{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T17:55:52Z","timestamp":1791482152167,"version":"4.3.4"},"reference-count":100,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2023,7,29]],"date-time":"2023-07-29T00:00:00Z","timestamp":1690588800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2023,11,7]]},"abstract":"<jats:p>\u00a0Duchenne muscular dystrophy is a severe, X-linked disease characterized by decreased muscle mass and function in children. Genetic and biochemical research over the years has led to the characterization of the cause and the pathophysiology of the disease. Moreover, the elucidation of genetic mechanisms underlining Duchenne muscular dystrophy has allowed for the design of innovative personalized therapies.<\/jats:p>\n                  <jats:p>The identification of specific, accurate, and sensitive biomarkers is becoming crucial for evaluating muscle disease progression and response to therapies, disease monitoring, and the acceleration of drug development and related regulatory processes.<\/jats:p>\n                  <jats:p>This review illustrated the up-to-date progress in the development of candidate biomarkers in DMD at the level of proteins, metabolites, micro-RNAs (miRNAs) and genetic modifiers also highlighting the complexity of translating research results to clinical practice.<\/jats:p>\n                  <jats:p>We highlighted the challenges encountered in translating biomarkers into the clinical context and the existing bottlenecks hampering the adoption of biomarkers as surrogate endpoints. These challenges could be overcome by national and international collaborative efforts, multicenter data sharing, definition of public biobanks and patients\u2019 registries, and creation of large cohorts of patients. Novel statistical tools\/ models suitable to analyze small patient numbers are also required.<\/jats:p>\n                  <jats:p>Finally, collaborations with pharmaceutical companies would greatly benefit biomarker discovery and their translation in clinical trials.<\/jats:p>","DOI":"10.3233\/jnd-221666","type":"journal-article","created":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T11:07:03Z","timestamp":1690888023000},"page":"987-1002","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":23,"title":["Biomarkers in Duchenne Muscular Dystrophy: Current Status and Future Directions"],"prefix":"10.1177","volume":"10","author":[{"given":"Fernanda","family":"Fortunato","sequence":"first","affiliation":[{"name":"Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Ferlini","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2023,7,29]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1016\/s1474-4422(03)00585-4"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000126574.61061.25"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.06.009"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24191"},{"key":"ref005","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00131"},{"key":"ref006","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.12868"},{"key":"ref007","doi-asserted-by":"publisher","DOI":"10.3390\/jcdd4030014"},{"key":"ref008","doi-asserted-by":"publisher","DOI":"10.1016\/j.neubiorev.2015.01.023"},{"key":"ref009","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2019.01.014"},{"key":"ref010","doi-asserted-by":"publisher","DOI":"10.1016\/S2352-4642(18)30140-8"},{"key":"ref011","doi-asserted-by":"publisher","DOI":"10.1016\/j.coph.2017.04.002"},{"key":"ref012","doi-asserted-by":"publisher","DOI":"10.2147\/DNND.S121099"},{"key":"ref013","doi-asserted-by":"publisher","DOI":"10.1067\/mc2001.113989"},{"key":"ref014","unstructured":"FDA-NIH Biomarker Working Group. BEST (Biomarkers, EndpointS, and other Tools) Resource [homepage on the Internet]. Silver Spring (MD): Food and Drug Administration (US); Bethesda (MD): National Institutes of Health (US) [Cited on 15 December 2022]. Available from:www.ncbi.nlm.nih.gov\/books\/NBK326791\/."},{"key":"ref015","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24370"},{"key":"ref016","doi-asserted-by":"publisher","DOI":"10.1080\/14789450.2020.1773806"},{"issue":"1","key":"ref017","first-page":"125","volume":"23","author":"Hashim R","year":"2011","journal-title":"J Ayub Med Coll Abbottabad"},{"key":"ref018","doi-asserted-by":"publisher","DOI":"10.1253\/jcj.51.1379"},{"key":"ref019","doi-asserted-by":"publisher","DOI":"10.1007\/s12028-012-9707-z"},{"key":"ref020","first-page":"52","volume":"116","author":"Takagi Y","year":"2001","journal-title":"Rinsho Byori"},{"key":"ref021","doi-asserted-by":"publisher","DOI":"10.1136\/adc.54.5.362"},{"key":"ref022","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23528"},{"key":"ref023","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.301"},{"key":"ref024","doi-asserted-by":"publisher","DOI":"10.3390\/ijns5030027"},{"key":"ref025","doi-asserted-by":"publisher","DOI":"10.1007\/s12519-017-0036-3"},{"key":"ref026","doi-asserted-by":"publisher","DOI":"10.3390\/ijns8010012"},{"key":"ref027","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.03.006"},{"key":"ref028","doi-asserted-by":"publisher","DOI":"10.1002\/jcsm.12304"},{"key":"ref029","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-48548-9"},{"key":"ref030","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2007.01.009"},{"key":"ref031","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-017-1703-9"},{"key":"ref032","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.05.011"},{"key":"ref033","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-17982-y"},{"key":"ref034","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardfail.2019.02.006"},{"key":"ref035","doi-asserted-by":"publisher","DOI":"10.1002\/elps.1150100707"},{"key":"ref036","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.09.004"},{"key":"ref037","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201303724"},{"key":"ref038","doi-asserted-by":"publisher","DOI":"10.1002\/jcsm.12517"},{"key":"ref039","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21420"},{"key":"ref040","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