Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical
and immunological features of which parallel those of congenital viral infection. Here we …

Pulsed power accelerators compress electrical energy in space and time to provide versatile
experimental platforms for high energy density and inertial confinement fusion science. The …

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 …

Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; …

Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic
those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations …

Background De novo mutations in PURA have recently been described to cause PURA
syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), …

Background Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by
mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and …

Myotonic dystrophy is a relatively common type of muscular dystrophy, associated with a
variety of systemic complications. Long term follow-up is difficult because of the slow …

Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental
overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include …

Epilepsy is a common neurological disorder in both dogs and humans. It is refractory to
therapy in approximately one-third of canine patients, and even with the advent of new …