{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T16:56:27Z","timestamp":1788886587105,"version":"build-2803163510"},"reference-count":83,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,3,10]],"date-time":"2022-03-10T00:00:00Z","timestamp":1646870400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1016\/j.nmd.2022.03.003","type":"journal-article","created":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T11:31:21Z","timestamp":1646998281000},"page":"332-346","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"title":["Serum miRNAs as biomarkers for the rare types of muscular dystrophy"],"prefix":"10.1016","volume":"32","author":[{"given":"Andrie","family":"Koutsoulidou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Demetris","family":"Koutalianos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristia","family":"Georgiou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2982-679X","authenticated-orcid":false,"given":"Andrea C.","family":"Kakouri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9350-7577","authenticated-orcid":false,"given":"Anastasis","family":"Oulas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0836-5579","authenticated-orcid":false,"given":"Marios","family":"Tomazou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8913-108X","authenticated-orcid":false,"given":"Tassos C.","family":"Kyriakides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Roos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0163-4091","authenticated-orcid":false,"given":"George K.","family":"Papadimas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7633-5032","authenticated-orcid":false,"given":"Constantinos","family":"Papadopoulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelia","family":"Kararizou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2470-3363","authenticated-orcid":false,"given":"George M.","family":"Spyrou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni","family":"Zamba Papanicolaou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1377-211X","authenticated-orcid":false,"given":"Leonidas A.","family":"Phylactou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2022.03.003_bib0001","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/S0140-6736(02)07815-7","article-title":"The muscular dystrophies","volume":"359","author":"Emery","year":"2002","journal-title":"Lancet"},{"key":"10.1016\/j.nmd.2022.03.003_bib0002","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1001\/jamaneurol.2014.4621","article-title":"Advances in muscular dystrophies","volume":"72","author":"Kang","year":"2015","journal-title":"JAMA Neurol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0003","first-page":"1","article-title":"Biomarkers of Duchenne muscular dystrophy: current findings","volume":"8","author":"Szigyarto","year":"2018","journal-title":"Degener Neurol Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2022.03.003_bib0004","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.omtm.2020.05.017","article-title":"Circulating biomarkers in muscular dystrophies: disease and therapy monitoring","volume":"18","author":"Koutsoulidou","year":"2020","journal-title":"Mol Ther Methods Clin Dev"},{"key":"10.1016\/j.nmd.2022.03.003_bib0005","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1016\/j.molmed.2017.09.002","article-title":"Biomarker potential of extracellular miRNAs in Duchenne muscular dystrophy","volume":"23","author":"Coenen-Stass","year":"2017","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.nmd.2022.03.003_bib0006","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1177\/0192623317734823","article-title":"Duchenne and becker muscular dystrophies: a review of animal models, clinical end points, and biomarker quantification","volume":"45","author":"Wilson","year":"2017","journal-title":"Toxicol Pathol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0007","doi-asserted-by":"crossref","first-page":"e55281","DOI":"10.1371\/journal.pone.0055281","article-title":"Distinctive serum miRNA profile in mouse models of striated muscular pathologies","volume":"8","author":"Vignier","year":"2013","journal-title":"PLoS ONE"},{"key":"10.1016\/j.nmd.2022.03.003_bib0008","doi-asserted-by":"crossref","first-page":"e80263","DOI":"10.1371\/journal.pone.0080263","article-title":"Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular dystrophy","volume":"8","author":"Zaharieva","year":"2013","journal-title":"PLoS