{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T13:57:08Z","timestamp":1781618228824,"version":"3.54.5"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2021,3,10]],"date-time":"2021-03-10T00:00:00Z","timestamp":1615334400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,3,10]],"date-time":"2021-03-10T00:00:00Z","timestamp":1615334400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007423","name":"Duchenne Parent Project NL","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100007423","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Association Francaise contra les myopathies","award":["19118"],"award-info":[{"award-number":["19118"]}]},{"name":"Spieren voor Spieren","award":["Svs15"],"award-info":[{"award-number":["Svs15"]}]},{"name":"European Commission \u2010 Neuromics","award":["305121"],"award-info":[{"award-number":["305121"]}]},{"name":"European Commission \u2010 RD Connect","award":["305444"],"award-info":[{"award-number":["305444"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["EMBO Mol Med"],"published-print":{"date-parts":[[2021,4,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>DMD is a rare disorder characterized by progressive muscle degeneration and premature death. Therapy development is delayed by difficulties to monitor efficacy non\u2010invasively in clinical trials. In this study, we used RNA\u2010sequencing to describe the pathophysiological changes in skeletal muscle of 3 dystrophic mouse models. We show how dystrophic changes in muscle are reflected in blood by analyzing paired muscle and blood samples. Analysis of repeated blood measurements followed the dystrophic signature at five equally spaced time points over a period of seven months. Treatment with two antisense drugs harboring different levels of dystrophin recovery identified genes associated with safety and efficacy. Evaluation of the blood gene expression in a cohort of DMD patients enabled the comparison between preclinical models and patients, and the identification of genes associated with physical performance, treatment with corticosteroids and body measures. The presented results provide evidence that blood RNA\u2010sequencing can serve as a tool to evaluate disease progression in dystrophic mice and patients, as well as to monitor response to (dystrophin\u2010restoring) therapies in preclinical drug development and in clinical trials.<\/jats:p>","DOI":"10.15252\/emmm.202013328","type":"journal-article","created":{"date-parts":[[2021,3,10]],"date-time":"2021-03-10T03:42:04Z","timestamp":1615347724000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients"],"prefix":"10.1038","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8102-3356","authenticated-orcid":false,"given":"Mirko","family":"Signorelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitra","family":"Ebrahimpoor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Veth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4182-7560","authenticated-orcid":false,"given":"Kristina","family":"Hettne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nisha","family":"Verwey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Garc\u00eda\u2010Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christa L","family":"Tanganyika\u2010deWinter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luz B","family":"Lopez Hernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Escobar Cedillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjam\u00edn","family":"G\u00f3mez D\u00edaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olafur T","family":"Magnusson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hailiang","family":"Mei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roula","family":"Tsonaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemieke","family":"Aartsma\u2010Rus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2783-688X","authenticated-orcid":false,"given":"Pietro","family":"Spitali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,3,10]]},"reference":[{"key":"BFEMMM202013328_CR1","first-page":"1","volume":"8","author":"C