{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T03:01:39Z","timestamp":1785207699687,"version":"3.55.0"},"reference-count":123,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Sarepta BioPharma"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","theclinics.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurologic Clinics"],"published-print":{"date-parts":[[2021,2]]},"DOI":"10.1016\/j.ncl.2020.09.005","type":"journal-article","created":{"date-parts":[[2020,11,20]],"date-time":"2020-11-20T07:44:07Z","timestamp":1605858247000},"page":"87-112","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Advances in Treatments in Muscular Dystrophies and Motor Neuron Disorders"],"prefix":"10.1016","volume":"39","author":[{"given":"Bhaskar","family":"Roy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Griggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.ncl.2020.09.005_bib1","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1038\/nrg3555","article-title":"Rare-disease genetics in the era of next-generation sequencing: discovery to translation","volume":"14","author":"Boycott","year":"2013","journal-title":"Nat Rev Genet"},{"issue":"7","key":"10.1016\/j.ncl.2020.09.005_bib2","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1001\/jama.1991.03460070075046","article-title":"The Orphan Drug Act. The first 7 years","volume":"265","author":"Asbury","year":"1991","journal-title":"JAMA"},{"issue":"4","key":"10.1016\/j.ncl.2020.09.005_bib3","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1007\/s00228-012-1423-2","article-title":"Orphan drugs, orphan diseases. The first decade of orphan drug legislation in the EU","volume":"69","author":"Joppi","year":"2013","journal-title":"Eur J Clin Pharmacol"},{"issue":"1","key":"10.1016\/j.ncl.2020.09.005_bib4","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pmed.1002191","article-title":"What Is the Purpose of the Orphan Drug Act?","volume":"14","author":"Herder","year":"2017","journal-title":"PLoS Med"},{"key":"10.1016\/j.ncl.2020.09.005_bib5","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.pediatrneurol.2019.06.007","article-title":"From Clinical Trials to Clinical Practice: Practical Considerations for Gene Replacement Therapy in SMA Type 1","volume":"100","author":"Al-Zaidy","year":"2019","journal-title":"Pediatr Neurol"},{"issue":"5","key":"10.1016\/j.ncl.2020.09.005_bib6","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1056\/NEJMra1706910","article-title":"Gene Therapy","volume":"381","author":"High","year":"2019","journal-title":"N\u00a0Engl J Med"},{"issue":"4","key":"10.1016\/j.ncl.2020.09.005_bib7","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1007\/s10072-019-03764-z","article-title":"Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle","volume":"40","author":"Vita","year":"2019","journal-title":"Neurol Sci"},{"issue":"4","key":"10.1016\/j.ncl.2020.09.005_bib8","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1007\/s10072-019-03778-7","article-title":"Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies","volume":"40","author":"Vita","year":"2019","journal-title":"Neurol Sci"},{"issue":"3","key":"10.1016\/j.ncl.2020.09.005_bib9","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1002\/mus.26001","article-title":"Making sense of antisense oligonucleotides: A narrative review","volume":"57","author":"Goyal","year":"2018","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ncl.2020.09.005_bib10","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.biocel.2019.03.009","article-title":"Antisense oligonucleotide therapies for Amyotrophic Lateral Sclerosis: Existing and emerging targets","volume":"110","author":"Klim","year":"2019","journal-title":"Int J Biochem Cell Biol"},{"issue":"8","key":"10.1016\/j.ncl.2020.09.005_bib11","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1016\/j.chembiol.2012.07.011","article-title":"Designing Chemically Modified Oligonucleotides for Targeted Gene Silencing","volume":"19","author":"Deleavey","year":"2012","journal-title":"Chem Biol"},{"key":"10.1016\/j.ncl.2020.09.005_bib12","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1146\/annurev.pharmtox.010909.105654","article-title":"RNA Targeting Therapeutics: Molecular Mechanisms of Antisense Oligonucleotides as a Therapeutic Platform","volume":"50","author":"Bennett","year":"2010","journal-title":"Annu Rev Pharmacol"},{"issue":"8","key":"10.1016\/j.ncl.2020.09.005_bib13","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1046\/j.1432-1033.2003.03555.x","article-title":"Antisense technologies - Improvement through novel chemical modifications","volume":"270","author":"Kurreck","year":"2003","journal-title":"Eur