PUB - Publikationen an der Universität Bielefeld

Alle markieren

• [3]
  

  2021 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2959493

  Donkervoort, 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

  PUB | PDF | DOI | WoS | PubMed | Europe PMC
   
• [2]
  

  2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2932410

  Donkervoort, 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

  PUB | DOI | WoS
   
• [1]
  

  2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916411

  Völker, 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

  PUB | DOI | WoS | PubMed | Europe PMC