Results 131 to 140 of about 7,634 (165)

Angelman Syndrome

2017
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the epigenetically imprinted gene UBE3A. It is characterized by severe developmental delay, an ataxic gait disorder, an apparent happy demeanor with frequent smiling or laughing, and severe expressive language impairments.
openaire   +1 more source

Angelman Syndrome

2008
J.L. Banko, E.J. Weeber
openaire   +1 more source

Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse model

Molecular Therapy, 2023
Anna Adhikari, Timothy Fenton, David J Segal   +2 more
exaly  

Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology

Cell Reports Medicine, 2021
Nikhil Janak Pandya, Veronica, Paul Lopatta   +2 more
exaly  

Therapies in preclinical and clinical development for Angelman syndrome

Expert Opinion on Investigational Drugs, 2021
Laurent J Servais, Jessica Duis
exaly  

Angelman Syndrome

2018
Bettini L., Cianci P., Selicorni A.
openaire   +3 more sources

Cas9 gene therapy for Angelman syndrome traps Ube3a-ATS long non-coding RNA

Nature, 2020
Justin M Wolter, Giulia Fragola, Jeremy M Simon   +2 more
exaly  

Uniparental paternal disomy in Angelman's syndrome

Lancet, The, 1991
Jill Clayton-Smith
exaly  

Angelman Syndrome

2016
Donald E. Greydanus, Helen D. Pratt, Marlene Pryson   +2 more
openaire   +1 more source

Towards a therapy for Angelman syndrome by targeting a long non-coding RNA

Nature, 2014
Linyan Meng, Arthur L Beaudet, C Frank Bennett   +2 more
exaly