Results 31 to 40 of about 2,296,312 (307)
Multisite Study of Evoked Potentials in Rett Syndrome
Annals of Neurology, 2021 The aim of the current study was to evaluate the utility of evoked potentials as a biomarker of cortical function in Rett syndrome (RTT). As a number of disease‐modifying therapeutics are currently under development, there is a pressing need for ...
Joni N. Saby +13 more
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The Molecular Functions of MeCP2 in Rett Syndrome Pathology
Frontiers in Genetics, 2021 MeCP2 protein, encoded by the MECP2 gene, binds to DNA and affects transcription. Outside of this activity the true range of MeCP2 function is still not entirely clear.
O. Sharifi, D. Yasui
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Disability and Rehabilitation: Assistive Technology, 2021 Purpose To examine the effect of a communication intervention package on expressive communication and visual attention in individuals with Rett syndrome.
Helena Wandin +2 more
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Genes, 2021 Introduction: Progress in the clinical application of next-generation-sequencing-based techniques has resulted in a dramatic increase in the recognized genetic heterogeneity of the Rett syndrome spectrum (RSS).
C. Spagnoli, C. Fusco, F. Pisani
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Oral Manifestations of Rett Syndrome—A Systematic Review
International Journal of Environmental Research and Public Health, 2021 Rett Syndrome is an x linked developmental disorder which becomes apparent in females after 6 to 18 months of age. It leads to severe impairments including loss of speech, loss of hand movements/manual dexterity, characteristic hand movements such as ...
S. Mahdi +5 more
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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
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
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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
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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
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