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Research
Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year PeriodWe describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database
Research
Rett Syndrome: Revised diagnostic criteria and nomenclatureThe purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.
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Linking MECP2 and pain sensitivity: the example of Rett syndromeThis study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
Research
InterRett, a model for international data collection in a rare genetic disorderThis study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...
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International award for Rett syndrome researchA Perth medical researcher responsible for major advancements in the understanding of the neurological disorder Rett syndrome has had her efforts recognised
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Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probandComprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
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Oral health experiences of individuals with Rett syndrome: A retrospective studySocial advantage may provide some protection for dental health in individuals with Rett syndrome
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Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidenceTo develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.