ONE"},{"key":"10.1016\/j.nmd.2022.03.003_bib0009","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/emmm.201100133","article-title":"miRNAs as serum biomarkers for Duchenne muscular dystrophy","volume":"3","author":"Cacchiarelli","year":"2011","journal-title":"EMBO Mol Med"},{"key":"10.1016\/j.nmd.2022.03.003_bib0010","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.nmd.2011.05.011","article-title":"Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD)","volume":"21","author":"Nadarajah","year":"2011","journal-title":"Neuromuscul Disord. NMD"},{"key":"10.1016\/j.nmd.2022.03.003_bib0011","doi-asserted-by":"crossref","first-page":"241","DOI":"10.3233\/JND-140066","article-title":"Muscle-derived proteins as serum biomarkers for monitoring disease progression in three forms of muscular dystrophy","volume":"2","author":"Burch","year":"2015","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2022.03.003_bib0012","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0125341","article-title":"Elevated muscle-specific miRNAs in serum of myotonic dystrophy patients relate to muscle disease progress","volume":"10","author":"Koutsoulidou","year":"2015","journal-title":"PLoS ONE"},{"key":"10.1016\/j.nmd.2022.03.003_bib0013","doi-asserted-by":"crossref","first-page":"3285","DOI":"10.1093\/hmg\/ddx212","article-title":"Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress","volume":"26","author":"Koutsoulidou","year":"2017","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2022.03.003_bib0014","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/j.nmd.2014.02.005","article-title":"Plasma microRNAs as biomarkers for myotonic dystrophy type 1","volume":"24","author":"Perfetti","year":"2014","journal-title":"Neuromuscul Disord NMD"},{"key":"10.1016\/j.nmd.2022.03.003_bib0015","doi-asserted-by":"crossref","first-page":"38174","DOI":"10.1038\/srep38174","article-title":"Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1","volume":"6","author":"Perfetti","year":"2016","journal-title":"Sci Rep"},{"key":"10.1016\/j.nmd.2022.03.003_bib0016","unstructured":"Preston MK, Tawil R, Wang LH. Facioscapulohumeral Muscular Dystrophy. 1999 Mar 8 [Updated 2020 Feb 6]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132022. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1443\/."},{"key":"10.1016\/j.nmd.2022.03.003_bib0017","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1212\/WNL.0000000000001783","volume":"85","author":"Tawil","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2022.03.003_bib0018","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1212\/CON.0000000000000801","article-title":"Facioscapulohumeral muscular dystrophies","volume":"25","author":"Wagner","year":"2019","journal-title":"Continuum"},{"key":"10.1016\/j.nmd.2022.03.003_bib0019","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1002\/humu.21091","article-title":"Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD","volume":"30","author":"de Greef","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2022.03.003_bib0020","first-page":"396","article-title":"Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium","volume":"51","author":"Sarfarazi","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2022.03.003_bib0021","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1111\/dmcn.14142","article-title":"Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood","volume":"61","author":"Steel","year":"2019","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0022","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1016\/0888-7543(91)90348-I","article-title":"Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization","volume":"9","author":"Wijmenga","year":"1991","journal-title":"Genomics"},{"key":"10.1016\/j.nmd.2022.03.003_bib0023","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1097\/WCO.0000000000000375","article-title":"Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies","volume":"29","author":"Vissing","year":"2016","journal-title":"Curr Opin Neurol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0024","doi-asserted-by":"crossref","first-page":"1954","DOI":"10.1212\/CON.0000000000000406","article-title":"The Limb-Girdle muscular dystrophies and the dystrophinopathies","volume":"22","author":"Iyadurai","year":"2016","journal-title":"Continuum"},{"key":"10.1016\/j.nmd.2022.03.003_bib0025","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/1471-2474-13-43","article-title":"Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies","volume":"13","author":"Hauerslev","year":"2012","journal-title":"BMC Musculoskelet Disord"},{"key":"10.1016\/j.nmd.2022.03.003_bib0026","unstructured":"Angelini C, Fanin M. Calpainopathy. 