{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T16:33:13Z","timestamp":1783355593791,"version":"3.54.6"},"reference-count":164,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,10,14]],"date-time":"2024-10-14T00:00:00Z","timestamp":1728864000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Muscle diseases cover a diverse group of disorders that, in most cases, are hereditary. The rarity of the individual muscle diseases provides a challenge for researchers when wanting to establish natural history of the conditions and when trying to develop diagnostic tools, therapies, and outcome measures to evaluate disease progression. With emerging molecular therapies in many genetic muscle diseases, as well as biological therapies for the immune-mediated diseases, biological biomarkers play an important role in both drug development and evaluation.<\/jats:p>\n               <jats:p>In this review, we focus on the role of biological biomarkers in muscle diseases and discuss their utility as surrogate end points in therapeutic trials. We categorize these as either (i) disease unspecific markers; (ii) markers of specific pathways that may be used for more than one disease; or (iii) disease-specific markers. We also propose that evaluation of specific therapeutic interventions benefits from biological markers that match the intervention.<\/jats:p>","DOI":"10.1093\/brain\/awae323","type":"journal-article","created":{"date-parts":[[2024,10,14]],"date-time":"2024-10-14T10:04:04Z","timestamp":1728900244000},"page":"363-375","source":"Crossref","is-referenced-by-count":5,"title":["Biological biomarkers in muscle diseases relevant for follow-up and evaluation of treatment"],"prefix":"10.1093","volume":"148","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4566-4156","authenticated-orcid":false,"given":"Mads G","family":"Stemmerik","sequence":"first","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen , 2100 Copenhagen ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Tasca","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts , Newcastle Upon Tyne NE1 3BZ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nils Erik","family":"Gilhus","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine, University of Bergen , 5007 Bergen ,","place":["Norway"]},{"name":"Department of Neurology, Haukeland University Hospital , 5009 Bergen ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Servais","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, MDUK Oxford Neuromuscular Centre and NIHR Oxford Biomedical Research Centre, University of Oxford , Oxford OX1 3PT ,","place":["UK"]},{"name":"Division of Child Neurology, Department of Pediatrics, Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires, University Hospital Li\u00e8ge and University of Li\u00e8ge , 4000 Li\u00e8ge ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Vicino","sequence":"additional","affiliation":[{"name":"Nerve-Muscle Unit, Neurology Service, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne , 1005 Lausanne ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Maggi","sequence":"additional","affiliation":[{"name":"Neuroimmunology and Neuromuscular Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta , 20133 Milan MI ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Sansone","sequence":"additional","affiliation":[{"name":"The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan- ERN for Neuromuscular Diseases , 20162 Milan MI ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen , 2100 Copenhagen ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,10,14]]},"reference":[{"key":"2025020305063910400_awae323-B1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1002\/prca.201000130","article-title":"New pathway for qualification of novel methodologies in the European Medicines Agency","volume":"5","author":"Manolis","year":"2011","journal-title":"Proteomics Clin Appl"},{"key":"2025020305063910400_awae323-B2","volume-title":"Qualification process for drug development tools guidance for industry and FDA staff","author":"Center for Drug Evaluation and Research","year":"2020"},{"key":"2025020305063910400_awae323-B3","doi-asserted-by":"crossref","first-page":"e638","DOI":"10.1212\/WNL.0000000000200708","article-title":"Prospective natural history study in 24 adult patients with LGMDR12 over 2 years of follow-up: Quantitative MRI and clinical outcome measures","volume":"99","author":"De