Al\u2010Khalili Szigyarto","year":"2018","unstructured":"Al\u2010Khalili Szigyarto C, Spitali P (2018) Biomarkers of Duchenne muscular dystrophy: current findings. Degener Neurol Neuromuscul Dis 8: 1\u201313","journal-title":"Degener Neurol Neuromuscul Dis"},{"key":"BFEMMM202013328_CR2","doi-asserted-by":"crossref","first-page":"918","DOI":"10.15252\/emmm.201303724","volume":"6","author":"B Ayoglu","year":"2014","unstructured":"Ayoglu B, Chaouch A, Lochm\u00fcller H, Politano L, Bertini E, Spitali P, Hiller M, Niks EH, Gualandi F, Pont\u00e9n F et al (2014) Affinity proteomics within rare diseases: a BIO\u2010NMD study for blood biomarkers of muscular dystrophies. EMBO Mol Med 6: 918\u2013936","journal-title":"EMBO Mol Med"},{"issue":"Suppl 1","key":"BFEMMM202013328_CR3","doi-asserted-by":"crossref","first-page":"S125","DOI":"10.1016\/S0960-8966(02)00093-7","volume":"12","author":"M Bakay","year":"2002","unstructured":"Bakay M, Zhao P, Chen J, Hoffman EP (2002) A web\u2010accessible complete transcriptome of normal human and DMD muscle. Neuromuscul Disord 12(Suppl 1): S125\u2013S141","journal-title":"Neuromuscul Disord"},{"key":"BFEMMM202013328_CR4","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","volume":"57","author":"Y Benjamini","year":"1995","unstructured":"Benjamini Y, Hochberg Y (1995) Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing. J R Stat Soc Ser B 57: 289\u2013300","journal-title":"J R Stat Soc Ser B"},{"key":"BFEMMM202013328_CR5","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/S1474-4422(18)30025-5","volume":"17","author":"DJ Birnkrant","year":"2018","unstructured":"Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, Case LE, Cripe L, Hadjiyannakis S, Olson AK et al (2018a) Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol 17: 347\u2013361","journal-title":"Lancet Neurol"},{"key":"BFEMMM202013328_CR6","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/S1474-4422(18)30024-3","volume":"17","author":"DJ Birnkrant","year":"2018","unstructured":"Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S et al (2018b) Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol 17: 251\u2013267","journal-title":"Lancet Neurol"},{"key":"BFEMMM202013328_CR7","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1001\/jamaneurol.2020.1264","volume":"77","author":"PR Clemens","year":"2020","unstructured":"Clemens PR, Rao VK, Connolly AM, Harper AD, Mah JK, Smith EC, McDonald CM, Zaidman CM, Morgenroth LP, Osaki H et al (2020) Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping. JAMA Neurol 77: 982","journal-title":"JAMA Neurol"},{"key":"BFEMMM202013328_CR8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.omtn.2018.08.005","volume":"13","author":"AML Coenen\u2010Stass","year":"2018","unstructured":"Coenen\u2010Stass AML, Sork H, Gatto S, Godfrey C, Bhomra A, Krjut\u0161kov K, Hart JR, Westholm JO, O\u2019Donovan L, Roos A et al (2018) Comprehensive RNA\u2010Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMD. Mol Ther Nucleic Acids 13: 1\u201315","journal-title":"Mol Ther Nucleic Acids"},{"key":"BFEMMM202013328_CR9","unstructured":"Cutillo L, Signorelli M (2018) On community structure validation in real networks on community structure validation in real networks."},{"key":"BFEMMM202013328_CR10","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1080\/14737159.2019.1648214","volume":"19","author":"P Dowling","year":"2019","unstructured":"Dowling P, Murphy S, Zweyer M, Raucamp M, Swandulla D, Ohlendieck K (2019) Emerging proteomic biomarkers of X\u2010linked muscular dystrophy. Expert Rev Mol Diagn 19: 739\u2013755","journal-title":"Expert Rev Mol Diagn"},{"key":"BFEMMM202013328_CR11","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1111\/j.1582-4934.2006.tb00435.x","volume":"10","author":"R Fadic","year":"2006","unstructured":"Fadic R, Mezzano V, Alvarez K, Cabrera D, Holmgren J, Brandan E (2006) Increase in decorin and biglycan in Duchenne muscular dystrophy: Role of fibroblasts as cell source of these proteoglycans in the disease. J Cell Mol Med 10: 758\u2013769","journal-title":"J