From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies

by Barresi, Rita
Published 2011

Undiagnosed Genetic Muscle Disease in the North of England: an in Depth Phenotype Analysis

by Harris, Elizabeth, Laval, Steve, Hudson, Judith, Barresi, Rita, De Waele, Liesbeth, Straub, Volker, Lochmüller, Hanns, Bushby, Kate, Sarkozy, Anna
Published 2013

Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study

by Steele, Hannah E., Harris, Elizabeth, Barresi, Rita, Marsh, Julie, Beattie, Anna, Bourke, John P., Straub, Volker, Chinnery, Patrick F.
Published 2016

Exon skipping and gene transfer restore dystrophin expression in human induced pluripotent stem cells-cardiomyocytes harboring DMD mutations

by Dick, Emily, Kalra, Spandan, Anderson, David, George, Vinoj, Ritso, Morten, Laval, Steven H., Barresi, Rita, Asrtsma-Rus, Annemieke, Lochmueller, Hanns, Denning, Chris
Published 2013

Dysferlin mutations and mitochondrial dysfunction

by Vincent, Amy E., Rosa, Hannah S., Alston, Charlotte L., Grady, John P., Rygiel, Karolina A., Rocha, Mariana C., Barresi, Rita, Taylor, Robert W., Turnbull, Doug M.
Published 2016

Mitochondrial dysfunction in myofibrillar myopathy

by Vincent, Amy E., Grady, John P., Rocha, Mariana C., Alston, Charlotte L., Rygiel, Karolina A., Barresi, Rita, Taylor, Robert W., Turnbull, Doug M.
Published 2016

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