Muscular Dystrophy

  • Refining NGS diagnosis of muscular disorders
    Mathieu Cerino, Emmanuelle Salort-Campana, Svetlana Gorokhova, Amandine Sevy, Nathalie Bonello-Palot, Nicolas Levy, Shahram Attarian, Marc Bartoli, Martin Krahn
  • Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
    Alicia Alonso-Jimenez, Rosemarie H M J M Kroon, Aida Alejaldre-Monforte, Claudia Nuñez-Peralta, Corinne G C Horlings, Baziel G M van Engelen, Montse Olivé, Laura González, Enric Verges-Gil, Carmen Paradas, Celedonio Márquez, Matteo Garibaldi, Pía Gallano, Maria José Rodriguez, Lidia Gonzalez-Quereda, Cristina Dominguez Gonzalez, John Vissing, Freja Fornander, Anne-Sofie Vibæk Eisum, Tania García-Sobrino, Julio Pardo, Roberto García-Figueiras, Nuria Muelas, Juan Jesús Vilchez, Solange Kapetanovic, Giorgio Tasca, Mauro Monforte, Enzo Ricci, María Teresa Gomez, Jorge Alfredo Bevilacqua, Jorge Diaz-Jara, Ivonne Ingrid Zamorano, Robert Yves Carlier, Pascal Laforet, Ana Pelayo-Negro, Alba Ramos-Fransi, Amaia Martínez, Chiara Marini-Bettolo, Volker Straub, Gerardo Gutiérrez, Tanya Stojkovic, María Asunción Martín, Germán Morís, Roberto Fernández-Torrón, Adolfo Lopez De Munaín, Elena Cortes-Vicente, Luis Querol, Ricardo Rojas-García, Isabel Illa, Jordi Diaz-Manera
  • Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population
    Katherine Johnson, Willem De Ridder, Ana Töpf, Marta Bertoli, Lauren Phillips, Peter De Jonghe, Jonathan Baets, Tine Deconinck, Vidosava Rakocevic Stojanovic, Stojan Perić, Hacer Durmus, Shirin Jamal-Omidi, Shahriar Nafissi, Tiziana Mongini, Anna Łusakowska, Mark Busby, James Miller, Fiona Norwood, Judith Hudson, Rita Barresi, Monkol Lek, Daniel G MacArthur, Volker Straub
  • Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study
    Ursula R Moore, Marni Jacobs, Roberto Fernandez-Torron, Jiji Jang, Meredith K James, Anna Mayhew, Laura Rufibach, Plavi Mittal, Michelle Eagle, Avital Cnaan, Pierre G Carlier, Andrew Blamire, Heather Hilsden, Hanns Lochmüller, Ulrike Grieben, Simone Spuler, Carolina Tesi Rocha, John W Day, Kristi J Jones, Diana X Bharucha-Goebel, Emmanuelle Salort-Campana, Matthew Harms, Alan Pestronk, Sabine Krause, Olivia Schreiber-Katz, Maggie C Walter, Carmen Paradas, Jean-Yves Hogrel, Tanya Stojkovic, Shin’ichi Takeda, Madoka Mori-Yoshimura, Elena Bravver, Susan Sparks, Jordi Diaz-Manera, Luca Bello, Claudio Semplicini, Elena Pegoraro, Jerry R Mendell, Kate Bushby, Volker Straub
  • Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
    Jordi Diaz-Manera, Roberto Fernandez-Torron, Jaume LLauger, Meredith K James, Anna Mayhew, Fiona E Smith, Ursula R Moore, Andrew M Blamire, Pierre G Carlier, Laura Rufibach, Plavi Mittal, Michelle Eagle, Marni Jacobs, Tim Hodgson, Dorothy Wallace, Louise Ward, Mark Smith, Roberto Stramare, Alessandro Rampado, Noriko Sato, Takeshi Tamaru, Bruce Harwick, Susana Rico Gala, Suna Turk, Eva M Coppenrath, Glenn Foster, David Bendahan, Yann Le Fur, Stanley T Fricke, Hansel Otero, Sheryl L Foster, Anthony Peduto, Anne Marie Sawyer, Heather Hilsden, Hanns Lochmuller, Ulrike Grieben, Simone Spuler, Carolina Tesi Rocha, John W Day, Kristi J Jones, Diana X Bharucha-Goebel, Emmanuelle Salort-Campana, Matthew Harms, Alan Pestronk, Sabine Krause, Olivia Schreiber-Katz, Maggie C Walter, Carmen Paradas, Jean-Yves Hogrel, Tanya Stojkovic, Shin’ichi Takeda, Madoka Mori-Yoshimura, Elena Bravver, Susan Sparks, Luca Bello, Claudio Semplicini, Elena Pegoraro, Jerry R Mendell, Kate Bushby, Volker Straub
  • Six issues in muscle disease
    Michael Swash
  • The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials
    Valeria Ricotti, Deborah A Ridout, Marika Pane, Marion Main, Anna Mayhew, Eugenio Mercuri, Adnan Y Manzur, Francesco Muntoni
  • Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants
    Janneke C van den Bergen, Monika Hiller, Stefan Böhringer, Linda Vijfhuizen, Hendrika B Ginjaar, Amina Chaouch, Kate Bushby, Volker Straub, Mariacristina Scoto, Sebahattin Cirak, Véronique Humbertclaude, Mireille Claustres, Chiara Scotton, Chiara Passarelli, Hanns Lochmüller, Francesco Muntoni, Sylvie Tuffery-Giraud, Alessandra Ferlini, Annemieke M Aartsma-Rus, Jan J G M Verschuuren, Peter AC 't Hoen, Pietro Spitali
  • Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s)
    Takahiro Yonekawa, Ichizo Nishino
  • Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
    Gerald Pfeffer, Rita Barresi, Ian J Wilson, Steven A Hardy, Helen Griffin, Judith Hudson, Hannah R Elliott, Aravind V Ramesh, Aleksandar Radunovic, John B Winer, Sujit Vaidya, Ashok Raman, Mark Busby, Maria E Farrugia, Alec Ming, Chris Everett, Hedley C A Emsley, Rita Horvath, Volker Straub, Kate Bushby, Hanns Lochmüller, Patrick F Chinnery, Anna Sarkozy

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