{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T20:10:40Z","timestamp":1791835840295,"version":"4.3.4"},"reference-count":76,"publisher":"SAGE Publications","issue":"s2","license":[{"start":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T00:00:00Z","timestamp":1638230400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2021,11,30]]},"abstract":"<jats:p>Duchenne muscular dystrophy (DMD) is a devastating, rare disease. While clinically described in the 19th century, the genetic foundation of DMD was not discovered until more than 100 years later. This genetic understanding opened the door to the development of genetic treatments for DMD. Over the course of the last 30 years, the research that supports this development has moved into the realm of clinical trials and regulatory drug approvals. Exon skipping to therapeutically restore the frame of an out-of-frame dystrophin mutation has taken center stage in drug development for DMD. The research reviewed here focuses on the clinical development of exon skipping for the treatment of DMD. In addition to the generation of clinical treatments that are being used for patient care, this research sets the stage for future therapeutic development with a focus on increasing efficacy while providing safety and addressing the multi-systemic aspects of DMD.<\/jats:p>","DOI":"10.3233\/jnd-210682","type":"journal-article","created":{"date-parts":[[2021,6,26]],"date-time":"2021-06-26T05:22:48Z","timestamp":1624684968000},"page":"S343-S358","source":"Crossref","is-referenced-by-count":93,"title":["Exon-Skipping in Duchenne Muscular Dystrophy"],"prefix":"10.1177","volume":"8","author":[{"given":"Shin\u2019ichi","family":"Takeda","sequence":"first","affiliation":[{"name":"Honorary Director General, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula R.","family":"Clemens","sequence":"additional","affiliation":[{"name":"Professor and Vice Chair of VA Affairs, Department of Neurology, University of Pittsburgh School of Medicine, Division Chief, Neurology, Medical Service Line, VA Pittsburgh Healthcare System, Pittsburgh, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric P.","family":"Hoffman","sequence":"additional","affiliation":[{"name":"Professor, Department of Pharmaceutical Sciences, School of Pharmacy and Pharmaceutical Sciences, Binghamton University \u2013 State University of New York, Binghamton, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"issue":"12","key":"10.3233\/JND-210682_ref1","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","article-title":"Dystrophin and mutations: One gene, several proteins, multiple phenotypes","volume":"2","author":"Muntoni","year":"2003","journal-title":"Lancet Neurol"},{"issue":"3","key":"10.3233\/JND-210682_ref2","doi-asserted-by":"publisher","first-page":"1223","DOI":"10.1002\/cphy.c140048","article-title":"The Dystrophin Complex: Structure, Function, and Implications for Therapy","volume":"5","author":"Gao","year":"2015","journal-title":"Compr Physiol"},{"issue":"1-2","key":"10.3233\/JND-210682_ref3","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1007\/s004399900111","article-title":"Duchenne\/Becker muscular dystrophy: Correlation of phenotype by electroretinography with sites of dystrophin mutations","volume":"105","author":"Pillers","year":"1999","journal-title":"Hum Genet"},{"key":"10.3233\/JND-210682_ref4","doi-asserted-by":"publisher","first-page":"104489","DOI":"10.1016\/j.neuint.2019.104489","article-title":"The long dystrophin gene product Dp427 modulates retinal function and vascular morphology in response to age and retinal ischemia","volume":"129","author":"Bucher","year":"2019","journal-title":"Neurochem Int"},{"issue":"1","key":"10.3233\/JND-210682_ref5","doi-asserted-by":"publisher","first-page":"e8803","DOI":"10.1371\/journal.pone.0008803","article-title":"Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy","volume":"5","author":"Taylor","year":"2010","journal-title":"PLoS One"},{"issue":"3","key":"10.3233\/JND-210682_ref6","doi-asserted-by":"publisher","first-page":"1748","DOI":"10.1007\/s12035-019-01845-w","article-title":"Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy","volume":"57","author":"Naidoo","year":"2020","journal-title":"Mol Neurobiol"},{"issue":"1","key":"10.3233\/JND-210682_ref7","doi-asserted-by":"publisher","first-page":"12575","DOI":"10.1038\/s41598-017-12981-5","article-title":"Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy","volume":"7","author":"Doorenweerd","year":"2017","journal-title":"Sci