Wel","year":"2022","journal-title":"Neurology"},{"key":"2025020305063910400_awae323-B4","doi-asserted-by":"crossref","first-page":"e2103","DOI":"10.1212\/WNL.0000000000012882","article-title":"Natural history of facioscapulohumeral dystrophy in children: A 2-year follow-up","volume":"97","author":"Dijkstra","year":"2021","journal-title":"Neurology"},{"key":"2025020305063910400_awae323-B5","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.pediatrneurol.2020.08.013","article-title":"Natural history of steroid-treated young boys with Duchenne muscular dystrophy using the NSAA, 100m, and timed functional tests","volume":"113","author":"Miller","year":"2020","journal-title":"Pediatr Neurol"},{"key":"2025020305063910400_awae323-B6","doi-asserted-by":"crossref","first-page":"6057","DOI":"10.1007\/s00415-023-11964-z","article-title":"Hypokalemic periodic paralysis: A 3-year follow-up study","volume":"270","author":"Holm-Yildiz","year":"2023","journal-title":"J Neurol"},{"key":"2025020305063910400_awae323-B7","doi-asserted-by":"crossref","first-page":"132070","DOI":"10.1016\/j.ijcard.2024.132070","article-title":"Natural history of cardiac involvement in myotonic dystrophy type 1\u2014Emphasis on the need for lifelong follow-up","volume":"406","author":"Petri","year":"2024","journal-title":"Int J Cardiol"},{"key":"2025020305063910400_awae323-B8","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1002\/acn3.774","article-title":"Natural history of limb girdle muscular dystrophy R9 over 6 years: Searching for trial endpoints","volume":"6","author":"Murphy","year":"2019","journal-title":"Ann Clin Transl Neurol"},{"key":"2025020305063910400_awae323-B9","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.nmd.2023.01.001","article-title":"Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy","volume":"33","author":"Moore","year":"2023","journal-title":"Neuromuscul Disord"},{"key":"2025020305063910400_awae323-B10","author":"Virginia Commonwealth University"},{"key":"2025020305063910400_awae323-B11","author":"Genethon"},{"key":"2025020305063910400_awae323-B12","author":"Genethon"},{"key":"2025020305063910400_awae323-B13","author":"FDA-NIH Biomarker Working Group"},{"key":"2025020305063910400_awae323-B14","doi-asserted-by":"crossref","first-page":"989","DOI":"10.3233\/JND-210643","article-title":"Open-label evaluation of eteplirsen in patients with Duchenne muscular dystrophy amenable to exon 51 skipping: PROMOVI trial","volume":"8","author":"McDonald","year":"1001","journal-title":"J Neuromuscul Dis"},{"key":"2025020305063910400_awae323-B15","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1016\/S1474-4422(14)70195-4","article-title":"Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): An exploratory, randomised, placebo-controlled phase 2 study","volume":"13","author":"Voit","year":"2014","journal-title":"Lancet Neurol"},{"key":"2025020305063910400_awae323-B16","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1001\/jamaneurol.2020.1264","article-title":"Safety, tolerability, and efficacy of Viltolarsen in boys with Duchenne muscular dystrophy amenable to exon 53 skipping","volume":"77","author":"Clemens","year":"2020","journal-title":"JAMA Neurol"},{"key":"2025020305063910400_awae323-B17","doi-asserted-by":"crossref","first-page":"13359","DOI":"10.3390\/ijms232113359","article-title":"Recent progress and challenges in the development of antisense therapies for myotonic dystrophy type 1","volume":"23","author":"De Serres-B\u00e9rard","year":"2022","journal-title":"Int J Mol Sci"},{"key":"2025020305063910400_awae323-B18","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/S1474-4422(24)00073-5","article-title":"Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): A randomised, double-blind, placebo-controlled phase 2b trial","volume":"23","author":"Tawil","year":"2024","journal-title":"Lancet Neurol"},{"key":"2025020305063910400_awae323-B19","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1002\/ana.25804","article-title":"MRI in neuromuscular diseases: An emerging diagnostic tool and biomarker for prognosis and efficacy","volume":"88","author":"Dahlqvist","year":"2020","journal-title":"Ann Neurol"},{"key":"2025020305063910400_awae323-B20","first-page":"1097","article-title":"Disruptions of muscle fiber plasma membranes. Role in exercise-induced damage","volume":"140","author":"McNeil","year":"1992","journal-title":"Am J Pathol"},{"key":"2025020305063910400_awae323-B21","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1111\/imj.12710","article-title":"Macro-creatine