{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:39:06Z","timestamp":1789763946524,"version":"4.0.1"},"reference-count":54,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2019,5,3]],"date-time":"2019-05-03T00:00:00Z","timestamp":1556841600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Fundaci\u00f3n Daniel Bravo Andreu"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1038\/s41431-019-0415-4","type":"journal-article","created":{"date-parts":[[2019,5,3]],"date-time":"2019-05-03T17:04:25Z","timestamp":1556903065000},"page":"1774-1782","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":42,"title":["Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors"],"prefix":"10.1038","volume":"27","author":[{"given":"Clara","family":"Serra-Juhe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo F.","family":"Tizzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,5,3]]},"reference":[{"key":"415_CR1","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ejhg.2011.134","volume":"20","author":"EA Sugarman","year":"2012","unstructured":"Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, et al. Pan-ethic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012;20:27\u201332.","journal-title":"Eur J Hum Genet"},{"key":"415_CR2","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1212\/WNL.0000000000000741","volume":"83","author":"RS Finkel","year":"2014","unstructured":"Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014;83:810\u20137.","journal-title":"Neurology"},{"key":"415_CR3","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1002\/ana.25101","volume":"82","author":"SJ Kolb","year":"2017","unstructured":"Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, et al. Natural history of infantile-onset spinal muscular atrophy. Ann Neurol. 2017;82:883\u201391.","journal-title":"Ann Neurol"},{"key":"415_CR4","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/gt.2017.52","volume":"24","author":"K Talbot","year":"2017","unstructured":"Talbot K, Tizzano EF. The clinical landscape for SMA in a new therapeutic era. Gene Ther. 2017;24:529\u201333.","journal-title":"Gene Ther"},{"key":"415_CR5","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","volume":"80","author":"S Lefebvre","year":"1995","unstructured":"Lefebvre S, B\u00fcrglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy- determining gene. Cell. 1995;80:155\u201365.","journal-title":"Cell"},{"key":"415_CR6","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/s00439-008-0598-1","volume":"125","author":"L Al\u00edas","year":"2009","unstructured":"Al\u00edas L, Bernal S, Fuentes-Prior P, Barcel\u00f3 MJ, Also E, Mart\u00ednez-Hern\u00e1ndez R, et al. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet. 2009;125:29\u201339.","journal-title":"Hum Genet"},{"key":"415_CR7","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","volume":"28","author":"M Calucho","year":"2018","unstructured":"Calucho M, Bernal S, Alias L, March F, Vencesl\u00e1 A, Rodr\u00edguez-\u00c1lvarez FJ, et al. Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2,834 reported cases. Neuromuscul Disord. 2018;28:208\u201315.","journal-title":"Neuromuscul Disord"},{"key":"415_CR8","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1006\/geno.1996.0147","volume":"32","author":"L B\u00fcrglen","year":"1996","unstructured":"B\u00fcrglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, et al. Structure and organization of the human survival motor neurone [SMN] gene. Genomics. 1996;32:479\u201382.","journal-title":"Genomics"},{"key":"415_CR9","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.nmd.2017.05.011","volume":"27","author":"EF Tizzano","year":"2017","unstructured":"Tizzano EF, Finkel RS. Spinal muscular atrophy: a changing phenotype beyond the clinical trials. Neuromuscul Disord. 