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Angelman Syndrome
Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.
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Proceedings of the National Academy of Sciences of the United States of America
Andrew A PieperS L McKnight
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Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome
(opens in new tab)Human Genetics
Evmorfia TzagkarakiKanavakis Emmanuel
Nature Structural Biology
G MuscoA Pastore