{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T04:13:21Z","timestamp":1776312801618,"version":"3.50.1"},"reference-count":39,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2017,10,1]],"date-time":"2017-10-01T00:00:00Z","timestamp":1506816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","brainanddevelopment.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2017,10]]},"DOI":"10.1016\/j.braindev.2017.04.018","type":"journal-article","created":{"date-parts":[[2017,6,8]],"date-time":"2017-06-08T04:15:56Z","timestamp":1496895356000},"page":"763-773","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"title":["Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients"],"prefix":"10.1016","volume":"39","author":[{"given":"Kaori","family":"Kaneko","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reiko","family":"Arakawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mari","family":"Urano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryoko","family":"Aoki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kayoko","family":"Saito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2017.04.018_b0005","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/0022-510X(78)90242-3","article-title":"A clinical study of chronic childhood spinal muscular atrophy","volume":"38","author":"Pearn","year":"1978","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.braindev.2017.04.018_b0010","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1006\/nbdi.1996.0010","article-title":"The neurobiology of childhood spinal muscular atrophy","volume":"3","author":"Crawford","year":"1996","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.braindev.2017.04.018_b0015","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1001\/archneur.1995.00540290108025","article-title":"Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications","volume":"52","author":"Zerres","year":"1995","journal-title":"Arch Neurol"},{"key":"10.1016\/j.braindev.2017.04.018_b0020","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S0022-510X(96)00284-5","article-title":"A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients","volume":"146","author":"Zerres","year":"1997","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.braindev.2017.04.018_b0025","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1002\/ajmg.a.33474","article-title":"Newborn and carrier screening for spinal muscular atrophy","volume":"152A","author":"Prior","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2017.04.018_b0030","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":"Hum Genet"},{"key":"10.1016\/j.braindev.2017.04.018_b0035","first-page":"167","article-title":"Phenotype-genotype correlation in Japanese spinal muscular atrophy patients: analysis of DNA and mRNA of the SMN gene","volume":"74","author":"Ito","year":"2004","journal-title":"J Tokyo Wom Med Univ"},{"key":"10.1016\/j.braindev.2017.04.018_b0040","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1016\/j.braindev.2013.11.009","article-title":"Intragenic mutation in SMN1 may contribute more significantly to clinical severity than SMN2 copy number in some spinal muscular atrophy (SMA) patients","volume":"36","author":"Yamamoto","year":"2014","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2017.04.018_b0045","doi-asserted-by":"crossref","first-page":"e0139950","DOI":"10.1371\/journal.pone.0139950","article-title":"Biomarker for spinal muscular atrophy: Expression of SMN in peripheral blood of SMA patients and healthy controls","volume":"10","author":"Czech","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.braindev.2017.04.018_b0050","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.braindev.2017.04.018_b0055","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"},{"key":"10.1016\/j.braindev.2017.04.018_b0060","first-page":"93","article-title":"Clinical features and molecular genetic diagnosis of proximal spinal muscular atrophy in childhood","volume":"68","author":"Shiraiwa","year":"1998","journal-title":"J Tokyo Wom Med Coll"},{"key":"10.1016\/j.braindev.2017.04.018_b0065","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1111\/ahg.12031","article-title":"Spinal muscular atrophy: From gene discovery to clinical trials","volume":"77","author":"Nurputra","year":"2013","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.braindev.2017.04.018_b0070","doi-asserted-by":"crossref","first-page":"2481","DOI":"10.1093\/hmg\/ddg256","article-title":"Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy","volume":"12","author":"Brichta","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2017.04.018_b0075","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1002\/ana.10743","article-title":"Valproic acid increases SMN levels in spinal muscular atrophy patient cells","volume":"54","author":"Sumner","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1016\/j.braindev.2017.04.018_b0080","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1002\/ana.20836","article-title":"In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate","volume":"59","author":"Brichta","year":"2006","journal-title":"Ann Neurol"},{"key":"10.1016\/j.braindev.2017.04.018_b0085","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1212\/01.wnl.0000231139.26253.d0","article-title":"Valproate may improve strength and function in patients with type III\/IV spinal muscle atrophy","volume":"67","author":"Weihl","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2017.04.018_b0090","doi-asserted-by":"crossref","first-page":"e5268","DOI":"10.1371\/journal.pone.0005268","article-title":"Phase II open label study of valproic acid in spinal muscular