Showing 1 - 6 results of 6 for search 'Mattijs Punt', query time: 0.03s
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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 Amber Geerts‐Haages, Stijn N. V. Bossuyt, Inge denBesten, Hennie Bruggenwirth, Ineke van derBurgt, Helger G. Yntema, A. Mattijs Punt, Alice Brooks, Ype Elgersma, Ben Distel, Marlies Valstar
Published 2020-11-01
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Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function by Rossella Avagliano Trezza, A. Mattijs Punt, Edwin Mientjes, Marlene van den Berg, F. Isabella Zampeta, Ilona J. de Graaf, Yana van der Weegen, Jeroen A. A. Demmers, Ype Elgersma, Ben Distel
Published 2021-02-01
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Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice by Matthew C. Judson, Charles Shyng, Jeremy M. Simon, Courtney R. Davis, A. Mattijs Punt, Mirabel T. Salmon, Noah W. Miller, Kimberly D. Ritola, Ype Elgersma, David G. Amaral, Steven J. Gray, Benjamin D. Philpot
Published 2021-10-01
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Molecular and behavioral consequences of Ube3a gene overdosage in mice by A. Mattijs Punt, Matthew C. Judson, Michael S. Sidorov, Brittany N. Williams, Naomi S. Johnson, Sabine Belder, Dion den Hertog, Courtney R. Davis, Maximillian S. Feygin, Patrick F. Lang, Mehrnoush Aghadavoud Jolfaei, Patrick J. Curran, Wilfred F.J. van IJcken, Ype Elgersma, Benjamin D. Philpot
Published 2022-09-01
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