kinase: A neglected cause of elevated creatine kinase","volume":"45","author":"Aljuani","year":"2015","journal-title":"Intern Med J"},{"key":"2025020305063910400_awae323-B22","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/mus.27760","article-title":"A longitudinal study of creatine kinase and creatinine levels in Duchenne muscular dystrophy","volume":"67","author":"Zygmunt","year":"2023","journal-title":"Muscle Nerve"},{"key":"2025020305063910400_awae323-B23","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1002\/mus.880100105","article-title":"An examination of some factors influencing creatine kinase in the blood of patients with muscular dystrophy","volume":"10","author":"Jackson","year":"1987","journal-title":"Muscle Nerve"},{"key":"2025020305063910400_awae323-B24","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.3390\/biom11081246","article-title":"Circulating biomarkers in neuromuscular disorders: What is known, what is new","volume":"11","author":"Barp","year":"2021","journal-title":"Biomolecules"},{"key":"2025020305063910400_awae323-B25","doi-asserted-by":"crossref","first-page":"e975","DOI":"10.1212\/WNL.0000000000201609","article-title":"Longitudinal assessment of creatine kinase, creatine\/creatinineratio, and myostatin as monitoring biomarkers in becker muscular dystrophy","volume":"100","author":"van de Velde","year":"2023","journal-title":"Neurology"},{"key":"2025020305063910400_awae323-B26","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/mus.27222","article-title":"Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy","volume":"64","author":"Barthel","year":"2021","journal-title":"Muscle Nerve"},{"key":"2025020305063910400_awae323-B27","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.jsams.2012.05.006","article-title":"Changes in serum fast and slow skeletal troponin I concentration following maximal eccentric contractions","volume":"16","author":"Chapman","year":"2013","journal-title":"J Sci Med Sport"},{"key":"2025020305063910400_awae323-B28","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":"2025020305063910400_awae323-B29","doi-asserted-by":"crossref","first-page":"e0153461","DOI":"10.1371\/journal.pone.0153461","article-title":"Discovery of metabolic biomarkers for Duchenne muscular dystrophy within a natural history study","volume":"11","author":"Boca","year":"2016","journal-title":"PLoS One"},{"key":"2025020305063910400_awae323-B30","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":"2025020305063910400_awae323-B31","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"},{"key":"2025020305063910400_awae323-B32","doi-asserted-by":"crossref","first-page":"7153","DOI":"10.1073\/pnas.1507719112","article-title":"Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy","volume":"112","author":"Hathout","year":"2015","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025020305063910400_awae323-B33","doi-asserted-by":"crossref","first-page":"231","DOI":"10.3233\/JND-190454","article-title":"Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy","volume":"7","author":"Strandberg","year":"2020","journal-title":"J Neuromuscul Dis"},{"key":"2025020305063910400_awae323-B34","doi-asserted-by":"crossref","first-page":"918","DOI":"10.15252\/emmm.201303724","article-title":"Affinity proteomics within rare diseases: A BIO-NMD study for blood biomarkers of muscular dystrophies","volume":"6","author":"Ayoglu","year":"2014","journal-title":"EMBO Mol Med"},{"key":"2025020305063910400_awae323-B35","doi-asserted-by":"crossref","first-page":"S55","DOI":"10.1016\/j.nmd.2022.07.059","article-title":"FP.06 use of an exercise challenge system to define a universal proteomic signature of muscle injury in a diverse set of adults with inherited myopathy","volume":"32","author":"Stemmerik","year":"2022","journal-title":"Neuromuscul Dis"},{"key":"2025020305063910400_awae323-B36","doi-asserted-by":"crossref","first-page":"921785","DOI":"10.3389\/fneur.2022.921785","article-title":"Novel miRNA biomarkers for patients with Duchenne muscular dystrophy","volume":"13","author":"Meng","year":"2022","journal-title":"Front Neurol"},{"key":"2025020305063910400_awae323-B37","doi-asserted-by":"crossref","first-page":"563609","DOI":"10.3389\/fneur.2020.563609","article-title":"Serum MyomiRs as biomarkers for female carriers of Duchenne\/Becker muscular dystrophy","volume":"11","author":"Zhang","year":"2020","journal-title":"Front