BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake

Open source

DOI: 10.15252/emmm.202013787
Published: 2021-11-15
Container: EMBO Molecular Medicine
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.15252/emmm.202013787,
  title = {BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy},
  author = {Sandra Donkervoort and Niklas Krause and Mykola Dergai and Pomi Yun and Judith Koliwer and Svetlana Gorokhova and Janelle Geist Hauserman and Beryl B Cummings and Ying Hu and Rosemarie Smith and Prech Uapinyoying and Vijay S Ganesh and Partha S Ghosh and Kristin G Monaghan and Seby L Edassery and Pia E Ferle and Sarah Silverstein and Katherine R Chao and Molly Snyder and Sara Ellingwood and Diana Bharucha‐Goebel and Susan T Iannaccone and Matteo Dal Peraro and A Reghan Foley and Jeffrey N Savas and Véronique Bolduc and Dirk Fasshauer and Carsten G Bönnemann and Michael Schwake},
  year = {2021},
  journal = {EMBO Molecular Medicine},
  doi = {10.15252/emmm.202013787},
  url = {https://doi.org/10.15252/emmm.202013787}
}

RIS

TY  - JOUR
TI  - BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
AU  - Sandra Donkervoort
AU  - Niklas Krause
AU  - Mykola Dergai
AU  - Pomi Yun
AU  - Judith Koliwer
AU  - Svetlana Gorokhova
AU  - Janelle Geist Hauserman
AU  - Beryl B Cummings
AU  - Ying Hu
AU  - Rosemarie Smith
AU  - Prech Uapinyoying
AU  - Vijay S Ganesh
AU  - Partha S Ghosh
AU  - Kristin G Monaghan
AU  - Seby L Edassery
AU  - Pia E Ferle
AU  - Sarah Silverstein
AU  - Katherine R Chao
AU  - Molly Snyder
AU  - Sara Ellingwood
AU  - Diana Bharucha‐Goebel
AU  - Susan T Iannaccone
AU  - Matteo Dal Peraro
AU  - A Reghan Foley
AU  - Jeffrey N Savas
AU  - Véronique Bolduc
AU  - Dirk Fasshauer
AU  - Carsten G Bönnemann
AU  - Michael Schwake
PY  - 2021
JO  - EMBO Molecular Medicine
DO  - 10.15252/emmm.202013787
UR  - https://doi.org/10.15252/emmm.202013787
ER  -

APA

Donkervoort, S., Krause, N., Dergai, M., Yun, P., Koliwer, J., Gorokhova, S., Hauserman, J. G., Cummings, B. B., Hu, Y., Smith, R., Uapinyoying, P., Ganesh, V. S., Ghosh, P. S., Monaghan, K. G., Edassery, S. L., Ferle, P. E., Silverstein, S., Chao, K. R., Snyder, M., Ellingwood, S., Bharucha‐Goebel, D., Iannaccone, S. T., Peraro, M. D., Foley, A. R., Savas, J. N., Bolduc, V., Fasshauer, D., Bönnemann, C. G., & Schwake, M. (2021). BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Molecular Medicine. https://doi.org/10.15252/emmm.202013787

Source records

crossref · retrieved 2026-09-25T13:31:14.739Z