{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:11:57Z","timestamp":1790514717077,"version":"4.1.0"},"reference-count":83,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Pharmacology &amp; Therapeutics"],"published-print":{"date-parts":[[2021,4]]},"DOI":"10.1016\/j.pharmthera.2020.107719","type":"journal-article","created":{"date-parts":[[2020,10,29]],"date-time":"2020-10-29T20:16:30Z","timestamp":1604002590000},"page":"107719","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":69,"special_numbering":"C","title":["Current and emerging therapies for Duchenne muscular dystrophy and spinal muscular atrophy"],"prefix":"10.1016","volume":"220","author":[{"given":"Mohsan","family":"Iftikhar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin","family":"Frey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Md.Jasimuddin","family":"Shohan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sohail","family":"Malek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaker A.","family":"Mousa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.pharmthera.2020.107719_bb0005","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/j.pmr.2012.06.001","article-title":"Exercise in neuromuscular diseases","volume":"23","author":"Abresch","year":"2012","journal-title":"Physical Medicine and Rehabilitation Clinics of North America"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0010","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1002\/mus.24451","article-title":"Different types of upper extremity exercise training in Duchenne muscular dystrophy: Effects on functional performance, strength, endurance, and ambulation","volume":"51","author":"Alemdaroglu","year":"2015","journal-title":"Muscle & Nerve"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0015","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/ana.24303","article-title":"A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield","volume":"77","author":"Ankala","year":"2015","journal-title":"Annals of Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0020","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/j.pmr.2012.06.002","article-title":"A practical approach to molecular diagnostic testing in neuromuscular diseases","volume":"23","author":"Arnold","year":"2012","journal-title":"Physical Medicine and Rehabilitation Clinics of North America"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0025","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.24497","article-title":"Spinal muscular atrophy: Diagnosis and management in a new therapeutic era","volume":"51","author":"Arnold","year":"2015","journal-title":"Muscle & Nerve"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0030","author":"AveXis Inc."},{"key":"10.1016\/j.pharmthera.2020.107719_bb0035","doi-asserted-by":"crossref","first-page":"744","DOI":"10.4187\/respcare.00831","article-title":"Duchenne muscular dystrophy: Continuous noninvasive ventilatory support prolongs survival","volume":"56","author":"Bach","year":"2011","journal-title":"Respiratory Care"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0040","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1177\/0883073815570154","article-title":"Cognitive and neurobehavioral profile in boys with Duchenne muscular dystrophy","volume":"30","author":"Banihani","year":"2015","journal-title":"Journal of Child Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0045","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/j.nmd.2016.07.002","article-title":"Histological effects of givinostat in boys with Duchenne muscular dystrophy","volume":"26","author":"Bettica","year":"2016","journal-title":"Neuromuscular Disorders"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0050","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/S1474-4422(18)30025-5","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 2: Respiratory, cardiac, bone health, and orthopaedic management","volume":"17","author":"Birnkrant","year":"2018","journal-title":"Lancet Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0055","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/S1474-4422(18)30024-3","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management","volume":"17","author":"Birnkrant","year":"2018","journal-title":"Lancet Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0060","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/S1474-4422(18)30026-7","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 3: Primary care, emergency management, psychosocial care, and transitions of care across the lifespan","volume":"17","author":"Birnkrant","year":"2018","journal-title":"Lancet Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0065","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/humu.22758","article-title":"The TREAT-NMD DMD global database: Analysis of more than 7,000 Duchenne muscular dystrophy mutations","volume":"36","author":"Bladen","year":"2015","journal-title":"Human Mutation"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0070","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1186\/1471-2164-9-572","article-title":"A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies","volume":"9","author":"Bovolenta","year":"2008","journal-title":"BMC Genomics"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0075","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/S1474-4422(09)70272-8","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 2: Implementation of multidisciplinary care","volume":"9","author":"Bushby","year":"2010","journal-title":"Lancet Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0080","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1002\/mus.24332","article-title":"Ataluren treatment of patients with nonsense mutation dystrophinopathy","volume":"50","author":"Bushby","year":"2014","journal-title":"Muscle & Nerve"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0085","doi-asserted-by":"crossref","first-page":"7","DOI":"10.3389\/fmolb.2016.00007","article-title":"Copy number variations in the survival motor neuron genes: Implications for spinal muscular atrophy and other neurodegenerative diseases","volume":"3","author":"Butchbach","year":"2016","journal-title":"Frontiers in Molecular Biosciences"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0090","author":"Centers for Disease Control and