.07.010"},{"key":"ref041","doi-asserted-by":"publisher","DOI":"10.1007\/s40620-021-01122-x"},{"key":"ref042","doi-asserted-by":"publisher","DOI":"10.1177\/0192623317738927"},{"key":"ref043","doi-asserted-by":"publisher","DOI":"10.2217\/bmm-2021-0222"},{"key":"ref044","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.03.012"},{"key":"ref045","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.05.009"},{"key":"ref046","doi-asserted-by":"publisher","DOI":"10.1039\/c9mo00182d"},{"key":"ref047","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-021-02623-1"},{"key":"ref048","doi-asserted-by":"publisher","DOI":"10.4081\/ejtm.2021.9627"},{"key":"ref049","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejcb.2019.151059"},{"key":"ref050","doi-asserted-by":"publisher","DOI":"10.1016\/j.jprot.2016.03.011"},{"key":"ref051","doi-asserted-by":"publisher","DOI":"10.1186\/s12014-015-9099-0"},{"key":"ref052","doi-asserted-by":"publisher","DOI":"10.1186\/s12014-018-9212-2"},{"key":"ref053","doi-asserted-by":"publisher","DOI":"10.1080\/14789450.2020.1732214"},{"key":"ref054","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.03.008"},{"key":"ref055","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1507719112"},{"key":"ref056","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2020.09.003"},{"key":"ref057","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27760"},{"key":"ref058","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00035.2018"},{"key":"ref059","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0153461"},{"key":"ref060","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.13543"},{"key":"ref061","doi-asserted-by":"publisher","DOI":"10.3390\/metabo8040061"},{"key":"ref062","doi-asserted-by":"publisher","DOI":"10.1002\/nbm.4075"},{"key":"ref063","doi-asserted-by":"publisher","DOI":"10.1016\/j.mri.2012.04.003"},{"key":"ref064","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2015.07.016"},{"key":"ref065","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(79)90205-1"},{"key":"ref066","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2013.03.031"},{"key":"ref067","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz309"},{"key":"ref068","doi-asserted-by":"publisher","DOI":"10.1126\/science.1065329"},{"key":"ref069","doi-asserted-by":"publisher","DOI":"10.1016\/s0092-8674(04)00045-5"},{"key":"ref070","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-018-1204-1"},{"key":"ref071","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz142"},{"key":"ref072","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0708115104"},{"key":"ref073","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2011.03.004"},{"key":"ref074","doi-asserted-by":"publisher","DOI":"10.1002\/emmm.201100133"},{"key":"ref075","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.11.003"},{"key":"ref076","doi-asserted-by":"publisher","DOI":"10.1186\/s12968-016-0244-3"},{"key":"ref077","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2018.01770"},{"key":"ref078","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0080263"},{"key":"ref079","doi-asserted-by":"publisher","DOI":"10.2217\/epi-2018-0022"},{"key":"ref080","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20184638"},{"key":"ref081","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2014.05.002"},{"key":"ref082","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000240"},{"key":"ref083","doi-asserted-by":"publisher","DOI":"10.3390\/jcm8050649"},{"key":"ref084","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2008.03.020"},{"key":"ref085","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318207afeb"},{"key":"ref086","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-308409"},{"key":"ref087","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx218"},{"key":"ref088","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23819"},{"key":"ref089","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.023"},{"key":"ref090","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14143"},{"key":"ref091","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25283"},{"key":"ref092","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00605"},{"key":"ref093","doi-asserted-by":"publisher","DOI":"10.1177\/1535370217750088"},{"key":"ref094","doi-asserted-by":"publisher","DOI":"10.1186\/s12014-023-09412-1"},{"key":"ref095","unstructured":"EuroBioBank [homepage on the Internet].http:\/\/www.eurobiobank.org\/ [Cited on 15 December 2022]."},{"key":"ref096","unstructured":"RD-Connect [homepage on the Internet]. https:\/\/rd-connect.eu\/ [Cited on 15 December 2022]."},{"key":"ref097","unstructured":"Orphanet [homepage on the Internet]. https:\/\/www.orpha.net\/consor\/cgi-bin\/index.php?lng=EN [Cited on 15 December 2022]."},{"key":"ref098","unstructured":"European Joint Programme Rare Diseases [homepage on the Internet]. https:\/\/www.ejprarediseases.org\/https:\/\/www.ejprarediseases.org\/ [Cited on 115 December 2022]."},{"key":"ref099","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2020.598964"},{"key":"ref100","unstructured":"Guideline on the clinical investigation of medicinal products for the treatment of Duchenne and Becker \nmuscular dystrophy [homepage on the Internet].https:\/\/www.ema.europa.eu\/en\/documents\/scientific-guideline\/guideline-clinical-investigation-medicinal-products-treatment-duchenne-becker-muscular-dystrophy en.pdf [Cited on 15 December 2022]."}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-221666","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.3233\/JND-221666","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-221666","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:52:30Z","timestamp":1777506750000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.3233\/JND-221666"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,29]]},"references-count":100,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,11,7]]}},"alternative-id":["10.3233\/JND-221666"],"URL":"https:\/\/doi.org\/10.3233\/jnd-221666","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,29]]}}}