3 Publikationen
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2021 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2959493Donkervoort, 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
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2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2932410Donkervoort, 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
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2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916411Völker, 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