Results 131 to 140 of about 3,757,153 (283)
Clinical Genetics, EarlyView.Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun +3 more
wiley +1 more source
Commonalities and differences between MECP2 duplication syndrome and Rett syndrome.
, 2016 Commonalities and differences between MECP2 duplication syndrome and Rett syndrome.
Claudio De Felice (383430) +12 more
core +1 more source
Unexpected cellular players in Rett syndrome pathology
Neurobiology of Disease, 2016 Rett syndrome is a devastating neurodevelopmental disorder, primarily caused by mutations of methyl CpG-binding protein 2 (MeCP2). Although the genetic cause of disease was identified over a decade ago, a significant gap still remains in both our ...
James C. Cronk +3 more
doaj +1 more source
Radically truncated MeCP2 rescues Rett syndrome-like neurological defects
Nature, 2017 Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett syndrome. The methyl-CpG-binding protein 2 (MeCP2) protein is an epigenetic reader whose binding to chromatin primarily depends on 5-methylcytosine.
R. Tillotson +8 more
semanticscholar +1 more source
Sleep profiles in individuals with rare neurogenetic syndromes
Developmental Medicine &Child Neurology, EarlyView.Aim To characterize sleep profiles in individuals with neurogenetic disorders (NGDs) and examine the contribution of key clinical and psychiatric symptoms to these profiles. Method The parents of 248 individuals (aged 3–45 years) diagnosed with a range of NGDs, including PTEN hamartoma tumor syndrome (n = 111), SYNGAP1‐related intellectual disability ...
Isabella C. Reyes +7 more
wiley +1 more source
Increased susceptibility to dicarbonyl stress in Rett syndrome
, 2018 Rett syndrome (RTT) is a rare neurodevelopmental disorder, resulting from mutations in the Xlinked methyl-CpG-binding protein 2 (MECP2) gene. Recent studies have shown that oxidative stress (OS) and subclinical inflammatory status play a key role in RTT
Pecorelli A. +9 more
core
Management of epilepsy in patients with Rett syndrome: perspectives and considerations [PDF]
, 2015 Natalija Krajnc Department of Child, Adolescent and Developmental Neurology, University Children’s Hospital, Ljubljana, Slovenia Abstract: Rett syndrome (RTT) is a common neurodevelopmental disorder that appears in infancy with regression of ...
Natalija Krajnc +2 more
core +1 more source
Consensus definition for developmental regression during childhood
Developmental Medicine &Child Neurology, EarlyView.In this study, 41 expert interdisciplinary clinicians participated in two rounds of a Delphi survey to reach a consensus agreement on the developmental domains and duration of regression. Reaching an agreed working definition is a crucial first step towards the earlier and consistent identification of children experiencing developmental regression ...
Gauravi Gawade +4 more
wiley +1 more source
Rett Syndrome Female Phenotypes
, 2003 The developmental data and spectrum of phenotypes in 120 females with Rett syndrome diagnosed with mutations in the MECP2 gene were evaluated at Gottingen University ...
J Gordon Millichap, Millichap, J. Gordon
core +1 more source
Developmental Medicine &Child Neurology, EarlyView.This systematic overview highlights communication impairment as a defining feature of Rett syndrome, with expressive language consistently affected more severely than receptive language and social ability. Across the literature, most studies rely on caregiver‐reported measures, with relatively few employing direct or objective measurements of speech ...
Lucas N. Raniolo +6 more
wiley +1 more source