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pro vyhledávání: '"Philippe Mesidor"'
Autor:
Austin W. Nenninger, Matthew Willman, Jonathan Willman, Emma Stewart, Philippe Mesidor, Michelle Novoa, Nicole K Morrill, Luis Alvarez, Aurélie Joly-Amado, Melinda M. Peters, Danielle Gulick, Kevin R. Nash
Publikováno v:
Neurotherapeutics
The rare genetic neurodevelopmental disease Angelman syndrome (AS) is caused by the loss of function of UBE3A, a ubiquitin ligase. The disease results in a lifetime of severe symptoms, including intellectual disability and motor impairments for which