J Biochem"},{"key":"10.1016\/j.ncl.2020.09.005_bib14","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.addr.2015.03.008","article-title":"Antisense oligonucleotides in therapy for neurodegenerative disorders","volume":"87","author":"Evers","year":"2015","journal-title":"Adv Drug Deliv Rev"},{"issue":"7","key":"10.1016\/j.ncl.2020.09.005_bib15","doi-asserted-by":"crossref","first-page":"3351","DOI":"10.1093\/nar\/gkw065","article-title":"RNA cleavage products generated by antisense oligonucleotides and siRNAs are processed by the RNA surveillance machinery","volume":"44","author":"Lima","year":"2016","journal-title":"Nucleic Acids Res"},{"issue":"14","key":"10.1016\/j.ncl.2020.09.005_bib16","doi-asserted-by":"crossref","first-page":"6007","DOI":"10.1073\/pnas.0608616104","article-title":"Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides","volume":"104","author":"Du","year":"2007","journal-title":"Proc Natl Acad Sci U\u00a0S\u00a0A"},{"key":"10.1016\/j.ncl.2020.09.005_bib17","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.nbd.2013.04.019","article-title":"Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon","volume":"58","author":"Evers","year":"2013","journal-title":"Neurobiol Dis"},{"issue":"4","key":"10.1016\/j.ncl.2020.09.005_bib18","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1128\/MCB.26.4.1333-1346.2006","article-title":"Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron","volume":"26","author":"Singh","year":"2006","journal-title":"Mol Cell Biol"},{"issue":"6372","key":"10.1016\/j.ncl.2020.09.005_bib19","doi-asserted-by":"crossref","first-page":"eaan4672","DOI":"10.1126\/science.aan4672","article-title":"Gene therapy comes of age","volume":"359","author":"Dunbar","year":"2018","journal-title":"Science"},{"issue":"R1","key":"10.1016\/j.ncl.2020.09.005_bib20","doi-asserted-by":"crossref","first-page":"R102","DOI":"10.1093\/hmg\/ddz128","article-title":"AAV-based gene therapies for the muscular dystrophies","volume":"28","author":"Crudele","year":"2019","journal-title":"Hum Mol Genet"},{"issue":"3","key":"10.1016\/j.ncl.2020.09.005_bib21","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.ymthe.2019.01.002","article-title":"Development of Novel Micro-dystrophins with Enhanced Functionality","volume":"27","author":"Ramos","year":"2019","journal-title":"Mol Ther"},{"issue":"17","key":"10.1016\/j.ncl.2020.09.005_bib22","doi-asserted-by":"crossref","first-page":"4971","DOI":"10.1093\/hmg\/ddv219","article-title":"Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy","volume":"24","author":"Bisset","year":"2015","journal-title":"Hum Mol Genet"},{"issue":"9","key":"10.1016\/j.ncl.2020.09.005_bib23","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1038\/sj.gt.3301955","article-title":"Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions","volume":"10","author":"Furling","year":"2003","journal-title":"Gene Ther"},{"key":"10.1016\/j.ncl.2020.09.005_bib24","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.omtm.2017.12.005","article-title":"Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD","volume":"8","author":"Wallace","year":"2018","journal-title":"Mol Ther Methods Clin Dev"},{"issue":"7756","key":"10.1016\/j.ncl.2020.09.005_bib25","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/s41586-019-1161-z","article-title":"Transcriptome-wide off-target RNA editing induced by CRISPR-guided DNA base editors","volume":"569","author":"Grunewald","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.ncl.2020.09.005_bib26","unstructured":"Newswire P. Audentes Therapeutics announces expansion of AAV technology platform and pipeline with new development programs for Duchennemuscular dystrophy and myotonic dystrophy 2019 Available at: https:\/\/www.prnewswire.com\/news-releases\/audentes-therapeutics-announces-expansion-of-aav-technology-platform-and-pipeline-with-new-development-programs-for-duchenne-muscular-dystrophy-and-myotonic-dystrophy-300825843.html. Accessed: October 3, 2020."