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Understanding Rett Syndrome: Genetic, clinical and therapeutic perspectives - literature review
Journal of Education, Health and SportIntroduction and Objective: Rett syndrome (RTT) is a genetic neurodevelopmental disorder that predominantly affects the female. The disease develops after 6 months of age causing abnormalities in the child's development.
Sylwia Urbańska +3 more
doaj +1 more source
Patients With Rett Syndrome Sustain Low-Energy Fractures [PDF]
, 2010 Gitte Roende +7 more
openalex +1 more source
Journal of Intellectual Disability Research, Volume 70, Issue 3, Page 262-273, March 2026.ABSTRACT Purpose Actigraphy is being increasingly used to assess sleep and circadian rhythms among populations with intellectual and developmental disabilities and genetic syndromes, including Rett syndrome and related disorders, but the reliability of these measures in these populations is unclear.
Breanne Byiers +4 more
wiley +1 more source
WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome [PDF]
, 2021 Florencia Haase +3 more
openalex +1 more source
Journal of Neurochemistry, Volume 170, Issue 2, February 2026.Ethanol exposure alters brain endothelial cell function and blood–brain barrier integrity. In human brain microcapillary endothelial cells (HBMEC) and mouse brain endothelial cells (MBEC) from a prenatal alcohol exposure (PAE) model, ethanol increased DNA methyltransferas‐1 (DNMT1) activity and reduced DNA methylation, affecting DNMT3a/3b, methyl‐CpG ...
Michele Siqueira +6 more
wiley +1 more source
Antiglycative Activity and RAGE Expression in Rett Syndrome [PDF]
, 2019 Valeria Cordone +7 more
openalex +1 more source
Stem Cell ResearchRett syndrome is characterized by severe global developmental impairments with autistic features and loss of purposeful hand skills. Here we show that human induced pluripotent stem cell (hiPSC) lines derived from four Japanese female patients with Rett ...
Miyu Mori +12 more
doaj +1 more source