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This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...

This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.

The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...

The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...