Long-term clinical profiles of female patients with classic Rett syndrome are presented and exemplified by three cases, as experienced over four decades. Emphasized is the frequently surprisingly ...
Researchers have gained new insights into the molecular changes leading to Rett syndrome, a severe neurological disorder caused by mutations in the MeCP2 gene encoding methyl-CpG binding protein 2 ...
The resulting discord in gene expression leads to Rett syndrome. "In the current study, our goal was to better understand the molecular changes that occur upon loss of MeCP2 function. Previous ...
Researchers at Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital and collaborating institutions have gained new insights into the ...
Rett syndrome is a rare genetic neurological disorder that almost exclusively occurs in girls. It leads to serious impairments that affect almost every part of the child's life. Though Rett ...
BUFFALO, N.Y. (WKBW) — After years of advocacy here in Western New York and a push from lawmakers in Albany, Governor Kathy Hochul signed the Down Syndrome Awareness Bill on Friday. "It feels ...
also known as Cushing syndrome, Corcept Therapeutics is launching its first-ever direct-to-consumer campaign raising awareness of the condition and screening options. Korlym became the first drug ...
Summary: Researchers have uncovered how loss of the MeCP2 protein triggers early molecular changes leading to Rett syndrome, a severe neurological disorder. By studying adult mice, they demonstrated ...
Angelman syndrome is a rare disease that disrupts the normal development and function of cells, particularly in the nervous system, leading to severe developmental delays and learning disabilities.
To raise awareness and to help fund a cure, on Saturday the family will host the third annual Do it for Declan 5K and Fun Run at Wylie’s Founder’s Park. Over the last couple of years ...