2017;27:883\u20139.","journal-title":"Neuromuscul Disord"},{"key":"415_CR10","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","volume":"28","author":"E Mercuri","year":"2018","unstructured":"Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28:103\u201315.","journal-title":"Neuromuscul Disord"},{"key":"415_CR11","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.nmd.2017.11.004","volume":"28","author":"RS Finkel","year":"2018","unstructured":"Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018;28:197\u2013207.","journal-title":"Neuromuscul Disord"},{"key":"415_CR12","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1016\/j.nmd.2016.10.002","volume":"26","author":"R De Sanctis","year":"2016","unstructured":"De Sanctis R, Coratti G, Pasternak A, Montes J, Pane M, Mazzone ES, et al. Developmental milestones in type I spinal muscular atrophy. Neuromuscul Disord. 2016;26:754\u20139.","journal-title":"Neuromuscul Disord"},{"key":"415_CR13","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1212\/WNL.0b013e318271f7e4","volume":"79","author":"P Kaufmann","year":"2012","unstructured":"Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012;79:1889\u201397.","journal-title":"Neurology"},{"key":"415_CR14","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.nmd.2015.10.006","volume":"26","author":"E Mercuri","year":"2016","unstructured":"Mercuri E, Finkel R, Montes J, Mazzone ES, Sormani MP, Main M, et al. Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials. Neuromuscul Disord. 2016;26:126\u201331.","journal-title":"Neuromuscul Disord"},{"key":"415_CR15","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1001\/archneur.1995.00540290108025","volume":"52","author":"K Zerres","year":"1995","unstructured":"Zerres K, Rudnik-Sch\u00f6neborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995;52:518\u201323.","journal-title":"Arch Neurol"},{"key":"415_CR16","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1002\/ana.20473","volume":"57","author":"KJ Swoboda","year":"2005","unstructured":"Swoboda KJ, Prior TW, Scott CB, McNaught TP, Wride MC, Reyna SP, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005;57:704\u201312.","journal-title":"Ann Neurol"},{"key":"415_CR17","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","volume":"377","author":"RS Finkel","year":"2017","unstructured":"Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377:1723\u201332.","journal-title":"N Engl J Med"},{"key":"415_CR18","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1056\/NEJMoa1710504","volume":"378","author":"E Mercuri","year":"2018","unstructured":"Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, et al. Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med. 2018;378:625\u201335.","journal-title":"N Engl J Med"},{"key":"415_CR19","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","volume":"377","author":"JR Mendell","year":"2017","unstructured":"Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377:1713\u201322.","journal-title":"N Engl J Med"},{"key":"415_CR20","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/nbt.1610","volume":"28","author":"KD Foust","year":"2010","unstructured":"Foust KD, Wang X, Mcgovern VL, Braun L, Bevan AK, Haidet AM, et al. Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol. 2010;28:271\u20134.","journal-title":"Nat Biotechnol"},{"key":"415_CR21","doi-asserted-by":"crossref","first-page":"e14","DOI":"10.1016\/j.ejpn.2017.04.1218","volume":"21","author":"E Bertini","year":"2017","unstructured":"Bertini E, Hwu W-L, Reyna SP, Farwell W, Gheuens S, Sun P, et al. Efficacy and safety of nusinersen in infants with presymptomatic spinal muscular atrophy [SMA]: Interim results from the NURTURE study. Eur J Paediatr Neurol. 2017;21:e14.","journal-title":"Eur J Paediatr Neurol"},{"key":"415_CR22","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1046\/j.1471-0528.2002.02083.x","volume":"109","author":"I Cusc\u00f3","year":"2002","unstructured":"Cusc\u00f3 I, Barcel\u00f3 MJ, Soler C, Parra J, Baiget M, Tizzano E. Prenatal diagnosis for risk of spinal muscular atrophy. BJOG. 2002;109:1244\u20139.","journal-title":"BJOG"},{"key":"415_CR23","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.jpeds.2017.06.042","volume":"190","author":"YH Chien","year":"2017","unstructured":"Chien YH, Chiang SC, Weng WC, Lee NC, Lin CJ, Hsieh WS, et al. Presymptomatic diagnosis of spinal muscular atrophy through newborn screening. J Pediatr. 