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Gastrointestinal dysmotility in Rett syndrome

We reviewed literature and RettNet to explore firsthand perspectives of gastrointestinal issues in Rett Syndrome, then developed recommendations with experts.

Using a large international sample to investigate epilepsy in Rett syndrome

Using a large sample size, we investigated the relationships between epilepsy and genotype, and the impact of medications used on seizure management.

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors

This study measured changes in bone density over time using dual energy x-ray absorptiometry (DEXA). Lean tissue or muscle mass (LTM) was also measured.

Seizures in Rett syndrome: an overview from a one-year calendar study

We collected information on a monthly basis on the patterns of seizures and medications of 162 girls in the Australian Rett Syndrome study over a calendar year.

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

This study explored relationships between speech and language abilities in girls with Rett syndrome and how they may be affected by the type of genetic mutation

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

We interviewed 21 families with a daughter with Rett Syndrome about aspects of their daughters' lives that were satisfying or challenging to them.

Oxidative cross-linking of calprotectin occurs in vivo, altering its structure and susceptibility to proteolysis

Oxidative cross-linking of calprotectin occurs in vivo, altering its structure and susceptibility to proteolysis Abstract Calprotectin, the major