},{"issue":"11","key":"10.1016\/j.ncl.2020.09.005_bib27","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1038\/mt.2012.181","article-title":"Muscle function recovery in golden retriever muscular dystrophy after AAV1-U7 exon skipping","volume":"20","author":"Vulin","year":"2012","journal-title":"Mol Ther"},{"issue":"3","key":"10.1016\/j.ncl.2020.09.005_bib28","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 Neurol"},{"issue":"11","key":"10.1016\/j.ncl.2020.09.005_bib29","doi-asserted-by":"crossref","first-page":"1837","DOI":"10.1007\/s10072-018-3555-3","article-title":"Clinical management of Duchenne muscular dystrophy: the state of the art","volume":"39","author":"Messina","year":"2018","journal-title":"Neurol Sci"},{"issue":"5","key":"10.1016\/j.ncl.2020.09.005_bib30","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1016\/j.ymthe.2017.02.019","article-title":"Progress toward Gene Therapy for Duchenne Muscular Dystrophy","volume":"25","author":"Chamberlain","year":"2017","journal-title":"Mol Ther"},{"key":"10.1016\/j.ncl.2020.09.005_bib31","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.cct.2017.04.008","article-title":"Developing standardized corticosteroid treatment for Duchenne muscular dystrophy","volume":"58","author":"Guglieri","year":"2017","journal-title":"Contemp Clin Trials"},{"issue":"4","key":"10.1016\/j.ncl.2020.09.005_bib32","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 Neurol"},{"issue":"5","key":"10.1016\/j.ncl.2020.09.005_bib33","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 Neurol"},{"issue":"2","key":"10.1016\/j.ncl.2020.09.005_bib34","first-page":"121","article-title":"Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients","volume":"31","author":"Passamano","year":"2012","journal-title":"Acta Myol"},{"issue":"2","key":"10.1016\/j.ncl.2020.09.005_bib35","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.nmd.2016.11.012","article-title":"Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in Japan","volume":"27","author":"Saito","year":"2017","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"10.1016\/j.ncl.2020.09.005_bib36","article-title":"Corticosteroids for the treatment of Duchenne muscular dystrophy","author":"Matthews","year":"2016","journal-title":"Cochrane Database Syst Rev"},{"issue":"12","key":"10.1016\/j.ncl.2020.09.005_bib37","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.2106\/JBJS.L.01577","article-title":"Glucocorticoid treatment for the prevention of scoliosis in children with Duchenne muscular dystrophy: long-term follow-up","volume":"95","author":"Lebel","year":"2013","journal-title":"J\u00a0Bone Joint Surg Am"},{"key":"10.1016\/j.ncl.2020.09.005_bib38","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.jpeds.2016.02.067","article-title":"Corticosteroid Treatment and Growth Patterns in Ambulatory Males with Duchenne Muscular Dystrophy","volume":"173","author":"Lamb","year":"2016","journal-title":"J\u00a0Pediatr"},{"issue":"1","key":"10.1016\/j.ncl.2020.09.005_bib39","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/mus.23831","article-title":"Corticosteroids in Duchenne muscular dystrophy: major variations in practice","volume":"48","author":"Griggs","year":"2013","journal-title":"Muscle Nerve"},{"issue":"12","key":"10.1016\/j.ncl.2020.09.005_bib40","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1212\/WNL.0000000000001950","article-title":"Prednisone\/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study","volume":"85","author":"Bello","year":"2015","journal-title":"Neurology"},{"issue":"20","key":"10.1016\/j.ncl.2020.09.005_bib41","doi-asserted-by":"crossref","first-page":"2123","DOI":"10.1212\/WNL.0000000000003217","article-title":"Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy","volume":"87","author":"Griggs","year":"2016","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.ncl.2020.09.005_bib42","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1186\/s13063-018-2645-0","article-title":"A\u00a0checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial","volume":"19","author":"Crow","year":"2018","journal-title":"Trials"},{"issue":"9791","key":"10.1016\/j.ncl.2020.09.005_bib43","doi-asserted-by":"crossref","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":"10.1016\/j.ncl.2020.09.005_bib44","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/ana.24555","article-title":"Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy","volume":"79","author":"Mendell","year":"2016","journal-title":"Ann Neurol"},{"issue":"15 Supplement","key":"10.1016\/j.ncl.2020.09.005_bib46","article-title":"Golodirsen Induces Exon Skipping Leading to Sarcolemmal Dystrophin Expression in Duchenne Muscular Dystrophy Patients With Mutations Amenable to Exon 53 Skipping","volume":"90","author":"Muntoni","year":"2018","journal-title":"Neurology"},{"issue":"18","key":"10.1016\/j.ncl.2020.09.005_bib47","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":"N\u00a0Engl J Med"},{"issue":"7","key":"10.1016\/j.ncl.2020.09.005_bib48","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1056\/NEJMoa1710504","article-title":"Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy","volume":"378","author":"Mercuri","year":"2018","journal-title":"N\u00a0Engl J Med"},{"issue":"18","key":"10.1016\/j.ncl.2020.09.005_bib49","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N\u00a0Engl