PUB - Publikationen an der Universität Bielefeld

Judith Koliwer

PEVZ-ID

[3]

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

2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2932410
Donkervoort, S., et al., 2018. 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.
PUB | DOI | WoS
[1]

2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916411
Völker, J.M., et al., 2017. 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), p 1391-1398.
PUB | DOI | WoS | PubMed | Europe PMC