Recent advances in the management of Duchenne muscular dystrophy von Strehle, Eugen-Matthias, Straub, Volker

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The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification von Becker Lena-Luise, Salimi, Dafsari Hormos, Schallner Jens, Abdin Dalia, Seifert, Michael, Petit, Florence, Smol, Thomas, Bok Levinus, Rodan Lance, Krapels Ingrid, Spranger, Stephanie, Weschke Bernhard, Johnson, Katherine, Straub Volker, Kaindl, Angela M, Di Donato Nataliya, von der Hagen Maja, Cirak Sebahattin

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229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017 von Straub, Volker, Murphy, Alexander, Udd, Bjarne, Corrado, Angelini, Aymé, Ségolène, Bönneman, Carsten, de Visser, Marianne, Hamosh, Ada, Jacobs, Laura, Khizanishvili, Nina, Kroneman, Madelon, Laflorêt, Pascal, Murphy, Alex, Nigro, Vincenzo, Rufibach, Laura, Sarkozy, Anna, Swanepoel, Shaun, Torrente, Ivan, Udd, Bjarne, Urtizberea, Andoni, Vissing, John, Walter, Maggie

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Peptide-conjugated phosphodiamidate oligomer-mediated exon skipping has benefits for cardiac function in mdx and Cmah-/-mdx mouse models of Duchenne muscular dystrophy von Blain, Alison M, Greally, Elizabeth, McClorey, Graham, Manzano, Raquel, Betts, Corinne A, Godfrey, Caroline, O'Donovan, Liz, Coursindel, Thibault, Gait, Mike J, Wood, Matthew J, MacGowan, Guy A, Straub, Volker W

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Cognitive impairment appears progressive in the mdx mouse von Bagdatlioglu, Emine, Porcari, Paola, Greally, Elizabeth, Blamire, Andrew M., Straub, Volker W.

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Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-... von Cirak, Sebahattin, MD, Arechavala-Gomeza, Virginia, PhD, Guglieri, Michela, MD, Feng, Lucy, PhD, Torelli, Silvia, PhD, Anthony, Karen, PhD, Abbs, Stephen, PhD, Garralda, Maria Elena, Prof, Bourke, John, MD, Wells, Dominic J, Prof, Dickson, George, Prof, Wood, Matthew JA, MD PhD, Wilton, Steve D, Prof, Straub, Volker, Prof, Kole, Ryszard, Prof, Shrewsbury, Stephen B, MD, Sewry, Caroline, Prof, Morgan, Jennifer E, PhD, Bushby, Kate, Prof, Muntoni, Francesco, Prof

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Quantifying the burden of caregiving in Duchenne muscular dystrophy von Landfeldt, Erik, Lindgren, Peter, Bell, Christopher F., Guglieri, Michela, Straub, Volker, Lochmüller, Hanns, Bushby, Katharine

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Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study von Voit, Thomas, Prof, Topaloglu, Haluk, Prof, Straub, Volker, Prof, Muntoni, Francesco, Prof, Deconinck, Nicolas, MD, Campion, Giles, MD, De Kimpe, Sjef J, PhD, Eagle, Michelle, PhD, Guglieri, Michela, MD, Hood, Steve, PhD, Liefaard, Lia, PhD, Lourbakos, Afrodite, PhD, Morgan, Allison, BSc, Nakielny, Joanna, MB, Quarcoo, Naashika, PhD, Ricotti, Valeria, MB, Rolfe, Katie, MSc, Servais, Laurent, MD, Wardell, Claire, DPhil, Wilson, Rosamund, PhD, Wright, Padraig, MD, Kraus, John E, MD

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Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies von Verdú-Díaz, José, Alonso-Pérez, Jorge, Nuñez-Peralta, Claudia, Tasca, Giorgio, Vissing, John, Straub, Volker, Fernández-Torrón, Roberto, Llauger, Jaume, Illa, Isabel, Díaz-Manera, Jordi

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Short stature and pubertal delay in Duchenne muscular dystrophy von Wood, Claire L, Straub, Volker, Guglieri, Michela, Bushby, Kate, Cheetham, Tim

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Magnetic resonance imaging in duchenne muscular dystrophy: Longitudinal assessment of natural history over 18 months von Hollingsworth, Kieren G., Garrood, Penny, Eagle, Michelle, Bushby, Kate, Straub, Volker