Rep"},{"issue":"8","key":"10.3233\/JND-210682_ref8","doi-asserted-by":"publisher","first-page":"1011","DOI":"10.1212\/wnl.39.8.1011","article-title":"Improved diagnosis of Becker muscular dystrophy by dystrophin testing","volume":"39","author":"Hoffman","year":"1989","journal-title":"Neurology"},{"issue":"Pt 12","key":"10.3233\/JND-210682_ref9","doi-asserted-by":"publisher","first-page":"3547","DOI":"10.1093\/brain\/awr291","article-title":"Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials","volume":"134","author":"Anthony","year":"2011","journal-title":"Brain"},{"issue":"3","key":"10.3233\/JND-210682_ref10","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1002\/mus.27011","article-title":"The CINRG Becker Natural History Study: Baseline characteristics","volume":"62","author":"Clemens","year":"2020","journal-title":"Muscle Nerve"},{"issue":"1","key":"10.3233\/JND-210682_ref11","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1001\/jamaneurol.2013.4908","article-title":"Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping","volume":"71","author":"Anthony","year":"2014","journal-title":"JAMA Neurol"},{"issue":"2","key":"10.3233\/JND-210682_ref12","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1002\/ana.25951","article-title":"Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy","volume":"89","author":"de Feraudy","year":"2021","journal-title":"Ann Neurol"},{"issue":"1","key":"10.3233\/JND-210682_ref13","doi-asserted-by":"publisher","first-page":"46","DOI":"10.3390\/jpm11010046","article-title":"A Genotype-Phenotype Correlation Study of Exon Skip-Equivalent In-Frame Deletions and Exon Skip-Amenable Out-of-Frame Deletions across the DMD Gene to Simulate the Effects of Exon-Skipping Therapies: A Meta-Analysis","volume":"11","author":"Anwar","year":"2021","journal-title":"J Pers Med"},{"issue":"5","key":"10.3233\/JND-210682_ref14","doi-asserted-by":"publisher","first-page":"649","DOI":"10.3390\/jcm8050649","article-title":"The \u201cUsual Suspects\u201d: Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy","volume":"8","author":"Bello","year":"2019","journal-title":"J Clin Med"},{"issue":"8","key":"10.3233\/JND-210682_ref15","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1111\/dmcn.13460","article-title":"Variations in Duchenne muscular dystrophy course in a multi-ethnic UK population: Potential influence of socio-economic factors","volume":"59","author":"Hufton","year":"2017","journal-title":"Dev Med Child Neurol"},{"issue":"2","key":"10.3233\/JND-210682_ref16","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1007\/BF00858725","article-title":"The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history","volume":"240","author":"Bushby","year":"1993","journal-title":"J Neurol"},{"issue":"1","key":"10.3233\/JND-210682_ref17","doi-asserted-by":"publisher","first-page":"16060","DOI":"10.1038\/s41598-017-16170-2","article-title":"Muscle MRI and functional outcome measures in Becker muscular dystrophy","volume":"7","author":"Barp","year":"2017","journal-title":"Sci Rep"},{"issue":"7","key":"10.3233\/JND-210682_ref18","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1136\/jnnp-2013-306350","article-title":"Dystrophin levels and clinical severity in Becker muscular dystrophy patients","volume":"85","author":"van den Bergen","year":"2014","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"25","key":"10.3233\/JND-210682_ref19","doi-asserted-by":"publisher","first-page":"13714","DOI":"10.1073\/pnas.240335297","article-title":"Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model","volume":"97","author":"Wang","year":"2000","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"10.3233\/JND-210682_ref20","doi-asserted-by":"publisher","first-page":"1265","DOI":"10.1016\/S0006-291X(02)00362-5","article-title":"Micro-dystrophin cDNA ameliorates dystrophic phenotypes when introduced into mdx mice as a transgene","volume":"293","author":"Sakamoto","year":"2002","journal-title":"Biochem Biophys Res Commun"},{"issue":"5","key":"10.3233\/JND-210682_ref21","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1016\/j.ymthe.2004.07.025","article-title":"AAV vector-mediated microdystrophin expression in a relatively small percentage of mdx myofibers improved the mdx phenotype","volume":"10","author":"Yoshimura","year":"2004","journal-title":"Mol