Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study
Walter, Maggie C, Wenninger, Stephan, Thiele, Simone, Stauber, Julia, Hiebeler, Miriam, Greckl, Eva, Stahl, Kristina, Pechmann, Astrid, Lochmüller, Hanns, Kirschner, Janbernd, Schoser, Benedikt
Published in Journal of neuromuscular diseases (01.01.2019)
Published in Journal of neuromuscular diseases (01.01.2019)
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Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening
Glascock, Jacqueline, Sampson, Jacinda, Haidet-Phillips, Amanda, Connolly, Anne, Darras, Basil, Day, John, Finkel, Richard, Howell, R Rodney, Klinger, Katherine, Kuntz, Nancy, Prior, Thomas, Shieh, Perry B, Crawford, Thomas O, Kerr, Douglas, Jarecki, Jill
Published in Journal of neuromuscular diseases (2018)
Published in Journal of neuromuscular diseases (2018)
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AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort
Al-Zaidy, Samiah A, Kolb, Stephen J, Lowes, Linda, Alfano, Lindsay N, Shell, Richard, Church, Kathleen R, Nagendran, Sukumar, Sproule, Douglas M, Feltner, Douglas E, Wells, Courtney, Ogrinc, Francis, Menier, Melissa, L'Italien, James, Arnold, W David, Kissel, John T, Kaspar, Brian K, Mendell, Jerry R
Published in Journal of neuromuscular diseases (2019)
Published in Journal of neuromuscular diseases (2019)
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Journal Article
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2
Glascock, Jacqueline, Sampson, Jacinda, Connolly, Anne M, Darras, Basil T, Day, John W, Finkel, Richard, Howell, R Rodney, Klinger, Katherine W, Kuntz, Nancy, Prior, Thomas, Shieh, Perry B, Crawford, Thomas O, Kerr, Douglas, Jarecki, Jill
Published in Journal of neuromuscular diseases (01.01.2020)
Published in Journal of neuromuscular diseases (01.01.2020)
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Molecular Mechanisms of Skeletal Muscle Hypertrophy
Schiaffino, Stefano, Reggiani, Carlo, Akimoto, Takayuki, Blaauw, Bert
Published in Journal of neuromuscular diseases (01.01.2021)
Published in Journal of neuromuscular diseases (01.01.2021)
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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Koeks, Zaïda, Bladen, Catherine L, Salgado, David, van Zwet, Erik, Pogoryelova, Oksana, McMacken, Grace, Monges, Soledad, Foncuberta, Maria E, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Bellgard, Matthew I, Roy, Anna J, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lähdetie, Jaana, Walter, Maggie C, Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Ferlini, Alessandra, Kimura, En, van den Bergen, Janneke C, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Klein, Andrea, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A Ayşe, Oznur, Tunca, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V, Martin, Ann S, Peay, Holly L, Kirschner, Jan, Flanigan, Kevin M, Straub, Volker, Bushby, Kate, Béroud, Christophe, Verschuuren, Jan J, Lochmüller, Hanns
Published in Journal of neuromuscular diseases (21.11.2017)
Published in Journal of neuromuscular diseases (21.11.2017)
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One Year of Newborn Screening for SMA - Results of a German Pilot Project
Vill, Katharina, Kölbel, Heike, Schwartz, Oliver, Blaschek, Astrid, Olgemöller, Bernhard, Harms, Erik, Burggraf, Siegfried, Röschinger, Wulf, Durner, Jürgen, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Schara, Ulrike, Jensen, Beate, Becker, Marc, Hohenfellner, Katharina, Müller-Felber, Wolfgang
Published in Journal of neuromuscular diseases (01.01.2019)
Published in Journal of neuromuscular diseases (01.01.2019)
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Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial
McDonald, Craig M, Shieh, Perry B, Abdel-Hamid, Hoda Z, Connolly, Anne M, Ciafaloni, Emma, Wagner, Kathryn R, Goemans, Nathalie, Mercuri, Eugenio, Khan, Navid, Koenig, Erica, Malhotra, Jyoti, Zhang, Wenfei, Han, Baoguang, Mendell, Jerry R
Published in Journal of neuromuscular diseases (01.01.2021)
Published in Journal of neuromuscular diseases (01.01.2021)
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Exon-Skipping in Duchenne Muscular Dystrophy
Takeda, Shin'ichi, Clemens, Paula R, Hoffman, Eric P
Published in Journal of neuromuscular diseases (30.11.2021)
Published in Journal of neuromuscular diseases (30.11.2021)
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Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany
Pechmann, Astrid, Langer, Thorsten, Schorling, David, Stein, Sabine, Vogt, Sibylle, Schara, Ulrike, Kölbel, Heike, Schwartz, Oliver, Hahn, Andreas, Giese, Kerstin, Johannsen, Jessika, Denecke, Jonas, Weiß, Claudia, Theophil, Manuela, Kirschner, Janbernd
Published in Journal of neuromuscular diseases (2018)
Published in Journal of neuromuscular diseases (2018)
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Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials
Carlier, Pierre G, Marty, Benjamin, Scheidegger, Olivier, Loureiro de Sousa, Paulo, Baudin, Pierre-Yves, Snezhko, Eduard, Vlodavets, Dmitry
Published in Journal of neuromuscular diseases (03.03.2016)
Published in Journal of neuromuscular diseases (03.03.2016)
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Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy
Clemens, Paula R, Rao, Vamshi K, Connolly, Anne M, Harper, Amy D, Mah, Jean K, McDonald, Craig M, Smith, Edward C, Zaidman, Craig M, Nakagawa, Tomoyuki, Hoffman, Eric P
Published in Journal of neuromuscular diseases (01.01.2022)
Published in Journal of neuromuscular diseases (01.01.2022)
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Increasing Role of Titin Mutations in Neuromuscular Disorders
Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Udd, Bjarne, Hackman, Peter
Published in Journal of neuromuscular diseases (30.08.2016)
Published in Journal of neuromuscular diseases (30.08.2016)
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Journal Article
Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular Dystrophy
Khan, Navid, Eliopoulos, Helen, Han, Lixin, Kinane, T Bernard, Lowes, Linda P, Mendell, Jerry R, Gordish-Dressman, Heather, Henricson, Erik K, McDonald, Craig M
Published in Journal of neuromuscular diseases (01.01.2019)
Published in Journal of neuromuscular diseases (01.01.2019)
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Advancements in AAV-mediated Gene Therapy for Pompe Disease
Salabarria, S M, Nair, J, Clement, N, Smith, B K, Raben, N, Fuller, D D, Byrne, B J, Corti, M
Published in Journal of neuromuscular diseases (01.01.2020)
Published in Journal of neuromuscular diseases (01.01.2020)
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