{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:26:37Z","timestamp":1787235997563,"version":"build-2736575974"},"reference-count":23,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2010,10,1]],"date-time":"2010-10-01T00:00:00Z","timestamp":1285891200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular and Cellular Probes"],"published-print":{"date-parts":[[2010,10]]},"DOI":"10.1016\/j.mcp.2010.07.001","type":"journal-article","created":{"date-parts":[[2010,7,25]],"date-time":"2010-07-25T05:25:34Z","timestamp":1280035534000},"page":"310-314","source":"Crossref","is-referenced-by-count":16,"title":["Quick MLPA test for quantification of SMN1 and SMN2 copy numbers"],"prefix":"10.1016","volume":"24","author":[{"given":"Nadia","family":"Passon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Dubsky de Wittenau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irena","family":"Jurman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Slobodanka","family":"Radovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Bregant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristiano","family":"Molinis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Damante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Incoronata Renata","family":"Lonigro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mcp.2010.07.001_bib1","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1399-0004.1988.tb02854.x","article-title":"Child neuromuscular disease in southern Norway. Prevalence, age and distribution of diagnosis with special reference to \u201cnon-Duchenne muscular dystrophy\u201d","volume":"34","author":"Tangsrud","year":"1988","journal-title":"Clin Genet"},{"key":"10.1016\/j.mcp.2010.07.001_bib2","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1136\/jmg.26.12.761","article-title":"A Hungarian study on Werdnig\u2013Hoffmann disease","volume":"26","author":"Czeizel","year":"1989","journal-title":"J Med Genet"},{"key":"10.1016\/j.mcp.2010.07.001_bib3","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/0960-8966(91)90039-U","article-title":"Population frequencies of inherited neuromuscular diseases - a world survey","volume":"1","author":"Emery","year":"1991","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.mcp.2010.07.001_bib4","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"},{"key":"10.1016\/j.mcp.2010.07.001_bib5","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"},{"key":"10.1016\/j.mcp.2010.07.001_bib6","first-page":"265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"J\u00a0Nat Genet"},{"key":"10.1016\/j.mcp.2010.07.001_bib7","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":"Feldkotter","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.mcp.2010.07.001_bib8","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":"Am J Med Genet"},{"key":"10.1016\/j.mcp.2010.07.001_bib9","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.mcp.2010.07.001_bib10","doi-asserted-by":"crossref","first-page":"e39","DOI":"10.1136\/jmg.40.4.e39","article-title":"Prevalence of SMN1 deletion and duplication in carrier and normal population: implication for genetic counseling","volume":"40","author":"Cusin","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.mcp.2010.07.001_bib11","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of the spinal muscular atrophy determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.mcp.2010.07.001_bib12","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"},{"key":"10.1016\/j.mcp.2010.07.001_bib13","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1002\/humu.20160","article-title":"Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test","volume":"25","author":"Su","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.mcp.2010.07.001_bib14","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1373\/clinchem.2005.061192","article-title":"Determination of SMN1\/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDITOF mass spectrometry","volume":"52","author":"Hung-Yi","year":"2006","journal-title":"Clin Chem"},{"key":"10.1016\/j.mcp.2010.07.001_bib15","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/s10048-006-0051-3","article-title":"Spinal muscular atrophy genotyping by gene dosage using multiplex ligation-dependent probe amplification","volume":"7","author":"Scarciolla","year":"2006","journal-title":"Neurogenetics"},{"issue":"3","key":"10.1016\/j.mcp.2010.07.001_bib16","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.mcp.2009.12.001","article-title":"Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion","volume":"24","author":"Baris","year":"2010","journal-title":"Mol Cell Probes"},{"issue":"12","key":"10.1016\/j.mcp.2010.07.001_bib17","doi-asserted-by":"crossref","first-page":"e57","DOI":"10.1093\/nar\/gnf056","article-title":"Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification","volume":"30","author":"Schouten","year":"2002","journal-title":"Nucleic Acid Res"},{"key":"10.1016\/j.mcp.2010.07.001_bib18","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1089\/gtmb.2008.0084","article-title":"A simple multiplex Real-time PCR methodology for the SMN1 gene copy number quantification","volume":"13","author":"Passon","year":"2009","journal-title":"Genet Test Mol Biomarkers"},{"key":"10.1016\/j.mcp.2010.07.001_bib19","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1002\/humu.10221","article-title":"Determination of SMN1 and SMN2 copy number using TaqMan technology","volume":"22","author":"Anhuf","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.mcp.2010.07.001_bib20","series-title":"Molecular cloning","author":"Sambrook","year":"2001"},{"key":"10.1016\/j.mcp.2010.07.001_bib21","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1016\/j.nmd.2007.03.003","article-title":"Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy","volume":"17","author":"Zapletalov\u00e1","year":"2007","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.mcp.2010.07.001_bib22","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1016\/j.nmd.2006.08.011","article-title":"Multiplex ligationdependent probe amplification improves diagnostics in spinal muscular atrophy","volume":"16","author":"Arkblad","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.mcp.2010.07.001_bib23","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1097\/GIM.0b013e31803d35bc","article-title":"Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification","volume":"9","author":"Huang","year":"2007","journal-title":"Genet Med"}],"container-title":["Molecular and Cellular Probes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0890850810000411?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0890850810000411?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,9]],"date-time":"2018-12-09T01:21:31Z","timestamp":1544318491000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0890850810000411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["S0890850810000411"],"URL":"https:\/\/doi.org\/10.1016\/j.mcp.2010.07.001","relation":{},"ISSN":["0890-8508"],"issn-type":[{"value":"0890-8508","type":"print"}],"subject":[],"published":{"date-parts":[[2010,10]]}}}