Search
MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
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...
Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...
To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.
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,...
The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...
This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.
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...
Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...