2017;190:124\u20139.","journal-title":"J Pediatr"},{"key":"415_CR24","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.nmd.2011.03.009","volume":"21","author":"S Bernal","year":"2011","unstructured":"Bernal S, Also-Rallo E, Mart\u00ednez-Hern\u00e1ndez R, Al\u00edas L, Rodr\u00edguez-Alvarez FJ, Mill\u00e1n JM, et al. Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings. Neuromuscul Disord. 2011;21:413\u20139.","journal-title":"Neuromuscul Disord"},{"key":"415_CR25","first-page":"723","volume":"60","author":"S Medrano","year":"2016","unstructured":"Medrano S, Monges S, Gravina LP, Al\u00edas L, Mozzoni J, Ar\u00e1oz HV, et al. Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina. Eur J Paediatr Neurol. 2016;60:723\u20138.","journal-title":"Eur J Paediatr Neurol"},{"key":"415_CR26","first-page":"281","volume":"65","author":"JM Wilson","year":"1968","unstructured":"Wilson JM, Jungner YG. [Principles and practice of mass screening for disease]. Bol Oficina Sanit Panam. 1968;65:281\u2013393.","journal-title":"Bol Oficina Sanit Panam"},{"key":"415_CR27","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.nmd.2012.09.006","volume":"23","author":"RS Finkel","year":"2013","unstructured":"Finkel RS. Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I. Neuromuscul Disord. 2013;23:112\u20135.","journal-title":"Neuromuscul Disord"},{"issue":"6","key":"415_CR28","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1016\/j.ejpn.2018.08.009","volume":"22","author":"Eduardo F. Tizzano","year":"2018","unstructured":"Tizzano EF, Zafeiriou D. Prenatal aspects in spinal muscular atrophy: from early detection to early presymptomatic intervention. Eur J Paediatr Neurol. 2018;22:944\u201350.","journal-title":"European Journal of Paediatric Neurology"},{"key":"415_CR29","doi-asserted-by":"crossref","first-page":"145","DOI":"10.3233\/JND-180304","volume":"5","author":"J Glascock","year":"2018","unstructured":"Glascock J, Sampson J, Haidet-Phillips A, Connolly A, Darras B, Day J, et al. Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening. J Neuromuscul Dis. 2018;5:145\u201358.","journal-title":"J Neuromuscul Dis"},{"key":"415_CR30","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-016-0424-0","volume":"11","author":"C Klug","year":"2016","unstructured":"Klug C, Schreiber-Katz O, Thiele S, Schorling E, Zowe J, Reilich P, et al. Disease burden of spinal muscular atrophy in Germany. Orphanet J Rare Dis. 2016;11:58.","journal-title":"Orphanet J Rare Dis"},{"key":"415_CR31","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-017-0695-0","volume":"12","author":"J L\u00f3pez-Bastida","year":"2017","unstructured":"L\u00f3pez-Bastida J, Pe\u00f1a-Longobardo LM, Aranda-Reneo I, Tizzano E, Sefton M, Oliva-Moreno J. Social\/economic costs and health-related quality of life in patients with spinal muscular atrophy [SMA] in Spain. Orphanet J Rare Dis. 2017;12:141.","journal-title":"Orphanet J Rare Dis"},{"key":"415_CR32","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1038\/gt.2017.32","volume":"24","author":"NMP King","year":"2017","unstructured":"King NMP, Bishop CE. New treatments for serious conditions: ethical implications. Gene Ther. 2017;24:534\u20138.","journal-title":"Gene Ther"},{"key":"415_CR33","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1111\/cge.12222","volume":"85","author":"L Al\u00edas","year":"2014","unstructured":"Al\u00edas L, Barcel\u00f3 MJ, Bernal S, Mart\u00ednez-Hern\u00e1ndez R, Also-Rallo E, V\u00e1zquez C, et al. Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene. Clin Genet. 2014;85:470\u20135.","journal-title":"Clin Genet"},{"key":"415_CR34","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/gim.2013.84","volume":"16","author":"M Luo","year":"2014","unstructured":"Luo M, Liu L, Peter I, Zhu J, Scott SA, Zhao G, et al. An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. Genet Med. 2014;16:149\u201356.","journal-title":"Genet Med"},{"issue":"10","key":"415_CR35","doi-asserted-by":"crossref","first-page":"1554","DOI":"10.1038\/s41431-018-0193-4","volume":"26","author":"Laura Al\u00edas","year":"2018","unstructured":"Al\u00edas L, Bernal S, Calucho M, Mart\u00ednez E, March F, Gallano P, et al. Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling. Eur J Hum Genet. 2018;26:1554\u20137.","journal-title":"European Journal of Human Genetics"},{"key":"415_CR36","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.ajhg.2009.08.002","volume":"85","author":"TW Prior","year":"2009","unstructured":"Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, et al. A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet. 2009;85:408\u201313.","journal-title":"Am J Hum Genet"},{"key":"415_CR37","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1136\/jmg.2010.079004","volume":"47","author":"S Bernal","year":"2010","unstructured":"Bernal S, Al\u00edas L, Barcel\u00f3 MJ, Also-Rallo E, Mart\u00ednez-Hern\u00e1ndez R, G\u00e1mez J, et al. The c.859>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. J Med Genet. 2010;47:640\u20132.","journal-title":"J Med Genet"},{"key":"415_CR38","doi-asserted-by":"crossref","first-page":"2768","DOI":"10.1093\/hmg\/ddx166","volume":"26","author":"X Wu","year":"2017","unstructured":"Wu X, Wang SH, Sun J, Krainer AR, Hua Y, Prior TW. A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy. Hum Mol Genet. 2017;26:2768\u201380.","journal-title":"Hum Mol Genet"},{"key":"415_CR39","doi-asserted-by":"publisher","first-page":"S79","DOI":"10.1002\/acn3.779","volume":"28","author":"B Darras","year":"2018","unstructured":"Darras B, Crawford T, \u00a0Finkel R, Mercuri E, De Vivo D, Oskoui M, Tizzano E, et al.\u00a0 Neurofilament as a potential biomarker for spinal muscular atrophy. Ann Clin Transl Neurol. 2019. \nhttps:\/\/doi.org\/10.1002\/acn3.779\n\n.","journal-title":"Neuromusc Disord"},{"key":"415_CR40","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1038\/ejhg.2008.41","volume":"16","author":"M Jedrzejowska","year":"2008","unstructured":"Jedrzejowska M, Borkowska J, Zimowski J, Kostera-Pruszczyk A, Milewski M, Jurek M, et al. Unaffected patients with a homozygous absence of the SMN1 gene. Eur J Hum Genet. 2008;16:930\u20134.","journal-title":"Eur J Hum Genet"},{"key":"415_CR41","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1399-0004.1986.tb00586.x","volume":"30","author":"G Bouwsma","year":"1986","unstructured":"Bouwsma G, Leschot NJ. Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis. Clin Genet. 1986;30:145\u20139.","journal-title":"Clin Genet"},{"key":"415_CR42","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1126\/science.1155085","volume":"320","author":"GE Oprea","year":"2008","unstructured":"Oprea GE, Krober S, McWhorter ML, Rossoll W, M\u00fcller S, Krawczak M, et al. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science. 2008;320:524\u20137.","journal-title":"Science"},{"key":"415_CR43","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.ajhg.2017.01.005","volume":"100","author":"M Riessland","year":"2017","unstructured":"Riessland M, Kaczmarek A, Schneider S, Swoboda KJ, L\u00f6hr H, Bradler C, et al. Neurocalcin delta suppression protects against spinal muscular atrophy in humans and across species by restoring impaired endocytosis. Am J Hum Genet. 2017;100:297\u2013315.","journal-title":"Am J Hum Genet"},{"key":"415_CR44","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/humu.10245","volume":"22","author":"I Cusco","year":"2003","unstructured":"Cusco I, Lopez E, Soler-Botija C, Barcelo MJ, Baiget M, Tizzano EF. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. Hum Mutat. 2003;22:136\u201343.","journal-title":"Hum Mutat"},{"key":"415_CR45","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1038\/ejhg.2009.25","volume":"17","author":"P Borry","year":"2009","unstructured":"Borry P, Evers-Kiebooms G, Cornel MC, Clarke A, Dierickx K. Public and Professional Policy Committee [PPPC] of the European Society of Human Genetics [ESHG]. Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations. Eur J Hum Genet. 