Cell Mol Med"},{"key":"BFEMMM202013328_CR12","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.nmd.2017.10.004","volume":"28","author":"N Goemans","year":"2018","unstructured":"Goemans N, Mercuri E, Belousova E, Komaki H, Dubrovsky A, McDonald CM, Kraus JE, Lourbakos A, Lin Z, Campion G et al (2018) A randomized placebo\u2010controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy. Neuromuscul Disord 28: 4\u201315","journal-title":"Neuromuscul Disord"},{"key":"BFEMMM202013328_CR13","volume":"5","author":"DW Hammers","year":"2019","unstructured":"Hammers DW, Hart CC, Patsalos A, Matheny MK, Wright LA, Nagy L, Sweeney HL (2019) Glucocorticoids counteract hypertrophic effects of myostatin inhibition in dystrophic muscle. JCI Insight 5: e133276","journal-title":"JCI Insight"},{"key":"BFEMMM202013328_CR14","doi-asserted-by":"crossref","first-page":"7153","DOI":"10.1073\/pnas.1507719112","volume":"112","author":"Y Hathout","year":"2015","unstructured":"Hathout Y, Brody E, Clemens PR, Cripe L, DeLisle RK, Furlong P, Gordish\u2010Dressman H, Hache L, Henricson E, Hoffman EP et al (2015) Large\u2010scale serum protein biomarker discovery in Duchenne muscular dystrophy. Proc Natl Acad Sci 112: 7153\u20137158","journal-title":"Proc Natl Acad Sci"},{"key":"BFEMMM202013328_CR15","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/jgm.1288","volume":"11","author":"HA Heemskerk","year":"2009","unstructured":"Heemskerk HA, de Winter CL, de Kimpe SJ, van Kuik\u2010Romeijn P, Heuvelmans N, Platenburg GJ, van Ommen G\u2010JB, van Deutekom JCT, Aartsma\u2010Rus A (2009) In vivo comparison of 2\u2032\u2010 O \u2010methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping. J Gene Med 11: 257\u2013266","journal-title":"J Gene Med"},{"key":"BFEMMM202013328_CR16","doi-asserted-by":"crossref","DOI":"10.26508\/lsa.201800186","volume":"2","author":"CR Heier","year":"2019","unstructured":"Heier CR, Yu Q, Fiorillo AA, Tully CB, Tucker A, Mazala DA, Uaesoontrachoon K, Srinivassane S, Damsker JM, Hoffman EP et al (2019) Vamorolone targets dual nuclear receptors to treat inflammation and dystrophic cardiomyopathy. Life Sci Alliance 2: e201800186","journal-title":"Life Sci Alliance"},{"key":"BFEMMM202013328_CR17","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/s00109-007-0284-0","volume":"86","author":"TPJ Hofer","year":"2008","unstructured":"Hofer TPJ, Frankenberger M, Mages J, Lang R, Hoffmann R, Colige A, Ziegler\u2010Heitbrock L (2008) Tissue\u2010specific induction of ADAMTS2 in monocytes and macrophages by glucocorticoids. J Mol Med 86: 323\u2013332","journal-title":"J Mol Med"},{"key":"BFEMMM202013328_CR18","doi-asserted-by":"crossref","first-page":"20105","DOI":"10.1074\/jbc.M115.655340","volume":"290","author":"C Huygens","year":"2015","unstructured":"Huygens C, Li\u00e9nart S, Dedobbeleer O, Stockis J, Gauthy E, Coulie PG, Lucas S (2015) Lysosomal\u2010associated transmembrane protein 4B (LAPTM4B) decreases transforming growth factor \u03b21 (TGF\u2010\u03b21) production in human regulatory T cells. J Biol Chem 290: 20105\u201320116","journal-title":"J Biol Chem"},{"key":"BFEMMM202013328_CR19","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.ymthe.2017.10.004","volume":"26","author":"SMG Jirka","year":"2018","unstructured":"Jirka SMG, t Hoen PAC, Diaz Parillas V, Tanganyika\u2010de Winter CL, Verheul RC, Aguilera B, de Visser PC, Aartsma\u2010Rus AM (2018) Cyclic peptides to improve delivery and exon skipping of antisense oligonucleotides in a mouse model for duchenne muscular dystrophy. Mol Ther 26: 132\u2013147","journal-title":"Mol Ther"},{"key":"BFEMMM202013328_CR20","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1186\/1471-2105-9-559","volume":"9","author":"P Langfelder","year":"2008","unstructured":"Langfelder P, Horvath S (2008) WGCNA: an R package for weighted correlation network analysis. BMC Bioinformatics 9: 559","journal-title":"BMC Bioinformatics"},{"key":"BFEMMM202013328_CR21","doi-asserted-by":"crossref","first-page":"R29","DOI":"10.1186\/gb-2014-15-2-r29","volume":"15","author":"CW Law","year":"2014","unstructured":"Law CW, Chen Y, Shi W, Smyth GK (2014) Voom: Precision weights unlock linear model analysis tools for RNA\u2010seq read counts. Genome Biol. 15: R29","journal-title":"Genome Biol."