Neurol"},{"key":"2025020305063910400_awae323-B38","doi-asserted-by":"crossref","first-page":"875","DOI":"10.2217\/epi-2018-0022","article-title":"Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients","volume":"10","author":"Catapano","year":"2018","journal-title":"Epigenomics"},{"key":"2025020305063910400_awae323-B39","doi-asserted-by":"crossref","first-page":"4678","DOI":"10.1111\/jcmm.17462","article-title":"MicroRNAs as serum biomarkers in Becker muscular dystrophy","volume":"26","author":"Gagliardi","year":"2022","journal-title":"J Cell Mol Med"},{"key":"2025020305063910400_awae323-B40","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":"2025020305063910400_awae323-B41","doi-asserted-by":"crossref","first-page":"e177","DOI":"10.1038\/mtna.2014.29","article-title":"Circulating muscle-specific miRNAs in Duchenne muscular dystrophy patients","volume":"3","author":"Li","year":"2014","journal-title":"Mol Ther Nucleic Acids"},{"key":"2025020305063910400_awae323-B42","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":"2025020305063910400_awae323-B43","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/j.omtn.2022.08.033","article-title":"Exon skipping induces uniform dystrophin rescue with dose-dependent restoration of serum miRNA biomarkers and muscle biophysical properties","volume":"29","author":"Chwalenia","year":"2022","journal-title":"Mol Ther Nucleic Acids"},{"key":"2025020305063910400_awae323-B44","doi-asserted-by":"crossref","first-page":"9139","DOI":"10.1038\/s41598-020-66016-7","article-title":"miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy","volume":"10","author":"Sanson","year":"2020","journal-title":"Sci Rep"},{"key":"2025020305063910400_awae323-B45","doi-asserted-by":"crossref","first-page":"2198","DOI":"10.3390\/cells12172198","article-title":"Identification of unique microRNA profiles in different types of idiopathic inflammatory myopathy","volume":"12","author":"Mu\u00f1oz-Braceras","year":"2023","journal-title":"Cells"},{"key":"2025020305063910400_awae323-B46","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":"2025020305063910400_awae323-B47","doi-asserted-by":"crossref","first-page":"e0125341","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":"2025020305063910400_awae323-B48","doi-asserted-by":"crossref","first-page":"e108411","DOI":"10.1371\/journal.pone.0108411","article-title":"Next-generation sequencing analysis of miRNA expression in control and FSHD myogenesis","volume":"9","author":"Colangelo","year":"2014","journal-title":"PLoS One"},{"key":"2025020305063910400_awae323-B49","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1038\/s41436-018-0103-8","article-title":"microRNAs as biomarkers in Pompe disease","volume":"21","author":"Tarallo","year":"2019","journal-title":"Genet Med"},{"key":"2025020305063910400_awae323-B50","doi-asserted-by":"crossref","first-page":"5673","DOI":"10.3390\/ijms22115673","article-title":"Dysregulation of muscle-specific MicroRNAs as common pathogenic feature associated with muscle atrophy in ALS, SMA and SBMA: Evidence from animal models and human patients","volume":"22","author":"Malacarne","year":"2021","journal-title":"Int J Mol Sci"},{"key":"2025020305063910400_awae323-B51","doi-asserted-by":"crossref","first-page":"e489","DOI":"10.1212\/WNL.0000000000012266","article-title":"MicroRNAs as biomarkers of Charcot-Marie-Tooth disease type 1A","volume":"97","author":"Wang","year":"2021","journal-title":"Neurology"},{"key":"2025020305063910400_awae323-B52","doi-asserted-by":"crossref","first-page":"21","DOI":"10.3390\/biomedicines8020021","article-title":"Circulating MyomiRs as potential biomarkers to monitor response to nusinersen in pediatric SMA patients","volume":"8","author":"Bonanno","year":"2020","journal-title":"Biomedicines"},{"key":"2025020305063910400_awae323-B53","doi-asserted-by":"crossref","first-page":"50193","DOI":"10.18632\/oncotarget.16745","article-title":"miR-133b, a particular member of myomiRs, coming into playing its unique pathological role in human cancer","volume":"8","author":"Li","year":"2017","journal-title":"Oncotarget"},{"key":"2025020305063910400_awae323-B54","doi-asserted-by":"crossref","first-page":"162","DOI":"10.4331\/wjbc.v6.i3.162","article-title":"Roles of the canonical myomiRs miR-1, -133 and -206 in cell development and disease","volume":"6","author":"Mitchelson","year":"2015","journal-title":"World J Biol Chem"},{"key":"2025020305063910400_awae323-B55","doi-asserted-by":"crossref","first-page":"297","DOI":"10.3390\/nu12020297","article-title":"Expression