2005 May 10 [Updated 2017 Aug 3]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132022. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1313\/."},{"key":"10.1016\/j.nmd.2022.03.003_bib0027","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1212\/01.WNL.0000054481.84978.F9","article-title":"Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum","volume":"60","author":"Day","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2022.03.003_bib0028","doi-asserted-by":"crossref","first-page":"2114","DOI":"10.1093\/bioinformatics\/btu170","article-title":"Trimmomatic: a flexible trimmer for Illumina sequence data","volume":"30","author":"Bolger","year":"2014","journal-title":"Bioinformatics"},{"key":"10.1016\/j.nmd.2022.03.003_bib0029","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1101\/gr.209601.116","article-title":"UMI-tools: modeling sequencing errors in unique molecular identifiers to improve quantification accuracy","volume":"27","author":"Smith","year":"2017","journal-title":"Genome Res"},{"key":"10.1016\/j.nmd.2022.03.003_bib0030","doi-asserted-by":"crossref","first-page":"R25","DOI":"10.1186\/gb-2009-10-3-r25","article-title":"Ultrafast and memory-efficient alignment of short DNA sequences to the human genome","volume":"10","author":"Langmead","year":"2009","journal-title":"Genome Biol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0031","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1093\/bioinformatics\/btu638","article-title":"HTSeq\u2013a python framework to work with high-throughput sequencing data","volume":"31","author":"Anders","year":"2015","journal-title":"Bioinformatics"},{"issue":"1","key":"10.1016\/j.nmd.2022.03.003_bib0032","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1002\/0471250953.bi1209s29","article-title":"miRBase: microRNA sequences and annotation","volume":"29","author":"Griffiths-Jones","year":"2010","journal-title":"Curr Protoc Bioinform"},{"key":"10.1016\/j.nmd.2022.03.003_bib0033","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1093\/bioinformatics\/btp616","article-title":"edgeR: a Bioconductor package for differential expression analysis of digital gene expression data","volume":"26","author":"Robinson","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.nmd.2022.03.003_bib0034","doi-asserted-by":"crossref","first-page":"R25","DOI":"10.1186\/gb-2010-11-3-r25","article-title":"A scaling normalization method for differential expression analysis of RNA-seq data","volume":"11","author":"Robinson","year":"2010","journal-title":"Genome Biol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0035","doi-asserted-by":"crossref","DOI":"10.1515\/1544-6115.1826","article-title":"Detecting differential expression in RNA-sequence data using quasi-likelihood with shrunken dispersion estimates","volume":"11","author":"Lund","year":"2012","journal-title":"Stat Appl Genet Mol Biol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0036","doi-asserted-by":"crossref","first-page":"e454","DOI":"10.1038\/emm.2017.288","article-title":"Evaluation of several methodological challenges in circulating miRNA qPCR studies in patients with head and neck cancer","volume":"50","author":"Poel","year":"2018","journal-title":"Exp Mol Med"},{"key":"10.1016\/j.nmd.2022.03.003_bib0037","doi-asserted-by":"crossref","first-page":"R90","DOI":"10.1186\/bcr2766","article-title":"Circulating microRNAs as blood-based markers for patients with primary and metastatic breast cancer","volume":"12","author":"Roth","year":"2010","journal-title":"Breast Cancer Res BCR"},{"key":"10.1016\/j.nmd.2022.03.003_bib0038","doi-asserted-by":"crossref","first-page":"2599","DOI":"10.21037\/jtd.2018.04.128","article-title":"Evaluation of the performance of serum miRNAs as normalizers in microRNA studies focused on cardiovascular disease","volume":"10","author":"Wang","year":"2018","journal-title":"J Thorac Dis"},{"key":"10.1016\/j.nmd.2022.03.003_bib0039","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1186\/1471-2105-7-85","article-title":"Statistical analysis of real-time PCR data","volume":"7","author":"Yuan","year":"2006","journal-title":"BMC Bioinfor"},{"key":"10.1016\/j.nmd.2022.03.003_bib0040","doi-asserted-by":"crossref","first-page":"2498","DOI":"10.1101\/gr.1239303","article-title":"Cytoscape: a software environment for integrated models of biomolecular interaction