3 Publikationen
-
2021 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2959493
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsyPUB | PDF | DOI | WoS | PubMed | Europe PMC
Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Hauserman JG, Cummings BB, Hu Y, Smith R, Uapinyoying P, et al. (2021)
EMBO Molecular Medicine : e13787. -
2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2932410Recessive mutations in BET1 and GOSR2 establish Q-SNARE Golgi-vesicle-transport genes as a cause for congenital muscular dystrophy with epilepsyPUB | DOI | WoS
Donkervoort S, Hu Y, Shieh P, Koliwer J, Tsai L, Cummings B, Snyder M, Chao K, Kaur R, Bharucha-Goebel D, Iannaccone S, et al. (2018)
NEUROMUSCULAR DISORDERS 28(Suppl. 2): S30. -
2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916411Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsiesPUB | DOI | WoS | PubMed | Europe PMC
Völker JM, Dergai M, Abriata LA, Mingard Y, Ysselstein D, Krainc D, Dal Peraro M, Fischer von Mollard G, Fasshauer D, Koliwer J, Schwake M (2017)
DISEASE MODELS & MECHANISMS 10(12): 1391-1398.