{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:42:24Z","timestamp":1790516544738,"version":"4.1.0"},"reference-count":53,"publisher":"Informa UK Limited","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["DNND"],"DOI":"10.2147\/dnnd.s246907","type":"journal-article","created":{"date-parts":[[2020,12,14]],"date-time":"2020-12-14T19:21:04Z","timestamp":1607973664000},"page":"39-47","source":"Crossref","is-referenced-by-count":13,"title":["&lt;p&gt;Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy&lt;\/p&gt;"],"prefix":"10.2147","volume":"Volume 10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2820-9362","authenticated-orcid":true,"given":"Maria","family":"J\u0119drzejowska","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"301","published-online":{"date-parts":[[2020,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/ejhg.2011.134","volume":"20","author":"Sugarman","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"1465","DOI":"10.1007\/s00415-017-8549-1","volume":"264","author":"Verhaart","year":"2017","journal-title":"J Neurol"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1002\/ana.24864","volume":"81","author":"Farrar","year":"2017","journal-title":"Ann Neurol"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1146\/annurev-genom-102319-103602","volume":"21","author":"Wirth","year":"2020","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1016\/j.nmd.2014.04.003","volume":"24","author":"J\u0119drzejowska","year":"2014","journal-title":"Neuromuscul Disord"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/978-3-319-89689-2_2","volume":"20","author":"Singh","year":"2018","journal-title":"Adv Neurobiol"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","volume":"28","author":"Calucho","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"640","DOI":"10.1136\/jmg.2010.079004","volume":"47","author":"Bernal","year":"2010","journal-title":"J Med Genet"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1083\/jcb.201207087","volume":"199","author":"Rigo","year":"2012","journal-title":"J Cell Biol"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","volume":"377","author":"Finkel","year":"2017","journal-title":"N Engl J Med"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"890","DOI":"10.1212\/WNL.0000000000002445","volume":"86","author":"Chiriboga","year":"2016","journal-title":"Neurology"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"e2492","DOI":"10.1212\/WNL.0000000000007527","volume":"92","author":"Darras","year":"2019","journal-title":"Neurology"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1111\/dmcn.14412","volume":"62","author":"Aragon-Gawi\u0144ska","year":"2020","journal-title":"Dev Med Child Neurol"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"135","DOI":"10.3233\/JND-180315","volume":"5","author":"Pechmann","year":"2018","journal-title":"J Neuromuscul Dis"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1016\/j.nmd.2018.05.010","volume":"28","author":"Pane","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1038\/s41467-017-01559-4","volume":"8","author":"Sivaramakrishnan","year":"2017","journal-title":"Nature Commun"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"6307","DOI":"10.1007\/s12035-017-0831-9","volume":"55","author":"Govoni","year":"2018","journal-title":"Mol Neurobiol"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"842","DOI":"10.1016\/j.nmd.2019.09.007","volume":"29","author":"De Vivo","year":"2019","journal-title":"Neuromuscul Disord"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"1153","DOI":"10.2147\/TCRM.S172291","volume":"15","author":"Dangouloff","year":"2019","journal-title":"Ther Clin Risk Manag"},{"key":"ref22","doi-asserted-by":"crossref","unstructured":"Castro D, Finkel RS, Farrar MA, et al. Nusinersen in infantile-onset spinal muscular atrophy: results from longer-term treatment from the open-label SHINE extension study. Presented at: American Academy of Neurology (AAN) Annual Meeting; April 25\u2013May 1; 2020; Toronto, Canada.","DOI":"10.1212\/WNL.94.15_supplement.1640"},{"key":"ref23","doi-asserted-by":"crossref","unstructured":"Finkel R, Castro D, Farrar MA, et al. Interim report on the safety and efficacy of longer-term treatment with nusinersen in infantile-onset spinal muscular atrophy (SMA): updated results from the SHINE Study. Presented at: American Academy of Neurology, May 4\u201310; 2019; Philadelphia, USA","DOI":"10.1212\/WNL.92.15_supplement.S25.004"},{"key":"ref24","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1136\/jnnp-2017-317412","volume":"89","author":"Farrar","year":"2018","journal-title":"J Neurol Neurosurg Psych"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1056\/NEJMoa1710504","volume":"378","author":"Mercuri","year":"2018","journal-title":"N Engl J Med"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1002\/ppul.24203","volume":"54","author":"Al-Zaidy","year":"2019","journal-title":"Pediatr Pulmonol"},{"key":"ref27","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.pediatrneurol.2019.05.005","volume":"98","author":"Lowes","year":"2019","journal-title":"Pediatr Neurol"},{"key":"ref28","doi-asserted-by":"publisher","first-page":"e20200729","DOI":"10.1542\/peds.2020-0729","volume":"146","author":"Waldrop","year":"2020","journal-title":"Pediatrics"},{"key":"ref29","unstructured":"Mercuri E Treat: the advent of gene therapy for SMA. Presented at: 25th International Annual Congress of the World Muscle Society; September 28\u2013October 2; 2020."