PUB - Publikationen an der Universität Bielefeld

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  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

  PUB | PDF | DOI | WoS | PubMed | Europe PMC
   
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  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

  PUB | DOI | WoS
   
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  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.

  PUB | DOI | WoS | PubMed | Europe PMC