},{"key":"BFEMMM202013328_CR22","doi-asserted-by":"crossref","first-page":"387","DOI":"10.3233\/JND-150076","volume":"2","author":"DZ Liu","year":"2015","unstructured":"Liu DZ, Stamova B, Hu S, Ander BP, Jickling GC, Zhan X, Sharp FR, Wong B (2015) MicroRNA and mRNA expression changes in steroid na\u00efve and steroid treated DMD patients. J Neuromuscul Dis 2: 387\u2013396","journal-title":"J Neuromuscul Dis"},{"key":"BFEMMM202013328_CR23","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.molmet.2020.01.010","volume":"34","author":"KM McCabe","year":"2020","unstructured":"McCabe KM, Hsieh J, Thomas DG, Molusky MM, Tascau L, Feranil JB, Qiang L, Ferrante AW, Tall AR (2020) Antisense oligonucleotide treatment produces a type I interferon response that protects against diet\u2010induced obesity. Mol Metab 34: 146\u2013156","journal-title":"Mol Metab"},{"key":"BFEMMM202013328_CR24","volume-title":"Generalized, linear, and mixed models","author":"CE McCulloch","year":"2008","unstructured":"McCulloch CE, Searle SR, Neuhaus JM (2008) Generalized, linear, and mixed models, 2nd edn. New York, NY: Wiley","edition":"2nd edn"},{"key":"BFEMMM202013328_CR25","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1016\/S0140-6736(12)61897-2","volume":"381","author":"E Mercuri","year":"2013","unstructured":"Mercuri E, Muntoni F (2013) Muscular dystrophies. Lancet 381: 845\u2013860","journal-title":"Lancet"},{"key":"BFEMMM202013328_CR26","doi-asserted-by":"crossref","first-page":"D377","DOI":"10.1093\/nar\/gks1118","volume":"41","author":"H Mi","year":"2012","unstructured":"Mi H, Muruganujan A, Thomas PD (2012) PANTHER in 2013: modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees. Nucleic Acids Res 41: D377\u2013D386","journal-title":"Nucleic Acids Res"},{"key":"BFEMMM202013328_CR27","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/ncomms8250","volume":"6","author":"R Milkereit","year":"2015","unstructured":"Milkereit R, Persaud A, Vanoaica L, Guetg A, Verrey F, Rotin D (2015) LAPTM4b recruits the LAT1\u20104F2hc Leu transporter to lysosomes and promotes mTORC1 activation. Nature Communications 6: 1\u20134","journal-title":"Nature Communications"},{"key":"BFEMMM202013328_CR28","doi-asserted-by":"crossref","first-page":"104999","DOI":"10.1016\/j.phrs.2020.104999","volume":"159","author":"SC Previtali","year":"2020","unstructured":"Previtali SC, Gidaro T, D\u00edaz\u2010Manera J, Zambon A, Carnesecchi S, Roux\u2010Lombard P, Spitali P, Signorelli M, Szigyarto CA\u2010K, Johansson C et al (2020) Rimeporide as a first\u2010 in\u2010class NHE\u20101 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy. Pharmacol Res 159: 104999","journal-title":"Pharmacol Res"},{"key":"BFEMMM202013328_CR29","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.nmd.2011.10.011","volume":"22","author":"M van Putten","year":"2012","unstructured":"van Putten M, Kumar D, Hulsker M, Hoogaars WMH, Plomp JJ, van Opstal A, van Iterson M, Admiraal P, van Ommen GJB, \u2019t Hoen P et al (2012) Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strains. Neuromuscul Disord 22: 406\u2013417","journal-title":"Neuromuscul Disord"},{"key":"BFEMMM202013328_CR30","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/j.nmd.2017.05.009","volume":"27","author":"AS Robertson","year":"2017","unstructured":"Robertson AS, Majchrzak MJ, Smith CM, Gagnon RC, Devidze N, Banks GB, Little SC, Nabbie F, Bounous DI, DiPiero J et al (2017) Dramatic elevation in urinary amino terminal titin fragment excretion quantified by immunoassay in Duchenne muscular dystrophy patients and in dystrophin deficient rodents. Neuromuscul Disord 27: 635\u2013645","journal-title":"Neuromuscul Disord"},{"key":"BFEMMM202013328_CR31","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1093\/bioinformatics\/btp616","volume":"26","author":"MD Robinson","year":"2010","unstructured":"Robinson MD, McCarthy DJ, Smyth GK (2010) edgeR: a Bioconductor package for differential expression analysis of digital gene expression data. Bioinformatics 26: 139\u2013140","journal-title":"Bioinformatics"},{"key":"BFEMMM202013328_CR32","doi-asserted-by":"crossref","first-page":"R25","DOI":"10.1186\/gb-2010-11-3-r25","volume":"11","author":"MD Robinson","year":"2010","unstructured":"Robinson MD, Oshlack A (2010) A scaling normalization method for differential expression analysis of RNA\u2010seq data. Genome Biol 11: R25","journal-title":"Genome Biol"},{"key":"BFEMMM202013328_CR33","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/s12015-012-9380-9","volume":"9","author":"M Secco","year":"2013","unstructured":"Secco M, Bueno C, Vieira NM, Almeida C, Pelatti M, Zucconi E, Bartolini P, Vainzof M, Miyabara EH, Okamoto OK et al (2013) Systemic delivery of human mesenchymal stromal cells combined with IGF\u20101 enhances muscle functional recovery in LAMA2dy\/2j dystrophic mice. Stem Cell Rev Reports 9: 93\u2013109","journal-title":"Stem Cell Rev Reports"},{"key":"BFEMMM202013328_CR34","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1002\/jcsm.12517","volume":"11","author":"M Signorelli","year":"2020","unstructured":"Signorelli M, Ayoglu B, Johansson C, Lochm\u00fcller H, Straub V, Muntoni F, Niks E, Tsonaka R, Persson A, Aartsma\u2010Rus A et al (2020a) Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy. J Cachexia Sarcopenia Muscle 11: 505\u2013517","journal-title":"J Cachexia Sarcopenia Muscle"},{"key":"BFEMMM202013328_CR35","doi-asserted-by":"crossref","first-page":"17547","DOI":"10.1038\/s41598-020-74687-5","volume":"10","author":"M Signorelli","year":"2020","unstructured":"Signorelli M, Mason AG, Mul K, Evangelista T, Mei H, Voermans N, Tapscott SJ, Tsonaka R, van Engelen BGM, van der Maarel SM (2020b) Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients. Sci Rep 10: 17547","journal-title":"Sci Rep"},{"key":"BFEMMM202013328_CR36","doi-asserted-by":"crossref","unstructured":"Signorelli M, Spitali P, Al\u2010Khalili Szigyarto C, The MARK\u2010MD Consortium, Tsonaka R (2021) Penalized regression calibration: a method for the prediction of survival outcomes using complex longitudinal and high\u2010dimensional data. arXiv https:\/\/arxiv.org\/abs\/2101.04426 [PREPRINT]","DOI":"10.1002\/sim.9178"},{"key":"BFEMMM202013328_CR37","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1002\/jcsm.12304","volume":"9","author":"P Spitali","year":"2018","unstructured":"Spitali P, Hettne K, Tsonaka R, Charrout M, van den Bergen J, Koeks Z, Kan HE, Hooijmans MT, Roos A, Straub V et al (2018) Tracking disease progression non\u2010invasively in Duchenne and Becker muscular dystrophies. J Cachexia Sarcopenia Muscle 9: 715\u2013726","journal-title":"J Cachexia Sarcopenia Muscle"},{"key":"BFEMMM202013328_CR38","doi-asserted-by":"crossref","first-page":"231","DOI":"10.3233\/JND-190454","volume":"7","author":"K Strandberg","year":"2020","unstructured":"Strandberg K, Ayoglu B, Roos A, Reza M, Niks E, Signorelli M, Fasterius E, Pont\u00e9n F, Lochm\u00fcller H, Domingos J (2020) Blood\u2010derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy. J Neuromuscul Dis 7: 231\u2013246","journal-title":"J Neuromuscul Dis"},{"key":"BFEMMM202013328_CR39","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.cell.2014.12.006","volume":"160","author":"X Tan","year":"2015","unstructured":"Tan X, Thapa N, Sun Y, Anderson RA (2015) A kinase\u2010independent role for EGF receptor in autophagy initiation. Cell 160: 145\u2013160","journal-title":"Cell"},{"key":"BFEMMM202013328_CR40","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1089\/nat.2017.0705","volume":"28","author":"LJA Toonen","year":"2018","unstructured":"Toonen LJA, Casaca\u2010Carreira J, Pellis\u00e9\u2010Tintor\u00e9 M, Mei H, Temel Y, Jahanshahi A, Van Roon\u2010Mom WMC (2018a) Intracerebroventricular Administration of a 2\u2032\u2010O\u2010Methyl Phosphorothioate Antisense Oligonucleotide Results in Activation of the Innate Immune System in Mouse Brain. Nucleic Acid Ther 28: 63\u201373","journal-title":"Nucleic Acid Ther"},{"key":"BFEMMM202013328_CR41","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s13024-018-0261-9","volume":"13","author":"LJA Toonen","year":"2018","unstructured":"Toonen LJA, Overzier M, Evers MM, Leon LG, van der Zeeuw SAJ, Mei H, Kielbasa SM, Goeman JJ, Hettne KM, Magnusson OT et al (2018b) Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin\u20103 in a spinocerebellar ataxia type 3 mouse model. Mol Neurodegener 13: 31","journal-title":"Mol Neurodegener"},{"key":"BFEMMM202013328_CR42","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1093\/hmg\/ddz309","volume":"29","author":"R Tsonaka","year":"2020","unstructured":"Tsonaka R, Signorelli M, Sabir E, Seyer A, Hettne K, Aartsma\u2010Rus A, Spitali P (2020) Longitudinal metabolomic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models. Hum Mol Genet 29: 745\u2013755","journal-title":"Hum Mol Genet"},{"key":"BFEMMM202013328_CR43","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1096\/fj.05-4678fje","volume":"20","author":"R Turk","year":"2006","unstructured":"Turk R, Sterrenburg E, van der Wees CG, de Meijer EJ, de Menezes RX, Groh S, Campbell KP, Noguchi S, van Ommen GJ, den Dunnen JT et al (2006) Common pathological mechanisms in mouse models for muscular dystrophies. FASEB J 20: 127\u2013129","journal-title":"FASEB J"},{"key":"BFEMMM202013328_CR44","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1038\/s41582-019-0203-3","volume":"15","author":"IEC Verhaart","year":"2019","unstructured":"Verhaart IEC, Aartsma\u2010Rus A (2019) Therapeutic developments for Duchenne muscular dystrophy. Nat Rev Neurol 15: 373\u2013386","journal-title":"Nat Rev Neurol"},{"key":"BFEMMM202013328_CR45","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/j.nmd.2020.05.002","volume":"30","author":"KR Wagner","year":"2020","unstructured":"Wagner KR, Abdel\u2010Hamid HZ, Mah JK, Campbell C, Guglieri M, Muntoni F, Takeshima Y, McDonald CM, Kostera\u2010Pruszczyk A, Karachunski P et al (2020) Randomized phase 2 trial and open\u2010label extension of domagrozumab in Duchenne muscular dystrophy. Neuromuscul Disord 30: 492\u2013502","journal-title":"Neuromuscul Disord"},{"key":"BFEMMM202013328_CR46","unstructured":"WO2009054725A2. Means and methods for counteracting muscle disorders \u2013 Google Patents"},{"key":"BFEMMM202013328_CR47","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/s10048-008-0167-8","volume":"10","author":"B Wong","year":"2009","unstructured":"Wong B, Gilbert DL, Walker WL, Liao IH, Lit L, Stamova B, Jickling G, Apperson M, Sharp FR (2009) Gene expression in blood of subjects with Duchenne muscular dystrophy. Neurogenetics 10: 117\u2013125","journal-title":"Neurogenetics"}],"container-title":["EMBO Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.15252\/emmm.202013328.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.15252\/emmm.202013328","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.15252\/emmm.202013328\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.embopress.org\/doi\/pdf\/10.15252\/emmm.202013328","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.15252\/emmm.202013328.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T06:35:41Z","timestamp":1779086141000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.15252\/emmm.202013328"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,10]]},"references-count":47,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,4,9]]}},"alternative-id":["BFEMMM202013328"],"URL":"https:\/\/doi.org\/10.15252\/emmm.202013328","relation":{},"ISSN":["1757-4676","1757-4684"],"issn-type":[{"value":"1757-4676","type":"print"},{"value":"1757-4684","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,10]]},"assertion":[{"value":"24 August 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 February 2021","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 February 2021","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 March 2021","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare that they have no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}],"article-number":"EMMM202013328"}}