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Neuropathology of Rett syndrome
Mental Retardation and Developmental Disabilities Research Reviews, 2002Rett syndrome is a sporadic disorder (except for a few familial cases) occurring in 1 in 10,000 to 1 in 23,000 girls worldwide. It is associated with profound mental and motor handicap. About 90% of cases involve a mutation in the methyl-CpG binding protein 2 gene ( MECP2).
Dawna D Armstrong
exaly +4 more sources
Neuropediatrics, 2017 Rett Syndrome (RTT) is a neurodevelopmental disorder that predominantly affects females but males with RTT have been identified. RTT was first described by an Austrian pediatrician, Andreas Rett.
S. Naidu, C. L. Smith-Hicks
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The Indian Journal of Pediatrics, 2000
Rett syndrome is a progressive neurodegenerative disease of unknown etiology. Reported here are three children who presented with all clinical features of Rett syndrome. The aim of this presentation is to alert physicians to the existence of this progressive brain disease which only affects girls and so far no specific treatment has been suggested.
M, Ghofrani, T, Mahmoodian
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Rett syndrome is a progressive neurodegenerative disease of unknown etiology. Reported here are three children who presented with all clinical features of Rett syndrome. The aim of this presentation is to alert physicians to the existence of this progressive brain disease which only affects girls and so far no specific treatment has been suggested.
M, Ghofrani, T, Mahmoodian
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Current Opinion in Neurology, 1995
Rett syndrome is a unique and puzzling disorder noted in females, and is possibly caused by fundamental failures in critical brain connectivity during early infancy. Recent reports expand our understanding of the Rett syndrome phenotype, continue the pattern of inconsistent or inconclusive metabolic and genetic results, and extend observations ...
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Rett syndrome is a unique and puzzling disorder noted in females, and is possibly caused by fundamental failures in critical brain connectivity during early infancy. Recent reports expand our understanding of the Rett syndrome phenotype, continue the pattern of inconsistent or inconclusive metabolic and genetic results, and extend observations ...
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The Journal of Pediatrics, 1997
Bone density analysis, dietary intake, and anthropometrics were compared in 20 subjects with Rett syndrome (RS), 25 normal control subjects, and 11 girls with cerebral palsy. Bone mineral density, bone mineral content, and spine (bone) mineral density were significantly reduced in the RS group.
R H, Haas +3 more
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Bone density analysis, dietary intake, and anthropometrics were compared in 20 subjects with Rett syndrome (RS), 25 normal control subjects, and 11 girls with cerebral palsy. Bone mineral density, bone mineral content, and spine (bone) mineral density were significantly reduced in the RS group.
R H, Haas +3 more
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Journal of Pediatric Orthopaedics, 1988
Rett syndrome is a progressive encephalopathy observed only in girls, who are apparently normal until 6 to 12 months of age. It is characterized by autism, dementia, ataxia, stereotypic hand movements, hyperreflexia, spasticity, and seizures. Eight of 10 females with Rett syndrome evaluated at the Alfred I.
D, Keret +3 more
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Rett syndrome is a progressive encephalopathy observed only in girls, who are apparently normal until 6 to 12 months of age. It is characterized by autism, dementia, ataxia, stereotypic hand movements, hyperreflexia, spasticity, and seizures. Eight of 10 females with Rett syndrome evaluated at the Alfred I.
D, Keret +3 more
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Pediatric Anesthesia, 1996
SummaryRett syndrome is a devastingly disabling neurological disease that is only observed in girls. Scoliosis occurs in roughly half the girls and surgery may be required. Anaesthesia is described in three patients. Sudden death may be a feature of the disease which occurred four weeks postoperatively in one case.
O R, Dearlove, R W, Walker
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SummaryRett syndrome is a devastingly disabling neurological disease that is only observed in girls. Scoliosis occurs in roughly half the girls and surgery may be required. Anaesthesia is described in three patients. Sudden death may be a feature of the disease which occurred four weeks postoperatively in one case.
O R, Dearlove, R W, Walker
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Child and Adolescent Psychiatric Clinics of North America, 2007
Rett syndrome (RS) is an X-linked neurodevelopmental disorder and the second most common cause of genetic mental retardation in females. Different mutations in MECP2 are found in up to 95% of typical cases of RS. This mainly neuronal expressed gene functions as a major transcription repressor. Extensive studies on girls who have RS and mouse models are
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Rett syndrome (RS) is an X-linked neurodevelopmental disorder and the second most common cause of genetic mental retardation in females. Different mutations in MECP2 are found in up to 95% of typical cases of RS. This mainly neuronal expressed gene functions as a major transcription repressor. Extensive studies on girls who have RS and mouse models are
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Pathophysiology of rett syndrome
Brain and Development, 1987Rett syndrome is a distinct clinical entity with an unknown cause. In previous publications we stressed the age related sequential appearance of pathognomonic symptoms of Rett syndrome and suggested the early central monoaminergic deficiency disorder as the pathophysiology.
Y, Nomura, K, Honda, M, Segawa
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The Indian Journal of Pediatrics, 1997
Rett syndrome (RS) is a neurological disorder that mainly, and possibly exclusively, affects girls. After its description in 1966 by Andreas Rett in the Wiener Klinische Wochenschrift, awareness and interest in RS were enhanced by the 1983 report of Hagberg et al. in the Annals of Neurology. Diagnosis, and indeed the hypothesis that it exists, continue
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Rett syndrome (RS) is a neurological disorder that mainly, and possibly exclusively, affects girls. After its description in 1966 by Andreas Rett in the Wiener Klinische Wochenschrift, awareness and interest in RS were enhanced by the 1983 report of Hagberg et al. in the Annals of Neurology. Diagnosis, and indeed the hypothesis that it exists, continue
openaire +2 more sources