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 JG, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, Ferle P, Silverstein S, Chao KR, Snyder M, Ellingwood S, Bharucha-Goebel D, Iannaccone ST, Dal Peraro M, Foley AR, Savas JN, Bolduc V, Fasshauer D, Bonnemann CG, Schwake M (2021)PUB | PDF | DOI | WoS | PubMed | Europe PMC
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
EMBO Molecular Medicine : e13787. -
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 AR, Schwake M, Bonnemann C (2018)PUB | DOI | WoS
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. -
2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916411Völker 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)PUB | DOI | WoS | PubMed | Europe PMC
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.