Prevention"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0095","doi-asserted-by":"crossref","DOI":"10.1002\/14651858.CD005375.pub4","article-title":"Surgery for scoliosis in Duchenne muscular dystrophy","author":"Cheuk","year":"2015","journal-title":"Cochrane Database of Systematic Reviews"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0100","doi-asserted-by":"crossref","first-page":"19183","DOI":"10.1073\/pnas.0805514105","article-title":"HDAC2 blockade by nitric oxide and histone deacetylase inhibitors reveals a common target in Duchenne muscular dystrophy treatment","volume":"105","author":"Colussi","year":"2008","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0105","doi-asserted-by":"crossref","first-page":"79","DOI":"10.2119\/molmed.2013.00011","article-title":"Preclinical studies in the mdx mouse model of duchenne muscular dystrophy with the histone deacetylase inhibitor givinostat","volume":"19","author":"Consalvi","year":"2013","journal-title":"Molecular Medicine"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0110","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0960-8966(99)00055-3","article-title":"Neuromuscular disorders in childhood: A descriptive epidemiological study from western Sweden","volume":"10","author":"Darin","year":"2000","journal-title":"Neuromuscular Disorders"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0115","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1016\/j.pcl.2015.03.010","article-title":"Spinal muscular atrophies","volume":"62","author":"Darras","year":"2015","journal-title":"Pediatric Clinics of North America"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0120","doi-asserted-by":"crossref","first-page":"35","DOI":"10.3233\/PRM-160360","article-title":"Physical therapy services received by individuals with spinal muscular atrophy (SMA)","volume":"9","author":"Dunaway","year":"2016","journal-title":"Journal of Pediatric Rehabilitation Medicine"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0125","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1016\/S0960-8966(02)00140-2","article-title":"Survival in Duchenne muscular dystrophy: Improvements in life expectancy since 1967 and the impact of home nocturnal ventilation","volume":"12","author":"Eagle","year":"2002","journal-title":"Neuromuscular Disorders"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0130","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1212\/WNL.0b013e318227b164","article-title":"Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy","volume":"77","author":"Escolar","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0135","doi-asserted-by":"crossref","first-page":"18168","DOI":"10.3390\/molecules201018168","article-title":"Duchenne muscular dystrophy: From diagnosis to therapy","volume":"20","author":"Falzarano","year":"2015","journal-title":"Molecules"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0140","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1002\/ana.24864","article-title":"Emerging therapies and challenges in spinal muscular atrophy","volume":"81","author":"Farrar","year":"2017","journal-title":"Annals of Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0145","author":"FDA"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0150","author":"FDA"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0155","series-title":"Molecular genetics of dystrophinopathies; eLS","author":"Ferlini","year":"2014"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0160","doi-asserted-by":"crossref","first-page":"43","DOI":"10.3233\/JND-180341","article-title":"Phase 1 study of edasalonexent (CAT-1004), an oral NF-kappaB inhibitor, in pediatric patients with Duchenne muscular dystrophy","volume":"6","author":"Finanger","year":"2018","journal-title":"Journal of Neuromuscular Diseases"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0165","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1002\/ana.24365","article-title":"Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45","volume":"77","author":"Findlay","year":"2015","journal-title":"Annals of Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0170","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus sham control in infantile-onset spinal muscular atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"New England Journal of Medicine"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0175","author":"Genentech Inc."},{"key":"10.1016\/j.pharmthera.2020.107719_bb0180","doi-asserted-by":"crossref","first-page":"6680","DOI":"10.1038\/sj.onc.1209954","article-title":"Introduction to NF-\u03baB: Players, pathways, perspectives","volume":"25","author":"Gilmore","year":"2006","journal-title":"Oncogene"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0185","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1097\/PEP.0b013e318227c4e3","article-title":"Serial casting for the management of ankle contracture in Duchenne muscular dystrophy","volume":"23","author":"Glanzman","year":"2011","journal-title":"Pediatric Physical Therapy"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0190","author":"GlaxoSmithKline"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0195","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1097\/00002060-200206000-00003","article-title":"Duchenne muscular dystrophy: Prolongation of life by noninvasive ventilation and mechanically assisted coughing","volume":"81","author":"Gomez-Merino","year":"2002","journal-title":"American Journal of Physical Medicine & Rehabilitation"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0200","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1146\/annurev-genom-090314-025003","article-title":"The pathogenesis and therapy of muscular dystrophies","volume":"16","author":"Guiraud","year":"2015","journal-title":"Annual Review of Genomics and Human Genetics"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0205","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1002\/humu.20831","article-title":"Microarray-based mutation detection in the dystrophin gene","volume":"29","author":"Hegde","year":"2008","journal-title":"Human Mutation"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0210","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1002\/emmm.201302621","article-title":"VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects","volume":"5","author":"Heier","year":"2013","journal-title":"EMBO