Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)

BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, which causes developmental, behavioral, and medical challenges. While currently untreatable, comprehensive data could help identify appropriate endpoints assessing meanin...

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Detalles Bibliográficos
Autores principales: Tjeertes, Jorrit, Bacino, Carlos A., Bichell, Terry Jo, Bird, Lynne M., Bustamante, Mariana, Crean, Rebecca, Jeste, Shafali, Komorowski, Robert W., Krishnan, Michelle L., Miller, Meghan T., Nobbs, David, Ochoa-Lubinoff, Cesar, Parkerson, Kimberly A., Rotenberg, Alexander, Sadhwani, Anjali, Shen, Mark D., Squassante, Lisa, Tan, Wen-Hann, Vincenzi, Brenda, Wheeler, Anne C., Hipp, Joerg F., Berry-Kravis, Elizabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10373389/
https://www.ncbi.nlm.nih.gov/pubmed/37495977
http://dx.doi.org/10.1186/s11689-023-09494-w

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