atrophy","volume":"4","author":"Swoboda","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.braindev.2017.04.018_b0095","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"},{"key":"10.1016\/j.braindev.2017.04.018_b0100","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1083\/jcb.201207087","article-title":"Antisense-based therapy for the treatment of spinal muscular atrophy","volume":"199","author":"Rigo","year":"2012","journal-title":"J Cell Biol"},{"key":"10.1016\/j.braindev.2017.04.018_b0105","first-page":"115","article-title":"The analysis of the course of disability in Werdnig \u2212 Hoffmann disease (in Japanese)","volume":"23","author":"Okawa","year":"1986","journal-title":"Rehabilitation Igaku (Tokyo)"},{"key":"10.1016\/j.braindev.2017.04.018_b0110","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/j.nmd.2015.04.009","article-title":"209th ENMC International workshop: Outcome measures and clinical trial readiness in spinal muscular atrophy 7\u20139 November 2014, Heemskerk, The Netherlands","volume":"25","author":"Finkel","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.braindev.2017.04.018_b0115","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1016\/j.nmd.2006.08.011","article-title":"Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy","volume":"16","author":"Arkblad","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.braindev.2017.04.018_b0120","doi-asserted-by":"crossref","first-page":"111","DOI":"10.4236\/ojgen.2013.32014","article-title":"1000 sample comparison of MLPA and RT-PCR for carrier detection and diagnostic testing for spinal muscular atrophy type 1","volume":"3","author":"Strom","year":"2013","journal-title":"Open J Genet"},{"key":"10.1016\/j.braindev.2017.04.018_b0125","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.gene.2012.12.109","article-title":"Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy","volume":"518","author":"He","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.braindev.2017.04.018_b0130","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.2017.04.018_b0135","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"},{"key":"10.1016\/j.braindev.2017.04.018_b0140","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1007\/s00415-002-0811-4","article-title":"Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity","volume":"249","author":"Harada","year":"2002","journal-title":"J Neurol"},{"key":"10.1016\/j.braindev.2017.04.018_b0145","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1212\/WNL.0000000000000741","article-title":"Observational study of spinal muscular atrophy type I and implications for clinical trials","volume":"83","author":"Finkel","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2017.04.018_b0150","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/j.nmd.2008.05.008","article-title":"Survival in SMA type I: a prospective analysis of 34 consecutive cases","volume":"18","author":"Cobben","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.braindev.2017.04.018_b0155","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1212\/01.wnl.0000290830.40544.b9","article-title":"The changing natural history of spinal muscular atrophy type 1","volume":"69","author":"Oskoui","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2017.04.018_b0160","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/ppul.10110","article-title":"Spinal muscular atrophy type 1: management and outcomes","volume":"34","author":"Bach","year":"2002","journal-title":"Pediatr Pulmonol"},{"key":"10.1016\/j.braindev.2017.04.018_b0165","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.braindev.2005.02.009","article-title":"Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival","volume":"27","author":"Hachiya","year":"2005","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2017.04.018_b0170","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1378\/chest.126.3.831","article-title":"Respiratory capacity course in patients with infantile spinal muscular atrophy","volume":"126","author":"Ioos","year":"2004","journal-title":"Chest"},{"key":"10.1016\/j.braindev.2017.04.018_b0175","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1111\/jpc.12291","article-title":"Management of children with spinal muscular atrophy type 1 in Australia","volume":"49","author":"Tassie","year":"2013","journal-title":"J Peadiatr Child Health"},{"key":"10.1016\/j.braindev.2017.04.018_b0180","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1002\/ppul.21617","article-title":"International survey of physician recommendation for tracheostomy for spinal muscular atrophy type I","volume":"47","author":"Benson","year":"2012","journal-title":"Pediatr Pulmonol"},{"key":"10.1016\/j.braindev.2017.04.018_b0185","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1177\/0883073807305788","article-title":"Consensus statement for standard of care in spinal muscular atrophy","volume":"22","author":"Wang","year":"2007","journal-title":"J Child Neurol"},{"key":"10.1016\/j.braindev.2017.04.018_b0190","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":"Cusco","year":"2001","journal-title":"Hum Genet"},{"key":"10.1016\/j.braindev.2017.04.018_b0195","first-page":"1057","article-title":"Hybrid survival motor neuron gene 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":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760417301389?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760417301389?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T02:20:15Z","timestamp":1535768415000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760417301389"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10]]},"references-count":39,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["S0387760417301389"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2017.04.018","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2017,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2017.04.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}