Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies

by Lin, Yung-Yao, White, Richard J., Torelli, Silvia, Cirak, Sebahattin, Muntoni, Francesco, Stemple, Derek L.
Published 2011

Flow Cytometry for the Analysis of α-Dystroglycan Glycosylation in Fibroblasts from Patients with Dystroglycanopathies

by Stevens, Elizabeth, Torelli, Silvia, Feng, Lucy, Phadke, Rahul, Walter, Maggie C., Schneiderat, Peter, Eddaoudi, Ayad, Sewry, Caroline A., Muntoni, Francesco
Published 2013

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

by Heywood, Wendy E., Bliss, Emily, Mills, Philippa, Yuzugulen, Jale, Carreno, Gabriela, Clayton, Peter T., Muntoni, Francesco, Worthington, Viki C., Torelli, Silvia, Sebire, Neil J., Mills, Kevin, Grunewald, Stephanie
Published 2016

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-...

by Cirak, Sebahattin, Arechavala-Gomeza, Virginia, Guglieri, Michela, Feng, Lucy, Torelli, Silvia, Anthony, Karen, Abbs, Stephen, Garralda, Maria Elena, Bourke, John, Wells, Dominic J, Dickson, George, Wood, Matthew JA, Wilton, Steve D, Straub, Volker, Kole, Ryszard, Shrewsbury, Stephen B, Sewry, Caroline, Morgan, Jennifer E, Bushby, Kate, Muntoni, Francesco
Published 2011

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

by Cirak, Sebahattin, Foley, Aileen Reghan, Herrmann, Ralf, Willer, Tobias, Yau, Shu, Stevens, Elizabeth, Torelli, Silvia, Brodd, Lina, Kamynina, Alisa, Vondracek, Petr, Roper, Helen, Longman, Cheryl, Korinthenberg, Rudolf, Marrosu, Gianni, Nürnberg, Peter, Michele, Daniel E., Plagnol, Vincent, Hurles, Matt, Moore, Steven A., Sewry, Caroline A., Campbell, Kevin P., Voit, Thomas, Muntoni, Francesco
Published 2013

Dystrophin quantification: Biological and translational research implications

by Anthony, Karen, Arechavala-Gomeza, Virginia, Taylor, Laura E., Vulin, Adeline, Kaminoh, Yuuki, Torelli, Silvia, Feng, Lucy, Janghra, Narinder, Bonne, Gisèle, Beuvin, Maud, Barresi, Rita, Henderson, Matt, Laval, Steven, Lourbakos, Afrodite, Campion, Giles, Straub, Volker, Voit, Thomas, Sewry, Caroline A., Morgan, Jennifer E., Flanigan, Kevin M., Muntoni, Francesco
Published 2014