represent a major public health burden. FXS is the most …

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized
by impairments in social interaction and communication along with repetitive stereotypic …

Fragile X syndrome (FXS) is caused by the loss of fragile X mental retardation protein
(FMRP), an RNA-binding protein that can regulate the translation of specific mRNAs. In this …

Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …

Fragile X syndrome (FXS) is a multi-organ disease that leads to mental retardation, macro-
orchidism in males and premature ovarian insufficiency in female carriers. FXS is also a …

The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual
disabilities has greatly informed our understanding of the molecular pathways critical for …

Abstract PI3K-AKT/mTOR signaling pathway represents an essential signaling mechanism
for mammalian enzyme-related receptors in transducing signals or biological processes …

Fragile X syndrome (FXS) is a common form of inherited intellectual disability and is one of
the leading known causes of autism. The mutation responsible for FXS is a large expansion …

Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism
spectrum disorder, and patients can present with severe behavioural alterations, including …

Fragile X syndrome (FXS), the most-frequently inherited form of intellectual disability and the
most-prevalent single-gene cause of autism, results from a lack of fragile X mental …