نتائج البحث - Sejersen, Thomas

Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence حسب Hjartarson, Helgi Thor, Nathorst-Böös, Kristofer, Sejersen, Thomas

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Knockdown of desmin in zebrafish larvae affects interfilament spacing and mechanical properties of skeletal muscle حسب Li, Mei, Andersson-Lendahl, Monika, Sejersen, Thomas, Arner, Anders

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Knockdown of fast skeletal myosin-binding protein C in zebrafish results in a severe skeletal myopathy حسب Li, Mei, Andersson-Lendahl, Monika, Sejersen, Thomas, Arner, Anders

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“Suddenly we have hope that there is a future”: two families’ narratives when a child with spinal muscular atrophy receives a new drug حسب Hjorth, Elin, Lövgren, Malin, Kreicbergs, Ulrika, Sejersen, Thomas, Asaba, Eric

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Primary Murine Myotubes as a Model for Investigating Muscular Dystrophy حسب Smolina, Natalia, Kostareva, Anna, Bruton, Joseph, Karpushev, Alexey, Sjoberg, Gunnar, Sejersen, Thomas

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Costs of Illness of Spinal Muscular Atrophy: A Systematic Review حسب Landfeldt, Erik, Pechmann, Astrid, McMillan, Hugh J., Lochmüller, Hanns, Sejersen, Thomas

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Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis حسب Landfeldt, Erik, Thompson, Rachel, Sejersen, Thomas, McMillan, Hugh J., Kirschner, Janbernd, Lochmüller, Hanns

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FLNC Expression Level Influences the Activity of TEAD-YAP/TAZ Signaling حسب Knyazeva, Anastasia, Khudiakov, Aleksandr, Vaz, Raquel, Muravyev, Aleksey, Sukhareva, Ksenia, Sejersen, Thomas, Kostareva, Anna

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A protocol to develop clinical guidelines for inclusion‐body myositis حسب Jones, Katherine L., Sejersen, Thomas, Amato, Anthony A., Hilton‐Jones, David, Schmidt, Jens, Wallace, Amanda C., Badrising, Umesh A., Rose, Michael R.

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Time- and Ventricular-Specific Expression Profiles of Genes Encoding Z-Disk Proteins in Pressure Overload Model of Left Ventricular Hypertrophy حسب Knyazeva, Anastasia, Krutikov, Alexander, Golovkin, Alexey, Mishanin, Alexander, Pavlov, Georgii, Smolina, Natalia, Hushkina, Anastasia, Sejersen, Thomas, Sjoberg, Gunnar, Galagudza, Mikhail, Kostareva, Anna

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Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants حسب Jorholt, John, Formicheva, Yulia, Vershinina, Tatyana, Kiselev, Artem, Muravyev, Alexey, Demchenko, Elena, Fedotov, Petr, Zlotina, Anna, Rygkov, Anton, Vasichkina, Elena, Sejersen, Thomas, Kostareva, Anna

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European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy حسب Kirschner, Janbernd, Butoianu, Nina, Goemans, Nathalie, Haberlova, Jana, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, van der Pol, W. Ludo, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F., Ziegler, Andreas, Servais, Laurent, Muntoni, Francesco

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Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy حسب Kiselev, Artem, Vaz, Raquel, Knyazeva, Anastasia, Sergushichev, Alexey, Dmitrieva, Renata, Khudiakov, Aleksandr, Jorholt, John, Smolina, Natalia, Sukhareva, Ksenia, Fomicheva, Yulia, Mikhaylov, Evgeny, Mitrofanova, Lubov, Predeus, Alexander, Sjoberg, Gunnar, Rudenko, Dmitriy, Sejersen, Thomas, Lindstrand, Anna, Kostareva, Anna

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Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing حسب Kostareva, Anna, Kiselev, Artem, Gudkova, Alexandra, Frishman, Goar, Ruepp, Andreas, Frishman, Dmitrij, Smolina, Natalia, Tarnovskaya, Svetlana, Nilsson, Daniel, Zlotina, Anna, Khodyuchenko, Tatiana, Vershinina, Tatiana, Pervunina, Tatiana, Klyushina, Alexandra, Kozlenok, Andrey, Sjoberg, Gunnar, Golovljova, Irina, Sejersen, Thomas, Shlyakhto, Eugeniy

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

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Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments حسب Cimiotti, Diana, Fujita-Becker, Setsuko, Möhner, Desirée, Smolina, Natalia, Budde, Heidi, Wies, Aline, Morgenstern, Lisa, Gudkova, Alexandra, Sejersen, Thomas, Sjöberg, Gunnar, Mügge, Andreas, Nowaczyk, Marc M., Reusch, Peter, Pfitzer, Gabriele, Stehle, Robert, Schröder, Rasmus R., Mannherz, Hans G., Kostareva, Anna, Jaquet, Kornelia

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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization حسب 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, Stüve, 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

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Consensus Statement on Standard of Care for Congenital Myopathies حسب Wang, Ching H., Dowling, James J., North, Kathryn, Schroth, Mary K., Sejersen, Thomas, Shapiro, Frederic, Bellini, Jonathan, Weiss, Hali, Guillet, Marc, Amburgey, Kimberly, Apkon, Susan, Bertini, Enrico, Bonnemann, Carsten, Clarke, Nigel, Connolly, Anne M., Estournet-Mathiaud, Brigitte, Fitzgerald, Dominic, Florence, Julaine M., Gee, Richard, Gurgel-Giannetti, Juliana, Glanzman, Allan M., Hofmeister, Brittany, Jungbluth, Heinz, Koumbourlis, Anastassios C., Laing, Nigel G., Main, Marion, Morrison, Leslie A., Munns, Craig, Rose, Kristy, Schuler, Pamela M., Sewry, Caroline, Storhaug, Kari, Vainzof, Mariz, Yuan, Nanci

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Consensus Statement on Standard of Care for Congenital Muscular Dystrophies حسب Wang, Ching H., Bonnemann, Carsten G., Rutkowski, Anne, Sejersen, Thomas, Bellini, Jonathan, Battista, Vanessa, Florence, Julaine M., Schara, Ulrike, Schuler, Pamela M., Wahbi, Karim, Aloysius, Annie, Bash, Robert O., Béroud, Christophe, Bertini, Enrico, Bushby, Kate, Cohn, Ronald D., Connolly, Anne M., Deconinck, Nicolas, Desguerre, Isabelle, Eagle, Michelle, Estournet-Mathiaud, Brigitte, Ferreiro, Ana, Fujak, Albert, Goemans, Nathalie, Iannaccone, Susan T., Jouinot, Patricia, Main, Marion, Melacini, Paola, Mueller-Felber, Wolfgang, Muntoni, Francesco, Nelson, Leslie L., Rahbek, Jes, Quijano-Roy, Susana, Sewry, Caroline, Storhaug, Kari, Simonds, Anita, Tseng, Brian, Vajsar, Jiri, Vianello, Andrea, Zeller, Reinhard

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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions حسب Olivé, 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, Núria, Hofbauer, Stefan, Obinger, Christian, Battistuzzi, Gianantonio, Bellei, Marzia, Borsari, Marco, Di Rocco, Giulia, Viola, Helena M., Hool, Livia C., Cladera, Josep, Lagerstedt-Robinson, Kristina, Xiang, Fengqing, Wredenberg, Anna, Miralles, Francesc, Baiges, Juan José, Malfatti, Edoardo, Romero, Norma B., Streichenberger, Nathalie, Vial, 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, Noemí, Ferrer, Isidre, Edström, Lars, Wedell, Anna, Laing, Nigel G.

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