3 Publikationen
-
2021 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2959493Donkervoort, S., Krause, N., Dergai, M., Yun, P., Koliwer, J., Gorokhova, S., Hauserman, J. G., et al. (2021). BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Molecular Medicine , e13787. https://doi.org/10.15252/emmm.202013787
-
2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2932410Donkervoort, S., Hu, Y., Shieh, P., Koliwer, J., Tsai, L., Cummings, B., Snyder, M., et al. (2018). Recessive mutations in BET1 and GOSR2 establish Q-SNARE Golgi-vesicle-transport genes as a cause for congenital muscular dystrophy with epilepsy. NEUROMUSCULAR DISORDERS, 28(Suppl. 2), S30. doi:10.1016/j.nmd.2018.06.024
-
2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916411Völker, J. M., Dergai, M., Abriata, L. A., Mingard, Y., Ysselstein, D., Krainc, D., Dal Peraro, M., et al. (2017). Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies. DISEASE MODELS & MECHANISMS, 10(12), 1391-1398. doi:10.1242/dmm.029132