Angelman syndrome 2005: Updated consensus for diagnostic criteria

By C. Williams, A. Beaudet, J. Clayton-Smith, J. Knoll, M. Kyllerman, L. Laan, R. Magenis, A. Moncla, A. Schinzel, J. Summers and 1 more. American Journal of Medical Genetics. Part A, 2006

596 citations recorded by the source corpus.

Subfields: Genetics

View Paper: https://www.semanticscholar.org/paper/2df77af9840173eca8fb8a3ac3eb9fbc1f965a2e

Citations in the corpus

• The Angelman Syndrome-associated ubiquitin ligase Ube3A regulates synapse development by ubiquitinating Arc (2010, unknown): “One clue as to how Ube3A might function in nervous system development comes from the observation that the symptoms of AS and ASDs first become apparent within the first years of a child’s life (Williams et al., 2006), during which sensory experiences play a key role in shaping neuronal connectivity.”
• Modelling learning and memory in Drosophila to understand Intellectual Disabilities. (2020, unknown): “Mutations in UBE3A cause many of the characteristic features of Angelman syndrome (AS) (OMIM #105830) such as severe mental disability, fits of laughter, epilepsy, ataxia and specific dysmorphic features (Williams et al., 2006) and Table 1.”