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The rRNA epitranscriptome and myonuclear SNORD landscape in skeletal muscle fibers contributes to ribosome heterogeneity and is altered by a hypertrophic stimulus Cui, Minying; Jannig, Paulo; Halladjian, Maral; Figueiredo, Vandre C.; Wen, Yuan; Vechetti, Ivan J.; Krogh, Nicolai; Jude, Baptiste; Edman, Sebastian; Lanner, Johanna; Mccarthy, John; Murach, Kevin A.; Sejersen, Thomas; Nielsen, Henrik; von Walden, Ferdinand 分享 收藏
Flnc expression impacts mitochondrial function, autophagy, and calcium handling in C2C12 cells Klimenko, E. S.; Sukhareva, K. S.; Vlasova, Yu A.; Smolina, N. A.; Fomicheva, Yu V.; Knyazeva, A.; Muravyev, A. S.; Sorokina, M. Yu; Gavrilova, L. S.; Boldyreva, L. V.; Medvedeva, S. S.; Sejersen, T.; Kostareva, A. A. 分享 收藏
Spinal Muscular Atrophy Update in Best Practices Schroth, Mary; Deans, Jennifer; Arya, Kapil; Castro, Diana; De Vivo, Darryl C.; Gibbons, Melissa A.; Ionita, Cristian; Kuntz, Nancy L.; Lakhotia, Arpita; Knierbein, Erin Neil; Scoto, Mariacristina; Sejersen, Thomas; Servais, Laurent; Tian, Cuixia; Waldrop, Megan A.; Vazquez-Costa, Juan F. 分享 收藏
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Desmin mutations impact the autophagy flux in C2C12 cell in mutation-specific manner Sukhareva, K. S.; Smolina, N. A.; Churkina, A. I.; Kalugina, K. K.; Zhuk, S. V.; Khudiakov, A. A.; Khodot, A. A.; Faggian, G.; Luciani, G. B.; Sejersen, T.; Kostareva, A. A. 分享 收藏
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood Muravyev, A.; Vershinina, T.; Tesner, P.; Sjoberg, G.; Fomicheva, Yu; Cajbikova, N. Novak; Kozyreva, A.; Zhuk, S.; Mamaeva, E.; Tarnovskaya, S.; Jornholt, J.; Sokolnikova, P.; Pervunina, T.; Vasichkina, E.; Sejersen, T.; Kostareva, A. 分享 收藏
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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions Olive, Montse; Engvall, Martin; Ravenscroft, Gianina; Cabrera-Serrano, Macarena; Jiao, Hong; Bortolotti, Carlo Augusto; Pignataro, Marcello; Lambrughi, Matteo; Jiang, Haibo; Forrest, Alistair R. R.; Benseny-Cases, Nuria; Hofbauer, Stefan; Obinger, Christian; Battistuzzi, Gianantonio; Bellei, Marzia; Borsari, Marco; Di Rocco, Giulia; Viola, Helena M.; Hoo, Livia C.; Cladera, Josep; Lagerstedt-Robinson, Kristina; Xiang, Fengqing; Wredenberg, Anna; Miralles, Francesc; Jose Baiges, Juan; Malfatti, Edoardo; Romero, Norma B.; Streichenberger, Nathalie; Via, Christophe; Claeys, Kristl G.; Straathof, Chiara S. M.; Goris, An; Freyer, Christoph; Lammens, Martin; Bassez, Guillaume; Kere, Juha; Clemente, Paula; Sejersen, Thomas; Udd, Bjarne; Vidal, Noemi; Ferrer, Isidre; Edstrom, Lars; Wedell, Anna; Laing, Nigel G. 分享 收藏
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy Aartsma-Rus, Annemieke; Hegde, Madhuri; Ben-Omran, Tawfeg; Buccella, Filippo; Ferlini, Alessandra; Gallano, Pia; Howell, R. Rodney; Leturcq, France; Martin, Ann S.; Potulska-Chromik, Anna; Saute, Jonas A.; Schmidt, Wolfgang M.; Sejersen, Thomas; Tuffery-Giraud, Sylvie; Uyguner, Zehra Oya; Witcomb, Luci A.; Yau, Shu; Nelson, Stanley F. 分享 收藏
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy Kiselev, Artem; Vaz, Raquel; Knyazeva, Anastasia; Khudiakov, Aleksandr; Tarnovskaya, Svetlana; Liu, Jiao; Sergushichev, Alexey; Kazakov, Sergey; Frishman, Dmitrij; Smolina, Natalia; Pervunina, Tatiana; Jorholt, John; Sjoberg, Gunnar; Vershinina, Tatiana; Rudenko, Dmitriy; Arner, Anders; Sejersen, Thomas; Lindstrand, Anna; Kostareva, Anna 分享 收藏
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization Wang, Haicui; Salter, Claire G.; Refai, Osama; Hardy, Holly; Barwick, Katy E. S.; Akpulat, Ugur; Kvarnung, Malin; Chioza, Barry A.; Harlalka, Gaurav; Taylan, Fulya; Sejersen, Thomas; Wright, Jane; Zimmerman, Holly H.; Karakaya, Mert; Stueve, Burkhardt; Weis, Joachim; Schara, Ulrike; Russell, Mark A.; Abdul-Rahman, Omar A.; Chilton, John; Blakely, Randy D.; Baple, Emma L.; Cirak, Sebahattin; Crosby, Andrew H. 分享 收藏
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial McDonald, Craig M.; Campbell, Craig; Erazo Torricelli, Ricardo; Finkel, Richard S.; Flanigan, Kevin M.; Goemans, Nathalie; Heydemann, Peter; Kaminska, Anna; Kirschner, Janbernd; Muntoni, Francesco; Nascimento Osorio, Andres; Schara, Ulrike; Sejersen, Thomas; Shieh, Perry B.; Sweeney, H. Lee; Topaloglu, Haluk; Tulinius, Mar; Vilchez, Juan J.; Voit, Thomas; Wong, Brenda; Elfring, Gary; Kroger, Hans; Luo, Xiaohui; McIntosh, Joseph; Ong, Tuyen; Riebling, Peter; Souza, Marcio; Spiegel, Robert J.; Peltz, Stuart W.; Mercuri, Eugenio 分享 收藏
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Progressive cardiac conduction disease associated with a DSP gene mutation Kiselev, Artem; Mikhaylov, Evgeny; Parmon, Elena; Sjoberg, Gunnar; Sejersen, Thomas; Tarnovskaya, Svetlana; Nugnyi, Pavel; Mitrofanova, Lubov; Lebedev, Dmitry; Kostareva, Anna 分享 收藏
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