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Impact of scoliosis surgery on daily living

We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.

Validating the rett syndrome gross motor scale

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials

Critical mass in rare diseases - an innovative internet approach

The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.

International award for Rett syndrome research

A Perth medical researcher responsible for major advancements in the understanding of the neurological disorder Rett syndrome has had her efforts recognised

Genetic analysis reveals range of Rett syndrome

The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome

Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families

Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.

Video: One brave little girl's battle with Rett syndrome

Imagine your baby is developing normally, then suddenly she starts losing skills. Watch Marlee's story below and find out what researchers are doing.

Early development and regression in Rett syndrome

Our findings provide additional insight into the early clinical profile of Rett syndrome.

The diagnostic odyssey to Rett syndrome: The experience of an Australian family

The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.