PUB - Publikationen an der Universität Bielefeld

Judith Koliwer

PEVZ-ID

[3]

2021 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2959493
S. Donkervoort, et al., “BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy”, EMBO Molecular Medicine , 2021, : e13787.
PUB | PDF | DOI | WoS | PubMed | Europe PMC
[2]

2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2932410
S. Donkervoort, et al., “Recessive mutations in BET1 and GOSR2 establish Q-SNARE Golgi-vesicle-transport genes as a cause for congenital muscular dystrophy with epilepsy”, NEUROMUSCULAR DISORDERS, vol. 28, 2018, : S30.
PUB | DOI | WoS
[1]

2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916411
J.M. Völker, et al., “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, vol. 10, 2017, pp. 1391-1398.
PUB | DOI | WoS | PubMed | Europe PMC