J Med"},{"issue":"7","key":"10.1016\/j.ncl.2020.09.005_bib50","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/S1474-4422(17)30115-1","article-title":"Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial","volume":"16","year":"2017","journal-title":"Lancet Neurol"},{"issue":"1","key":"10.1016\/j.ncl.2020.09.005_bib51","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1089\/nat.2018.0756","article-title":"A\u00a0Sequel 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":"12","key":"10.1016\/j.ncl.2020.09.005_bib52","doi-asserted-by":"crossref","first-page":"e81302","DOI":"10.1371\/journal.pone.0081302","article-title":"Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy","volume":"8","author":"Finkel","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ncl.2020.09.005_bib53","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.nmd.2014.06.228","article-title":"Timed Function Tests and Other Physical Function Outcomes in Ataluren-Treated Patients with Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)","volume":"24","author":"McDonald","year":"2014","journal-title":"Neuromuscul Disord"},{"issue":"10101","key":"10.1016\/j.ncl.2020.09.005_bib54","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1016\/S0140-6736(17)31611-2","article-title":"Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial","volume":"390","author":"McDonald","year":"2017","journal-title":"Lancet"},{"key":"10.1016\/j.ncl.2020.09.005_bib55","unstructured":"Available at: https:\/\/www.multivu.com\/players\/English\/8420051-ptc-therapeutics-stride-registry-duchenne-muscular-dystrophy-translarna\/. Accessed December 1, 2019."},{"issue":"Suppl 2","key":"10.1016\/j.ncl.2020.09.005_bib59","first-page":"S68","article-title":"A\u00a0Phase II, Dose Finding Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NS-065\/NCNP-01 (Viltolarsen) in Boys with Duchenne Muscular Dystrophy (DMD)","volume":"28","author":"Clemens","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"437","key":"10.1016\/j.ncl.2020.09.005_bib60","doi-asserted-by":"crossref","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":"34","key":"10.1016\/j.ncl.2020.09.005_bib61","doi-asserted-by":"crossref","first-page":"13763","DOI":"10.1073\/pnas.1204638109","article-title":"Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery","volume":"109","author":"Aoki","year":"2012","journal-title":"Proc Natl Acad Sci U\u00a0S\u00a0A"},{"key":"10.1016\/j.ncl.2020.09.005_bib62","doi-asserted-by":"crossref","first-page":"e225","DOI":"10.1038\/mtna.2014.76","article-title":"Long-term efficacy of systemic multiexon skipping targeting dystrophin exons 45-55 with a cocktail of vivo-morpholinos in mdx52 mice","volume":"4","author":"Echigoya","year":"2015","journal-title":"Mol Ther Nucleic Acids"},{"key":"10.1016\/j.ncl.2020.09.005_bib63","doi-asserted-by":"crossref","first-page":"e5","DOI":"10.1017\/erm.2019.5","article-title":"Recent advancements in exon-skipping therapies using antisense oligonucleotides and genome editing for the treatment of various muscular dystrophies","volume":"21","author":"Hwang","year":"2019","journal-title":"Expert Rev Mol Med"},{"issue":"10","key":"10.1016\/j.ncl.2020.09.005_bib64","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":"Neuromuscul Disord"},{"key":"10.1016\/j.ncl.2020.09.005_bib65","doi-asserted-by":"crossref","unstructured":"Donovan JV, Sweeney K, Tennekoon L, et\u00a0al. Move DMD Results: Effects of Edasalonexent, an NF-kB Inhibitor, in 4 to 7 Year Old Patients with Duchenne Muscular Dystrophy. AAN annual meeting, Boston, April 22-28, 2017.","DOI":"10.1212\/WNL.88.16_supplement.P3.210"},{"issue":"8","key":"10.1016\/j.ncl.2020.09.005_bib66","doi-asserted-by":"crossref","first-page":"E866","DOI":"10.1212\/WNL.0000000000006950","article-title":"Cardiac and skeletal muscle effects in the randomized HOPE-Duchenne trial","volume":"92","author":"Taylor","year":"2019","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.ncl.2020.09.005_bib67","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1186\/s13063-019-3740-6","article-title":"Tamoxifen in Duchenne muscular dystrophy (TAMDMD): study protocol for a multicenter, randomized, placebo-controlled, double-blind phase 3 trial","volume":"20","author":"Nagy","year":"2019","journal-title":"Trials"},{"issue":"19","key":"10.1016\/j.ncl.2020.09.005_bib68","doi-asserted-by":"crossref","first-page":"e013501","DOI":"10.1161\/JAHA.119.013501","article-title":"Stabilization of Early Duchenne Cardiomyopathy With Aldosterone Inhibition: Results of the Multicenter AIDMD Trial","volume":"8","author":"Raman","year":"2019","journal-title":"J\u00a0Am