Results 11 to 20 of about 18,028 (242)
Journal of Intellectual Disability Research, 2015 AbstractBackgroundThe aim was to gain a UK national sample of people with Rett syndrome across the age range and (1) conduct a cross‐sectional comparison of age groups and (2) undertake a longitudinal follow‐up.MethodsFrom 308 potential participants approached to take part, a sample of 91 girls and women was achieved (29.5%).
R. Cianfaglione +5 more
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Rett Syndrome; Diagnostic Criteria
Pediatric Neurology Briefs, 1988 Diagnostic criteria for Rett Syndrome are proposed by the International Rett Syndrome Association and the Centers for Disease Control, Koger Center, F-37, Atlanta, GA.
J Gordon Millichap
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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
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PLoS ONE, 2013 ObjectiveRett Syndrome is a progressive neurodevelopmental disorder caused mainly by mutations in the gene encoding methyl-CpG-binding protein 2. The relevance of MeCP2 for GABAergic function was previously documented in animal models.
Sofia Temudo Duarte +11 more
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Vagus Nerve Stimulation Paired With Tones Alters the Auditory Cortex Proteome in a Rat Model of Rett Syndrome. [PDF]
Dev NeurobiolABSTRACT Rett syndrome is a neurodevelopmental disorder caused by an X‐linked mutation of the MeCP2 gene. Individuals with Rett syndrome, as well as rodent models of this disorder, demonstrate abnormal cortical responses to sound, which impair auditory discrimination ability.
Myers IK +6 more
europepmc +2 more sources
Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysis [PDF]
, 2023 Objectives: Ataxic-rigid gait is a characteristic gait pathology in patients with Rett syndrome (RTT). In the present study, we aimed to quantitatively evaluate gait pathology in patients with RTT using three-dimensional gait analysis (3DGA). Methods: We
Ishihara, Naoko +13 more
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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.
Newman-Tancredi, Adrian +8 more
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Comparison of evoked potentials across four related developmental encephalopathies
Journal of Neurodevelopmental Disorders, 2023 Background Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking.
Joni N. Saby +12 more
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Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]
, 2010 Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Leonard, Helen +44 more
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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
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