A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides

V. Bolduc; A. Foley; S. Donkervoort; Y. Hu; B. Cummings; M. Lek; A. Sarathy; K. Sizov; H. Degefa; R. Wagener; G. Hennig; E. Hanssen; S. Lamande; F. Muntoni; S. Wilton; D. MacArthur; C. Bonnemann

doi:10.1016/j.nmd.2017.06.304

A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides

V. Bolduc, A. Foley, S. Donkervoort, Y. Hu, B. Cummings, M. Lek, A. Sarathy, K. Sizov, H. Degefa, R. Wagener, G. Hennig, E. Hanssen, S. Lamande, F. Muntoni, S. Wilton, D. MacArthur, 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)	S177-S177
Number of pages	1
Journal	Neuromuscular Disorders
Volume	27
DOIs	https://doi.org/10.1016/j.nmd.2017.06.304
Publication status	Published - Oct 2017
Event	22nd International Annual Congress of the World-Muscle-Society (WMS) - Saint Malo, France Duration: 3 Oct 2017 → 7 Oct 2017

Access to Document

10.1016/j.nmd.2017.06.304

Cite this

Bolduc, V., Foley, A., Donkervoort, S., Hu, Y., Cummings, B., Lek, M., Sarathy, A., Sizov, K., Degefa, H., Wagener, R., Hennig, G., Hanssen, E., Lamande, S., Muntoni, F., Wilton, S., MacArthur, D., & Bonnemann, C. (2017). A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides. Neuromuscular Disorders, 27, S177-S177. https://doi.org/10.1016/j.nmd.2017.06.304

Bolduc, V. ; Foley, A. ; Donkervoort, S. ; Hu, Y. ; Cummings, B. ; Lek, M. ; Sarathy, A. ; Sizov, K. ; Degefa, H. ; Wagener, R. ; Hennig, G. ; Hanssen, E. ; Lamande, S. ; Muntoni, F. ; Wilton, S. ; MacArthur, D. ; Bonnemann, C. / A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides. In: Neuromuscular Disorders. 2017 ; Vol. 27. pp. S177-S177.

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title = "A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides",

author = "V. Bolduc and A. Foley and S. Donkervoort and Y. Hu and B. Cummings and M. Lek and A. Sarathy and K. Sizov and H. Degefa and R. Wagener and G. Hennig and E. Hanssen and S. Lamande and F. Muntoni and S. Wilton and D. MacArthur and C. Bonnemann",

year = "2017",

month = oct,

doi = "10.1016/j.nmd.2017.06.304",

language = "English",

volume = "27",

pages = "S177--S177",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Pergamon",

note = "22nd International Annual Congress of the World-Muscle-Society (WMS) ; Conference date: 03-10-2017 Through 07-10-2017",

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Bolduc, V, Foley, A, Donkervoort, S, Hu, Y, Cummings, B, Lek, M, Sarathy, A, Sizov, K, Degefa, H, Wagener, R, Hennig, G, Hanssen, E, Lamande, S, Muntoni, F, Wilton, S, MacArthur, D & Bonnemann, C 2017, 'A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides', Neuromuscular Disorders, vol. 27, pp. S177-S177. https://doi.org/10.1016/j.nmd.2017.06.304

A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides. / Bolduc, V.; Foley, A.; Donkervoort, S.; Hu, Y.; Cummings, B.; Lek, M.; Sarathy, A.; Sizov, K.; Degefa, H.; Wagener, R.; Hennig, G.; Hanssen, E.; Lamande, S.; Muntoni, F.; Wilton, S.; MacArthur, D.; Bonnemann, C.

In: Neuromuscular Disorders, Vol. 27, 10.2017, p. S177-S177.

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

TY - JOUR

T1 - A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides

AU - Bolduc, V.

AU - Foley, A.

AU - Donkervoort, S.

AU - Hu, Y.

AU - Cummings, B.

AU - Lek, M.

AU - Sarathy, A.

AU - Sizov, K.

AU - Degefa, H.

AU - Wagener, R.

AU - Hennig, G.

AU - Hanssen, E.

AU - Lamande, S.

AU - Muntoni, F.

AU - Wilton, S.

AU - MacArthur, D.

AU - Bonnemann, C.

PY - 2017/10

Y1 - 2017/10

U2 - 10.1016/j.nmd.2017.06.304

DO - 10.1016/j.nmd.2017.06.304

M3 - Abstract/Meeting Abstract

VL - 27

SP - S177-S177

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

T2 - 22nd International Annual Congress of the World-Muscle-Society (WMS)

Y2 - 3 October 2017 through 7 October 2017

ER -