Search Results - "Journal of neuromuscular diseases"

Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care by Schorling, David C, Pechmann, Astrid, Kirschner, Janbernd

“…Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neurons and progressive muscle weakness. The…”
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Current Classification and Management of Inflammatory Myopathies by Schmidt, Jens

“…Inflammatory disorders of the skeletal muscle include polymyositis (PM), dermatomyositis (DM), (immune mediated) necrotizing myopathy (NM), overlap syndrome…”
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Gene Therapy for Duchenne Muscular Dystrophy by Elangkovan, Nertiyan, Dickson, George

“…Duchenne muscular dystrophy (DMD) is an X-linked, muscle wasting disease that affects 1 in 5000 males. Affected individuals become wheelchair bound by the age…”
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Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study by Walter, Maggie C, Wenninger, Stephan, Thiele, Simone, Stauber, Julia, Hiebeler, Miriam, Greckl, Eva, Stahl, Kristina, Pechmann, Astrid, Lochmüller, Hanns, Kirschner, Janbernd, Schoser, Benedikt

“…Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease caused by loss of the SMN1 gene. Based on randomized clinical trials in…”
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Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening by 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

“…Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to…”
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AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort by 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

“…Spinal muscular atrophy type 1 (SMA1) is the leading genetic cause of infant mortality for which therapies, including AVXS-101 (onasemnogene abeparvovec,…”
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Molecular Mechanisms of Skeletal Muscle Hypertrophy by Schiaffino, Stefano, Reggiani, Carlo, Akimoto, Takayuki, Blaauw, Bert

“…Skeletal muscle hypertrophy can be induced by hormones and growth factors acting directly as positive regulators of muscle growth or indirectly by neutralizing…”
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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database by 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

“…Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than…”
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One Year of Newborn Screening for SMA - Results of a German Pilot Project by 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

“…Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. The study was conducted to assess the impact of early detection of SMA…”
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Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial by 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

“…BackgroundEteplirsen received accelerated FDA approval for treatment of Duchenne muscular dystrophy (DMD) with mutations amenable to exon 51 skipping, based on…”
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Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany by 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

“…Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle weakness and muscle atrophy. Nusinersen acts as a splicing modifier and has…”
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Exon-Skipping in Duchenne Muscular Dystrophy by Takeda, Shin'ichi, Clemens, Paula R, Hoffman, Eric P

“…Duchenne muscular dystrophy (DMD) is a devastating, rare disease. While clinically described in the 19th century, the genetic foundation of DMD was not…”
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Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials by Carlier, Pierre G, Marty, Benjamin, Scheidegger, Olivier, Loureiro de Sousa, Paulo, Baudin, Pierre-Yves, Snezhko, Eduard, Vlodavets, Dmitry

“…Recent years have seen tremendous progress towards therapy of many previously incurable neuromuscular diseases. This new context has acted as a driving force…”
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Anti-HMGCR Myopathy by Mohassel, Payam, Mammen, Andrew L

“…Anti-HMGCR myopathy was first recognized and characterized in patients with a history of statin exposure and immune-mediated necrotizing myopathy. After the…”
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Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden? by Müller-Felber, Wolfgang, Vill, Katharina, Schwartz, Oliver, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Durner, Jürgen, Eggermann, Katja, Müller, Christine, Hannibal, Iris, Olgemöller, Bernd, Schara, Ulrike, Blaschek, Astrid, Kölbel, Heike

“…Although the value of newborn screening (NBS) for early detection and treatment opportunity in SMA patients is generally accepted, there is still an ongoing…”
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A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment by Mitelman, Olga, Abdel-Hamid, Hoda Z, Byrne, Barry J, Connolly, Anne M, Heydemann, Peter, Proud, Crystal, Shieh, Perry B, Wagner, Kathryn R, Dugar, Ashish, Santra, Sourav, Signorovitch, James, Goemans, Nathalie, McDonald, Craig M, Mercuri, Eugenio, Mendell, Jerry R

“…Studies 4658-201/202 (201/202) evaluated treatment effects of eteplirsen over 4 years in patients with Duchenne muscular dystrophy and confirmed exon-51…”
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Increasing Role of Titin Mutations in Neuromuscular Disorders by Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Udd, Bjarne, Hackman, Peter

“…The TTN gene with 363 coding exons encodes titin, a giant muscle protein spanning from the Z-disk to the M-band within the sarcomere. Mutations in the TTN gene…”
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Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular Dystrophy by Khan, Navid, Eliopoulos, Helen, Han, Lixin, Kinane, T Bernard, Lowes, Linda P, Mendell, Jerry R, Gordish-Dressman, Heather, Henricson, Erik K, McDonald, Craig M

“…Duchenne muscular dystrophy (DMD) patients experience skeletal muscle degeneration, including respiratory muscles. Respiratory decline in…”
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Prospective Cohort Study of Nusinersen Treatment in Adults with Spinal Muscular Atrophy by Yeo, Crystal Jing Jing, Simeone, Sarah D, Townsend, Elise L, Zhang, Ren Zhe, Swoboda, Kathryn J

“…The impact of nusinersen therapy on outcomes in adults with Spinal Muscular Atrophy (SMA) remains uncertain. To demonstrate whether nusinersen therapy, at…”
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Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study by 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

“…Duchenne muscular dystrophy (DMD) is caused by DMD gene mutations, resulting in absence of functional dystrophin protein. Viltolarsen, an exon 53 skipping…”
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