{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:47:54Z","timestamp":1787240874517,"version":"build-2736575974"},"reference-count":49,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2023,5]]},"DOI":"10.1016\/j.nmd.2023.03.001","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T21:09:01Z","timestamp":1678396141000},"page":"382-390","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy"],"prefix":"10.1016","volume":"33","author":[{"given":"Jinli","family":"Bai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yujin","family":"Qu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shijia","family":"OuYang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Jiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingjing","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenchen","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunlong","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyin","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Depeng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuwei","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.nmd.2023.03.001_bib0001","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1136\/jmg.15.6.409","article-title":"Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy","volume":"15","author":"Pearn","year":"1978","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2023.03.001_bib0002","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1016\/S0140-6736(08)60921-6","article-title":"Spinal muscular atrophy","volume":"371","author":"Lunn","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.nmd.2023.03.001_bib0003","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/S0960-8966(99)00016-4","article-title":"59th ENMC international workshop: spinal muscular atrophies: recent progress and revised diagnostic criteria 17\u201319 April 1998, Soestduinen, the Netherlands","volume":"9","author":"Zerres","year":"1999","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2023.03.001_bib0004","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1001\/archneurol.2011.74","article-title":"Spinal muscular atrophy: a timely review","volume":"68","author":"Kolb","year":"2011","journal-title":"Arch Neurol"},{"key":"10.1016\/j.nmd.2023.03.001_bib0005","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.nmd.2023.03.001_bib0006","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.pediatrneurol.2011.09.001","article-title":"Spinal muscular atrophy: a clinical and research update","volume":"46","author":"Markowitz","year":"2012","journal-title":"Pediatr Neurol"},{"issue":"1","key":"10.1016\/j.nmd.2023.03.001_bib0007","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/s00439-008-0598-1","article-title":"Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene","volume":"125","author":"Al\u00edas","year":"2009","journal-title":"Hum Genet"},{"issue":"5","key":"10.1016\/j.nmd.2023.03.001_bib0008","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/j.jmoldx.2016.05.004","article-title":"Mutation spectrum of the survival of motor neuron 1 and functional analysis of variants in chinese spinal muscular atrophy","volume":"18","author":"Qu","year":"2016","journal-title":"J Mol Diagn"},{"issue":"6","key":"10.1016\/j.nmd.2023.03.001_bib0009","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1002\/humu.24200","article-title":"Beyond copy number: a new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients","volume":"42","author":"Blasco-P\u00e9rez","year":"2021","journal-title":"Hum Mutat"},{"issue":"3","key":"10.1016\/j.nmd.2023.03.001_bib0010","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/s00439-019-01983-0","article-title":"Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype","volume":"138","author":"Ruhno","year":"2019","journal-title":"Hum Genet"},{"issue":"16","key":"10.1016\/j.nmd.2023.03.001_bib0011","doi-asserted-by":"crossref","first-page":"9029","DOI":"10.3390\/ijms22169029","article-title":"The importance of digging into the genetics of SMN genes in the therapeutic scenario of spinal muscular atrophy","volume":"22","author":"Costa-Roger","year":"2021","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.nmd.2023.03.001_bib0012","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1073\/pnas.96.11.6307","article-title":"A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy","volume":"96","author":"Lorson","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"issue":"7","key":"10.1016\/j.nmd.2023.03.001_bib0013","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":"Hum Mol Genet"},{"issue":"15","key":"10.1016\/j.nmd.2023.03.001_bib0014","doi-asserted-by":"crossref","first-page":"7896","DOI":"10.3390\/ijms22157896","article-title":"Genomic variability in the survival motor neuron genes (SMN1 and SMN2): implications for spinal muscular atrophy phenotype and therapeutics development","volume":"22","author":"Butchbach","year":"2021","journal-title":"Int J Mol Sci"},{"issue":"5","key":"10.1016\/j.nmd.2023.03.001_bib0015","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1128\/MCB.01262-08","article-title":"Regulation