{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T00:23:25Z","timestamp":1792887805505,"version":"4.5.0"},"reference-count":27,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T00:00:00Z","timestamp":1754352000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["24K10961"],"award-info":[{"award-number":["24K10961"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP20ek0109472"],"award-info":[{"award-number":["JP20ek0109472"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["22ek0109472h0003"],"award-info":[{"award-number":["22ek0109472h0003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["21ek0109472h0002"],"award-info":[{"award-number":["21ek0109472h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["brainanddevelopment.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2025,10]]},"DOI":"10.1016\/j.braindev.2025.104410","type":"journal-article","created":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T05:50:44Z","timestamp":1754891444000},"page":"104410","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment"],"prefix":"10.1016","volume":"47","author":[{"given":"Tamaki","family":"Kato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Otsuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mamoru","family":"Yokomura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoko","family":"Shima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kota","family":"Kajima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moeka","family":"Shioya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayato","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidetaka","family":"Wakabayshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayoko","family":"Saito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2025.104410_bb0005","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/0022-510X(78)90242-3","article-title":"A clinical study of chronic childhood spinal muscular atrophy: a review of 141 cases","volume":"38","author":"Pearn","year":"1978","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.braindev.2025.104410_bb0010","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/j.braindev.2017.04.018","article-title":"Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients","volume":"39","author":"Kaneko","year":"2017","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2025.104410_bb0015","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"ENDEAR study group. Nusinersen versus sham control in infantile-onset spinal muscular atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N Engl J Med"},{"key":"10.1016\/j.braindev.2025.104410_bb0020","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-dose gene-replacement therapy for spinal muscular atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N Engl J Med"},{"key":"10.1016\/j.braindev.2025.104410_bb0025","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/S1474-4422(21)00367-7","article-title":"Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial","volume":"21","author":"Mercuri","year":"2022","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.braindev.2025.104410_bb0030","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1038\/s41591-022-01866-4","article-title":"Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the phase III SPR1NT trial","volume":"28","author":"Strauss","year":"2022","journal-title":"Nat Med"},{"key":"10.1016\/j.braindev.2025.104410_bb0035","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1038\/s41591-022-01867-3","article-title":"Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the phase III SPR1NT trial","volume":"28","author":"Strauss","year":"2022","journal-title":"Nat Med"},{"key":"10.1016\/j.braindev.2025.104410_bb0040","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1007\/s12035-017-0831-9","article-title":"Time is motor neuron: therapeutic window and its correlation with pathogenetic mechanisms in spinal muscular atrophy","volume":"55","author":"Govoni","year":"2018","journal-title":"Mol Neurobiol"},{"key":"10.1016\/j.braindev.2025.104410_bb0045","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1212\/WNL.94.15_supplement.993","article-title":"Nusinersen in infants who initiate treatment in a presymptomatic stage of spinal muscular atrophy (SMA): interim results from the phase 2 NURTURE study","volume":"94","author":"Finkel","year":"2020","journal-title":"Neurol"},{"key":"10.1016\/j.braindev.2025.104410_bb0050","doi-asserted-by":"crossref","first-page":"16","DOI":"10.3390\/ijns3030016","article-title":"Newborn screening for severe combined immunodeficiency in Taiwan","volume":"3","author":"Chien","year":"2017","journal-title":"Intl J Neonatal Screen"},{"key":"10.1016\/j.braindev.2025.104410_bb0055","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1038\/gim.2017.152","article-title":"Pilot study of population-based newborn screening for spinal muscular atrophy in New York state","volume":"20","author":"Kraszewski","year":"2018","journal-title":"Genet Med"},{"key":"10.1016\/j.braindev.2025.104410_bb0060","doi-asserted-by":"crossref","first-page":"503","DOI":"10.3233\/JND-190428","article-title":"One year of newborn screening for SMA\u2013results of a German pilot