networks","volume":"13","author":"Shannon","year":"2003","journal-title":"Genome Res"},{"key":"10.1016\/j.nmd.2022.03.003_bib0041","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1093\/bioinformatics\/btp101","article-title":"ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks","volume":"25","author":"Bindea","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.nmd.2022.03.003_bib0042","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1093\/bioinformatics\/btt019","article-title":"CluePedia Cytoscape plugin: pathway insights using integrated experimental and in silico data","volume":"29","author":"Bindea","year":"2013","journal-title":"Bioinformatics"},{"key":"10.1016\/j.nmd.2022.03.003_bib0043","series-title":"R: A Language and Environment for Statistical Computing","author":"Team","year":"2018"},{"key":"10.1016\/j.nmd.2022.03.003_bib0044","doi-asserted-by":"crossref","first-page":"D146","DOI":"10.1093\/nar\/gku1104","article-title":"miRDB: an online resource for microRNA target prediction and functional annotations","volume":"43","author":"Wong","year":"2015","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2022.03.003_bib0045","doi-asserted-by":"crossref","first-page":"D296","DOI":"10.1093\/nar\/gkx1067","article-title":"miRTarBase update 2018: a resource for experimentally validated microRNA-target interactions","volume":"46","author":"Chou","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2022.03.003_bib0046","doi-asserted-by":"crossref","first-page":"D105","DOI":"10.1093\/nar\/gkn851","article-title":"miRecords: an integrated resource for microRNA-target interactions","volume":"37","author":"Xiao","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2022.03.003_bib0047","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1002\/wics.147","article-title":"ggplot2","volume":"3","author":"Wickham","year":"2011","journal-title":"WIREs Comput Stat"},{"key":"10.1016\/j.nmd.2022.03.003_bib0048","first-page":"3631","article-title":"MyoD transcription factor induces myogenesis by inhibiting Twist-1 through miR-206","volume":"128","author":"Koutalianos","year":"2015","journal-title":"J Cell Sci"},{"key":"10.1016\/j.nmd.2022.03.003_bib0049","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1083\/jcb.200603008","article-title":"Muscle-specific microRNA miR-206 promotes muscle differentiation","volume":"174","author":"Kim","year":"2006","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0050","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1083\/jcb.200911036","article-title":"microRNA-1 and microRNA-206 regulate skeletal muscle satellite cell proliferation and differentiation by repressing Pax7","volume":"190","author":"Chen","year":"2010","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0051","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1083\/jcb.201006025","article-title":"MyoD regulates apoptosis of myoblasts through microRNA-mediated down-regulation of Pax3","volume":"191","author":"Hirai","year":"2010","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0052","doi-asserted-by":"crossref","first-page":"5863","DOI":"10.1093\/nar\/gkl743","article-title":"MIR-206 regulates connexin43 expression during skeletal muscle development","volume":"34","author":"Anderson","year":"2006","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2022.03.003_bib0053","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1083\/jcb.200603039","article-title":"MyoD inhibits Fstl1 and Utrn expression by inducing transcription of miR-206","volume":"175","author":"Rosenberg","year":"2006","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0054","doi-asserted-by":"crossref","first-page":"13805","DOI":"10.1074\/jbc.M110.192625","article-title":"TGF-beta regulates miR-206 and miR-29 to control myogenic differentiation through regulation of HDAC4","volume":"286","author":"Winbanks","year":"2011","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2022.03.003_bib0055","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1101\/gad.1500707","article-title":"MicroRNAs regulate the expression of the alternative splicing factor nPTB during muscle development","volume":"21","author":"Boutz","year":"2007","journal-title":"Genes Dev"},{"key":"10.1016\/j.nmd.2022.03.003_bib0056","doi-asserted-by":"crossref","first-page":"e3094","DOI":"10.1038\/cddis.2017.479","article-title":"miRNA-223 upregulated by MYOD inhibits myoblast proliferation by repressing IGF2 and facilitates myoblast differentiation by inhibiting