PUB - Publikationen an der Universität Bielefeld

Alle markieren

• [3]
  

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

  Donkervoort, Sandra, Krause, Niklas, Dergai, Mykola, Yun, Pomi, Koliwer, Judith, Gorokhova, Svetlana, Hauserman, Janelle Geist, Cummings, Beryl B., Hu, Ying, Smith, Rosemarie, Uapinyoying, Prech, Ganesh, Vijay S., Ghosh, Partha S., Monaghan, Kristin G., Edassery, Seby L., Ferle, Pia, Silverstein, Sarah, Chao, Katherine R., Snyder, Molly, Ellingwood, Sara, Bharucha-Goebel, Diana, Iannaccone, Susan T., Dal Peraro, Matteo, Foley, A. Reghan, Savas, Jeffrey N., Bolduc, Veronique, Fasshauer, Dirk, Bonnemann, Carsten G., and Schwake, Michael. “BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy”. EMBO Molecular Medicine (2021): e13787.

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

  2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2932410

  Donkervoort, S., Hu, Y., Shieh, P., Koliwer, Judith, Tsai, L., Cummings, B., Snyder, M., Chao, K., Kaur, R., Bharucha-Goebel, D., Iannaccone, S., MacArthur, D., Foley, A. R., Schwake, Michael, and Bonnemann, C. “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 (2018): S30.

  PUB | DOI | WoS
   
• [1]
  

  2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916411

  Völker, Jörn Michael, Dergai, Mykola, Abriata, Luciano A., Mingard, Yves, Ysselstein, Daniel, Krainc, Dimitri, Dal Peraro, Matteo, Fischer von Mollard, Gabriele, Fasshauer, Dirk, Koliwer, Judith, and Schwake, Michael. “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 (2017): 1391-1398.

  PUB | DOI | WoS | PubMed | Europe PMC