Adeno-associated viral (AAV) vectors are a rapidly emerging gene therapy platform for the
treatment of neurological diseases. In preclinical studies, transgenes encoding therapeutic …

Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the gene
encoding methyl-CpG-binding protein 2 (MeCP2). Almost two decades of research into RTT …

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 …

Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the X-linked
gene MECP2 (methyl-CpG-binding protein 2). Two decades of research have fostered the …

Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects
predominantly females. In most cases, RTT is associated with pathogenic variants in …

Autism spectrum disorders (ASD) are complex neurodevelopmental diseases in which
different combinations of genetic mutations may contribute to the phenotype. Using Rett …

Syndromic autism spectrum disorders represent a group of childhood neurological
conditions, typically associated with chromosomal abnormalities or mutations in a single …

Rett syndrome (RTT) is an X-linked, neurodevelopmental disorder caused primarily by
mutations in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes a …

Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs
are being identified with various genome analysis platforms, including array comparative …

During the last quarter of the twentieth century, our knowledge about human genetic
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …