Results 31 to 40 of about 18,028 (242)
Journal of Neurodevelopmental Disorders, 2019 Background Rett syndrome is a neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene. Individuals with Rett syndrome typically develop normally until around 18 months of age before undergoing a developmental regression, and the ...
Katherine J. Roche +5 more
doaj +1 more source
Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review
Frontiers in Neurology, 2022 Rett Syndrome (RTT) is a rare and severe X-linked developmental brain disorder that occurs primarily in females, with a ratio of 1:10.000. De novo mutations in the Methyl-CpG Binding protein 2 (MECP2) gene on the long arm of X chromosome are responsible ...
Giorgia Tascini +6 more
doaj +1 more source
HYDROTHERAPY FOR RETT SYNDROME
Journal of Rehabilitation Medicine, 2003 The effects of hydrotherapy on an 11-year-old girl with stage III Rett syndrome were investigated.The Halliwick method was used to apply hydrotherapy in a swimming pool twice a week for 8 weeks. The girl's physical abilities were assessed 3 times: before and 5 minutes after a single hydrotherapy session and after 8 weeks of hydrotherapy.
Gonca Bumin +9 more
openaire +4 more sources
The GAIRS Checklist: a useful global assessment tool in patients with Rett syndrome
Orphanet Journal of Rare Diseases, 2022 Background Rett Syndrome is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births.
Rosa Angela Fabio +2 more
doaj +1 more source
Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies
Children, 2023 The present study aimed to evaluate the burden and management of fragility fractures in subjects with Rett syndrome. We searched all relevant medical literature from 1 January 1986 to 30 June 2023 for studies under the search term “Rett syndrome and ...
Carla Caffarelli +6 more
doaj +1 more source
CNV and nervous system diseases - what's new? [PDF]
, 2008 Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core +1 more source
Rett syndrome linked to defects in forming the MeCP2/Rbfox/LASR complex in mouse models
Nature Communications, 2021 MeCP2 mutations can cause Rett syndrome, a severe childhood neurological disorder. Here the authors show that MeCP2 mediates the higher-order assembly of a large splicing complex Rbfox/LASR, which is disrupted in the mouse models of Rett syndrome.
Yan Jiang +13 more
doaj +1 more source
Advanced Science, EarlyView.Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska +14 more
wiley +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Development of trofinetide for the treatment of Rett syndrome: from bench to bedside
Frontiers in PharmacologyRett syndrome (RTT) is rare neurodevelopmental disorder caused by mutations in the MECP2 gene that encodes methyl-CpG-binding protein 2 (MeCP2), a DNA-binding protein with roles in epigenetic regulation of gene expression.
Melissa Kennedy +11 more
doaj +1 more source