About
Contact & Profiles
A5092238404
Research Areas
- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
Roche (United Kingdom)
2023
Angelman syndrome (AS) is a rare, heterogenous neurogenetic condition, which significantly impacts the lives of people with AS and their families. Valid reliable measures reporting key symptoms functional impairments are required to support development patient-centered therapies. We describe clinician- caregiver-reported, AS-specific Global Impression scales for incorporation into clinical trials. Best practice US Food Drug Administration guidance measure was followed input from expert...
10.1186/s13023-023-02729-y
article
EN
cc-by
Orphanet Journal of Rare Diseases
2023-06-22
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