PUB - Publikationen an der Universität Bielefeld

Judith Koliwer

PEVZ-ID

[3]

2021 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2959493
Donkervoort S, Krause N, Dergai M, 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
Donkervoort S, Hu Y, Shieh P, 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. 2018;28(Suppl. 2): S30.
PUB | DOI | WoS
[1]

2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916411
Völker JM, Dergai M, Abriata LA, 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. 2017;10(12):1391-1398.
PUB | DOI | WoS | PubMed | Europe PMC