Results 61 to 70 of about 2,296,312 (307)
Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]
, 2014 The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia +2 more
core +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
Hand Stereotypies in Rett Syndrome
Pediatric Neurology Briefs, 2020 Researchers from the Rett Syndrome Natural History Study organized a longitudinal study across the United States of America with the aim to characterize hand stereotypies in patients with Rett syndrome.
Matheus G Ferreira, Helio A. G. Teive
doaj +1 more source
Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome
Neurology, 2019 Objective To determine safety, tolerability, and pharmacokinetics of trofinetide and evaluate its efficacy in female children/adolescents with Rett syndrome (RTT), a debilitating neurodevelopmental condition for which no pharmacotherapies directed at ...
D. Glaze +10 more
semanticscholar +1 more source
The Pathophysiology of Rett Syndrome With a Focus on Breathing Dysfunctions.
Physiology, 2020 Rett syndrome (RTT), an X-chromosome-linked neurological disorder, is characterized by serious pathophysiology, including breathing and feeding dysfunctions, and alteration of cardiorespiratory coupling, a consequence of multiple interrelated ...
J. Ramirez +6 more
semanticscholar +1 more source
Science Translational Medicine, 2019 KCC2 expression–enhancing small molecules rescue cellular and behavior deficits in human RTT neurons and Mecp2 mutant mice. Restoring balance in Rett syndrome Rett syndrome (RTT) is a neurodevelopmental disorder causing cognitive, motor, and emotional ...
Xin Tang +11 more
semanticscholar +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
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.
Rebekah Tillotson +8 more
openalex +3 more sources
Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder
Brain : a journal of neurology, 2019 With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on the link between Rett syndrome and MECP2 mutations, it is important to reflect on the tremendous advances in our understanding ...
A. Banerjee +4 more
semanticscholar +1 more source
The Journal of the Singapore Paediatric Society, 1992 Five girls, aged 2.5 years to 10 years, with Rett Syndrome are presented. The girls (four Chinese and one Indian) demonstrate the classic features of developmental regression with dementia, loss of hand function and stereotyped hand movements. There are as yet no pathognomonic laboratory markers and diagnosis can be difficult especially in the early ...
J Gordon Millichap
+11 more sources