Molecular Medicine"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0215","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.pediatrneurol.2005.08.029","article-title":"Are males with Duchenne muscular dystrophy at risk for reading disabilities?","volume":"34","author":"Hendriksen","year":"2006","journal-title":"Pediatric Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0220","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1177\/0883073807309775","article-title":"Neuropsychiatric disorders in males with duchenne muscular dystrophy: Frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive--compulsive disorder","volume":"23","author":"Hendriksen","year":"2008","journal-title":"Journal of Child Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0225","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1093\/jn\/135.2.317","article-title":"Circulating 25-hydroxyvitamin D levels indicative of vitamin D sufficiency: Implications for establishing a new effective dietary intake recommendation for vitamin D","volume":"135","author":"Hollis","year":"2005","journal-title":"The Journal of Nutrition"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0230","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.nmd.2010.09.006","article-title":"Duchenne muscular dystrophy: Survival by cardio-respiratory interventions","volume":"21","author":"Ishikawa","year":"2011","journal-title":"Neuromuscular Disorders"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0235","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1177\/1545968313496326","article-title":"Assisted bicycle training delays functional deterioration in boys with Duchenne muscular dystrophy: The randomized controlled trial \u201cno use is disuse\u201d","volume":"27","author":"Jansen","year":"2013","journal-title":"Neurorehabilitation and Neural Repair"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0240","doi-asserted-by":"crossref","first-page":"2799","DOI":"10.1161\/CIRCULATIONAHA.104.528281","article-title":"Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy","volume":"112","author":"Jefferies","year":"2005","journal-title":"Circulation"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0245","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/ppul.22548","article-title":"Respiratory management strategies for Duchenne muscular dystrophy: Practice variation amongst Canadian sub-specialists","volume":"48","author":"Katz","year":"2013","journal-title":"Pediatric Pulmonology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0250","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1002\/ana.25101","article-title":"Natural history of infantile-onset spinal muscular atrophy","volume":"82","author":"Kolb","year":"2017","journal-title":"Annals of Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0255","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","article-title":"Spinal muscular atrophy","volume":"33","author":"Kolb","year":"2015","journal-title":"Neurologic Clinics"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0260","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1111\/dmcn.14129","article-title":"A new era in the management of Duchenne muscular dystrophy","volume":"61","author":"Korinthenberg","year":"2018","journal-title":"Developmental Medicine and Child Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0265","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0270","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1002\/mus.24568","article-title":"Resistance strength training exercise in children with spinal muscular atrophy","volume":"52","author":"Lewelt","year":"2015","journal-title":"Muscle & Nerve"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0275","doi-asserted-by":"crossref","first-page":"e5","DOI":"10.1155\/2013\/406163","article-title":"Twenty-four hour noninvasive ventilation in Duchenne muscular dystrophy: A safe alternative to tracheostomy","volume":"20","author":"McKim","year":"2013","journal-title":"Canadian Respiratory Journal"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0280","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.1161\/CIRCULATIONAHA.114.015151","article-title":"Contemporary cardiac issues in Duchenne muscular dystrophy. Working group of the national heart, lung, and blood institute in collaboration with parent project muscular Dystrophy","volume":"131","author":"McNally","year":"2015","journal-title":"Circulation"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0285","first-page":"14","article-title":"Muscle strengthening through high-resistance weight training in patients with neuromuscular disorders","volume":"69","author":"Milner-Brown","year":"1988","journal-title":"Archives of Physical Medicine and Rehabilitation"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0290","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1093\/hmg\/8.7.1177","article-title":"A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2","volume":"8","author":"Monani","year":"1999","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0295","doi-asserted-by":"crossref","first-page":"463","DOI":"10.3233\/JND-150101","article-title":"Single-blind, randomized, controlled clinical trial of exercise in ambulatory spinal muscular atrophy: Why are the results negative?","volume":"2","author":"Montes","year":"2015","journal-title":"Journal of Neuromuscular Diseases"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0300","doi-asserted-by":"crossref","first-page":"2","DOI":"10.21010\/ajtcam.v14i4S.1","article-title":"Whole-body vibration exercise is well tolerated in patients with Duchenne muscular dystrophy: A systematic review","volume":"14","author":"Moreira-Marconi","year":"2017","journal-title":"African Journal of Traditional, Complementary, and Alternative Medicines"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0305","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1210\/jc.2015-2175","article-title":"Global consensus recommendations on prevention and Management of Nutritional Rickets","volume":"101","author":"Munns","year":"2016","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0310","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 Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0315","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1212\/WNL.0000000000001910","article-title":"Quality improvement in neurology: Muscular dystrophy quality measures","volume":"85","author":"Narayanaswami","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0320","doi-asserted-by":"crossref","first-page":"194","DOI":"10.5863\/1551-6776-24.3.194","article-title":"Nusinersen: A novel antisense oligonucleotide for the treatment of spinal muscular atrophy","volume":"24","author":"Neil","year":"2019","journal-title":"Journal of Pediatric Pharmacology and Therapeutics"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0325","author":"NIH U.S."