3 Publikationen
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2021 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2959493BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsyPUB | PDF | DOI | WoS | PubMed | Europe PMC
Donkervoort, Sandra, BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Molecular Medicine (). , 2021 -
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., 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). , 2018 -
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, Jörn Michael, 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). , 2017