3 Publikationen

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  • [3]
    2021 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2959493 OA
    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.: BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Molecular Medicine . : e13787 (2021).
    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.: 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, : S30 (2018).
    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.: 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, 1391-1398 (2017).
    PUB | DOI | WoS | PubMed | Europe PMC
     

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