Recessive mutations in BET1 and GOSR2 establish Q-SNARE Golgi-vesicle-transport genes as a cause for congenital muscular dystrophy with epilepsy

Donkervoort S, Hu Y, Shieh P, Koliwer J, Tsai L, Cummings B, Snyder M, Chao K, Kaur R, Bharucha-Goebel D, Iannaccone S, et al. (2018)
NEUROMUSCULAR DISORDERS 28(Suppl. 2): S30.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
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Autor*in
Donkervoort, S.; Hu, Y.; Shieh, P.; Koliwer, JudithUniBi; Tsai, L.; Cummings, B.; Snyder, M.; Chao, K.; Kaur, R.; Bharucha-Goebel, D.; Iannaccone, S.; MacArthur, D.
Alle
Erscheinungsjahr
2018
Zeitschriftentitel
NEUROMUSCULAR DISORDERS
Band
28
Ausgabe
Suppl. 2
Art.-Nr.
S30
Konferenz
23rd International Annual Congress of the World-Muscle-Society (WMS)
Konferenzort
Mendoza, ARGENTINA
Konferenzdatum
2018-10-02 – 2018-10-06
ISSN
0960-8966
eISSN
1873-2364
Page URI
https://pub.uni-bielefeld.de/record/2932410

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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.
Donkervoort, S., Hu, Y., Shieh, P., Koliwer, J., Tsai, L., Cummings, B., Snyder, M., et al. (2018). 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), S30. doi:10.1016/j.nmd.2018.06.024
Donkervoort, S., Hu, Y., Shieh, P., Koliwer, Judith, Tsai, L., Cummings, B., Snyder, M., et al. 2018. “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): S30.
Donkervoort, S., Hu, Y., Shieh, P., Koliwer, J., Tsai, L., Cummings, B., Snyder, M., Chao, K., Kaur, R., Bharucha-Goebel, D., et al. (2018). 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:S30.
Donkervoort, S., et al., 2018. 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): S30.
S. Donkervoort, 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, vol. 28, 2018, : S30.
Donkervoort, S., Hu, Y., Shieh, P., Koliwer, J., Tsai, L., Cummings, B., Snyder, M., Chao, K., Kaur, R., Bharucha-Goebel, D., Iannaccone, S., MacArthur, D., Foley, A.R., Schwake, M., Bonnemann, C.: 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, : S30 (2018).
Donkervoort, S., Hu, Y., Shieh, P., Koliwer, Judith, Tsai, L., Cummings, B., Snyder, M., Chao, K., Kaur, R., Bharucha-Goebel, D., Iannaccone, S., MacArthur, D., Foley, A. R., Schwake, Michael, and Bonnemann, C. “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): S30.
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