patterns of muscle-specific miR-133b and miR-206 correlate with nutritional Status and sarcopenia","volume":"12","author":"Iannone","year":"2020","journal-title":"Nutrients"},{"key":"2025020305063910400_awae323-B56","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1111\/sms.14000","article-title":"Circulating microRNAs after a 24-h ultramarathon run in relation to muscle damage markers in elite athletes","volume":"31","author":"Chalchat","year":"2021","journal-title":"Scand J Med Sci Sports"},{"key":"2025020305063910400_awae323-B57","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1080\/00365513.2018.1426104","article-title":"Influence of middle-distance running on muscular micro RNAs","volume":"78","author":"Danese","year":"2018","journal-title":"Scand J Clin Lab Invest"},{"key":"2025020305063910400_awae323-B58","doi-asserted-by":"crossref","first-page":"e0181594","DOI":"10.1371\/journal.pone.0181594","article-title":"Acute resistance exercise modulates microRNA expression profiles: Combined tissue and circulatory targeted analyses","volume":"12","author":"D'Souza","year":"2017","journal-title":"PLoS One"},{"key":"2025020305063910400_awae323-B59","doi-asserted-by":"crossref","first-page":"e12955","DOI":"10.1111\/bpa.12955","article-title":"The role of interferons type I, II and III in myositis: A review","volume":"31","author":"Bolko","year":"2021","journal-title":"Brain Pathol"},{"key":"2025020305063910400_awae323-B60","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/gene.2011.61","article-title":"Relationship between disease activity and type 1 interferon- and other cytokine-inducible gene expression in blood in dermatomyositis and polymyositis","volume":"13","author":"Greenberg","year":"2012","journal-title":"Genes Immun"},{"key":"2025020305063910400_awae323-B61","doi-asserted-by":"crossref","first-page":"2183","DOI":"10.1002\/art.24631","article-title":"Characterization and peripheral blood biomarker assessment of anti-Jo-1 antibody-positive interstitial lung disease","volume":"60","author":"Richards","year":"2009","journal-title":"Arthritis Rheum"},{"key":"2025020305063910400_awae323-B62","doi-asserted-by":"crossref","first-page":"e1193","DOI":"10.1212\/WNL.0000000000008128","article-title":"Identification of distinctive interferon gene signatures in different types of myositis","volume":"93","author":"Pinal-Fernandez","year":"2019","journal-title":"Neurology"},{"key":"2025020305063910400_awae323-B63","doi-asserted-by":"crossref","first-page":"577833","DOI":"10.1016\/j.jneuroim.2022.577833","article-title":"Serum cytokine and chemokine profiles in patients with immune-mediated necrotizing myopathy","volume":"365","author":"Oda","year":"2022","journal-title":"J Neuroimmunol"},{"key":"2025020305063910400_awae323-B64","doi-asserted-by":"crossref","first-page":"1350","DOI":"10.1172\/JCI71206","article-title":"Reducing dynamin 2 expression rescues X-linked centronuclear myopathy","volume":"124","author":"Cowling","year":"2014","journal-title":"J Clin Invest"},{"key":"2025020305063910400_awae323-B65","doi-asserted-by":"crossref","first-page":"4413","DOI":"10.1038\/sj.emboj.7600442","article-title":"Regulation of Bin1 SH3 domain binding by phosphoinositides","volume":"23","author":"Kojima","year":"2004","journal-title":"EMBO J"},{"key":"2025020305063910400_awae323-B66","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1038\/embor.2013.119","article-title":"The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies","volume":"14","author":"Royer","year":"2013","journal-title":"EMBO Rep"},{"key":"2025020305063910400_awae323-B67","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1016\/j.ymthe.2021.08.006","article-title":"Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes","volume":"30","author":"Silva-Rojas","year":"2022","journal-title":"Mol Ther"},{"key":"2025020305063910400_awae323-B68","doi-asserted-by":"crossref","first-page":"11066","DOI":"10.1073\/pnas.1808170115","article-title":"Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy","volume":"115","author":"Buono","year":"2018","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2025020305063910400_awae323-B69","author":"Dynacure"},{"key":"2025020305063910400_awae323-B70","doi-asserted-by":"crossref","first-page":"3258","DOI":"10.1172\/JCI46267","article-title":"Mice lacking microRNA 133a develop dynamin 2\u2013dependent centronuclear