{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T16:18:20Z","timestamp":1780589900271,"version":"3.54.1"},"reference-count":43,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2022,5]]},"DOI":"10.1016\/j.gene.2022.146322","type":"journal-article","created":{"date-parts":[[2022,2,25]],"date-time":"2022-02-25T02:10:45Z","timestamp":1645755045000},"page":"146322","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"special_numbering":"C","title":["Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA"],"prefix":"10.1016","volume":"823","author":[{"given":"Yunus","family":"Arikan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sibel","family":"Berker Karauzum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6063-377X","authenticated-orcid":false,"given":"Hilmi","family":"Uysal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7257-4618","authenticated-orcid":false,"given":"Ercan","family":"Mihci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Banu","family":"Nur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozgur","family":"Duman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Senay","family":"Haspolat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozden","family":"Altiok Clark","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5531-6825","authenticated-orcid":false,"given":"Asli","family":"Toylu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.gene.2022.146322_b0005","doi-asserted-by":"crossref","first-page":"1554","DOI":"10.1038\/s41431-018-0193-4","article-title":"Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling","volume":"26","author":"Al\u00edas","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"issue":"12","key":"10.1016\/j.gene.2022.146322_b0010","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."},{"issue":"3","key":"10.1016\/j.gene.2022.146322_b0015","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.bcmd.2011.01.004","article-title":"The association between intragenic SNP haplotypes and mutations of the beta globin gene in a Turkish population","volume":"46","author":"Bilgen","year":"2011","journal-title":"Blood Cells, Molecules, and Diseases"},{"issue":"3","key":"10.1016\/j.gene.2022.146322_b0020","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1007\/s00415-018-8968-7","article-title":"Kennedy\u2019s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease","volume":"266","author":"Breza","year":"2019","journal-title":"J. Neurol."},{"issue":"4","key":"10.1016\/j.gene.2022.146322_b0025","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/0888-7543(92)90012-H","article-title":"Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6","volume":"13","author":"Brzustowicz","year":"1992","journal-title":"Genomics"},{"issue":"9","key":"10.1016\/j.gene.2022.146322_b0030","doi-asserted-by":"crossref","first-page":"2575","DOI":"10.1007\/s10072-020-04365-x","article-title":"SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the \u201c2+0\u201d genotype","volume":"41","author":"Ceylan","year":"2020","journal-title":"Neurol. Sci."},{"issue":"2","key":"10.1016\/j.gene.2022.146322_b0035","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/S1090-3798(99)80012-9","article-title":"Very severe spinal muscular atrophy (SMA type 0): An expanding clinical phenotype","volume":"3","author":"Dubowitz","year":"1999","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"9","key":"10.1016\/j.gene.2022.146322_b0040","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"},{"issue":"11","key":"10.1016\/j.gene.2022.146322_b0045","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1007\/s00134-006-0346-8","article-title":"Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1","volume":"32","author":"Giannini","year":"2006","journal-title":"Intensive Care Med"},{"issue":"1","key":"10.1016\/j.gene.2022.146322_b0050","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.ogc.2017.10.005","article-title":"Expanded Carrier Screening","volume":"45","author":"Gregg","year":"2018","journal-title":"Obstet. Gynecol. Clin. North Am."},{"issue":"2","key":"10.1016\/j.gene.2022.146322_b0055","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1007\/s12031-012-9944-9","article-title":"PCR-RFLP, sequencing, and quantification in molecular diagnosis of spinal muscular atrophy: Limits and advantages","volume":"50","author":"Hamzi","year":"2013","journal-title":"J. Mol. Neurosci."},{"key":"10.1016\/j.gene.2022.146322_b0060","doi-asserted-by":"crossref","DOI":"10.1016\/0022-510X(80)90177-X","article-title":"Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature","author":"Harding","year":"1980","journal-title":"J. Neurol. Sci."},{"issue":"9","key":"10.1016\/j.gene.2022.146322_b0065","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmg.2009.066969","article-title":"Differences in SMN1 allele frequencies among ethnic groups within North America","volume":"46","author":"Hendrickson","year":"2009","journal-title":"J. Med. Genet."},{"issue":"8","key":"10.1016\/j.gene.2022.146322_b0070","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1038\/ejhg.2008.41","article-title":"Unaffected patients with a homozygous absence of the SMN1 gene","volume":"16","author":"J\u0119drzejowska","year":"2008","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"10.1016\/j.gene.2022.146322_b0075","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.neurol.2017.03.015","article-title":"Adult-onset spinal muscular atrophy: An update","volume":"173","author":"Juntas Morales","year":"2017","journal-title":"Rev. Neurol. (Paris)."},{"key":"10.1016\/j.gene.2022.146322_b0080","doi-asserted-by":"crossref","first-page":"11","DOI":"10.2147\/TACG.S239603","article-title":"Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance","volume":"14","author":"Keinath","year":"2021","journal-title":"Appl. Clin. Genet."},{"key":"10.1016\/j.gene.2022.146322_b0085","doi-asserted-by":"crossref","unstructured":"Kennedy, W.R., Alter, M., Sung, J.H., 1998. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. Neurology. 10.1212\/wnl.50.3.583.","DOI":"10.1212\/WNL.50.3.583"},{"issue":"4","key":"10.1016\/j.gene.2022.146322_b0090","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","article-title":"Spinal Muscular Atrophy","volume":"33","author":"Kolb","year":"2015","journal-title":"Neurol. Clin."},{"issue":"5","key":"10.1016\/j.gene.2022.146322_b0095","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1001\/archneurpsyc.1956.02330230050005","article-title":"Heredofamilial Juvenile muscular Atrophy Simulating muscular Dystrophy","volume":"75","author":"Kugelberg","year":"1956","journal-title":"Arch. Neurol. Psychiatry."