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., Cummings, B.B., Hu, Y., Smith, R., Uapinyoying, P., Ganesh, V.S., Ghosh, P.S., Monaghan, K.G., Edassery, S.L., Ferle, P., Silverstein, S., Chao, K.R., Snyder, M., Ellingwood, S., Bharucha-Goebel, D., Iannaccone, S.T., Dal Peraro, M., Foley, A.R., Savas, J.N., Bolduc, V., Fasshauer, D., Bonnemann, C.G. & Schwake, M. (2021). BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Molecular Medicine : e13787. Wiley. doi: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., Chao, K., Kaur, R., Bharucha-Goebel, D., Iannaccone, S., MacArthur, D., Foley, A.R., Schwake, M. & Bonnemann, C. (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. Gehalten auf der 23rd International Annual Congress of the World-Muscle-Society (WMS), Elsevier. 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., Fischer von Mollard, G., Fasshauer, D., Koliwer, J. & Schwake, M. (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. Company Of Biologists Ltd. doi:10.1242/dmm.029132.

  PUB | DOI | WoS | PubMed | Europe PMC