myopathy","volume":"121","author":"Liu","year":"2011","journal-title":"J Clin Invest"},{"key":"2025020305063910400_awae323-B71","doi-asserted-by":"crossref","first-page":"2514","DOI":"10.1016\/j.ymthe.2021.04.033","article-title":"Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies","volume":"29","author":"Djeddi","year":"2021","journal-title":"Mol Ther"},{"key":"2025020305063910400_awae323-B72","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1016\/j.omtm.2020.04.022","article-title":"Myostatin: A circulating biomarker correlating with disease in myotubular myopathy mice and patients","volume":"17","author":"Koch","year":"2020","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2025020305063910400_awae323-B73","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1002\/jimd.12307","article-title":"Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease","volume":"44","author":"Lehtonen","year":"2021","journal-title":"J Inherit Metab Dis"},{"key":"2025020305063910400_awae323-B74","doi-asserted-by":"crossref","first-page":"1819","DOI":"10.1212\/01.wnl.0000436068.43384.ef","article-title":"Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease","volume":"81","author":"Davis","year":"2013","journal-title":"Neurology"},{"key":"2025020305063910400_awae323-B75","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1016\/j.cmet.2019.08.019","article-title":"Fibroblast growth factor 21 drives dynamics of local and systemic stress responses in mitochondrial myopathy with mtDNA deletions","volume":"30","author":"Forsstr\u00f6m","year":"2019","journal-title":"Cell Metab"},{"key":"2025020305063910400_awae323-B76","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.mito.2019.10.005","article-title":"Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy","volume":"50","author":"Poulsen","year":"2019","journal-title":"Mitochondrion"},{"key":"2025020305063910400_awae323-B77","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.mito.2014.10.006","article-title":"GDF15 is a novel biomarker to evaluate efficacy of pyruvate therapy for mitochondrial diseases","volume":"20","author":"Fujita","year":"2015","journal-title":"Mitochondrion"},{"key":"2025020305063910400_awae323-B78","doi-asserted-by":"crossref","first-page":"e519","DOI":"10.1212\/NXG.0000000000000519","article-title":"Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy","volume":"6","author":"Montano","year":"2020","journal-title":"Neurol Genet"},{"key":"2025020305063910400_awae323-B79","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/ana.25506","article-title":"Deoxynucleoside therapy for thymidine kinase 2\u2013deficient myopathy","volume":"86","author":"Dom\u00ednguez-Gonz\u00e1lez","year":"2019","journal-title":"Ann Neurol"},{"key":"2025020305063910400_awae323-B80","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.mito.2019.02.001","article-title":"Biomarkers and clinical rating scales for sodium pyruvate therapy in patients with mitochondrial disease","volume":"48","author":"Koga","year":"2019","journal-title":"Mitochondrion"},{"key":"2025020305063910400_awae323-B81","doi-asserted-by":"crossref","first-page":"e687","DOI":"10.1212\/WNL.0000000000008861","article-title":"Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial","volume":"94","author":"Madsen","year":"2020","journal-title":"Neurology"},{"key":"2025020305063910400_awae323-B82","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1016\/j.cmet.2020.04.008","article-title":"Niacin cures systemic NAD+ deficiency and improves muscle performance in adult-onset mitochondrial myopathy","volume":"31","author":"Pirinen","year":"2020","journal-title":"Cell Metab"},{"key":"2025020305063910400_awae323-B83","doi-asserted-by":"crossref","first-page":"3125","DOI":"10.1002\/art.22865","article-title":"Anti-Jo-1 antibody levels correlate with disease activity in idiopathic inflammatory myopathy","volume":"56","author":"Stone","year":"2007","journal-title":"Arthritis Rheum"},{"key":"2025020305063910400_awae323-B84","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1002\/art.38270","article-title":"Predictors of clinical improvement in rituximab-treated refractory adult and juvenile dermatomyositis and adult polymyositis","volume":"66","author":"Aggarwal","year":"2014","journal-title":"Arthritis Rheumatol"},{"key":"2025020305063910400_awae323-B85","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1093\/rheumatology\/kev444","article-title":"Autoantibody levels in myositis patients correlate with