Ben Distel
5PUBLICATIONS
20CO-AUTHORS
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Publications (5)
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|Feb 19, 2021
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.Stijn N V Bossuyt, A Mattijs Punt, Ilona J de Graaf
|Feb 10, 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.Geeske M van Woerden, Melanie Bos, Charlotte de Konink
|Feb 05, 2021
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.Rossella Avagliano Trezza, A Mattijs Punt, Edwin Mientjes
|Sep 05, 2020
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 syndrome.Amber Geerts-Haages, Stijn N V Bossuyt, Inge den Besten
|Jun 26, 2019
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.Rossella Avagliano Trezza, Monica Sonzogni, Stijn N V Bossuyt
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Frequent Collaborators
4 joint publications
Ype Elgersma
3 joint publications
A Mattijs Punt
2 joint publications
Stijn N V Bossuyt
2 joint publications
Mark Williams
2 joint publications
Rossella Avagliano Trezza
1 joint publications
Monica Sonzogni
1 joint publications
Diana C Rotaru
1 joint publications
Femke M S de Vrij
1 joint publications
Steven A Kushner
1 joint publications
F Isabella Zampeta
