Pinpointing brainstem mechanisms responsible for autonomic dysfunction in Rett syndrome:therapeutic perspectives for 5-HT1A agonists [PDF]
, 2014 Rett syndrome is a neurological disorder caused by loss of function of methyl-CpG-binding protein 2 (MeCP2). Reduced function of this ubiquitous transcriptional regulator has a devastating effect on the central nervous system.
Abdala, Ana Paula +2 more
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Validating the Rett Syndrome Gross Motor Scale. [PDF]
PLoS ONE, 2016 Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross motor abilities in this ...
Jenny Downs +6 more
doaj +1 more source
Loss of MECP2 Leads to Activation of P53 and Neuronal Senescence. [PDF]
, 2018 To determine the role for mutations of MECP2 in Rett syndrome, we generated isogenic lines of human induced pluripotent stem cells, neural progenitor cells, and neurons from patient fibroblasts with and without MECP2 expression in an attempt to ...
Allen, Denise +17 more
core +2 more sources
Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]
, 2020 Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP +12 more
core +2 more sources
VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia
Molecular Cytogenetics, 2018 Background VIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific program have ...
Ivan Y. Iourov +3 more
doaj +1 more source
R306X Mutation in the Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report
Clinical Pathology, 2022 Rett syndrome (RTT) is a rare X-linked syndrome that predominantly affects girls. It is characterized by a severe and progressive neurodevelopmental disorder with neurological regression and autism spectrum features.
Wafaa Bouzroud +4 more
doaj +1 more source
Modeling Rett Syndrome With Human Patient-Specific Forebrain Organoids
Frontiers in Cell and Developmental Biology, 2020 Engineering brain organoids from human induced pluripotent stem cells (hiPSCs) is a powerful tool for modeling brain development and neurological disorders. Rett syndrome (RTT), a rare neurodevelopmental disorder, can greatly benefit from this technology,
A. Gomes +13 more
semanticscholar +1 more source
Deficiency of GABAergic synaptic inhibition in the Kölliker-Fuse area underlies respiratory dysrhythmia in a mouse model of Rett syndrome [PDF]
, 2015 Life threatening breathing irregularity and central apnoeas are highly prevalent in children suffering from Rett syndrome. Abnormalities in inhibitory synaptic transmission have been associated with the physiopathology of this syndrome, and may underlie ...
Abdala, Ana Paula +4 more
core +2 more sources
Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention
The Scientific World Journal, 2006 Rett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome.
Meir Lotan, Bruria Ben-Zeev
doaj +1 more source
Digital Health, 2023 Sleep is vital to many processes involved in the well-being and health of children; however, it is estimated that 80% of children with Rett syndrome suffer from sleep disorders.
Miroslava Migovich +4 more
doaj +1 more source