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Cancer Research|October 7, 2004
Pancreatic insulinomas in multiple endocrine neoplasia, type I knockout mice can develop in the absence of chromosome instability or microsatellite instabilityPeter C Scacheri, Alyssa L Kennedy, Koei Chin, et al.Plos One|February 22, 2019
Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-functionJean J Kim, Jeffrey N Savas, Meghan T Miller, et al.Child Psychiatry and Human Development|September 4, 2020
Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept ModelTom Willgoss, Daiana Cassater, Siobhan Connor, et al.JCI Insight|August 9, 2021
Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse modelClaudia Milazzo, Edwin J Mientjes, Ilse Wallaard, et al.Molecular Therapy. Nucleic Acids|May 20, 2022
AntimiR targeting of microRNA-134 reduces seizures in a mouse model of Angelman syndromeAoife Campbell, Gareth Morris, Albert Sanfeliu, et al.Biological Psychiatry|March 4, 2019
Electrophysiological Phenotype in Angelman Syndrome Differs Between GenotypesJoel Frohlich, Meghan T Miller, Lynne M Bird, et al.Elife|March 14, 2020
Agonist-mediated switching of ion selectivity in TPC2 differentially promotes lysosomal functionSusanne Gerndt, Cheng-Chang Chen, Yu-Kai Chao, et al.Nucleic Acids Research|August 30, 2025
Angelman syndrome patient-derived neuron screen leads to clinical ASO rugonersen targeting UBE3A-ATS with long-lasting effect in monkeysRavi Jagasia, Charlotte Bon, Soren V Rasmussen, et al.Journal of Neurodevelopmental Disorders|July 26, 2023
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)Jorrit Tjeertes, Carlos A Bacino, Terry Jo Bichell, et al.Pageof 2