ZEB1","volume":"8","author":"Li","year":"2017","journal-title":"Cell Death Dis"},{"key":"10.1016\/j.nmd.2022.03.003_bib0057","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1111\/acel.12442","article-title":"Age-related changes in miR-143-3p:igfbp5 interactions affect muscle regeneration","volume":"15","author":"Soriano-Arroquia","year":"2016","journal-title":"Aging Cell"},{"key":"10.1016\/j.nmd.2022.03.003_bib0058","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1152\/physiolgenomics.00112.2017","article-title":"Identification of human skeletal muscle miRNA related to strength by high-throughput sequencing","volume":"50","author":"Mitchell","year":"2018","journal-title":"Physiol Genom"},{"key":"10.1016\/j.nmd.2022.03.003_bib0059","doi-asserted-by":"crossref","first-page":"2651","DOI":"10.1172\/JCI73579","article-title":"MicroRNA-486-dependent modulation of DOCK3\/PTEN\/AKT signaling pathways improves muscular dystrophy-associated symptoms","volume":"124","author":"Alexander","year":"2014","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nmd.2022.03.003_bib0060","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ydbio.2015.12.013","article-title":"Muscle-specific microRNAs in skeletal muscle development","volume":"410","author":"Horak","year":"2016","journal-title":"Dev Biol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0061","doi-asserted-by":"crossref","first-page":"80","DOI":"10.3389\/fphys.2013.00080","article-title":"Muscle-enriched microRNA miR-486 decreases in circulation in response to exercise in young men","volume":"4","author":"Aoi","year":"2013","journal-title":"Front Physiol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0062","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1186\/s12864-016-2850-8","article-title":"MicroRNA-mRNA regulatory networking fine-tunes the porcine muscle fiber type, muscular mitochondrial respiratory and metabolic enzyme activities","volume":"17","author":"Liu","year":"2016","journal-title":"BMC Genom"},{"key":"10.1016\/j.nmd.2022.03.003_bib0063","doi-asserted-by":"crossref","DOI":"10.3389\/fonc.2020.607196","article-title":"MicroRNAs in skeletal muscle and hints on their potential role in muscle wasting during cancer Cachexia","volume":"10","author":"Marceca","year":"2020","journal-title":"Front Oncol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0064","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1093\/gerona\/gly207","article-title":"MicroRNAs in Skeletal muscle aging: current issues and perspectives","volume":"74","author":"Jung","year":"2019","journal-title":"J Gerontol A Biol Sci Med Sci"},{"key":"10.1016\/j.nmd.2022.03.003_bib0065","doi-asserted-by":"crossref","first-page":"D419","DOI":"10.1093\/nar\/gky1038","article-title":"PANTHER version 14: more genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools","volume":"47","author":"Mi","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2022.03.003_bib0066","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1038\/s41596-019-0128-8","article-title":"Protocol update for large-scale genome and gene function analysis with the PANTHER classification system (v.14.0)","volume":"14","author":"Mi","year":"2019","journal-title":"Nat Protoc"},{"key":"10.1016\/j.nmd.2022.03.003_bib0067","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1002\/jcsm.12304","article-title":"Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies","volume":"9","author":"Spitali","year":"2018","journal-title":"J Cachexia Sarcopenia Muscle"},{"key":"10.1016\/j.nmd.2022.03.003_bib0068","doi-asserted-by":"crossref","first-page":"2442","DOI":"10.1111\/jcmm.13543","article-title":"Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy","volume":"22","author":"Spitali","year":"2018","journal-title":"J Cell Mol Med"},{"key":"10.1016\/j.nmd.2022.03.003_bib0069","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1002\/prca.201500044","article-title":"Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients","volume":"10","author":"Oonk","year":"2016","journal-title":"Proteomics Clin Appl"},{"key":"10.1016\/j.nmd.2022.03.003_bib0070","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.nmd.2016.11.003","article-title":"Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy","volume":"27","author":"Llano-Diez","year":"2017","journal-title":"Neuromuscul Disord NMD"},{"key":"10.1016\/j.nmd.2022.03.003_bib0071","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0145107","article-title":"Transcriptome analysis of Ullrich Congenital Muscular Dystrophy