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The Neurobiology of Rett Syndrome
The Neuroscientist, 2003Rett syndrome is a neuropsychiatric disorder with onset in early childhood. Loss-of-function mutations of the X-linked gene encoding methyl-CpG binding protein 2 ( MECP2) are responsible for more than 80% of Rett cases. Despite these recent advances in molecular genetics, little is known about the neurobiology of Rett syndrome and the role of MeCP2 ...
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Rett syndrome and the electroencephalogram
American Journal of Medical Genetics, 1986The EEG is almost always abnormal in patients with Rett syndrome. This is demonstrated in a study based upon 230 EEG records obtained from 44 patients. Rhythmical slowing (mostly 3-5/sec) represents the most common EEG abnormality (30 patients). Diffuse, scattered or bilateral-synchronous spikes or sharp waves were found in 22 patients. Slow spike-wave
E. Niedermeyer +6 more
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Rett Syndrome and Menstruation
Journal of Pediatric and Adolescent Gynecology, 2012Describe the experience that girls with Rett syndrome have with menstruation including menstrual hygiene, dysmenorrhea, premenstrual syndrome (PMS), and attempts at treatment.Anonymous web-based survey.Convenience sample recruited from Rett syndrome LISTSERV in July of 2009.Mothers of girls with Rett syndrome between the ages of 10-25 who have had at ...
Amy, Hamilton +3 more
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Neuropathology of Rett syndrome
Acta Neuropathologica, 1988Rett syndrome is an increasingly recognized progressive disorder in females, commencing in infancy and characterized by autistic behavior, gait ataxia, stereotyped movements, seizures and generalized growth and mental retardation, possibly associated with disorders of central biogenic amine synthesis.
K, Jellinger +3 more
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Neurophysiology of Rett syndrome
Brain and Development, 2001Neurophysiological studies on Rett syndrome (RTT) are reviewed, and pathophysiology of RTT is discussed. The electroencephalography (EEG), sensory evoked potentials (SEP), sleep-wake rhythm study and polysomnography (PSG) study showed age-dependent characteristics.
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Neuropathology of rett syndrome
American Journal of Medical Genetics, 1986Autopsy studies in 8 girls with the Rett syndrome dying between 4 and 15 years showed: Diffuse cerebral atrophy/micrencephaly, with a decrease in brain weight by 13.8 to 33.8% of age-matched controls, apparently related to the duration of the disorder; Mild, but inconsistent diffuse cortical atrophy without developmental disorders apart from occasional
Kurt Jellinger +3 more
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Bromocriptine in the rett syndrome
Brain and Development, 1990Twelve typical cases of the Rett syndrome and one forme fruste were treated with bromocriptine for six months and then had a washout for two months followed by resumption of the bromocriptine treatment. During the first bromocriptine treatment there were improvements in communication and relaxation in some of the girls: a more regular sleep pattern was
M. Zappella +3 more
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Brain and Development, 1990
Two young males in their thirties are reported with a clinical history and examination indistinguishable from typical females with the Rett syndrome. Both had normal early development. The first patient had a regression by the end of the second year.
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Two young males in their thirties are reported with a clinical history and examination indistinguishable from typical females with the Rett syndrome. Both had normal early development. The first patient had a regression by the end of the second year.
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On the genetics of the Rett syndrome
Brain and Development, 1985Ever since its recognition as a separate disease, the Rett syndrome has been reported to afflict girls only. For this reason, heredity has consistently remained at the forefront of discussions regarding putative causes. On account of the gravity of the disorder and the want for adequate therapy, the clarification of its genesis is of great practical ...
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