Robin Ryther
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View article: Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2–4 years with Rett syndrome
Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2–4 years with Rett syndrome Open
The study was supported by Acadia Pharmaceuticals (San Diego, CA). This study was registered at ClinicalTrials.gov (NCT04988867).
View article: Clinical Features and Disease Progression in Older Individuals With Rett Syndrome
Clinical Features and Disease Progression in Older Individuals With Rett Syndrome Open
Although long-term survival in Rett syndrome (RTT) has been observed, limited information on older people with RTT exists. We hypothesized that increased longevity in RTT would be associated with genetic variants in MECP2 associated with m…
View article: Distribution of hand function by age in individuals with Rett syndrome
Distribution of hand function by age in individuals with Rett syndrome Open
Objective We aimed to determine the longitudinal distribution of hand function skills in individuals with classic Rett syndrome (RTT), an X‐linked dominant neurodevelopmental disorder, and correlate with MECP2 variants. Method We conducted…
View article: Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study Open
Background Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily …
View article: Analysis of <scp>X‐inactivation</scp> status in a Rett syndrome natural history study cohort
Analysis of <span>X‐inactivation</span> status in a Rett syndrome natural history study cohort Open
Background Rett syndrome (RTT) is a rare neurodevelopmental disorder associated with pathogenic MECP2 variants. Because the MECP2 gene is subject to X‐chromosome inactivation (XCI), factors including MECP2 genotypic variation, tissue diffe…
View article: Phenotypic features in <scp><i>MECP2</i></scp> duplication syndrome: Effects of age
Phenotypic features in <span><i>MECP2</i></span> duplication syndrome: Effects of age Open
Background MECP2 Duplication syndrome (MDS) is a rare X‐linked genomic disorder that is caused by interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. Although phenotypic features in MDS have been described, there is …
View article: A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials Open
Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females. Recent work indicates the potential for disease modifying therapies. However, there remains a need to develop outcome measures for use in clinical trials.…
View article: Characterizing the phenotypic effect of Xq28 duplication size in <i>MECP2</i> duplication syndrome
Characterizing the phenotypic effect of Xq28 duplication size in <i>MECP2</i> duplication syndrome Open
Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections. In the present study, we examine the rel…