Nemaline myopathies: a current view

por Sewry, Caroline A., Laitila, Jenni M., Wallgren-Pettersson, Carina
Publicado 2019

A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis

por Brady, Stefen, Squier, Waney, Sewry, Caroline, Hanna, Michael, Hilton-Jones, David, Holton, Janice L
Publicado 2014

Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies

por Janghra, Narinder, Morgan, Jennifer E., Sewry, Caroline A., Wilson, Francis X., Davies, Kay E., Muntoni, Francesco, Tinsley, Jonathon
Publicado 2016

Nesprins: Tissue-Specific Expression of Epsilon and Other Short Isoforms

por Duong, Nguyen Thuy, Morris, Glenn E., Lam, Le Thanh, Zhang, Qiuping, Sewry, Caroline A., Shanahan, Catherine M., Holt, Ian
Publicado 2014

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

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

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

por Lam, Le Thanh, Holt, Ian, Laitila, Jenni, Hanif, Mubashir, Pelin, Katarina, Wallgren-Pettersson, Carina, Sewry, Caroline A., Morris, Glenn E.
Publicado 2018

A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies

por Scaglioni, Dominic, Ellis, Matthew, Catapano, Francesco, Torelli, Silvia, Chambers, Darren, Feng, Lucy, Sewry, Caroline, Morgan, Jennifer, Muntoni, Francesco, Phadke, Rahul
Publicado 2020

Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody

por Holt, Ian, Duong, Nguyen Thuy, Zhang, Qiuping, Lam, Le Thanh, Sewry, Caroline A., Mamchaoui, Kamel, Shanahan, Catherine M., Morris, Glenn E.
Publicado 2016

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples

por Sardone, Valentina, Ellis, Matthew, Torelli, Silvia, Feng, Lucy, Chambers, Darren, Eastwood, Deborah, Sewry, Caroline, Phadke, Rahul, Morgan, Jennifer E., Muntoni, Francesco
Publicado 2018

Immunohistochemistry on a panel of Emery–Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology

por Le Thanh, Phu, Meinke, Peter, Korfali, Nadia, Srsen, Vlastimil, Robson, Michael I., Wehnert, Manfred, Schoser, Benedikt, Sewry, Caroline A., Schirmer, Eric C.
Publicado 2017

Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle

por Holt, Ian, Fuller, Heidi R., Lam, Le Thanh, Sewry, Caroline A., Shirran, Sally L., Zhang, Qiuping, Shanahan, Catherine M., Morris, Glenn E.
Publicado 2019

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

por Lawlor, Michael W., Beggs, Alan H., Buj-Bello, Ana, Childers, Martin K., Dowling, James J., James, Emma S., Meng, Hui, Moore, Steven A., Prasad, Suyash, Schoser, Benedikt, Sewry, Caroline A.
Publicado 2016

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

por Lornage, Xavière, Schartner, Vanessa, Balbueno, Inès, Biancalana, Valérie, Willis, Tracey, Echaniz-Laguna, Andoni, Scheidecker, Sophie, Quinlivan, Ros, Fardeau, Michel, Malfatti, Edoardo, Lannes, Béatrice, Sewry, Caroline, Romero, Norma B., Laporte, Jocelyn, Böhm, Johann
Publicado 2019

Actin Nemaline Myopathy Mouse Reproduces Disease, Suggests Other Actin Disease Phenotypes and Provides Cautionary Note on Muscle Transgene Expression

por Ravenscroft, Gianina, Jackaman, Connie, Sewry, Caroline A., McNamara, Elyshia, Squire, Sarah E., Potter, Allyson C., Papadimitriou, John, Griffiths, Lisa M., Bakker, Anthony J., Davies, Kay E., Laing, Nigel G., Nowak, Kristen J.
Publicado 2011

Diagnostic approach to the congenital muscular dystrophies

por Bönnemann, Carsten G., Wang, Ching H., Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D., Moore, Steven A., Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N.
Publicado 2014

The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy

por Scaglioni, Dominic, Catapano, Francesco, Ellis, Matthew, Torelli, Silvia, Chambers, Darren, Feng, Lucy, Beck, Matthew, Sewry, Caroline, Monforte, Mauro, Harriman, Shawn, Koenig, Erica, Malhotra, Jyoti, Popplewell, Linda, Guglieri, Michela, Straub, Volker, Mercuri, Eugenio, Servais, Laurent, Phadke, Rahul, Morgan, Jennifer, Muntoni, Francesco
Publicado 2021

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

por 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
Publicado 2011

Dystrophin quantification: Biological and translational research implications

por 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
Publicado 2014

A chemical chaperone improves muscle function in mice with a RyR1 mutation

por Lee, Chang Seok, Hanna, Amy D., Wang, Hui, Dagnino-Acosta, Adan, Joshi, Aditya D., Knoblauch, Mark, Xia, Yan, Georgiou, Dimitra K., Xu, Jianjun, Long, Cheng, Amano, Hisayuki, Reynolds, Corey, Dong, Keke, Martin, John C., Lagor, William R., Rodney, George G., Sahin, Ergun, Sewry, Caroline, Hamilton, Susan L.
Publicado 2017

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

por Logan, Clare V., Cossins, Judith, Rodríguez Cruz, Pedro M., Parry, David A., Maxwell, Susan, Martínez-Martínez, Pilar, Riepsaame, Joey, Abdelhamed, Zakia A., Lake, Alice V.R., Moran, Maria, Robb, Stephanie, Chow, Gabriel, Sewry, Caroline, Hopkins, Philip M., Sheridan, Eamonn, Jayawant, Sandeep, Palace, Jacqueline, Johnson, Colin A., Beeson, David
Publicado 2015