Results 121 to 130 of about 9,448 (189)

An Angelman syndrome substitution in the HECT E3 ubiquitin ligase C-terminal Lobe of E6AP affects protein stability and activity

, 2020
Steven Beasley, Chloe E. Kellum, Rachel J. Orlomoski, Feston Idrizi, Donald E. Spratt   +4 more
openalex   +1 more source

Courtship and distress ultrasonic vocalizations are altered in a mouse model of Angelman syndrome. [PDF]

J Neurodev Disord
Guoynes CD, Pavalko G, Sidorov MS.
europepmc   +1 more source

Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

, 2019
Michael S. Sidorov, Gina Deck
openalex   +1 more source

Assessment of Dysphagia in Chinese Cohort of Angelman Syndrome: An Observational Study. [PDF]

CNS Neurosci Ther
Chen Y, Wang Y, Zhang Y, Wang J, Du X, Wang T, Wang Y, Zhou H.   +7 more
europepmc   +1 more source

Cell Type-Specific Contributions of UBE3A to Angelman Syndrome Behavioral Phenotypes. [PDF]

eNeuro
Ringelberg NW, Mayfield RE, Lord JS, Diering GH, Burette AC, Philpot BD.   +5 more
europepmc   +1 more source

An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study [PDF]

, 2019
Nasreen Khan, Raquel Cabo, Wen‐Hann Tan, Regina Tayag, Lynne M. Bird   +4 more
openalex   +1 more source

Oral health care of people with Angelman syndrome in Germany - a questionnaire-based study. [PDF]

BMC Oral Health
Schmidt P, Tantzen C, Fricke O, Schulte AG.   +3 more
europepmc   +1 more source

Efficacy and tolerability of a low-glycemic-index ketogenic diet in Angelman syndrome: findings from the DIANE study. [PDF]

Orphanet J Rare Dis
Iglesias Escalera G, Cazorla Calleja R, Lorenzo Ruiz M, Lara Herguedas J, Gutiérrez Junquera C, Cilleruelo Pascual ML, Caballero-Bermejo AF, Roman-Riechmann E, Pascual Pascual SI, Ruiz-Antorán B, DIANE Study Group.   +10 more
europepmc   +1 more source

A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 15. [PDF]

Hum Cell
Cazaux Mateus F, Camões Dos Santos J, Arez M, Bekman EP, da Rocha ST.   +4 more
europepmc   +1 more source

Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3

, 2010
Yong‐hui Jiang, Yanzhen Pan, Li Zhu, Luis Landa, Jong W. Yoo, Corinne M. Spencer, Isabel Lorenzo, Murray H. Brilliant, Jeffrey L. Noebels, Arthur L. Beaudet   +9 more
openalex   +2 more sources