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Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period von Sframeli, Maria, Sarkozy, Anna, Bertoli, Marta, Astrea, Guja, Hudson, Judith, Scoto, Mariacristina, Mein, Rachael, Yau, Michael, Phadke, Rahul, Feng, Lucy, Sewry, Caroline, Fen, Adeline Ngoh Seow, Longman, Cheryl, McCullagh, Gary, Straub, Volker, Robb, Stephanie, Manzur, Adnan, Bushby, Kate, Muntoni, Francesco

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European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) von Barp, Andrea, Laforet, Pascal, Bello, Luca, Tasca, Giorgio, Vissing, John, Monforte, Mauro, Ricci, Enzo, Choumert, Ariane, Stojkovic, Tanya, Malfatti, Edoardo, Pegoraro, Elena, Semplicini, Claudio, Stramare, Roberto, Scheidegger, Olivier, Haberlova, Jana, Straub, Volker, Marini-Bettolo, Chiara, Løkken, Nicoline, Diaz-Manera, Jordi, Urtizberea, Jon A., Mercuri, Eugenio, Kynčl, Martin, Walter, Maggie C., Carlier, Robert Y.

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Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-conce... von Kinali, Maria, MD, Arechavala-Gomeza, Virginia, PhD, Feng, Lucy, PhD, Cirak, Sebahattin, MD, Hunt, David, FRCS, Adkin, Carl, PhD, Guglieri, Michela, MD, Ashton, Emma, PhD, Abbs, Stephen, PhD, Nihoyannopoulos, Petros, MD, Garralda, Maria Elena, MD, Rutherford, Mary, MD, Mcculley, Caroline, PhD, Popplewell, Linda, PhD, Graham, Ian R, PhD, Dickson, George, PhD, Wood, Matthew JA, MD, Wells, Dominic J, PhD, Wilton, Steve D, PhD, Kole, Ryszard, PhD, Straub, Volker, MD, Bushby, Kate, MD, Sewry, Caroline, PhD, Morgan, Jennifer E, PhD, Muntoni, Francesco, MD

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Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study von 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

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Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy von Ayyar Gupta, Vandana, Pitchforth, Jacqueline M, Domingos, Joana, Ridout, Deborah, Iodice, Mario, Rye, Catherine, Chesshyre, Mary, Wolfe, Amy, Selby, Victoria, Mayhew, Anna, Mazzone, Elena S, Ricotti, Valeria, Hogrel, Jean-Yves, Niks, Erik H, de Groot, Imelda, Servais, Laurent, Straub, Volker, Mercuri, Eugenio, Manzur, Adnan Y, Muntoni, Francesco

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Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations von Rajab, Anna, Straub, Volker, McCann, Liza J, Seelow, Dominik, Varon, Raymonda, Barresi, Rita, Schulze, Anne, Lucke, Barbara, Lützkendorf, Susanne, Karbasiyan, Mohsen, Bachmann, Sebastian, Spuler, Simone, Schuelke, Markus

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Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice von Zou, Yaqun, Zwolanek, Daniela, Izu, Yayoi, Gandhy, Shreya, Schreiber, Gudrun, Brockmann, Knut, Devoto, Marcella, Tian, Zuozhen, Hu, Ying, Veit, Guido, Meier, Markus, Stetefeld, Jörg, Hicks, Debbie, Straub, Volker, Voermans, Nicol C, Birk, David E, Barton, Elisabeth R, Koch, Manuel, Bönnemann, Carsten G

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Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy von Hogrel, Jean-Yves, Decostre, Valérie, Ledoux, Isabelle, de Antonio, Marie, Niks, Erik H., de Groot, Imelda, Straub, Volker, Muntoni, Francesco, Ricotti, Valeria, Voit, Thomas, Seferian, Andreea, Gidaro, Teresa, Servais, Laurent

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Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy von Straub, Volker, MD, Balabanov, Pavel, PhD, Bushby, Kate, MD, Ensini, Monica, PhD, Goemans, Nathalie, MD, De Luca, Annamaria, PhD, Pereda, Alejandra, Hemmings, Robert, Campion, Giles, MD, Kaye, Edward, MD, Arechavala-Gomeza, Virginia, PhD, Goyenvalle, Aurelie, PhD, Niks, Erik, MD, Veldhuizen, Olav, Furlong, Pat, Stoyanova-Beninska, Violeta, MD, Wood, Matthew J, PhD, Johnson, Alex, Mercuri, Eugenio, MD, Muntoni, Francesco, MD, Sepodes, Bruno, PhD, Haas, Manuel, PharmD, Vroom, Elizabeth, DMD, Aartsma-Rus, Annemieke, Dr

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