Results 11 to 20 of about 18,037 (234)
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 [PDF]
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 [PDF]
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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Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome. [PDF]
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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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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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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