Ther"},{"issue":"6","key":"10.3233\/JND-210682_ref22","doi-asserted-by":"publisher","first-page":"1160","DOI":"10.1038\/sj.mt.6300161","article-title":"Sustained AAV-mediated dystrophin expression in a canine model of Duchenne muscular dystrophy with a brief course of immunosuppression","volume":"15","author":"Wang","year":"2007","journal-title":"Mol Ther"},{"issue":"9","key":"10.3233\/JND-210682_ref23","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1002\/jgm.1602","article-title":"Long-term functional adeno-associated virus-microdystrophin expression in the dystrophic CXMDj dog","volume":"13","author":"Koo","year":"2011","journal-title":"J Gene Med"},{"issue":"20","key":"10.3233\/JND-210682_ref24","doi-asserted-by":"publisher","first-page":"5880","DOI":"10.1093\/hmg\/ddv310","article-title":"Safe and bodywide muscle transduction in young adult Duchenne muscular dystrophy dogs with adeno-associated virus","volume":"24","author":"Yue","year":"2015","journal-title":"Hum Mol Genet"},{"issue":"9","key":"10.3233\/JND-210682_ref25","doi-asserted-by":"publisher","first-page":"1122","DOI":"10.1001\/jamaneurol.2020.1484","article-title":"Assessment of Systemic Delivery of rAAVrh74. MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy: A Nonrandomized Controlled Trial","volume":"77","author":"Mendell","year":"2020","journal-title":"JAMA Neurol"},{"issue":"1","key":"10.3233\/JND-210682_ref26","doi-asserted-by":"publisher","first-page":"e2031851","DOI":"10.1001\/jamanetworkopen.2020.31851","article-title":"Assessment of rAAVrh. 74.MHCK7.micro-dystrophin Gene Therapy Using Magnetic Resonance Imaging in Children With Duchenne Muscular Dystrophy","volume":"4","author":"Willcocks","year":"2021","journal-title":"JAMA Netw Open"},{"key":"10.3233\/JND-210682_ref27","doi-asserted-by":"publisher","first-page":"658399","DOI":"10.3389\/fimmu.2021.658399","article-title":"Anti-AAV Antibodies in AAV Gene Therapy: Current Challenges and Possible Solutions","volume":"12","author":"Weber T","year":"2021","journal-title":"Front Immunol"},{"issue":"1","key":"10.3233\/JND-210682_ref28","doi-asserted-by":"publisher","first-page":"15","DOI":"10.3233\/JND-190426","article-title":"Advancements in AAV-mediated Gene Therapy for Pompe Disease","volume":"7","author":"Salabarria","year":"2020","journal-title":"J Neuromuscul Dis"},{"issue":"14","key":"10.3233\/JND-210682_ref29","doi-asserted-by":"publisher","first-page":"973","DOI":"10.2217\/cer-2020-0095","article-title":"Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy","volume":"9","author":"Campbell","year":"2020","journal-title":"J Comp Eff Res"},{"key":"10.3233\/JND-210682_ref30","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2020.286"},{"issue":"28","key":"10.3233\/JND-210682_ref31","doi-asserted-by":"publisher","first-page":"16456","DOI":"10.1073\/pnas.1910456117","article-title":"Premature termination codons in the DMD gene cause reduced local mRNA synthesis","volume":"117","author":"Garc\u00eda-Rodr\u00edguez","year":"2020","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"10.3233\/JND-210682_ref32","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1073\/pnas.011408598","article-title":"Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse","volume":"98","author":"Mann","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"8","key":"10.3233\/JND-210682_ref33","doi-asserted-by":"publisher","first-page":"1009","DOI":"10.1038\/nm897","article-title":"Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse","volume":"9","author":"Lu","year":"2003","journal-title":"Nat Med"},{"issue":"2","key":"10.3233\/JND-210682_ref34","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1038\/nm1345","article-title":"Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology","volume":"12","author":"Alter","year":"2006","journal-title":"Nat Med"},{"issue":"1","key":"10.3233\/JND-210682_ref35","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1016\/j.ajpath.2011.03.050","article-title":"Restoring dystrophin expression in duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through","volume":"179","author":"Hoffman","year":"2011","journal-title":"Am J Pathol"},{"issue":"3","key":"10.3233\/JND-210682_ref36","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1002\/jgm.1288","article-title":"In vivo comparison of 2\u2019-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping","volume":"11","author":"Heemskerk","year":"2009","journal-title":"J