of SMN protein stability","volume":"29","author":"Burnett","year":"2009","journal-title":"Mol Cell Biol"},{"issue":"6","key":"10.1016\/j.nmd.2023.03.001_bib0016","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1093\/hmg\/ddi078","article-title":"SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN","volume":"14","author":"Le","year":"2005","journal-title":"Hum Mol Genet"},{"issue":"19","key":"10.1016\/j.nmd.2023.03.001_bib0017","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":"1","author":"Wirth","year":"2006","journal-title":"Hum Genet"},{"key":"10.1016\/j.nmd.2023.03.001_bib0018","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1177\/0883073814553271","article-title":"Association of copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein gene with the natural history in a Chinese spinal muscular atrophy cohort","volume":"30","author":"Qu","year":"2015","journal-title":"J Child Neurol"},{"key":"10.1016\/j.nmd.2023.03.001_bib0019","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":"Front Mol Biosci"},{"key":"10.1016\/j.nmd.2023.03.001_bib0020","doi-asserted-by":"crossref","first-page":"2252","DOI":"10.3389\/fmicb.2017.02252","article-title":"A multilayered control of the human survival motor neuron gene expression by Alu elements","volume":"8","author":"Ottesen","year":"2017","journal-title":"Front Microbiol"},{"issue":"6","key":"10.1016\/j.nmd.2023.03.001_bib0021","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1080\/2159256X.2015.1093067","article-title":"Alu elements and DNA double-strand break repair","volume":"5","author":"White","year":"2015","journal-title":"Mob Genet Elem"},{"issue":"3","key":"10.1016\/j.nmd.2023.03.001_bib0022","doi-asserted-by":"crossref","first-page":"70","DOI":"10.5808\/GI.2016.14.3.70","article-title":"Structural variation of Alu element and human disease","volume":"14","author":"Kim","year":"2016","journal-title":"Genom Inform"},{"issue":"12","key":"10.1016\/j.nmd.2023.03.001_bib0023","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1186\/gb-2011-12-12-236","article-title":"Alu elements: know the SINEs","volume":"12","author":"Deininger","year":"2011","journal-title":"Genome Biol"},{"issue":"1","key":"10.1016\/j.nmd.2023.03.001_bib0024","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1186\/s13059-019-1727-y","article-title":"Performance of neural network basecalling tools for Oxford nanopore sequencing","volume":"20","author":"Wick","year":"2019","journal-title":"Genome Biol"},{"key":"10.1016\/j.nmd.2023.03.001_bib0025","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.2147\/DDDT.S214174","article-title":"Disease modifying therapies for the management of children with spinal muscular atrophy (5q SMA): an update on the emerging evidence","volume":"16","author":"Hjartarson","year":"2022","journal-title":"Drug Des Dev Ther"},{"issue":"10063","key":"10.1016\/j.nmd.2023.03.001_bib0026","doi-asserted-by":"crossref","first-page":"3017","DOI":"10.1016\/S0140-6736(16)31408-8","article-title":"Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study","volume":"388","author":"Finkel","year":"2016","journal-title":"Lancet"},{"issue":"10","key":"10.1016\/j.nmd.2023.03.001_bib0027","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1016\/S1474-4422(21)00251-9","article-title":"STR1VE-EU study group. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial","volume":"20","author":"Mercuri","year":"2021","journal-title":"Lancet Neurol"},{"issue":"15","key":"10.1016\/j.nmd.2023.03.001_bib0028","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 Med Chem"},{"key":"10.1016\/j.nmd.2023.03.001_bib0029","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/ejhg.2009.116","article-title":"SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR","volume":"18","author":"Tiziano","year":"2010","journal-title":"Eur J Hum Genet"},{"issue":"8","key":"10.1016\/j.nmd.2023.03.001_bib0030","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1038\/s41436-020-0824-3","article-title":"Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy","volume":"22","author":"Kay","year":"2020","journal-title":"Genet Med"},{"issue":"7","key":"10.1016\/j.nmd.2023.03.001_bib0031","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1002\/ajmg.a.33474","article-title":"Newborn and carrier screening for spinal muscular atrophy","author":"Prior","year":"2010","journal-title":"Am J Med Genet A"},{"issue":"2","key":"10.1016\/j.nmd.2023.03.001_bib0032","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"10.1016\/j.nmd.2023.03.001_bib0033","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/jhg.2015.16","article-title":"A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing","volume":"60","author":"Kubo","year":"2015","journal-title":"J Hum Genet"},{"issue":"3","key":"10.1016\/j.nmd.2023.03.001_bib0034","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","article-title":"An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)","volume":"15","author":"Wirth","year":"2000","journal-title":"Hum