Search Results - Bossuyt, Stijn N V

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  1. 1
    Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome

    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

    Published in Nature neuroscience
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  2. 2
    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

    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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  3. 3
    Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations

    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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