A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophy

V. Bolduc; A. Foley; H. Solomon Degefa; A. Sarathy; S. Donkervoort; Y. Hu; H. Zhou; B. Cummings; M. Lek; O. Regev; C. Jimenez-Mallebrera; V. Allamand; A. Ferlini; S. Wilton; E. Hanssen; S. Lamande; D. MacArthur; R. Wagener; F. Muntoni; C. Bonnemann

doi:10.1016/j.nmd.2019.06.028

A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophy

V. Bolduc, A. Foley, H. Solomon Degefa, A. Sarathy, S. Donkervoort, Y. Hu, H. Zhou, B. Cummings, M. Lek, O. Regev, C. Jimenez-Mallebrera, V. Allamand, A. Ferlini, S. Wilton, E. Hanssen, S. Lamande, D. MacArthur, R. Wagener, F. Muntoni, C. Bonnemann

Centre for Neuromuscular and Neurological Disorders (Perron Institute)

Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review

Original language	English
Pages (from-to)	S40-S41
Number of pages	2
Journal	Neuromuscular Disorders
Volume	29
DOIs	https://doi.org/10.1016/j.nmd.2019.06.028
Publication status	Published - Oct 2019
Event	24th International Annual Congress of the World-Muscle-Society (WMS) - Copenhagen, Denmark Duration: 1 Oct 2019 → 5 Oct 2019

Access to Document

10.1016/j.nmd.2019.06.028

Cite this

Bolduc, V., Foley, A., Degefa, H. S., Sarathy, A., Donkervoort, S., Hu, Y., Zhou, H., Cummings, B., Lek, M., Regev, O., Jimenez-Mallebrera, C., Allamand, V., Ferlini, A., Wilton, S., Hanssen, E., Lamande, S., MacArthur, D., Wagener, R., Muntoni, F., & Bonnemann, C. (2019). A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophy. Neuromuscular Disorders, 29, S40-S41. https://doi.org/10.1016/j.nmd.2019.06.028

@article{2608e77dfed04043bde1b55fc3cd7040,

title = "A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophy",

author = "V. Bolduc and A. Foley and Degefa, {H. Solomon} and A. Sarathy and S. Donkervoort and Y. Hu and H. Zhou and B. Cummings and M. Lek and O. Regev and C. Jimenez-Mallebrera and V. Allamand and A. Ferlini and S. Wilton and E. Hanssen and S. Lamande and D. MacArthur and R. Wagener and F. Muntoni and C. Bonnemann",

year = "2019",

month = oct,

doi = "10.1016/j.nmd.2019.06.028",

language = "English",

volume = "29",

pages = "S40--S41",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Pergamon",

note = "24th International Annual Congress of the World-Muscle-Society (WMS) ; Conference date: 01-10-2019 Through 05-10-2019",

}

Bolduc, V, Foley, A, Degefa, HS, Sarathy, A, Donkervoort, S, Hu, Y, Zhou, H, Cummings, B, Lek, M, Regev, O, Jimenez-Mallebrera, C, Allamand, V, Ferlini, A, Wilton, S, Hanssen, E, Lamande, S, MacArthur, D, Wagener, R, Muntoni, F & Bonnemann, C 2019, 'A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophy', Neuromuscular Disorders, vol. 29, pp. S40-S41. https://doi.org/10.1016/j.nmd.2019.06.028

TY - JOUR

T1 - A novel target for splice-modulating therapies

T2 - 24th International Annual Congress of the World-Muscle-Society (WMS)

AU - Bolduc, V.

AU - Foley, A.

AU - Degefa, H. Solomon

AU - Sarathy, A.

AU - Donkervoort, S.

AU - Hu, Y.

AU - Zhou, H.

AU - Cummings, B.

AU - Lek, M.

AU - Regev, O.

AU - Jimenez-Mallebrera, C.

AU - Allamand, V.

AU - Ferlini, A.

AU - Wilton, S.

AU - Hanssen, E.

AU - Lamande, S.

AU - MacArthur, D.

AU - Wagener, R.

AU - Muntoni, F.

AU - Bonnemann, C.

PY - 2019/10

Y1 - 2019/10

U2 - 10.1016/j.nmd.2019.06.028

DO - 10.1016/j.nmd.2019.06.028

M3 - Abstract/Meeting Abstract

SN - 0960-8966

VL - 29

SP - S40-S41

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

Y2 - 1 October 2019 through 5 October 2019

ER -