Mutat"},{"issue":"9","key":"10.1016\/j.nmd.2023.03.001_bib0035","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1002\/humu.23560","article-title":"Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies","volume":"39","author":"Karakaya","year":"2018","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2023.03.001_bib0036","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1086\/513913","article-title":"When is a deletion not a deletion? When it is converted","volume":"61","author":"Burghes","year":"1997","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.nmd.2023.03.001_bib0037","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1086\/513886","article-title":"Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype","volume":"61","author":"Campbell","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2023.03.001_bib0038","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1002\/ajmg.a.35402","article-title":"Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis","author":"Thauvin-Robinet","year":"2012","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.nmd.2023.03.001_bib0039","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1038\/s41592-018-0001-7","article-title":"Accurate detection of complex structural variations using single-molecule sequencing","volume":"15","author":"Sedlazeck","year":"2018","journal-title":"Nat Methods"},{"issue":"8","key":"10.1016\/j.nmd.2023.03.001_bib0040","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1055\/s-0042-1749345","article-title":"Long-read sequencing identifies the first retrotransposon insertion and resolves structural variants causing antithrombin deficiency","volume":"122","author":"Ouwehand","year":"2022","journal-title":"Thromb Haemost"},{"issue":"6","key":"10.1016\/j.nmd.2023.03.001_bib0041","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.coviro.2013.09.002","article-title":"Alu elements: an intrinsic source of human genome instability","volume":"3","author":"Ade","year":"2013","journal-title":"Curr Opin Virol"},{"issue":"1","key":"10.1016\/j.nmd.2023.03.001_bib0042","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1086\/504600","article-title":"Human genomic deletions mediated by recombination between Alu elements","volume":"79","author":"Sen","year":"2006","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.nmd.2023.03.001_bib0043","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1093\/nar\/gkz1117","article-title":"Sam68 binds Alu-rich introns in SMN and promotes pre-mRNA circularization","volume":"48","author":"Pagliarini","year":"2020","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"10.1016\/j.nmd.2023.03.001_bib0044","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1086\/302369","article-title":"Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling","volume":"64","author":"Wirth","year":"1999","journal-title":"Am J Hum Genet"},{"issue":"7","key":"10.1016\/j.nmd.2023.03.001_bib0045","doi-asserted-by":"crossref","first-page":"e1238","DOI":"10.1002\/mgg3.1238","article-title":"Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing","volume":"8","author":"Jedli\u010dkov\u00e1","year":"2020","journal-title":"Mol Genet Genom Med"},{"issue":"2","key":"10.1016\/j.nmd.2023.03.001_bib0046","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.braindev.2020.09.005","article-title":"Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene","volume":"43","author":"Niba","year":"2021","journal-title":"Brain Dev"},{"issue":"1\u20132","key":"10.1016\/j.nmd.2023.03.001_bib0047","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.jns.2011.06.002","article-title":"Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population","volume":"308","author":"Chen","year":"2011","journal-title":"J Neurol Sci"},{"issue":"3","key":"10.1016\/j.nmd.2023.03.001_bib0048","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1006\/geno.1996.0147","article-title":"Structure and organization of the human survival motor neurone (SMN) gene","volume":"32","author":"B\u00fcrglen","year":"1996","journal-title":"Genomics"},{"issue":"5","key":"10.1016\/j.nmd.2023.03.001_bib0049","first-page":"1057","article-title":"Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease","volume":"59","author":"Hahnen","year":"1996","journal-title":"Am J Hum Genet"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623000652?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623000652?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:13:13Z","timestamp":1760775193000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896623000652"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5]]},"references-count":49,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["S0960896623000652"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2023.03.001","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2023,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2023.03.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}