Gene Med"},{"issue":"1","key":"10.3233\/JND-210682_ref37","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1038\/s41467-017-00924-7","article-title":"Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle","volume":"8","author":"Novak","year":"2017","journal-title":"Nat Commun"},{"issue":"1","key":"10.3233\/JND-210682_ref38","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1038\/gt.2009.120","article-title":"Dose-dependent restoration of dystrophin expression in cardiac muscle of dystrophic mice by systemically delivered morpholino","volume":"17","author":"Wu","year":"2010","journal-title":"Gene Ther"},{"issue":"6","key":"10.3233\/JND-210682_ref39","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1002\/ana.21627","article-title":"Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs","volume":"65","author":"Yokota","year":"2009","journal-title":"Ann Neurol"},{"issue":"8","key":"10.3233\/JND-210682_ref40","doi-asserted-by":"publisher","first-page":"982","DOI":"10.1001\/jamaneurol.2020.1264","article-title":"Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial","volume":"77","author":"Clemens","year":"2020","journal-title":"JAMA Neurol"},{"issue":"12","key":"10.3233\/JND-210682_ref41","doi-asserted-by":"publisher","first-page":"2393","DOI":"10.1002\/acn3.51235","article-title":"Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1\/2 study","volume":"7","author":"Komaki","year":"2020","journal-title":"Ann Clin Transl Neurol"},{"issue":"26","key":"10.3233\/JND-210682_ref42","doi-asserted-by":"publisher","first-page":"2677","DOI":"10.1056\/NEJMoa073108","article-title":"Local dystrophin restoration with antisense oligonucleotide PRO051","volume":"357","author":"van Deutekom","year":"2007","journal-title":"N Engl J Med"},{"issue":"16","key":"10.3233\/JND-210682_ref43","doi-asserted-by":"publisher","first-page":"1513","DOI":"10.1056\/NEJ-Moa1011367","article-title":"Systemic administration of PRO051 in Duchenne\u2019s muscular dystrophy","volume":"364","author":"Goemans","year":"2011","journal-title":"N Engl J Med"},{"issue":"3","key":"10.3233\/JND-210682_ref44","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1016\/j.nmd.2016.11.013","article-title":"Comparison of ambulatory capacity and disease progression of Duchenne muscular dystrophy subjects enrolled in the drisapersen DMD73 study with a matched natural history cohort of subjects on daily corticosteroids","volume":"27","author":"Goemans","year":"2017","journal-title":"Neuromuscul Disord"},{"issue":"10","key":"10.3233\/JND-210682_ref45","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1016\/S1474-4422(14)70195-4","article-title":"Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): An exploratory, randomised, placebo-controlled phase 2 study","volume":"13","author":"Voit","year":"2014","journal-title":"Lancet Neurol"},{"issue":"8","key":"10.3233\/JND-210682_ref46","doi-asserted-by":"publisher","first-page":"913","DOI":"10.1002\/acn3.579","article-title":"Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy","volume":"5","author":"McDonald","year":"2018","journal-title":"Ann Clin Transl Neurol"},{"issue":"1","key":"10.3233\/JND-210682_ref47","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.nmd.2017.10.004","article-title":"A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide drisapersen, in Duchenne muscular dystrophy","volume":"28","author":"Goemans","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"2","key":"10.3233\/JND-210682_ref48","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1007\/s00431-018-3272-1","article-title":"Injection site reactions after long-term subcutaneous delivery of drisapersen: A retrospective study","volume":"178","author":"Hilhorst","year":"2019","journal-title":"Eur J Pediatr"},{"issue":"10","key":"10.3233\/JND-210682_ref49","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1016\/S1474-4422(09)70211-X","article-title":"Local restoration of dystrophin expression with the morpholino oligomer AVI-in Duchenne muscular dystrophy: A single-blind, placebo-controlled, dose-escalation, proof-of-concept study","volume":"8","author":"Kinali","year":"2009","journal-title":"Lancet Neurol"},{"issue":"9791","key":"10.3233\/JND-210682_ref50","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1016\/S0140-6736(11)60756-3","article-title":"Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: An open-label, phase 2, dose-escalation study","volume":"378","author":"Cirak","year":"2011","journal-title":"Lancet"},{"issue":"2","key":"10.3233\/JND-210682_ref51","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1038\/mt.2011.248","article-title":"Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy","volume":"20","author":"Cirak","year":"2012","journal-title":"Mol Ther"},{"issue":"5","key":"10.3233\/JND-210682_ref52","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1002\/ana.23982","article-title":"Eteplirsen for the treatment of Duchenne muscular dystrophy","volume":"74","author":"Mendell","year":"2013","journal-title":"Ann Neurol"},{"issue":"24","key":"10.3233\/JND-210682_ref53","doi-asserted-by":"publisher","first-page":"e2146","DOI":"10.1212\/WNL.0000000000005680","article-title":"Eteplirsen treatment for Duchenne muscular dystrophy: Exon skipping and dystrophin production","volume":"90","author":"Charleston","year":"2146","journal-title":"Neurology"},{"issue":"22","key":"10.3233\/JND-210682_ref55","doi-asserted-by":"publisher","first-page":"2357","DOI":"10.1001\/jama.2016.16437","article-title":"Approving a Problematic Muscular Dystrophy Drug: Implications for FDA Policy","volume":"316","author":"Kesselheim","year":"2016","journal-title":"JAMA"},{"issue":"10052","key":"10.3233\/JND-210682_ref56","doi-asserted-by":"publisher","first-page":"1350","DOI":"10.1016\/S0140-6736(16)31765-2","article-title":"Patient need versus evidence: A balancing act","volume":"388","author":"The Lancet","year":"2016","journal-title":"Lancet"},{"issue":"1","key":"10.3233\/JND-210682_ref57","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1002\/ana.24842","article-title":"Regarding \u201cEteplirsen for the treatment of Duchenne muscular dystrophy\u201d","volume":"81","author":"Unger","year":"2017","journal-title":"Ann Neurol"},{"issue":"11","key":"10.3233\/JND-210682_ref58","doi-asserted-by":"publisher","first-page":"2561","DOI":"10.1016\/j.ymthe.2017.07.014","article-title":"Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy","volume":"25","author":"Echigoya","year":"2017","journal-title":"Mol Ther"},{"issue":"1","key":"10.3233\/JND-210682_ref59","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1089\/nat.2018.0756","article-title":"A Sequel to the Eteplirsen Saga: Eteplirsen Is Approved in the United States but Was Not Approved in Europe","volume":"29","author":"Aartsma-Rus","year":"2019","journal-title":"Nucleic Acid Ther"},{"issue":"21","key":"10.3233\/JND-210682_ref60","doi-asserted-by":"publisher","first-page":"e2270","DOI":"10.1212\/WNL.0000000000009233","article-title":"Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy","volume":"94","author":"Frank","year":"2270","journal-title":"Neurology"},{"key":"10.3233\/JND-210682_ref62","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1016\/j.omtn.2018.09.017","article-title":"NS-065\/NCNP- An Antisense Oligonucleotide for Potential Treatment of Exon 53 Skipping in Duchenne Muscular Dystrophy","volume":"13","author":"Watanabe","year":"2018","journal-title":"Mol Ther Nucleic Acids"},{"issue":"437","key":"10.3233\/JND-210682_ref63","doi-asserted-by":"publisher","first-page":"eaan0713","DOI":"10.1126\/scitranslmed.aan0713","article-title":"Systemic administration of the antisense oligonucleotide NS-065\/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy","volume":"10","author":"Komaki","year":"2018","journal-title":"Sci Transl Med"},{"issue":"12","key":"10.3233\/JND-210682_ref64","doi-asserted-by":"publisher","first-page":"2393","DOI":"10.1002\/acn3.51235","article-title":"Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1\/2 study","volume":"7","author":"Komaki","year":"2020","journal-title":"Ann Clin Transl Neurol"},{"issue":"14","key":"10.3233\/JND-210682_ref65","doi-asserted-by":"publisher","first-page":"1209","DOI":"10.2217\/bmm-2019-0242","article-title":"Orthogonal analysis of dystrophin protein and mRNA as a surrogate outcome for drug development","volume":"13","author":"Uaesoontrachoon","year":"2019","journal-title":"Biomark Med"},{"issue":"1","key":"10.3233\/JND-210682_ref66","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1002\/mus.23807","article-title":"The cooperative international neuromuscular research group Duchenne natural history study\u2013a longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods used","volume":"48","author":"McDonald","year":"2013","journal-title":"Muscle Nerve"},{"issue":"10119","key":"10.3233\/JND-210682_ref67","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1016\/S0140-6736(17)32160-8","article-title":"Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: A prospective cohort study","volume":"391","author":"McDonald","year":"2018","journal-title":"Lancet"},{"key":"10.3233\/JND-210682_ref68","unstructured":"Hoffman EP and Clemens PR . Letter to the Editor. Annals Neurology in press."