{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T03:31:37Z","timestamp":1792812697616,"version":"4.5.0"},"reference-count":42,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T00:00:00Z","timestamp":1072915200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T00:00:00Z","timestamp":1072915200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","jognn.awhonn.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Obstetric, Gynecologic &amp; Neonatal Nursing"],"published-print":{"date-parts":[[2004,1]]},"DOI":"10.1177\/0884217503261125","type":"journal-article","created":{"date-parts":[[2004,1,27]],"date-time":"2004-01-27T17:38:15Z","timestamp":1075225095000},"page":"12-20","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":30,"title":["Spinal Muscular Atrophy in the Neonate"],"prefix":"10.1016","volume":"33","author":[{"given":"Jennifer A.","family":"Markowitz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mindy B.","family":"Tinkle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth H.","family":"Fischbeck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1177\/0884217503261125_bb0010","doi-asserted-by":"crossref","first-page":"2841","DOI":"10.1093\/hmg\/10.24.2841","article-title":"Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients","volume":"10","author":"Andreassi","year":"2001","journal-title":"Human Molecular Genetics"},{"key":"10.1177\/0884217503261125_bb0015","doi-asserted-by":"crossref","first-page":"1961","DOI":"10.1093\/hmg\/6.11.1961","article-title":"Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system","volume":"6","author":"Battaglia","year":"1997","journal-title":"Human Molecular Genetics"},{"key":"10.1177\/0884217503261125_bb0020","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1212\/WNL.49.3.848","article-title":"Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene","volume":"49","author":"Bingham","year":"1997","journal-title":"Neurology"},{"key":"10.1177\/0884217503261125_bb0025","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/S0960-8966(99)00137-6","article-title":"Copies of the survival motor neuron gene in spinal muscular atrophy: The more, the better","volume":"10","author":"Brahe","year":"2000","journal-title":"Neuro-muscular Disorders"},{"key":"10.1177\/0884217503261125_bb0030","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":"Burglen","year":"1996","journal-title":"Genomics"},{"key":"10.1177\/0884217503261125_bb0035","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1093\/hmg\/7.12.1927","article-title":"The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy","volume":"7","author":"Burlet","year":"1998","journal-title":"Human Molecular Genetics"},{"key":"10.1177\/0884217503261125_bb0040","doi-asserted-by":"crossref","first-page":"9808","DOI":"10.1073\/pnas.171105098","article-title":"Treatment of spinal muscular atrophy by sodium butyrate","volume":"98","author":"Chang","year":"2001","journal-title":"Proceedings of the National Academy of Sciences"},{"key":"10.1177\/0884217503261125_bb0045","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1093\/hmg\/6.8.1205","article-title":"The survival motor neuron protein in spinal muscular atrophy","volume":"6","author":"Coovert","year":"1997","journal-title":"Human Molecular Genetics"},{"key":"10.1177\/0884217503261125_bb0050","series-title":"Neuromuscular disorders of infancy and childhood, a clinician's approach","article-title":"Spinal muscular atrophy","author":"Crawford","year":"2002"},{"issue":"11","key":"10.1177\/0884217503261125_bb0055","first-page":"1244","article-title":"Prenatal diagnosis for risk of spinal muscular atrophy","volume":"109","author":"Cusco","year":"2002","journal-title":"British Journal of Genetics"},{"key":"10.1177\/0884217503261125_bb0060","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1093\/molehr\/7.10.995","volume":"7","author":"Daniels","year":"2001","journal-title":"Molecular Human Reproduction"},{"key":"10.1177\/0884217503261125_bb0065","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1002\/ana.410400509","article-title":"Clinical and molecular genetic features of congenital spinal muscular atrophy","volume":"40","author":"DeVriendt","year":"1996","journal-title":"Annals of Neurology"},{"key":"10.1177\/0884217503261125_bb0070","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1093\/molehr\/4.9.881","article-title":"Preimplantation genetic diagnosis of spinal muscular atrophy","volume":"4","author":"Dreesen","year":"1998","journal-title":"Molecular Human Reproduction"},{"key":"10.1177\/0884217503261125_bb0075","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/0960-8966(91)90039-U","article-title":"Population