Rupleen Kaur

MD/PhD Student | Case Western Reserve University

NEW GENES, FUNCTIONS AND BIOMARKERS O.1Recessive mutations in BET1 and GOSR2 establish Q-SNARE Golgi-vesicle-transport genes as a cause for congenital muscular dystrophy with epilepsy


Journal article


S. Donkervoort, Y. Hu, P. Shieh, J. Koliwer, L. Tsai, B. Cummings, M. Snyder, K. Chao, R. Kaur, D. Bharucha-Goebel, S. Iannaccone, D. Macarthur, A. Foley, M. Schwake, C. Bönnemann
Neuromuscular Disorders, 2018

Semantic Scholar DOI
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APA   Click to copy
Donkervoort, S., Hu, Y., Shieh, P., Koliwer, J., Tsai, L., Cummings, B., … Bönnemann, C. (2018). NEW GENES, FUNCTIONS AND BIOMARKERS O.1Recessive mutations in BET1 and GOSR2 establish Q-SNARE Golgi-vesicle-transport genes as a cause for congenital muscular dystrophy with epilepsy. Neuromuscular Disorders.


Chicago/Turabian   Click to copy
Donkervoort, S., Y. Hu, P. Shieh, J. Koliwer, L. Tsai, B. Cummings, M. Snyder, et al. “NEW GENES, FUNCTIONS AND BIOMARKERS O.1Recessive Mutations in BET1 and GOSR2 Establish Q-SNARE Golgi-Vesicle-Transport Genes as a Cause for Congenital Muscular Dystrophy with Epilepsy.” Neuromuscular Disorders (2018).


MLA   Click to copy
Donkervoort, S., et al. “NEW GENES, FUNCTIONS AND BIOMARKERS O.1Recessive Mutations in BET1 and GOSR2 Establish Q-SNARE Golgi-Vesicle-Transport Genes as a Cause for Congenital Muscular Dystrophy with Epilepsy.” Neuromuscular Disorders, 2018.


BibTeX   Click to copy

@article{s2018a,
  title = {NEW GENES, FUNCTIONS AND BIOMARKERS O.1Recessive mutations in BET1 and GOSR2 establish Q-SNARE Golgi-vesicle-transport genes as a cause for congenital muscular dystrophy with epilepsy},
  year = {2018},
  journal = {Neuromuscular Disorders},
  author = {Donkervoort, S. and Hu, Y. and Shieh, P. and Koliwer, J. and Tsai, L. and Cummings, B. and Snyder, M. and Chao, K. and Kaur, R. and Bharucha-Goebel, D. and Iannaccone, S. and Macarthur, D. and Foley, A. and Schwake, M. and Bönnemann, C.}
}


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