},{"key":"ref30","unstructured":"Mercuri E, Baranello G, Servais L, et al. Onasemnogene abeparvovec gene therapy for spinal muscular atrophy: phase III study update (STR1VE-EU). Poster presented at: 25th International Annual Congress of the World Muscle Society; September 28\u2013 October 2; 2020."},{"key":"ref31","unstructured":"Strauss KA, Farrar MA, Swoboda KJ, et al. Onasemnogene abeparvovec in presymptomatic spinal muscular atrophy: SPR1NT study update. Poster presented at: 25th International Annual Congress of the World Muscle Society; September 28\u2013 October 2; 2020."},{"key":"ref32","doi-asserted-by":"crossref","unstructured":"Servais L, Baranello G, Masson R, et al. FIREFISH part 2: efficacy and safety of risdiplam (RG7916) in infants with Type 1 spinal muscular atrophy (SMA). Presented at: Virtual SMA Conference Cure SMA; June 8\u201312; 2020.","DOI":"10.1183\/13993003.congress-2020.1172"},{"key":"ref33","doi-asserted-by":"crossref","unstructured":"Baranello G, Bloespflug-Tanguy O, Darras BT, et al. FIREFISH part 1: 24-month safety and exploratory outcomes of risdiplam (RG7916) in infants with Type 1 spinal muscular atrophy (SMA). Poster presented at: 25th International Annual Congress of the World Muscle Society; September 28\u2013 October 2; 2020.","DOI":"10.1183\/13993003.congress-2020.1172"},{"key":"ref34","doi-asserted-by":"crossref","unstructured":"Mercuri E, Barisic N, Boespflug-Tanguy O, et al. SUNFISH part 2: efficacy and safety of risdiplam (RG7916) in patients with Type 2 or non-ambulant Type 3 spinal muscular atrophy (SMA). Presented at: the 2nd International Scientific Congress SMA Europe; February 5\u20137; France: Evry; 2020.","DOI":"10.1212\/WNL.94.15_supplement.1260"},{"key":"ref35","unstructured":"Wilson JM, Junger G. Principles and practice of screening for disease. Genewa: WHO; 1968"},{"key":"ref36","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/j.nmd.2019.11.002","volume":"30","author":"Dangouloff","year":"2020","journal-title":"Neuromuscul Disord"},{"key":"ref37","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1016\/j.cll.2020.05.005","volume":"40","author":"Brandsema","year":"2020","journal-title":"Clin Lab Med"},{"key":"ref38","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1038\/s41431-019-0476-4","volume":"28","author":"Czibere","year":"2020","journal-title":"Eur J Hum Genet"},{"key":"ref39","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1373\/clinchem.2014.231019","volume":"61","author":"Taylor","year":"2015","journal-title":"Clin Chem"},{"key":"ref40","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1016\/j.jpeds.2017.06.042","volume":"190","author":"Chien","year":"2017","journal-title":"J Pediatr"},{"key":"ref41","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1038\/gim.2017.152","volume":"20","author":"Kraszewski","year":"2018","journal-title":"Genet Med"},{"key":"ref42","first-page":"461","volume":"74","author":"Boemer","year":"2019","journal-title":"Rev Med Liege"},{"key":"ref43","doi-asserted-by":"publisher","first-page":"503","DOI":"10.3233\/JND-190428","volume":"6","author":"Vill","year":"2019","journal-title":"J Neuromuscul Dis"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"109","DOI":"10.3233\/JND-200475","volume":"7","author":"M\u00fcller-Felber","year":"2020","journal-title":"J Neuromuscul Dis"},{"key":"ref45","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1038\/s41436-019-0673-0","volume":"22","author":"Kariyawasam","year":"2020","journal-title":"Genet Med"},{"key":"ref46","unstructured":"European Alliance for Newborn Screening in Spinal Muscular Atrophy;\u00a0Available from: https:\/\/www.sma-europe.eu\/opening-a-new-horizon-for-children-born-with-sma\/"},{"key":"ref47","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2020.07.001","volume":"9","author":"Kirschner","year":"2020","journal-title":"Eur J Paediatr Neurol"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1038\/ejhg.2008.41","volume":"16","author":"J\u0119drzejowska","year":"2008","journal-title":"Eur J Hum Genet"},{"key":"ref49","doi-asserted-by":"publisher","first-page":"145","DOI":"10.3233\/JND-180304","volume":"5","author":"Glascock","year":"2018","journal-title":"J Neuromuscul Dis"},{"key":"ref50","doi-asserted-by":"publisher","first-page":"97","DOI":"10.3233\/JND-190468","volume":"7","author":"Glascock","year":"2020","journal-title":"J Neuromuscul Dis"},{"key":"ref51","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1002\/pd.5611","volume":"40","author":"Delatycki","year":"2020","journal-title":"Prenat Diagn"},{"key":"ref52","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1186\/s13584-019-0345-1","volume":"8","author":"Zlotogora","year":"2019","journal-title":"Isr J Health Policy Res"},{"key":"ref53","doi-asserted-by":"publisher","first-page":"1774","DOI":"10.1038\/s41431-019-0415-4","volume":"27","author":"Serra-Juhe","year":"2019","journal-title":"Eur J Hum Genet"}],"container-title":["Degenerative Neurological and Neuromuscular Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.dovepress.com\/getfile.php?fileID=64806","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.dovepress.com\/getfile.php?fileID=64806","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,19]],"date-time":"2024-08-19T03:32:23Z","timestamp":1724038343000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.dovepress.com\/advances-in-newborn-screening-and-presymptomatic-diagnosis-of-spinal-m-peer-reviewed-article-DNND"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":53,"URL":"https:\/\/doi.org\/10.2147\/dnnd.s246907","relation":{},"ISSN":["1179-9900"],"issn-type":[{"value":"1179-9900","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12]]}}}