Results 111 to 120 of about 3,757,153 (283)
JCPP Advances, EarlyView.Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes +3 more
wiley +1 more source
MUSIC THERAPY IN RETT SYNDROME CASES [PDF]
, 2018 Rett syndrome is a rare (0,01%) genetic disorder affecting girls\u27 development. Individuals with Rett syndrome experience a full range of health problems that severely influence and complicate their mobility, intellect, communication, learning, and ...
Vita Andziule +5 more
core +1 more source
Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome
International Journal of Molecular Sciences, 2019 Rett syndrome (RTT) is a rare, X-linked neurodevelopmental disorder typically affecting females, resulting in a range of symptoms including autistic features, intellectual impairment, motor deterioration, and autonomic abnormalities.
Uri Kahanovitch +3 more
semanticscholar +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
, 2013 We describe a sample of 72 adult subjects with Rett Syndrome (RTT) from the clinical, autonomic and genetic point of view. Among these there were 54 subjects (75%) with the classical form of RTT, 18 with the variant form (25%)
Bottiglioni Ilaria +12 more
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Rett syndrome: a neurological disorder with metabolic components
Open Biology, 2018 Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator. Despite remarkable scientific progress since its discovery, the mechanism by
Stephanie M. Kyle, N. Vashi, M. Justice
semanticscholar +1 more source
The cost of Rett syndrome [PDF]
Developmental Medicine & Child Neurology, 2019 This commentary is on the original article by Rodocanachi Roidi et al. on pages 957–963 of this issue.
openaire +2 more sources
Genetic Etiologies of Dystonia with Anarthria/Aphonia
Movement Disorders Clinical Practice, EarlyView.Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey +7 more
wiley +1 more source
, 2009 Rett syndrome is a thief! It robs little girls of their projected life. It lulls their families into a false sense of security while their little girls develop normally for 6 to 18 months.
Cox, Deborah Ann
core
Characterization of human mosaic Rett syndrome brain tissue by single-nucleus RNA sequencing
Nature Neuroscience, 2018 In females with X-linked genetic disorders, wild-type and mutant cells coexist within brain tissue because of X-chromosome inactivation, posing challenges for interpreting the effects of X-linked mutant alleles on gene expression.
W. Renthal +8 more
semanticscholar +1 more source