Heart Assoc"},{"issue":"3","key":"10.1016\/j.ncl.2020.09.005_bib71","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.ncl.2014.05.002","article-title":"Duchenne and Becker Muscular Dystrophies","volume":"32","author":"Flanigan","year":"2014","journal-title":"Neurol Clin"},{"issue":"3","key":"10.1016\/j.ncl.2020.09.005_bib72","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":"Pediatr Clin North Am"},{"issue":"1","key":"10.1016\/j.ncl.2020.09.005_bib73","first-page":"54","article-title":"Exploring the Molecular-Basis for Variability among Patients with Becker Muscular-Dystrophy - Dystrophin Gene and Protein Studies","volume":"49","author":"Beggs","year":"1991","journal-title":"Am J Hum Genet"},{"issue":"6","key":"10.1016\/j.ncl.2020.09.005_bib74","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1161\/CIRCGENETICS.109.867242","article-title":"Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy","volume":"2","author":"Kaspar","year":"2009","journal-title":"Circ Cardiovasc Genet"},{"issue":"1","key":"10.1016\/j.ncl.2020.09.005_bib75","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/mt.2014.200","article-title":"A\u00a0phase 1\/2a follistatin gene therapy trial for becker muscular dystrophy","volume":"23","author":"Mendell","year":"2015","journal-title":"Mol Ther"},{"key":"10.1016\/j.ncl.2020.09.005_bib76","unstructured":"Available at: https:\/\/clinicaltrials.gov\/ct2\/show\/NCT04054375?cond=Becker+Muscular+Dystrophy&draw=5&rank=27. https:\/\/clinicaltrials.gov\/ct2\/show\/NCT04054375?cond=Becker+Muscular+Dystrophy&draw=5&rank=27. Accessed December 2, 2019."},{"issue":"4","key":"10.1016\/j.ncl.2020.09.005_bib77","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1007\/s13311-018-0648-x","article-title":"The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon?","volume":"15","author":"Chu","year":"2018","journal-title":"Neurotherapeutics"},{"issue":"2","key":"10.1016\/j.ncl.2020.09.005_bib78","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/mus.26077","article-title":"Untangling the Complexity of Limb-Girdle Muscular Dystrophies","volume":"58","author":"Liewluck","year":"2018","journal-title":"Muscle Nerve"},{"issue":"3","key":"10.1016\/j.ncl.2020.09.005_bib79","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1016\/j.ncl.2014.04.005","article-title":"The Limb-Girdle Muscular Dystrophies","volume":"32","author":"Wicklund","year":"2014","journal-title":"Neurol Clin"},{"key":"10.1016\/j.ncl.2020.09.005_bib80","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.omtn.2018.10.004","article-title":"Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy","volume":"13","author":"Lee","year":"2018","journal-title":"Mol Ther Nucleic Acids"},{"issue":"6936","key":"10.1016\/j.ncl.2020.09.005_bib81","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/nature01573","article-title":"Defective membrane repair in dysferlin-deficient muscular dystrophy","volume":"423","author":"Bansal","year":"2003","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.ncl.2020.09.005_bib82","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/acn3.172","article-title":"AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models","volume":"2","author":"Sondergaard","year":"2015","journal-title":"Ann Clin Transl Neurol"},{"issue":"3","key":"10.1016\/j.ncl.2020.09.005_bib83","first-page":"281","article-title":"Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells","volume":"2","author":"Barthelemy","year":"2015","journal-title":"J\u00a0Neuromuscul Dis"},{"issue":"5","key":"10.1016\/j.ncl.2020.09.005_bib84","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1002\/ana.22251","article-title":"Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D","volume":"68","author":"Mendell","year":"2010","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ncl.2020.09.005_bib85","doi-asserted-by":"crossref","first-page":"S20","DOI":"10.1016\/S1525-0016(16)36623-0","article-title":"A\u00a0phase I dose-escalating study of AAV1-gamma-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C","volume":"19","author":"Herson","year":"2011","journal-title":"Mol Ther"},{"issue":"9","key":"10.1016\/j.ncl.2020.09.005_bib86","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.99357","article-title":"Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers","volume":"3","author":"Wyatt","year":"2018","journal-title":"JCI Insight"},{"issue":"3","key":"10.1016\/j.ncl.2020.09.005_bib87","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/j.ncl.2014.04.003","article-title":"Facioscapulohumeral muscular dystrophy","volume":"32","author":"Statland","year":"2014","journal-title":"Neurol Clin"},{"key":"10.1016\/j.ncl.2020.09.005_bib88","doi-asserted-by":"crossref","unstructured":"Miller DG. Gene Therapy for Facioscapulohumeral Muscular Dystrophy (FSHD). In: Duan D, Mendell JR, editors. Muscle gene therapy. Cham, Switzerland: Springer Nature:2019;509-523.","DOI":"10.1007\/978-3-030-03095-7_29"},{"key":"10.1016\/j.ncl.2020.09.005_bib89","doi-asserted-by":"crossref","unstructured":"Mellion M, Ronco L, Thompson, D. et\u00a0al. Phase 1 Clinical Trial of Losmapimod in Facioscapulohumeral Muscular Dystrophy (FSHD): Safety, Tolerability and Target Engagement. 