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Journal of Clinical Medicine|September 28, 2023
Hyperphagia, Growth, and Puberty in Children with Angelman SyndromeKaren G C B Bindels-de Heus, Doesjka A Hagenaar, Ilonka Dekker, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|October 21, 2005
Modulation of presynaptic plasticity and learning by the H-ras/extracellular signal-regulated kinase/synapsin I signaling pathwaySteven A Kushner, Ype Elgersma, Geoffrey G Murphy, et al.Nature Communications|August 29, 2025
UBE3A promotes foam cell formation and counters remyelination by targeting ABCA1 for proteasomal degradationMelanie Loix, Sam Vanherle, Laura Bolkaerts, et al.American Journal of Medical Genetics. Part A|November 16, 2019
An overview of health issues and development in a large clinical cohort of children with Angelman syndromeKaren G C B Bindels-de Heus, Sabine E Mous, Maartje Ten Hooven-Radstaake, et al.American Journal of Medical Genetics. Part A|July 24, 2012
The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational researchMaria T Acosta, Carrie E Bearden, F Xavier Castellanos, et al.JCI Insight|September 22, 2022
Molecular and behavioral consequences of Ube3a gene overdosage in miceA Mattijs Punt, Matthew C Judson, Michael S Sidorov, et al.JAMA|July 18, 2008
Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trialLianne C Krab, Arja de Goede-Bolder, Femke K Aarsen, et al.Cell Reports. Medicine|September 1, 2021
Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiologyNikhil J Pandya, Congwei Wang, Veronica Costa, et al.Aging Cell|January 23, 2021
Unlike dietary restriction, rapamycin fails to extend lifespan and reduce transcription stress in progeroid DNA repair-deficient miceMaría B Birkisdóttir, Dick Jaarsma, Renata M C Brandt, et al.Nature Neuroscience|June 26, 2019
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndromeRossella Avagliano Trezza, Monica Sonzogni, Stijn N V Bossuyt, et al.Pageof 13