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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Geist Hauserman J, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, Ferle PE, Silverstein S, Chao KR, Snyder M, Ellingwood S, Bharucha-Goebel D, Iannaccone ST, Dal Peraro M, Foley AR, Savas JN, Bolduc V, Fasshauer D, Bönnemann CG, Schwake M. Donkervoort S, et al. Among authors: dal peraro m. EMBO Mol Med. 2021 Dec 7;13(12):e13787. doi: 10.15252/emmm.202013787. Epub 2021 Nov 15. EMBO Mol Med. 2021. PMID: 34779586 Free PMC article.
Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.
Völker JM, Dergai M, Abriata LA, Mingard Y, Ysselstein D, Krainc D, Dal Peraro M, Fischer von Mollard G, Fasshauer D, Koliwer J, Schwake M. Völker JM, et al. Among authors: dal peraro m. Dis Model Mech. 2017 Dec 19;10(12):1391-1398. doi: 10.1242/dmm.029132. Dis Model Mech. 2017. PMID: 28982678 Free PMC article.
115 results