clinical response during B cell depletion with rituximab","volume":"55","author":"Aggarwal","year":"2016","journal-title":"Rheumatology (Oxford)"},{"key":"2025020305063910400_awae323-B86","doi-asserted-by":"crossref","first-page":"4087","DOI":"10.1002\/art.34673","article-title":"Antibody levels correlate with creatine kinase levels and strength in anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase-associated autoimmune myopathy","volume":"64","author":"Werner","year":"2012","journal-title":"Arthritis Rheum"},{"key":"2025020305063910400_awae323-B87","doi-asserted-by":"crossref","first-page":"4006","DOI":"10.1093\/rheumatology\/kead298","article-title":"Efgartigimod restores muscle function in a humanized mouse model of immune-mediated necrotizing myopathy","volume":"62","author":"Julien","year":"2023","journal-title":"Rheumatology (Oxford)"},{"key":"2025020305063910400_awae323-B88","doi-asserted-by":"crossref","first-page":"2036","DOI":"10.3390\/biomedicines10082036","article-title":"Prevention of anti-HMGCR immune-mediated necrotising myopathy by C5 complement inhibition in a humanised mouse model","volume":"10","author":"Julien","year":"2022","journal-title":"Biomedicines"},{"key":"2025020305063910400_awae323-B89","doi-asserted-by":"crossref","first-page":"1961","DOI":"10.1002\/art.30344","article-title":"Correlation of anti-signal recognition particle autoantibody levels with creatine kinase activity in patients with necrotizing myopathy","volume":"63","author":"Benveniste","year":"2011","journal-title":"Arthritis Rheum"},{"key":"2025020305063910400_awae323-B90","doi-asserted-by":"crossref","first-page":"2886","DOI":"10.3390\/jcm9092886","article-title":"Therapeutic strategies targeting DUX4 in FSHD","volume":"9","author":"Le Gall","year":"2020","journal-title":"J Clin Med"},{"key":"2025020305063910400_awae323-B91","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1093\/hmg\/ddy364","article-title":"MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD","volume":"28","author":"Wang","year":"2019","journal-title":"Hum Mol Genet"},{"key":"2025020305063910400_awae323-B92","doi-asserted-by":"crossref","first-page":"e38779","DOI":"10.1371\/journal.pone.0038779","article-title":"Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles","volume":"7","author":"Tasca","year":"2012","journal-title":"PLoS One"},{"key":"2025020305063910400_awae323-B93","doi-asserted-by":"crossref","first-page":"1426","DOI":"10.1038\/s41598-022-04817-8","article-title":"Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers","volume":"12","author":"van den Heuvel","year":"2022","journal-title":"Sci Rep"},{"key":"2025020305063910400_awae323-B94","doi-asserted-by":"crossref","first-page":"e1008754","DOI":"10.1371\/journal.pgen.1008754","article-title":"Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei","volume":"16","author":"Jiang","year":"2020","journal-title":"PLoS Genet"},{"key":"2025020305063910400_awae323-B95","doi-asserted-by":"crossref","first-page":"1064","DOI":"10.1093\/hmg\/ddy400","article-title":"Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development","volume":"28","author":"van den Heuvel","year":"2019","journal-title":"Hum Mol Genet"},{"key":"2025020305063910400_awae323-B96","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1111\/j.1582-4934.2012.01647.x","article-title":"DUX4 expression in FSHD muscle cells: How could such a rare protein cause a myopathy?","volume":"17","author":"Tassin","year":"2013","journal-title":"J Cell Mol Med"},{"key":"2025020305063910400_awae323-B97","doi-asserted-by":"crossref","first-page":"e1001181","DOI":"10.1371\/journal.pgen.1001181","article-title":"Facioscapulohumeral dystrophy: Incomplete suppression of a retrotransposed gene","volume":"6","author":"Snider","year":"2010","journal-title":"PLoS Genet"},{"key":"2025020305063910400_awae323-B98","doi-asserted-by":"crossref","first-page":"5342","DOI":"10.1093\/hmg\/ddu251","article-title":"DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle","volume":"23","author":"Yao","year":"2014","journal-title":"Hum Mol Genet"},{"key":"2025020305063910400_awae323-B99","doi-asserted-by":"crossref","first-page":"2959","DOI":"10.1007\/s12035-017-0563-x","article-title":"Muscle microdialysis to investigate inflammatory biomarkers in facioscapulohumeral muscular dystrophy","volume":"55","author":"Tasca","year":"2018","journal-title":"Mol Neurobiol"},{"key":"2025020305063910400_awae323-B100","doi-asserted-by":"crossref","first-page":"290","DOI":"10.3390\/ijms22010290","article-title":"Proteomics