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Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.
Avagliano Trezza R, Sonzogni M, Bossuyt SNV, Zampeta FI, Punt AM, van den Berg M, Rotaru DC, Koene LMC, Munshi ST, Stedehouder J, Kros JM, Williams M, Heussler H, de Vrij FMS, Mientjes EJ, van Woerden GM, Kushner SA, Distel B, Elgersma Y. Avagliano Trezza R, et al. Among authors: elgersma y. Nat Neurosci. 2019 Aug;22(8):1235-1247. doi: 10.1038/s41593-019-0425-0. Epub 2019 Jun 24. Nat Neurosci. 2019. PMID: 31235931
Effects of antiepileptic drugs in a new TSC/mTOR-dependent epilepsy mouse model.
Koene LMC, van Grondelle SE, Proietti Onori M, Wallaard I, Kooijman NHRM, van Oort A, Schreiber J, Elgersma Y. Koene LMC, et al. Among authors: elgersma y. Ann Clin Transl Neurol. 2019 Jul;6(7):1273-1291. doi: 10.1002/acn3.50829. Epub 2019 Jun 24. Ann Clin Transl Neurol. 2019. PMID: 31353861 Free PMC article.
Angelman Syndrome: From Mouse Models to Therapy.
Rotaru DC, Mientjes EJ, Elgersma Y. Rotaru DC, et al. Among authors: elgersma y. Neuroscience. 2020 Oct 1;445:172-189. doi: 10.1016/j.neuroscience.2020.02.017. Epub 2020 Feb 21. Neuroscience. 2020. PMID: 32088294 Free article. Review.
Molecular and behavioral consequences of Ube3a gene overdosage in mice.
Punt AM, Judson MC, Sidorov MS, Williams BN, Johnson NS, Belder S, den Hertog D, Davis CR, Feygin MS, Lang PF, Jolfaei MA, Curran PJ, van IJcken WF, Elgersma Y, Philpot BD. Punt AM, et al. Among authors: elgersma y. JCI Insight. 2022 Sep 22;7(18):e158953. doi: 10.1172/jci.insight.158953. JCI Insight. 2022. PMID: 36134658 Free PMC article.
170 results