2020. Available at: https:\/\/mdaconference.org\/node\/943. Accessed: October 3, 2020.","DOI":"10.1212\/WNL.94.15_supplement.1557"},{"issue":"5","key":"10.1016\/j.ncl.2020.09.005_bib90","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/S1474-4422(12)70061-3","article-title":"Childhood spinal muscular atrophy: controversies and challenges","volume":"11","author":"Mercuri","year":"2012","journal-title":"Lancet Neurol"},{"issue":"1","key":"10.1016\/j.ncl.2020.09.005_bib91","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"},{"issue":"1","key":"10.1016\/j.ncl.2020.09.005_bib92","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/0960-8966(94)00075-K","article-title":"Chaos in the classification of SMA: a possible resolution","volume":"5","author":"Dubowitz","year":"1995","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"10.1016\/j.ncl.2020.09.005_bib93","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","article-title":"Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases","volume":"28","author":"Calucho","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"4","key":"10.1016\/j.ncl.2020.09.005_bib94","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s00439-006-0156-7","article-title":"Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number","volume":"119","author":"Wirth","year":"2006","journal-title":"Hum Genet"},{"issue":"9","key":"10.1016\/j.ncl.2020.09.005_bib95","first-page":"251","article-title":"New Directions for SMA Therapy","volume":"7","author":"Messina","year":"2018","journal-title":"J\u00a0Clin Med"},{"issue":"11","key":"10.1016\/j.ncl.2020.09.005_bib97","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.nmd.2019.09.007","article-title":"Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study","volume":"29","author":"De Vivo","year":"2019","journal-title":"Neuromuscul Disord"},{"issue":"21","key":"10.1016\/j.ncl.2020.09.005_bib98","doi-asserted-by":"crossref","first-page":"E2492","DOI":"10.1212\/WNL.0000000000007527","article-title":"Nusinersen in later-onset spinalmuscular atrophy Long-term results from the phase 1\/2 studies","volume":"92","author":"Darras","year":"2019","journal-title":"Neurology"},{"issue":"15","key":"10.1016\/j.ncl.2020.09.005_bib102","doi-asserted-by":"crossref","first-page":"6501","DOI":"10.1021\/acs.jmedchem.8b00741","article-title":"Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 ( SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)","volume":"61","author":"Ratni","year":"2018","journal-title":"J\u00a0Med Chem"},{"key":"10.1016\/j.ncl.2020.09.005_bib106","unstructured":"Risdiplam demonstrates preliminary evidence of clinical benefit in type 1, 2, & 3 spinal muscular atrophy patients [press release]. South Plainfield (NJ), 2018. Available at: https:\/\/www.prnewswire.com\/news-releases\/risdiplam-demonstrates-preliminary-evidence-of-clinical-benefit-in-type-1-2--3-spinal-muscular-atrophy-patients-300723444.html. Accessed October 3, 2020."},{"issue":"7","key":"10.1016\/j.ncl.2020.09.005_bib107","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/S1474-4422(17)30085-6","article-title":"Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial","volume":"16","author":"Bertini","year":"2017","journal-title":"Lancet Neurol"},{"issue":"9","key":"10.1016\/j.ncl.2020.09.005_bib110","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1038\/nrn1971","article-title":"Molecular biology of amyotrophic lateral sclerosis: insights from genetics","volume":"7","author":"Pasinelli","year":"2006","journal-title":"Nat Rev Neurosci"},{"issue":"2","key":"10.1016\/j.ncl.2020.09.005_bib111","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1056\/NEJMra1603471","article-title":"Amyotrophic Lateral Sclerosis","volume":"377","author":"Brown","year":"2017","journal-title":"N\u00a0Engl J Med"},{"issue":"3","key":"10.1016\/j.ncl.2020.09.005_bib112","article-title":"Riluzole for amyotrophic lateral sclerosis (ALS)\/motor neuron disease (MND)","author":"Miller","year":"2012","journal-title":"Cochrane Database Syst