Researchers have identified an unusual genetic variant in the EEF1A gene as the likely cause of Rett syndrome-like…
Articles by Ana Pena, PhD
Mutations that affect a specific form of the MeCP2 protein may lead to milder symptoms of Rett syndrome…
Two new mutations causing Rett syndrome in the KIF1A and GRIN1 genes were discovered in two Chinese infants,…
The altered gut bacteria found in girls with Rett syndrome influence their gastrointestinal symptoms and disease severity, making the…
Sarepeta Therapeutics and StrideBio will collaborate to advance novel gene therapies for four genetic neurological disorders, including…
Ten new mutations in the MECP2 gene have been identified in a group of children and adults with…
Defects in mitochondria — cells’ powerhouses — and nerve cell damage resulting from increased oxidative stress may account for…
Two brothers with Rett syndrome carrying the same MECP2 mutation display distinct disease courses, a case study reports,…
An algorithm that measures spontaneous variations in pupil dilation or heart rate could allow much earlier detection of Rett…
Certain microRNAs (miRNAs) abundant in the brain and detectable in the blood can serve as potential biomarkers of disease course…