2009;17:711\u20139.","journal-title":"Eur J Hum Genet"},{"key":"415_CR46","doi-asserted-by":"crossref","first-page":"487","DOI":"10.3233\/JND-160177","volume":"3","author":"S Grotto","year":"2016","unstructured":"Grotto S, Cuisset JM, Marret S, Drunat S, Faure P, Audebert-Bellanger S, et al. Type 0 spinal muscular atrophy: further delineation of prenatal and postnatal features in 16 patients. J Neuromuscul Dis. 2016;3:487\u201395.","journal-title":"J Neuromuscul Dis"},{"key":"415_CR47","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1136\/jnnp-2016-314292","volume":"88","author":"R Wadman","year":"2017","unstructured":"Wadman R, Stam M, Gijzen M, Lemmink HH, Snoeck IN, Wijngaarde CA, et al. Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4. J Neurol Neurosurg Psychiatry. 2017;88:365\u20137.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"415_CR48","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s00439-006-0156-7","volume":"119","author":"B Wirth","year":"2006","unstructured":"Wirth B, Brichta L, Schrank B, Lochm\u00fcller H, Blick S, Baasner A, et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet. 2006;119:422\u20138.","journal-title":"Hum Genet"},{"key":"415_CR49","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1373\/clinchem.2014.231019","volume":"61","author":"JL Taylor","year":"2015","unstructured":"Taylor JL, Lee FK, Yazdanpanah GK, Staropoli JF, Liu M, Carulli JP, et al. Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency. Clin Chem. 2015;61:412\u20139.","journal-title":"Clin Chem"},{"key":"415_CR50","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1038\/gim.2017.152","volume":"20","author":"JN Kraszewski","year":"2018","unstructured":"Kraszewski JN, Kay DM, Stevens CF, Koval C, Haser B, Ortiz V, et al. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Genet Med. 2018;20:608\u201313.","journal-title":"Genet Med"},{"key":"415_CR51","doi-asserted-by":"crossref","first-page":"1546","DOI":"10.1002\/ajmg.a.38220","volume":"173","author":"FK Boardman","year":"2017","unstructured":"Boardman FK, Young PJ, Griffiths FE. Newborn screening for spinal muscular atrophy: the views of affected families and adults. Am J Med Genet A. 2017;173:1546\u201361.","journal-title":"Am J Med Genet A"},{"key":"415_CR52","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/mgg3.353","volume":"6","author":"FK Boardman","year":"2018","unstructured":"Boardman FK, Sadler C, Young PJ. Newborn genetic screening for spinal muscular atrophy in the UK: the views of the general population. Mol Genet Genomic Med. 2018;6:99\u2013108.","journal-title":"Mol Genet Genomic Med"},{"key":"415_CR53","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1053\/j.semperi.2015.03.006","volume":"39","author":"HC Phan","year":"2015","unstructured":"Phan HC, Taylor JL, Hannon H, Howell R. Newborn screening for spinal muscular atrophy: anticipating an imminent need. Semin Perinatol. 2015;39:217\u201329.","journal-title":"Semin Perinatol"},{"key":"415_CR54","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1093\/hmg\/ddn357","volume":"18","author":"J Hauke","year":"2009","unstructured":"Hauke J, Riessland M, Lunke S, Ey\u00fcpoglu IY, Bl\u00fcmcke I, El-Osta A, et al. Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet. 2009;18:304\u201317.","journal-title":"Hum Mol Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s41431-019-0415-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41431-019-0415-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41431-019-0415-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T20:59:52Z","timestamp":1684616392000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41431-019-0415-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,3]]},"references-count":54,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["415"],"URL":"https:\/\/doi.org\/10.1038\/s41431-019-0415-4","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,3]]},"assertion":[{"value":"13 August 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 March 2019","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 March 2019","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 May 2019","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"E.F.T. has received grant support to conduct clinical trials on SMA from Ionis\/Biogen and serves as a consultant to Biogen, AveXis, Roche, Biologix, and Cytokinetics. The other author declares that she has no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}