Rev"},{"issue":"2","key":"10.1016\/j.ncl.2020.09.005_bib113","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1002\/mus.26740","article-title":"Long-term edaravone efficacy in amyotrophic lateral sclerosis: Post-hoc analyses of Study 19 (MCI186-19)","volume":"61","author":"Shefner","year":"2019","journal-title":"Muscle Nerve"},{"issue":"sup1","key":"10.1016\/j.ncl.2020.09.005_bib114","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1080\/21678421.2017.1364269","article-title":"Open-label 24-week extension study of edaravone (MCI-186) in amyotrophic lateral sclerosis","volume":"18","year":"2017","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"10.1016\/j.ncl.2020.09.005_bib115","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/j.freeradbiomed.2013.06.029","article-title":"Clinical perspective on oxidative stress in sporadic amyotrophic lateral sclerosis","volume":"65","author":"D'Amico","year":"2013","journal-title":"Free Radic Biol Med"},{"issue":"3","key":"10.1016\/j.ncl.2020.09.005_bib116","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1080\/17482960801933942","article-title":"Oxidative stress biomarkers in sporadic ALS","volume":"9","author":"Mitsumoto","year":"2008","journal-title":"Amyotroph Lateral Scler"},{"issue":"sup1","key":"10.1016\/j.ncl.2020.09.005_bib117","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1080\/21678421.2017.1361441","article-title":"Exploratory double-blind, parallel-group, placebo-controlled study of edaravone (MCI-186) in amyotrophic lateral sclerosis (Japan ALS severity classification: Grade 3, requiring assistance for eating, excretion or ambulation)","volume":"18","year":"2017","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"issue":"1","key":"10.1016\/j.ncl.2020.09.005_bib120","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/nn.3584","article-title":"State of play in amyotrophic lateral sclerosis genetics","volume":"17","author":"Renton","year":"2014","journal-title":"Nat Neurosci"},{"issue":"5\u20136","key":"10.1016\/j.ncl.2020.09.005_bib121","doi-asserted-by":"crossref","first-page":"310","DOI":"10.3109\/17482960802566824","article-title":"Prognostic factors in ALS: A critical review","volume":"10","author":"Chio","year":"2009","journal-title":"Amyotroph Lateral Scler"},{"issue":"5","key":"10.1016\/j.ncl.2020.09.005_bib122","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S1474-4422(13)70061-9","article-title":"An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study (vol 12, pg 435, 2013)","volume":"12","author":"Miller","year":"2013","journal-title":"Lancet Neurol"},{"issue":"18","key":"10.1016\/j.ncl.2020.09.005_bib123","doi-asserted-by":"crossref","first-page":"4388","DOI":"10.3390\/ijms20184388","article-title":"Gene Therapy for ALS-A Perspective","volume":"20","author":"Cappella","year":"2019","journal-title":"Int J Mol Sci"},{"issue":"15","key":"10.1016\/j.ncl.2020.09.005_bib124","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1056\/NEJMcibr1716741","article-title":"Finding a Treatment for ALS - Will Gene Editing Cut It?","volume":"378","author":"Al-Chalabi","year":"2018","journal-title":"N\u00a0Engl J Med"},{"issue":"12","key":"10.1016\/j.ncl.2020.09.005_bib125","doi-asserted-by":"crossref","first-page":"eaar3952","DOI":"10.1126\/sciadv.aar3952","article-title":"In\u00a0vivo genome editing improves motor function and extends survival in a mouse model of ALS","volume":"3","author":"Gaj","year":"2017","journal-title":"Sci Adv"},{"issue":"21","key":"10.1016\/j.ncl.2020.09.005_bib126","doi-asserted-by":"crossref","first-page":"2230","DOI":"10.1212\/WNL.0000000000003359","article-title":"Safety of intrathecal autologous adipose-derived mesenchymal stromal cells in patients with ALS","volume":"87","author":"Staff","year":"2016","journal-title":"Neurology"},{"issue":"6","key":"10.1016\/j.ncl.2020.09.005_bib127","doi-asserted-by":"crossref","first-page":"590","DOI":"10.5966\/sctm.2014-0212","article-title":"Phase I trial of repeated intrathecal autologous bone marrow-derived mesenchymal stromal cells in amyotrophic lateral sclerosis","volume":"4","author":"Oh","year":"2015","journal-title":"Stem Cells Transl Med"},{"issue":"4","key":"10.1016\/j.ncl.2020.09.005_bib128","doi-asserted-by":"crossref","first-page":"647","DOI":"10.3727\/096368916X693716","article-title":"Transplantation of Mesenchymal Stromal Cells in Patients With Amyotrophic Lateral Sclerosis: Results of Phase I\/IIa Clinical Trial","volume":"26","author":"Sykova","year":"2017","journal-title":"Cell Transplant"},{"issue":"3","key":"10.1016\/j.ncl.2020.09.005_bib129","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1001\/jamaneurol.2015.4321","article-title":"Safety and Clinical Effects of Mesenchymal Stem Cells