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2019
Bolduc, Veronique, Foley, A. Reghan, Solomon-Degefa, Herimela, Sarathy, Apurva, Donkervoort, Sandra, Hu, Ying, Chen, Grace S., Sizov, Katherine, Nalls, Matthew, Zhou, Haiyan 
ORCID: 0000-0001-8440-3074, Aguti, Sara, Cummings, Beryl B., Lek, Monkol, Tukiainen, Taru, Marshall, Jamie L., Regev, Oded, Marek-Yagel, Dina, Sarkozy, Anna, Butterfield, Russell J., Jou, Cristina, Jimenez-Mallebrera, Cecilia ORCID: 0000-0001-8203-7103, Li, Yan, Gartioux, Corine, Mamchaoui, Kamel, Allamand, Valerie, Gualandi, Francesca, Ferlini, Alessandra, Hanssen, Eric ORCID: 0000-0002-4064-1844, Wilton, Steve D., Lamande, Shireen R., MacArthur, Daniel G., Wagener, Raimund, Muntoni, Francesco and Bonnemann, Carsten G.
(2019).
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
JCI Insight, 4 (6).
ANN ARBOR:
AMER SOC CLINICAL INVESTIGATION INC.
ISSN 2379-3708
2017
Bolduc, Veronique, Foley, A. Reghan, Donkervoort, Sandra, Hu, Ying, Cummings, Beryl B., Lek, Monkol, Sarathy, Apurva, Sizov, Katherine, Degefa, Herimela Solomon, Wagener, Raimund, Hennig, Grant W., Hanssen, Eric, Lamande, Shireen R., Muntoni, Francesco, Wilton, Steve D., MacArthur, Daniel G. and Bonnemann, Carsten G. (2017). A Dominant-Negative COL6A1 Pseudoexon Insertion Is Skippable Using Splice-Modulating Oligonucleotides. Mol. Ther., 25 (5). S. 119 - 121. CAMBRIDGE: CELL PRESS. ISSN 1525-0024