PUB - Publikationen an der Universität Bielefeld

Alle markieren

• [3]
  

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

  S. Donkervoort, N. Krause, M. Dergai, P. Yun, J. Koliwer, S. Gorokhova, J. G. Hauserman, B. B. Cummings, Y. Hu, R. Smith, et al., “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

  S. Donkervoort, Y. Hu, P. Shieh, J. Koliwer, L. Tsai, B. Cummings, M. Snyder, K. Chao, R. Kaur, D. Bharucha-Goebel, et al., “Recessive mutations in BET1 and GOSR2 establish Q-SNARE Golgi-vesicle-transport genes as a cause for congenital muscular dystrophy with epilepsy”, NEUROMUSCULAR DISORDERS, 2018, 28, : S30.

  PUB | DOI | WoS
   
• [1]
  

  2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916411

  J. M. Völker, M. Dergai, L. A. Abriata, Y. Mingard, D. Ysselstein, D. Krainc, M. Dal Peraro, G. Fischer von Mollard, D. Fasshauer, J. Koliwer, et al., “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, 2017, 10, 1391-1398.

  PUB | DOI | WoS | PubMed | Europe PMC