Secreting Neurotrophic Factor Transplantation in Patients With Amyotrophic Lateral Sclerosis: Results of Phase 1\/2 and 2a Clinical Trials","volume":"73","author":"Petrou","year":"2016","journal-title":"JAMA Neurol"},{"issue":"4","key":"10.1016\/j.ncl.2020.09.005_bib130","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1136\/jnnp-2018-319294","article-title":"Ultra-high-dose methylcobalamin in amyotrophic lateral sclerosis: a long-term phase II\/III randomised controlled study","volume":"90","author":"Kaji","year":"2019","journal-title":"J\u00a0Neurol Neurosurg Psychiatry"},{"issue":"4","key":"10.1016\/j.ncl.2020.09.005_bib131","doi-asserted-by":"crossref","first-page":"342","DOI":"10.3988\/jcn.2014.10.4.342","article-title":"Recombinant human erythropoietin in amyotrophic lateral sclerosis: a pilot study of safety and feasibility","volume":"10","author":"Kim","year":"2014","journal-title":"J\u00a0Clin Neurol"},{"issue":"11","key":"10.1016\/j.ncl.2020.09.005_bib132","doi-asserted-by":"crossref","first-page":"e029449","DOI":"10.1136\/bmjopen-2019-029449","article-title":"Study protocol for a randomised, double-blind, placebo-controlled study evaluating the Efficacy of cannabis-based Medicine Extract in slowing the disease pRogression of Amyotrophic Lateral sclerosis or motor neurone Disease: the EMERALD trial","volume":"9","author":"Urbi","year":"2019","journal-title":"BMJ Open"},{"issue":"1","key":"10.1016\/j.ncl.2020.09.005_bib133","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1007\/s12640-017-9741-x","article-title":"Studies of Environmental Risk Factors in Amyotrophic Lateral Sclerosis (ALS) and a Phase I Clinical Trial of L-Serine","volume":"33","author":"Bradley","year":"2018","journal-title":"Neurotox Res"},{"issue":"1","key":"10.1016\/j.ncl.2020.09.005_bib134","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1111\/ene.12664","article-title":"Tauroursodeoxycholic acid in the treatment of patients with amyotrophic lateral sclerosis","volume":"23","author":"Elia","year":"2016","journal-title":"Eur J Neurol"},{"issue":"10","key":"10.1016\/j.ncl.2020.09.005_bib135","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1136\/jnnp-2018-320288","article-title":"Oral levosimendan in amyotrophic lateral sclerosis: a phase II multicentre, randomised, double-blind, placebo-controlled trial","volume":"90","author":"Al-Chalabi","year":"2019","journal-title":"J\u00a0Neurol Neurosurg Psychiatry"},{"issue":"7","key":"10.1016\/j.ncl.2020.09.005_bib136","doi-asserted-by":"crossref","first-page":"e565","DOI":"10.1212\/WNL.0000000000004960","article-title":"Randomized, double-blind, placebo-controlled trial of arimoclomol in rapidly progressive SOD1 ALS","volume":"90","author":"Benatar","year":"2018","journal-title":"Neurology"},{"key":"10.1016\/j.ncl.2020.09.005_bib137","doi-asserted-by":"crossref","DOI":"10.1001\/jamaneurol.2019.1206","article-title":"Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps","author":"Baker","year":"2019","journal-title":"JAMA Neurol"},{"issue":"4","key":"10.1016\/j.ncl.2020.09.005_bib139","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1002\/ana.23672","article-title":"Unintended effects of orphan product designation for rare neurological diseases","volume":"72","author":"Murphy","year":"2012","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ncl.2020.09.005_bib140","article-title":"The Cost of Drugs for Rare Diseases Is Threatening the U.S. Health Care System","author":"Smith","year":"2017","journal-title":"Harv Bus Rev"},{"key":"10.1016\/j.ncl.2020.09.005_bib141","unstructured":"https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-oral-treatment-spinal-muscular-atrophy."}],"container-title":["Neurologic Clinics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0733861920300724?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0733861920300724?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T10:18:58Z","timestamp":1760005138000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0733861920300724"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":123,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["S0733861920300724"],"URL":"https:\/\/doi.org\/10.1016\/j.ncl.2020.09.005","relation":{},"ISSN":["0733-8619"],"issn-type":[{"value":"0733-8619","type":"print"}],"subject":[],"published":{"date-parts":[[2021,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Advances in Treatments in Muscular Dystrophies and Motor Neuron Disorders","name":"articletitle","label":"Article Title"},{"value":"Neurologic Clinics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ncl.2020.09.005","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"}]}}