project","volume":"6","author":"Vill","year":"2019","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.braindev.2025.104410_bb0065","doi-asserted-by":"crossref","first-page":"898","DOI":"10.3389\/fneur.2019.00898","article-title":"Biomarkers and the development of a personalized medicine approach in spinal muscular atrophy","volume":"10","author":"Kariyawasam","year":"2019","journal-title":"Front Neurol"},{"key":"10.1016\/j.braindev.2025.104410_bb0070","doi-asserted-by":"crossref","first-page":"75","DOI":"10.3390\/jpm10030075","article-title":"The identification of novel biomarkers is required to improve adult SMA patient stratification, diagnosis and treatment","volume":"10","author":"Smeriglio","year":"2020","journal-title":"J Pers Med"},{"key":"10.1016\/j.braindev.2025.104410_bb0075","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0201764","article-title":"A new biomarker candidate for spinal muscular atrophy: identification of a peripheral blood cell population capable of monitoring the level of survival motor neuron protein","volume":"13","author":"Otsuki","year":"2018","journal-title":"PLoS One"},{"key":"10.1016\/j.braindev.2025.104410_bb0080","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-025-03597-4","article-title":"Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development","volume":"20","author":"Otsuki","year":"2025","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.braindev.2025.104410_bb0085","doi-asserted-by":"crossref","DOI":"10.1177\/11772719211035643","article-title":"Update on biomarkers in spinal muscular atrophy","volume":"16","author":"Pino","year":"2021","journal-title":"Biomark Insights"},{"key":"10.1016\/j.braindev.2025.104410_bb0090","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1002\/cpt.2384","article-title":"Model-based drug-drug interaction extrapolation strategy from adults to children: risdiplam in pediatric patients with spinal muscular atrophy","volume":"110","author":"Cleary","year":"2021","journal-title":"Clin Pharmacol Ther"},{"key":"10.1016\/j.braindev.2025.104410_bb0095","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1007\/s40262-023-01241-7","article-title":"Estimation of FMO3 ontogeny by mechanistic population pharmacokinetic modelling of risdiplam and its impact on drug\u2013drug interactions in children","volume":"62","author":"Cleary","year":"2023","journal-title":"Clin Pharmacokinet"},{"key":"10.1016\/j.braindev.2025.104410_bb0100","doi-asserted-by":"crossref","DOI":"10.1002\/prp2.447","article-title":"Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs","volume":"6","author":"Poirier","year":"2018","journal-title":"Pharmacol Res Perspect"},{"key":"10.1016\/j.braindev.2025.104410_bb0105","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1002\/ana.20473","article-title":"Natural history of denervation in SMA: relation to age, SMN2 copy number, and function","volume":"57","author":"Swoboda","year":"2005","journal-title":"Ann Neurol"},{"key":"10.1016\/j.braindev.2025.104410_bb0110","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1038\/s41436-020-00987-w","article-title":"CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening","volume":"23","author":"Weng","year":"2021","journal-title":"Genet Med"},{"key":"10.1016\/j.braindev.2025.104410_bb0115","doi-asserted-by":"crossref","first-page":"307","DOI":"10.3233\/JND-190403","article-title":"AVXS-101 (Onasemnogene Abeparvovec) for SMA1: comparative study with a prospective natural history cohort","volume":"6","author":"Al-Zaidy","year":"2019","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.braindev.2025.104410_bb0120","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.pediatrneurol.2020.01.003","article-title":"Overturning the paradigm of spinal muscular atrophy as just a motor neuron disease","volume":"109","author":"Yeo","year":"2020","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.braindev.2025.104410_bb0125","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1002\/acn3.51340","article-title":"Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment","volume":"8","author":"Freigang","year":"2021","journal-title":"Ann Clin Transl Neurol"},{"key":"10.1016\/j.braindev.2025.104410_bb0130","first-page":"e921","article-title":"Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy","volume":"94","author":"Alves","year":"2020","journal-title":"Neurol"},{"key":"10.1016\/j.braindev.2025.104410_bb0135","doi-asserted-by":"crossref","first-page":"6458","DOI":"10.1093\/hmg\/ddu366","article-title":"Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients","volume":"23","author":"Hathout","year":"2014","journal-title":"Hum Mol Genet"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760425000920?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760425000920?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,29]],"date-time":"2025-11-29T08:02:12Z","timestamp":1764403332000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760425000920"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["S0387760425000920"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2025.104410","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2025,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2025.104410","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Japanese Society of Child Neurology. Elsevier B.V. CC BY 4.0","name":"copyright","label":"Copyright"}],"article-number":"104410"}}