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Journal Article
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
Brito, Sara, Thompson, Kyle, Campistol, Jaume, Colomer, Jaime, Hardy, Steven A., He, Langping, Fernandez-Marmiesse, Ana, Palacios, Lourdes, Jou, Cristina, Jimenez-Mallebrera, Cecilia ORCID: 0000-0001-8203-7103, Armstrong, Judith, Montero, Raquel, Montero, Raquel, Tischner, Christin, Wenz, Tina, McFarland, Robert ORCID: 0000-0002-8833-2688 and Taylor, Robert W.
(2015).
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.
Front. Genet., 6.
LAUSANNE:
FRONTIERS MEDIA SA.
ISSN 1664-8021
Brito, Sara, Thompson, Kyle, Campistol, Jaume, Colomer, Jaime, Hardy, Steven A., He, Langping, Fernandez-Marmiesse, Ana, Palacios, Lourdes, Jou, Cristina, Jimenez-Mallebrera, Cecilia ORCID: 0000-0001-8203-7103, Armstrong, Judith, Montero, Raquel, Montero, Raquel, Tischner, Christin, Wenz, Tina, McFarland, Robert ORCID: 0000-0002-8833-2688 and Taylor, Robert W.
(2015).
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.
Front. Genet., 6.
LAUSANNE:
FRONTIERS MEDIA SA.
ISSN 1664-8021
Brito, Sara, Thompson, Kyle, Campistol, Jaume, Colomer, Jaime, Hardy, Steven A., He, Langping, Fernandez-Marmiesse, Ana, Palacios, Lourdes, Jou, Cristina, Jimenez-Mallebrera, Cecilia ORCID: 0000-0001-8203-7103, Armstrong, Judith, Montero, Raquel, Artuch, Rafael, Tischner, Christin, Wenz, Tina, McFarland, Robert ORCID: 0000-0002-8833-2688 and Taylor, Robert W.
(2015).
Long-term survival in a child with severe encephalpathy, multiple respiratory chain deficiency and GFM1 mutations (vol 6, 102, 2015).
Front. Genet., 6.
LAUSANNE:
FRONTIERS MEDIA SA.
ISSN 1664-8021