frequencies of inherited neuromuscular diseases\u2014A world survey","volume":"1","author":"Emery","year":"1991","journal-title":"Neuromuscular Disorders"},{"key":"10.1177\/0884217503261125_bb0080","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1177\/088307380101601213","article-title":"Long\u2010term survival in a child with arthrogryposis multiplex congenita and spinal muscular atrophy","volume":"16","author":"Falsaperla","year":"2001","journal-title":"Journal of Child Neurology"},{"key":"10.1177\/0884217503261125_bb0085","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative analyses of SMN1 and SMN2 based on real\u2010time LightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy","volume":"70","author":"Feldkotter","year":"2002","journal-title":"American Journal of Human Genetics"},{"issue":"4","key":"10.1177\/0884217503261125_bb0090","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/s00401-002-0566-0","article-title":"Motoneuron death in normal and spinal muscular atrophy\u2010affected human fetuses","volume":"104","author":"Fidzianska","year":"2002","journal-title":"Acta Neuropathologica (Berlin)"},{"key":"10.1177\/0884217503261125_bb0095","series-title":"When children die: Improving palliative and end\u2010of\u2010life care for children and their families","author":"Field","year":"2003"},{"key":"10.1177\/0884217503261125_bb0100","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/71709","article-title":"A mouse model for spinal muscular atrophy","volume":"24","author":"Hsieh\u2010Li","year":"2000","journal-title":"Nature Genetics"},{"key":"10.1177\/0884217503261125_bb0105","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1055\/s-2008-1040858","article-title":"Spinal muscular atrophy","volume":"18","author":"Iannaccone","year":"1998","journal-title":"Seminars in Neurology"},{"key":"10.1177\/0884217503261125_bb0110","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1111\/j.1552-6909.2002.tb00040.x","article-title":"Reproductive options for individuals at risk for transmission of a genetic disorder","volume":"31","author":"Jones","year":"2001","journal-title":"Journal of Obstetric, Gynecologic, and Neonatal Nursing"},{"key":"10.1177\/0884217503261125_bb0115","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1097\/00125817-200209000-00008","article-title":"End\u2010of\u2010life issues in genetic disorders: Literature and research directions","volume":"4","author":"Knebel","year":"2002","journal-title":"Genetics in Medicine"},{"key":"10.1177\/0884217503261125_bb0120","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/hmg\/9.2.259","article-title":"An exonic enhancer is required for inclusion of an essential exon in the spinal muscular atrophy\u2010defining gene SMN","volume":"9","author":"Lorson","year":"2000","journal-title":"Human Molecular Genetics"},{"key":"10.1177\/0884217503261125_bb0125","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":"Proceedings of the National Academy of Sciences"},{"issue":"2","key":"10.1177\/0884217503261125_bb0130","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S1090-3798(99)80015-4","article-title":"Prenatal onset spinal muscular atrophy","volume":"3","author":"MacLeod","year":"1999","journal-title":"European Journal of Paediatric Neurology"},{"key":"10.1177\/0884217503261125_bb0135","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S0022-510X(01)00632-3","article-title":"A placebo\u2010controlled trial of gabapeutin in spinal muscular atrophy","volume":"191","author":"Miller","year":"2001","journal-title":"Journal of the Neurological Sciences"},{"key":"10.1177\/0884217503261125_bb0140","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1089\/109065799316554","article-title":"Prenatal diagnosis of spinal muscular atrophy by direct molecular analysis: Efficacy and potential pitfalls","volume":"3","author":"Milunsky","year":"1999","journal-title":"Genetic Testing"},{"key":"10.1177\/0884217503261125_bb0145","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1093\/hmg\/9.3.333","article-title":"The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn (\u2010\/\u2010) mice and results in a mouse with spinal muscular atrophy","volume":"9","author":"Monani","year":"2000","journal-title":"Human Molecular Genetics"},{"key":"10.1177\/0884217503261125_bb0150","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":"Neuro-muscular Disorders"},{"issue":"1","key":"10.1177\/0884217503261125_bb0155","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1002\/mus.10110","article-title":"Spinal muscular atrophy: Recent advances and future prospects","volume":"26","author":"Nicole","year":"2002","journal-title":"Muscle & Nerve"},{"issue":"4","key":"10.1177\/0884217503261125_bb0160","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/ajmg.10425","article-title":"Genetic risk assessment in carrier testing for spinal muscular atrophy","volume":"110","author":"Ogino","year":"2002","journal-title":"American Journal of Medical Genetics"},{"key":"10.1177\/0884217503261125_bb0165","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1046\/j.1440-1754.1999.00351.x","article-title":"The role of palliative care in advanced muscular dystrophy and spinal muscular atrophy","volume":"35","author":"Parker","year":"1999","journal-title":"Journal of Paediatric Child Health"},{"key":"10.1177\/0884217503261125_bb0170","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/S0092-8674(00)81632-3","article-title":"Novel function for SMN, the spinal muscular atrophy disease gene product, in pre\u2010mRNA splicing","volume":"95","author":"Pellizzoni","year":"1998","journal-title":"Cell"},{"key":"10.1177\/0884217503261125_bb0175","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1038\/sj.ejhg.5200667","article-title":"Best practice guidelines for molecular analysis in spinal muscular atrophy","volume":"9","author":"Scheffer","year":"2001","journal-title":"European Journal of Human Genetics"},{"key":"10.1177\/0884217503261125_bb0180","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1111\/j.1750-3639.2001.tb00395.x","article-title":"Spinal muscular atrophy: Present state","volume":"11","author":"Schmalbruch","year":"2001","journal-title":"Brain Pathology"},{"key":"10.1177\/0884217503261125_bb0185","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1089\/109065701750168662","article-title":"A single strand conformational polymorphism\u2010based carrier test for spinal muscular atrophy","volume":"5","author":"Semprini","year":"2001","journal-title":"Genetic Testing"},{"key":"10.1177\/0884217503261125_bb0190","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1016\/S0960-9822(01)00517-6","article-title":"Macromolecular complexes: SMN\u2014The master assembler","volume":"11","author":"Terns","year":"2001","journal-title":"Current Biology"},{"key":"10.1177\/0884217503261125_bb0195","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1002\/(SICI)1097-0223(199906)19:6<587::AID-PD584>3.0.CO;2-A","article-title":"The association of increased fetal nuchal translucency and spinal muscular atrophy type I","volume":"19","author":"Stiller","year":"1999","journal-title":"Prenatal Diagnosis"},{"key":"10.1177\/0884217503261125_bb0200","series-title":"Neurology of the newborn","author":"Volpe","year":"2000"},{"key":"10.1177\/0884217503261125_bb0205","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 spinal muscular atrophy (SMA)","volume":"15","author":"Wirth","year":"2000","journal-title":"Human Mutation"},{"key":"10.1177\/0884217503261125_bb0210","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\u2010phenotype correlation, and implications for genetic counseling","volume":"64","author":"Wirth","year":"1999","journal-title":"American Journal of Human Genetics"},{"key":"10.1177\/0884217503261125_bb0215","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1086\/301608","article-title":"De novo rearrangements found in 2% of index patients with spinal muscular atrophy: Mutational mechanisms, parental origins, mutation rate, and implications for genetic counseling","volume":"61","author":"Wirth","year":"1997","journal-title":"American Journal of Human Genetics"}],"container-title":["Journal of Obstetric, Gynecologic &amp; Neonatal Nursing"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0884217515341356?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0884217515341356?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:53:42Z","timestamp":1760126022000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0884217515341356"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,1]]},"references-count":42,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,1]]}},"alternative-id":["S0884217515341356"],"URL":"https:\/\/doi.org\/10.1177\/0884217503261125","relation":{},"ISSN":["0884-2175"],"issn-type":[{"value":"0884-2175","type":"print"}],"subject":[],"published":{"date-parts":[[2004,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Spinal Muscular Atrophy in the Neonate","name":"articletitle","label":"Article Title"},{"value":"Journal of Obstetric, Gynecologic & Neonatal Nursing","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1177\/0884217503261125","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2004 AWHONN, the Association of Women's Health, Obstetric and Neonatal Nurses. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}