},{"issue":"1","key":"10.1016\/j.gene.2022.146322_b0100","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":"3","key":"10.1016\/j.gene.2022.146322_b0105","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1590\/S0004-282X1962000300006","article-title":"Atrofia muscular proximal familiar","volume":"20","author":"Levy","year":"1962","journal-title":"Arq. Neuropsiquiatr."},{"issue":"9630","key":"10.1016\/j.gene.2022.146322_b0110","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"},{"issue":"2","key":"10.1016\/j.gene.2022.146322_b0115","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/gim.2013.84","article-title":"An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy","volume":"16","author":"Luo","year":"2014","journal-title":"Genet. Med."},{"issue":"2","key":"10.1016\/j.gene.2022.146322_b0120","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":"Eur. J. Paediatr. Neurol."},{"issue":"1","key":"10.1016\/j.gene.2022.146322_b0125","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.jmoldx.2010.11.012","article-title":"Population carrier screening for spinal muscular atrophy: A position statement of the association for molecular pathology","volume":"13","author":"Muralidharan","year":"2011","journal-title":"J. Mol. Diagnostics."},{"issue":"9-10","key":"10.1016\/j.gene.2022.146322_b0130","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.nmd.2007.05.009","article-title":"An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients","volume":"17","author":"O\u2019Hagen","year":"2007","journal-title":"Neuromuscul. Disord."},{"issue":"20","key":"10.1016\/j.gene.2022.146322_b0135","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"},{"issue":"7","key":"10.1016\/j.gene.2022.146322_b0140","doi-asserted-by":"crossref","first-page":"1765","DOI":"10.1016\/j.drudis.2021.03.024","article-title":"Myotonic dystrophy type 1 drug development: A pipeline toward the market","volume":"26","author":"Pascual-Gilabert","year":"2021","journal-title":"Drug Discov. Today"},{"issue":"5","key":"10.1016\/j.gene.2022.146322_b0145","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.mcp.2010.07.001","article-title":"Quick MLPA test for quantification of SMN1 and SMN2 copy numbers","volume":"24","author":"Passon","year":"2010","journal-title":"Mol. Cell. Probes."},{"issue":"4","key":"10.1016\/j.gene.2022.146322_b0150","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/brain\/101.4.591","article-title":"A clinical and genetic study of spinal muscular atrophy of adult onset: The autosomal recessive form as a discrete disease entity","volume":"101","author":"Pearn","year":"1978","journal-title":"Brain"},{"key":"10.1016\/j.gene.2022.146322_b0155","doi-asserted-by":"crossref","unstructured":"Peeters, K., Chamova, T., Jordanova, A., 2014. Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies. Brain 137, 2879. 10.1093\/BRAIN\/AWU169.","DOI":"10.1093\/brain\/awu169"},{"issue":"3","key":"10.1016\/j.gene.2022.146322_b0160","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.a.30251","article-title":"Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2","volume":"130A","author":"Prior","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2022.146322_b0165","unstructured":"Rashnonejad, A., Onay, H., Atik, T., Atan Sahin, O., Gokben, S., Tekgul, H., Ozkinay, F., 2016. Molecular genetic analysis of survival motor neuron gene in 460 Turkish cases with suspicious spinal muscular atrophy disease. Iran. J. Child Neurol. 10. 10.22037\/ijcn.v10i4.10943."},{"issue":"3","key":"10.1016\/j.gene.2022.146322_b0170","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/s004390100473","article-title":"SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens","volume":"108","author":"Rochette","year":"2001","journal-title":"Hum. Genet."},{"issue":"3","key":"10.1016\/j.gene.2022.146322_b0175","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1177\/088307389400900321","article-title":"Pulmonary Function in Spinal Muscular Atrophy","volume":"9","author":"Samaha","year":"1994","journal-title":"J. Child Neurol."},{"issue":"6330","key":"10.1016\/j.gene.2022.146322_b0180","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/352077a0","article-title":"Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy","volume":"352","author":"Spada","year":"1991","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.gene.2022.146322_b0185","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"issue":"4","key":"10.1016\/j.gene.2022.146322_b0190","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.2353\/ajpath.2007.070399","article-title":"Refined characterization of the expression and stability of the SMN gene products","volume":"171","author":"Vitte","year":"2007","journal-title":"Am. J. Pathol."},{"issue":"1","key":"10.1016\/j.gene.2022.146322_b0195","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1146\/annurev-genom-102319-103602","article-title":"Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next","volume":"21","author":"Wirth","year":"2020","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"issue":"5","key":"10.1016\/j.gene.2022.146322_b0200","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/s10038-019-0576-6","article-title":"Carrier screening for spinal muscular atrophy with a simple test based on melting analysis","volume":"64","author":"Xia","year":"2019","journal-title":"J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.gene.2022.146322_b0205","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/jhg.2013.111","article-title":"Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy","volume":"59","author":"Yanyan","year":"2014","journal-title":"J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.gene.2022.146322_b0210","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."},{"issue":"3","key":"10.1016\/j.gene.2022.146322_b0215","first-page":"e18809","article-title":"The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study","volume":"99","author":"Zhang","year":"2020","journal-title":"Med. (United States)"}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811192200141X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811192200141X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T16:50:41Z","timestamp":1759855841000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S037811192200141X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5]]},"references-count":43,"alternative-id":["S037811192200141X"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2022.146322","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2022,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2022.146322","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"146322"}}