fibroblasts reveals a disease extracellular matrix signature and key molecular regulators","volume":"10","author":"Paco","year":"2015","journal-title":"PLoS ONE"},{"key":"10.1016\/j.nmd.2022.03.003_bib0072","doi-asserted-by":"crossref","first-page":"3865","DOI":"10.1093\/nar\/gkw116","article-title":"Distribution of miRNA expression across human tissues","volume":"44","author":"Ludwig","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2022.03.003_bib0073","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/1471-213X-11-34","article-title":"Expression of miR-1, miR-133a, miR-133b and miR-206 increases during development of human skeletal muscle","volume":"11","author":"Koutsoulidou","year":"2011","journal-title":"BMC Dev Biol"},{"key":"10.1016\/j.nmd.2022.03.003_bib0074","doi-asserted-by":"crossref","first-page":"345","DOI":"10.7150\/ijbs.10921","article-title":"MiR-206, a key modulator of skeletal muscle development and disease","volume":"11","author":"Ma","year":"2015","journal-title":"Int J Biol Sci"},{"key":"10.1016\/j.nmd.2022.03.003_bib0075","doi-asserted-by":"crossref","first-page":"181","DOI":"10.3233\/JND-140034","article-title":"Multiplex screen of serum biomarkers in Facioscapulohumeral Muscular Dystrophy","volume":"1","author":"Statland","year":"2014","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2022.03.003_bib0076","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/j.nmd.2016.04.012","article-title":"A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD)","volume":"26","author":"Petek","year":"2016","journal-title":"Neuromuscul Disord NMD"},{"key":"10.1016\/j.nmd.2022.03.003_bib0077","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1007\/s11626-016-0109-y","article-title":"miR-143 regulates proliferation and differentiation of bovine skeletal muscle satellite cells by targeting IGFBP5","volume":"53","author":"Zhang","year":"2017","journal-title":"In Vitro Cell Dev Biol Anim"},{"key":"10.1016\/j.nmd.2022.03.003_bib0078","doi-asserted-by":"crossref","first-page":"4218","DOI":"10.1073\/pnas.1000300107","article-title":"Regulation of PI3-kinase\/Akt signaling by muscle-enriched microRNA-486","volume":"107","author":"Small","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.nmd.2022.03.003_bib0079","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1186\/s12877-021-02040-0","article-title":"Circulating MicroRNA-486 and MicroRNA-146a serve as potential biomarkers of sarcopenia in the older adults","volume":"21","author":"Liu","year":"2021","journal-title":"BMC Geriatr"},{"key":"10.1016\/j.nmd.2022.03.003_bib0080","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/2044-5040-1-27","article-title":"Regulation of DMD pathology by an ankyrin-encoded miRNA","volume":"1","author":"Alexander","year":"2011","journal-title":"Skelet Muscle"},{"key":"10.1016\/j.nmd.2022.03.003_bib0081","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3233\/JND-140058","article-title":"Skeletal muscle MicroRNAs: their diagnostic and therapeutic potential in human muscle diseases","volume":"2","author":"Alexander","year":"2015","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2022.03.003_bib0082","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/S1471-4914(03)00136-9","article-title":"Repairing the tears: dysferlin in muscle membrane repair","volume":"9","author":"Doherty","year":"2003","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.nmd.2022.03.003_bib0083","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.pcad.2017.06.003","article-title":"MicroRNAs as important regulators of exercise adaptation","volume":"60","author":"Silva","year":"2017","journal-title":"Prog Cardiovasc Dis"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896622000670?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896622000670?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:12:40Z","timestamp":1760775160000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896622000670"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":83,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["S0960896622000670"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2022.03.003","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2022,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Serum miRNAs as biomarkers for the rare types of muscular dystrophy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2022.03.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Author(s). Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}