Results 91 to 100 of about 18,037 (234)
BMC Medical Genetics, 2020 Background More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription.
Carla Caffarelli +6 more
doaj +1 more source
Genetic testing in paediatric neurological disorders
Developmental Medicine &Child Neurology, EarlyView.In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba +15 more
wiley +1 more source
Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome
The FEBS Journal, EarlyView.Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer +6 more
wiley +1 more source
Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome
Egyptian Pediatric Association Gazette, 2015 Background: Rett syndrome is a progressive neurodevelopment disorder which mainly affects females and is a common cause of mental retardation. Loss of purposeful hand movements, regression of acquired cognitive and motor skills and autistic features are ...
Hisham Megahed +2 more
doaj +1 more source
The cost of Rett syndrome [PDF]
Developmental Medicine & Child Neurology, 2019 This commentary is on the original article by Rodocanachi Roidi et al. on pages 957–963 of this issue.
openaire +2 more sources
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background People with intellectual disability experience significant gaps in healthcare delivery resulting in poor health outcomes. Appropriately designed healthcare is required to meet the needs of this population and achieve better health outcomes.
Jenny Downs +6 more
wiley +1 more source
Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV [PDF]
, 2014 Carlos BM Monteiro,1 Geert JP Savelsbergh,2 Ana RP Smorenburg,3 Zodja Graciani,4 Camila Torriani-Pasin,5 Luiz Carlos de Abreu,6 Vitor E Valenti,7 Fernando Kok41School of Arts, Sciences and Humanities, University of São Paulo, São Paulo ...
Graciani Z +7 more
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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
Factors Associated With Postsurgical Pain in Children and Adolescents With Cognitive Dysfunction
Journal of Clinical Nursing, EarlyView.ABSTRACT Aim To describe the characteristics of paediatric postoperative patients with cognitive dysfunction and assess the prevalence of pain and associated factors. Desing A descriptive observational study. Methods Cross‐sectional study in children and adolescents who had undergone surgery in the previous 72 h with cognitive dysfunction impeding ...
Débora Sierra‐Núñez +8 more
wiley +1 more source
Ketogenic diet in Rett syndrome. [PDF]
, 2003 Treatment of Rett syndrome with the ketogenic diet has been reported only once and showed positive effects on seizure frequency and behavior. We report a patient with Rett syndrome who was treated with the ketogenic diet for 4 years.
Liebhaber, GM;Riemann, E;Baumeister, FA
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