نتایج جستجو برای: rett syndrome

تعداد نتایج: 622097  

Journal: :Biochemical Society transactions 2008
Adrian Bird

The methyl-CpG-binding protein MeCP2 was discovered over 15 years ago as part of a search for proteins that selectively bind methylated DNA. It is a nuclear protein that is largely chromatin-bound and has a strong preference for binding to methylated DNA sequences in vivo. Evidence from model systems shows that MeCP2 can recruit the Sin3a co-repressor complex to promoters leading to transcripti...

Journal: :Neuropediatrics 2007
V T Ramaekers J M Sequeira R Artuch N Blau T Temudo A Ormazabal M Pineda A Aracil F Roelens F Laccone E V Quadros

Rett syndrome was associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF) in 42-50% of European patients whereas approximately 93% of the patients from North-America had a normal CSF 5MTHF status. We determined the CSF folate status in Rett patients living in North- and South-Western Europe and measured serum folate receptor (FR) autoantibodies of the blocking type to exp...

Journal: :Journal of Nepal Paediatric Society 1970

Journal: :Pediatric Neurology Briefs 1997

Journal: :Brain and Development 2016

Journal: :Journal of child neurology 2014
Breanne J Byiers Raymond C Tervo Timothy J Feyma Frank J Symons

Data were collected parenting stress, adaptive behavior, pain, and health issues from the caregivers of 35 girls and women with Rett syndrome (mean age = 20.3). A majority (60%) of parents reported stress in the clinical range on at least 1 subscale of the Parenting Stress Index-Short Form. Seizures and uncertainty about their daughter's gastrointestinal pain experience were significantly assoc...

Journal: :Cell 2016
Huda Y. Zoghbi

This year marks the 50th anniversary of the publication of Andreas Rett's report on 22 girls who developed a peculiar and devastating neurological disorder that later came to bear his name. On this occasion, we reflect on the progress that has occurred in understanding Rett Syndrome, development of potential treatments, and the ramifications that Rett research has had on the fields of neurobiol...

Journal: :Clinical Hemorheology and Microcirculation 2013

Journal: :Developmental Medicine & Child Neurology 2019

Journal: :Developmental Medicine & Child Neurology 2008

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