},{"issue":"9","key":"10.3233\/JND-210682_ref69","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1089\/hum.2008.157","article-title":"Dosing regimen has a significant impact on the efficiency of morpholino oligomer-induced exon skipping in mdx mice","volume":"20","author":"Malerba","year":"2009","journal-title":"Hum Gene Ther"},{"issue":"3","key":"10.3233\/JND-210682_ref70","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1002\/path.5263","article-title":"Morpholino-induced exon skipping stimulates cell-mediated and humoral responses to dystrophin in mdx mice","volume":"248","author":"Vila","year":"2019","journal-title":"J Pathol"},{"issue":"17","key":"10.3233\/JND-210682_ref71","doi-asserted-by":"publisher","first-page":"1249","DOI":"10.1038\/sj.gt.3302984","article-title":"Injection of a recombinant AAV serotype 2 into canine skeletal muscles evokes strong immune responses against transgene products","volume":"14","author":"Yuasa","year":"2007","journal-title":"Gene Ther"},{"issue":"4","key":"10.3233\/JND-210682_ref72","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1038\/mt.2015.5","article-title":"Intra-amniotic rAAV-mediated microdystrophin gene transfer improves canine X-linked muscular dystrophy and may induce immune tolerance","volume":"23","author":"Hayashita-Kinoh","year":"2015","journal-title":"Mol Ther"},{"key":"10.3233\/JND-210682_ref73","doi-asserted-by":"publisher","first-page":"15010","DOI":"10.1038\/mtm.2015.10","article-title":"Short-lived recombinant adeno-associated virus transgene expression in dystrophic muscle is associated with oxidative damage to transgene mRNA","volume":"2","author":"Dupont","year":"2015","journal-title":"Mol Ther Methods Clin Dev"},{"issue":"10","key":"10.3233\/JND-210682_ref74","doi-asserted-by":"publisher","first-page":"1678","DOI":"10.1016\/j.celrep.2015.07.066","article-title":"TNF-\u03b1-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy","volume":"12","author":"Fiorillo","year":"2015","journal-title":"Cell Rep"},{"issue":"7","key":"10.3233\/JND-210682_ref75","doi-asserted-by":"publisher","first-page":"1170","DOI":"10.1002\/art.41215","article-title":"Muscle Weakness in Myositis: MicroRNA-Mediated Dystrophin Reduction in a Myositis Mouse Model and Human Muscle Biopsies","volume":"72","author":"Kinder","year":"2020","journal-title":"Arthritis Rheumatol"},{"issue":"6","key":"10.3233\/JND-210682_ref76","doi-asserted-by":"publisher","first-page":"826","DOI":"10.1212\/01.wnl.0000173836.09176.c4","article-title":"Early onset of inflammation and later involvement of TGFbeta in Duchenne muscular dystrophy","volume":"65","author":"Chen","year":"2005","journal-title":"Neurology"},{"issue":"15","key":"10.3233\/JND-210682_ref77","doi-asserted-by":"publisher","first-page":"e1622","DOI":"10.1212\/WNL.0000000000009244","article-title":"Modeling disease trajectory in Duchenne muscular dystrophy","volume":"94","author":"Rooney","year":"2020","journal-title":"Neurology"},{"issue":"Pt 21","key":"10.3233\/JND-210682_ref78","doi-asserted-by":"publisher","first-page":"3654","DOI":"10.1242\/jcs.086629","article-title":"Fibrosis and adipogenesis originate from a common mesenchymal progenitor in skeletal muscle","volume":"124","author":"Uezumi","year":"2011","journal-title":"J Cell Sci"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"link":[{"URL":"https:\/\/content.iospress.com\/download?id=10.3233\/JND-210682","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:49:49Z","timestamp":1777506589000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/full\/10.3233\/JND-210682"}},"subtitle":[],"editor":[{"given":"Jyoti","family":"Jaiswal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]},{"given":"Kanneboyina","family":"Nagaraju","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2021,11,30]]},"references-count":76,"journal-issue":{"issue":"s2"},"URL":"https:\/\/doi.org\/10.3233\/jnd-210682","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,30]]}}}