Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome by Avagliano Trezza, Rossella, Sonzogni, Monica, Bossuyt, Stijn N. V., Zampeta, F. Isabella, Punt, A. Mattijs, van den Berg, Marlene, Rotaru, Diana C., Koene, Linda M. C., Munshi, Shashini T., Stedehouder, Jeffrey, Kros, Johan M., Williams, Mark, Heussler, Helen, de Vrij, Femke M. S., Mientjes, Edwin J., van Woerden, Geeske M., Kushner, Steven A., Distel, Ben, Elgersma, Ype

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Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations by Bossuyt, Stijn N V, Punt, A Mattijs, de Graaf, Ilona J, van den Burg, Janny, Williams, Mark G, Heussler, Helen, Elgersma, Ype, Distel, Ben

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Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function by Avagliano Trezza, Rossella, Punt, A. Mattijs, Mientjes, Edwin, van den Berg, Marlene, Zampeta, F. Isabella, de Graaf, Ilona J., van der Weegen, Yana, Demmers, Jeroen A. A., Elgersma, Ype, Distel, Ben

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Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology by Pandya, Nikhil J., Wang, Congwei, Costa, Veronica, Lopatta, Paul, Meier, Sonja, Zampeta, F. Isabella, Punt, A. Mattijs, Mientjes, Edwin, Grossen, Philip, Distler, Tania, Tzouros, Manuel, Martí, Yasmina, Banfai, Balazs, Patsch, Christoph, Rasmussen, Soren, Hoener, Marius, Berrera, Marco, Kremer, Thomas, Dunkley, Tom, Ebeling, Martin, Distel, Ben, Elgersma, Ype, Jagasia, Ravi

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Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice by Judson, Matthew C, Shyng, Charles, Simon, Jeremy M, Davis, Courtney R, Punt, A Mattijs, Salmon, Mirabel T, Miller, Noah W, Ritola, Kimberly D, Elgersma, Ype, Amaral, David G, Gray, Steven J, Philpot, Benjamin D

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Molecular and behavioral consequences of Ube3a gene overdosage in mice by Punt, A Mattijs, Judson, Matthew C, Sidorov, Michael S, Williams, Brittany N, Johnson, Naomi S, Belder, Sabine, den Hertog, Dion, Davis, Courtney R, Feygin, Maximillian S, Lang, Patrick F, Jolfaei, Mehrnoush Aghadavoud, Curran, Patrick J, van IJcken, Wilfred Fj, Elgersma, Ype, Philpot, Benjamin D

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P202: Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndrome by Jalazo, Liz, Mathews, Jennifer M., Stelzer, Jalin, Punt, Mattijs, Yi, Jason, Elgersma, Ype, Jalazo, Elizabeth

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A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman... by Geerts‐Haages, Amber, Bossuyt, Stijn N. V., Besten, Inge, Bruggenwirth, Hennie, Burgt, Ineke, Yntema, Helger G., Punt, A. Mattijs, Brooks, Alice, Elgersma, Ype, Distel, Ben, Valstar, Marlies

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A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets by Pandya, Nikhil J., Meier, Sonja, Tyanova, Stefka, Terrigno, Marco, Wang, Congwei, Punt, A. Mattijs, Mientjes, E. J., Vautheny, Audrey, Distel, Ben, Kremer, Thomas, Elgersma, Ype, Jagasia, Ravi

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The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome by Viho, Eva M G, Punt, A Mattijs, Distel, Ben, Houtman, René, Kroon, Jan, Elgersma, Ype, Meijer, Onno C

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A Novel Automated Approach for Improving Standardization of the Marble Burying Test Enables Quantification of Burying Bouts and Activity Characteristics by Wahl, Lucas, Punt, A Mattijs, Arbab, Tara, Willuhn, Ingo, Elgersma, Ype, Badura, Aleksandra

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Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome by Douben, Hannie, Hoogeveen-Westerveld, Marianne, Nellist, Mark, Louwen, Jesse, Haan, Marian Kroos-de, Punt, Mattijs, van Ommeren, Babeth, van Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, van Bever, Yolande, van Vliet, Margreethe, Oostenbrink, Rianne, Saris, Jasper J., Wagner, Anja, van Ierland, Yvette, van Ham, Tjakko, van Minkelen, Rick

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