{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T21:42:54Z","timestamp":1787175774166,"version":"build-2736575974"},"reference-count":30,"publisher":"Elsevier BV","issue":"2","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":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["20K08197"],"award-info":[{"award-number":["20K08197"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["brainanddevelopment.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2021,2]]},"DOI":"10.1016\/j.braindev.2020.09.005","type":"journal-article","created":{"date-parts":[[2020,10,6]],"date-time":"2020-10-06T18:13:28Z","timestamp":1602008008000},"page":"294-302","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":42,"title":["Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene"],"prefix":"10.1016","volume":"43","author":[{"given":"Emma Tabe Eko","family":"Niba","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisahide","family":"Nishio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yogik Onky Silvana","family":"Wijaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Poh San","family":"Lai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takenori","family":"Tozawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiro","family":"Chiyonobu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Misaki","family":"Yamadera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kentaro","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Awano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Takeshima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshio","family":"Saito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masakazu","family":"Shinohara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.braindev.2020.09.005_b0005","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1002\/ana.23995","article-title":"Spinal muscular atrophy: Development and implementation of potential treatments: Arnold and Burghes: Spinal Muscular Atrophy","volume":"74","author":"Arnold","year":"2013","journal-title":"Ann Neurol"},{"issue":"5-6","key":"10.1016\/j.braindev.2020.09.005_b0010","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0960-8966(06)80015-5","article-title":"International SMA Consortium Meeting (26\u201328 June 1992, Bonn, Germany)","volume":"2","author":"Munsat","year":"1992","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"10.1016\/j.braindev.2020.09.005_b0015","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng0797-265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2020.09.005_b0020","doi-asserted-by":"crossref","unstructured":"Velasco E, Valero C, Valero A, Moreno F, Hern\u00e1ndez-Chico C. Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. Hum Mol Genet. 1996;5:257-63. Erratum in: Hum Mol Genet 1996;5:710.","DOI":"10.1093\/hmg\/5.2.257"},{"issue":"5","key":"10.1016\/j.braindev.2020.09.005_b0025","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/sj.ejhg.5200210","article-title":"Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy","volume":"6","author":"Taylor","year":"1998","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"10.1016\/j.braindev.2020.09.005_b0030","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":"The American Journal of Human Genetics"},{"issue":"2","key":"10.1016\/j.braindev.2020.09.005_b0035","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy","volume":"70","author":"Feldk\u00f6tter","year":"2002","journal-title":"The American Journal of Human Genetics"},{"issue":"3","key":"10.1016\/j.braindev.2020.09.005_b0040","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":"11","key":"10.1016\/j.braindev.2020.09.005_b0045","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"},{"issue":"4","key":"10.1016\/j.braindev.2020.09.005_b0050","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng854","article-title":"Disruption of an SF2\/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1","volume":"30","author":"Cartegni","year":"2002","journal-title":"Nat Genet"},{"issue":"4","key":"10.1016\/j.braindev.2020.09.005_b0055","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1038\/ng1207","article-title":"A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy","volume":"34","author":"Kashima","year":"2003","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.braindev.2020.09.005_b0060","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1086\/498853","article-title":"Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2","volume":"78","author":"Cartegni","year":"2006","journal-title":"The American Journal of Human Genetics"},{"issue":"8955","key":"10.1016\/j.braindev.2020.09.005_b0065","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/S0140-6736(95)90732-7","article-title":"PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy","volume":"345","author":"van der Steege","year":"1995","journal-title":"The Lancet"},{"issue":"3","key":"10.1016\/j.braindev.2020.09.005_b0070","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/ng1195-335","article-title":"A frame\u2013shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients","volume":"11","author":"Bussaglia","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2020.09.005_b0075","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"},{"issue":"2","key":"10.1016\/j.braindev.2020.09.005_b0080","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1136\/jmg.33.2.93","article-title":"Gene deletions in spinal muscular atrophy.","volume":"33","author":"Rodrigues","year":"1996","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2020.09.005_b0085","doi-asserted-by":"crossref","unstructured":"Nishio H, Horikawa H, Yakura H, Sugie K, Nakamuro T, Koterazawa K, et al. Hybrid survival motor neuron genes in Japanese patients with spinal muscular atrophy. Acta Neurol Scand. 1999;99:374-80.","DOI":"10.1111\/j.1600-0404.1999.tb07367.x"},{"issue":"3","key":"10.1016\/j.braindev.2020.09.005_b0090","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1007\/s004390000452","article-title":"Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases","volume":"108","author":"Cusc\u00f3","year":"2001","journal-title":"Hum Genet"},{"issue":"5","key":"10.1016\/j.braindev.2020.09.005_b0095","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"},{"key":"10.1016\/j.braindev.2020.09.005_b0100","doi-asserted-by":"crossref","unstructured":"Omrani O, Bonyadi M, Barzgar M. Molecular analysis of the SMN and NAIP genes in Iranian spinal muscular atrophy patients. Pediatr Int. 2009;51:193-6.","DOI":"10.1111\/j.1442-200X.2008.02665.x"},{"issue":"5","key":"10.1016\/j.braindev.2020.09.005_b0105","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"},{"key":"10.1016\/j.braindev.2020.09.005_b0110","doi-asserted-by":"crossref","unstructured":"Harada Y, Sutomo R, Sadewa AH, Akutsu T, Takeshima Y, Wada H, et al. Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. J Neurol. 2002;249:1211-9.","DOI":"10.1007\/s00415-002-0811-4"},{"issue":"10","key":"10.1016\/j.braindev.2020.09.005_b0115","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1016\/j.braindev.2013.11.009","article-title":"Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients","volume":"36","author":"Yamamoto","year":"2014","journal-title":"Brain and Development"},{"issue":"1","key":"10.1016\/j.braindev.2020.09.005_b0120","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/0092-8674(95)90461-1","article-title":"The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy","volume":"80","author":"Roy","year":"1995","journal-title":"Cell"},{"issue":"3","key":"10.1016\/j.braindev.2020.09.005_b0125","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1111\/j.1442-200X.2008.02590.x","article-title":"SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy","volume":"50","author":"Tran","year":"2008","journal-title":"Pediatr Int"},{"issue":"1","key":"10.1016\/j.braindev.2020.09.005_b0130","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1586\/14737159.4.1.15","article-title":"Spinal muscular atrophy: molecular genetics and diagnostics","volume":"4","author":"Ogino","year":"2004","journal-title":"Expert Review of Molecular Diagnostics"},{"issue":"1","key":"10.1016\/j.braindev.2020.09.005_b0135","doi-asserted-by":"crossref","DOI":"10.1186\/s12891-015-0457-x","article-title":"Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls","volume":"16","author":"Fang","year":"2015","journal-title":"BMC Musculoskelet Disord"},{"key":"10.1016\/j.braindev.2020.09.005_b0140","doi-asserted-by":"crossref","unstructured":"Vijzelaar R, Snetselaar R, Clausen M, Mason AG, Rinsma M, Zegers M, et al. The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent. PLoS One. 2019;14: e0220211.","DOI":"10.1371\/journal.pone.0220211"},{"issue":"12","key":"10.1016\/j.braindev.2020.09.005_b0145","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"},{"key":"10.1016\/j.braindev.2020.09.005_b0150","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"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760420302655?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760420302655?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T19:50:19Z","timestamp":1759953019000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760420302655"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":30,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["S0387760420302655"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2020.09.005","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2021,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2020.09.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}