},{"key":"10.1016\/j.pharmthera.2020.107719_bb0330","doi-asserted-by":"crossref","first-page":"3175","DOI":"10.1093\/brain\/awp236","article-title":"Prevalence of genetic muscle disease in northern England: In-depth analysis of a muscle clinic population","volume":"132","author":"Norwood","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0335","author":"NS Pharma Inc."},{"key":"10.1016\/j.pharmthera.2020.107719_bb0340","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s00439-002-0828-x","article-title":"Genetic testing and risk assessment for spinal muscular atrophy (SMA)","volume":"111","author":"Ogino","year":"2002","journal-title":"Human Genetics"},{"issue":"705\u2013709","key":"10.1016\/j.pharmthera.2020.107719_bb0345","article-title":"Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: Phenotype-genotype correlation","volume":"161","author":"Pane","year":"2012","journal-title":"The Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0350","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1007\/s00415-014-7585-3","article-title":"Adult care for Duchenne muscular dystrophy in the UK","volume":"262","author":"Rodger","year":"2015","journal-title":"Journal of Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0355","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1542\/peds.2014-2044","article-title":"Prevalence of Duchenne and Becker muscular dystrophies in the United States","volume":"135","author":"Romitti","year":"2015","journal-title":"Pediatrics"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0360","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1186\/s13023-017-0631-3","article-title":"The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: An evidence review","volume":"12","author":"Ryder","year":"2017","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0365","author":"Sarepta Therapeutics Inc."},{"key":"10.1016\/j.pharmthera.2020.107719_bb0370","author":"Sarepta Therapeutics Inc."},{"key":"10.1016\/j.pharmthera.2020.107719_bb0375","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1016\/j.jacc.2012.12.008","article-title":"All-cause mortality and cardiovascular outcomes with prophylactic steroid therapy in Duchenne muscular dystrophy","volume":"61","author":"Schram","year":"2013","journal-title":"Journal of the American College of Cardiology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0380","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1517\/21678707.2013.746939","article-title":"Review of phase II and phase III clinical trials for Duchenne muscular dystrophy","volume":"1","author":"Scully","year":"2013","journal-title":"Expert Opinion on Orphan Drugs"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0385","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1007\/s40124-014-0044-x","article-title":"Therapy of genetic disorders-novel therapies for Duchenne muscular dystrophy","volume":"2","author":"Seto","year":"2014","journal-title":"Current Pediatrics Reports"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0390","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/978-3-319-89689-2_2","article-title":"Mechanism of splicing regulation of spinal muscular atrophy genes","volume":"20","author":"Singh","year":"2018","journal-title":"Advances in Neurobiology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0395","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ejhg.2011.134","article-title":"Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: Clinical laboratory analysis of >72,400 specimens","volume":"20","author":"Sugarman","year":"2012","journal-title":"European Journal of Human Genetics"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0400","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0405","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.ejpn.2013.09.005","article-title":"Whole-body vibration training in children with Duchenne muscular dystrophy and spinal muscular atrophy","volume":"18","author":"Vry","year":"2014","journal-title":"European Journal of Paediatric Neurology"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0410","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1016\/j.pcl.2015.03.008","article-title":"Genetics and emerging treatments for Duchenne and Becker muscular dystrophy","volume":"62","author":"Wein","year":"2015","journal-title":"Pediatric Clinics of North America"},{"key":"10.1016\/j.pharmthera.2020.107719_bb0415","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1038\/gt.2014.53","article-title":"Exon skipping restores dystrophin expression, but fails to prevent disease progression in later stage dystrophic dko mice","volume":"21","author":"Wu","year":"2014","journal-title":"Gene Therapy"}],"container-title":["Pharmacology &amp; Therapeutics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0163725820302503?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0163725820302503?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T22:11:47Z","timestamp":1759011107000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0163725820302503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":83,"alternative-id":["S0163725820302503"],"URL":"https:\/\/doi.org\/10.1016\/j.pharmthera.2020.107719","relation":{},"ISSN":["0163-7258"],"issn-type":[{"value":"0163-7258","type":"print"}],"subject":[],"published":{"date-parts":[[2021,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Current and emerging therapies for Duchenne muscular dystrophy and spinal muscular atrophy","name":"articletitle","label":"Article Title"},{"value":"Pharmacology & Therapeutics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.pharmthera.2020.107719","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"107719"}}