European Reference Networks: developing a EUCERD opinion

by Bushby, Kate
Published 2012

Scope of centres of expertise for rare diseases in European countries where they exist

by Rodwell, Charlotte, Aymé, Ségolène, Bushby, Kate
Published 2012

The importance of genetic diagnosis for Duchenne muscular dystrophy

by Aartsma-Rus, Annemieke, Ginjaar, Ieke B, Bushby, Kate
Published 2016

How reference networks develop, implement, and monitor guidelines

by Kirschner, Jan, Rodger, Sunil, Vry, Julia, Gramsch, Kathrin, Lochmüller, Hanns, Bushby, Kate
Published 2012

Imperatives for DUCHENNE MD: a Simplified Guide to Comprehensive Care for Duchenne Muscular Dystrophy

by Kinnett, Kathi, Rodger, Sunil, Vroom, Elizabeth, Furlong, Pat, Aartsma-Rus, Annemieke, Bushby, Kate
Published 2015

Challenges of the set-up process for academic led international studies of rare diseases

by McColl, Elaine, Bushby, Kate, Guglieri, Michela, Davis, Becky, Watson, Gillian, Griggs, Robert, Hart, Kim
Published 2015

The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks

by Evangelista, Teresinha, Hedley, Victoria, Atalaia, Antonio, Johnson, Matt, Lynn, Stephen, Le Cam, Yann, Bushby, Kate
Published 2016

Improving recognition of Duchenne muscular dystrophy: a retrospective case note review

by van Ruiten, Henriette J A, Straub, Volker, Bushby, Kate, Guglieri, Michela
Published 2014

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

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases

by Rodger, Sunil, Lochmüller, Hanns, Tassoni, Adrian, Gramsch, Kathrin, König, Kirsten, Bushby, Kate, Straub, Volker, Korinthenberg, Rudolf, Kirschner, Janbernd
Published 2013

Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy

by Burch, Peter M., Pogoryelova, Oksana, Goldstein, Richard, Bennett, Donald, Guglieri, Michela, Straub, Volker, Bushby, Kate, Lochmüller, Hanns, Morris, Carl
Published 2015

Phenotypic variability of TRPV4 related neuropathies

by Evangelista, Teresinha, Bansagi, Boglarka, Pyle, Angela, Griffin, Helen, Douroudis, Konstantinos, Polvikoski, Tuomo, Antoniadi, Thalia, Bushby, Kate, Straub, Volker, Chinnery, Patrick F., Lochmüller, Hanns, Horvath, Rita
Published 2015

Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy

by Zaharieva, Irina T., Calissano, Mattia, Scoto, Mariacristina, Preston, Mark, Cirak, Sebahattin, Feng, Lucy, Collins, James, Kole, Ryszard, Guglieri, Michela, Straub, Volker, Bushby, Kate, Ferlini, Alessandra, Morgan, Jennifer E., Muntoni, Francesco
Published 2013

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

by Heslop, Emma, Csimma, Cristina, Straub, Volker, McCall, John, Nagaraju, Kanneboyina, Wagner, Kathryn R, Caizergues, Didier, Korinthenberg, Rudolf, Flanigan, Kevin M, Kaufmann, Petra, McNeil, Elizabeth, Mendell, Jerry, Hesterlee, Sharon, Wells, Dominic J, Bushby, Kate
Published 2015

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

Guidance in Social and Ethical Issues Related to Clinical, Diagnostic Care and Novel Therapies for Hereditary Neuromuscular Rare Diseases: “Translating“ the Translational

by McCormack, Pauline, Woods, Simon, Aartsma-Rus, Annemieke, Hagger, Lynn, Herczegfalvi, Agnes, Heslop, Emma, Irwin, Joseph, Kirschner, Janbernd, Moeschen, Patrick, Muntoni, Francesco, Ouillade, Marie-Christine, Rahbek, Jes, Rehmann-Sutter, Christoph, Rouault, Francoise, Sejersen, Thomas, Vroom, Elizabeth, Straub, Volker, Bushby, Kate, Ferlini, Alessandra
Published 2013

Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study

by Willis, Tracey A., Hollingsworth, Kieren G., Coombs, Anna, Sveen, Marie-Louise, Andersen, Søren, Stojkovic, Tanya, Eagle, Michelle, Mayhew, Anna, de Sousa, Paulo L., Dewar, Liz, Morrow, Jasper M., Sinclair, Christopher D. J., Thornton, John S., Bushby, Kate, Lochmüller, Hanns, Hanna, Michael G., Hogrel, Jean-Yves, Carlier, Pierre G., Vissing, John, Straub, Volker
Published 2013

Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study

by Willis, Tracey A., Hollingsworth, Kieren G., Coombs, Anna, Sveen, Marie-Louise, Andersen, Soren, Stojkovic, Tanya, Eagle, Michelle, Mayhew, Anna, de Sousa, Paulo Loureiro, Dewar, Liz, Morrow, Jasper M., Sinclair, Christopher D. J., Thornton, John S., Bushby, Kate, Lochmuller, Hanns, Hanna, Michael G., Hogrel, Jean-Yves, Carlier, Pierre G., Vissing, John, Straub, Volker
Published 2014

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

by Belaya, Katsiaryna, Rodríguez Cruz, Pedro M., Liu, Wei Wei, Maxwell, Susan, McGowan, Simon, Farrugia, Maria E., Petty, Richard, Walls, Timothy J., Sedghi, Maryam, Basiri, Keivan, Yue, Wyatt W., Sarkozy, Anna, Bertoli, Marta, Pitt, Matthew, Kennett, Robin, Schaefer, Andrew, Bushby, Kate, Parton, Matt, Lochmüller, Hanns, Palace, Jacqueline, Muntoni, Francesco, Beeson, David
Published 2015

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

by van den Bergen, Janneke C, Hiller, Monika, Böhringer, Stefan, Vijfhuizen, Linda, Ginjaar, Hendrika B, Chaouch, Amina, Bushby, Kate, Straub, Volker, Scoto, Mariacristina, Cirak, Sebahattin, Humbertclaude, Véronique, Claustres, Mireille, Scotton, Chiara, Passarelli, Chiara, Lochmüller, Hanns, Muntoni, Francesco, Tuffery-Giraud, Sylvie, Ferlini, Alessandra, Aartsma-Rus, Annemieke M, Verschuuren, Jan J G M, 't Hoen, Peter AC, Spitali, Pietro
Published 2015