3 Publikationen
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2021 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2959493Donkervoort, S., Krause, N., Dergai, M., Yun, P., Koliwer, J., Gorokhova, S., Hauserman, J. G., Cummings, B. B., Hu, Y., Smith, R., et al. (2021). BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Molecular Medicine :e13787.PUB | PDF | DOI | WoS | PubMed | Europe PMC
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2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2932410Donkervoort, S., Hu, Y., Shieh, P., Koliwer, J., Tsai, L., Cummings, B., Snyder, M., Chao, K., Kaur, R., Bharucha-Goebel, D., 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:S30.PUB | DOI | WoS
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2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916411Völker, J. M., Dergai, M., Abriata, L. A., Mingard, Y., Ysselstein, D., Krainc, D., Dal Peraro, M., Fischer von Mollard, G., Fasshauer, D., Koliwer, J., 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, 1391-1398.PUB | DOI | WoS | PubMed | Europe PMC