of muscle microdialysates identifies potential circulating biomarkers in facioscapulohumeral muscular dystrophy","volume":"22","author":"Corasolla Carregari","year":"2021","journal-title":"Int J Mol Sci"},{"key":"2025020305063910400_awae323-B101","doi-asserted-by":"crossref","first-page":"236","DOI":"10.3390\/jpm10040236","article-title":"Multi-omics identifies circulating miRNA and protein biomarkers for facioscapulohumeral dystrophy","volume":"10","author":"Heier","year":"2020","journal-title":"J Pers Med"},{"key":"2025020305063910400_awae323-B102","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1093\/hmg\/ddab364","article-title":"Elevated plasma complement components in facioscapulohumeral dystrophy","volume":"31","author":"Wong","year":"2022","journal-title":"Hum Mol Genet"},{"key":"2025020305063910400_awae323-B103","doi-asserted-by":"crossref","first-page":"83","DOI":"10.3233\/JND-210711","article-title":"Identification of serum interleukin 6 levels as a disease severity biomarker in facioscapulohumeral muscular dystrophy","volume":"9","author":"Gros","year":"2022","journal-title":"J Neuromuscul Dis"},{"key":"2025020305063910400_awae323-B104","doi-asserted-by":"crossref","first-page":"fcad221","DOI":"10.1093\/braincomms\/fcad221","article-title":"The FSHD muscle\u2013blood biomarker: A circulating transcriptomic biomarker for clinical severity in facioscapulohumeral muscular dystrophy","volume":"5","author":"Banerji","year":"2023","journal-title":"Brain Commun"},{"key":"2025020305063910400_awae323-B105","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.nmd.2022.10.005","article-title":"265th ENMC international workshop: Muscle imaging in facioscapulohumeral muscular dystrophy (FSHD): Relevance for clinical trials. 22-24 April 2022, hoofddorp, The Netherlands","volume":"33","author":"Monforte","year":"2023","journal-title":"Neuromuscul Disord"},{"key":"2025020305063910400_awae323-B106","doi-asserted-by":"crossref","first-page":"2337","DOI":"10.1016\/j.ymthe.2018.07.011","article-title":"Systemic AAV micro-dystrophin gene therapy for Duchenne muscular dystrophy","volume":"26","author":"Duan","year":"2018","journal-title":"Mol Ther"},{"key":"2025020305063910400_awae323-B107","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1002\/ana.25951","article-title":"Very low residual dystrophin quantity is associated with milder dystrophinopathy","volume":"89","author":"de Feraudy","year":"2021","journal-title":"Ann Neurol"},{"key":"2025020305063910400_awae323-B108","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1002\/humu.23561","article-title":"DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype","volume":"39","author":"Wang","year":"2018","journal-title":"Hum Mutat"},{"issue":"Pt 12","key":"2025020305063910400_awae323-B109","doi-asserted-by":"crossref","first-page":"3547","DOI":"10.1093\/brain\/awr291","article-title":"Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials","volume":"134","author":"Anthony","year":"2011","journal-title":"Brain"},{"key":"2025020305063910400_awae323-B110","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1016\/S1474-4422(22)00125-9","article-title":"Emerging therapies for Duchenne muscular dystrophy","volume":"21","author":"Markati","year":"2022","journal-title":"Lancet Neurol"},{"key":"2025020305063910400_awae323-B111","doi-asserted-by":"crossref","first-page":"16105","DOI":"10.1038\/ncomms16105","article-title":"Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy","volume":"8","author":"Le Guiner","year":"2017","journal-title":"Nat Commun"},{"key":"2025020305063910400_awae323-B112","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1016\/j.ymthe.2017.02.019","article-title":"Progress toward gene therapy for Duchenne muscular dystrophy","volume":"25","author":"Chamberlain","year":"2017","journal-title":"Mol Ther"},{"key":"2025020305063910400_awae323-B113","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.nmd.2022.12.007","article-title":"Clinical potential of microdystrophin as a surrogate endpoint","volume":"33","author":"Boehler","year":"2023","journal-title":"Neuromuscul Disord"},{"key":"2025020305063910400_awae323-B114","doi-asserted-by":"crossref","first-page":"2209","DOI":"10.1016\/j.celrep.2016.02.017","article-title":"Identification of a post-translational modification with ribitol-phosphate and its defect in muscular dystrophy","volume":"14","author":"Kanagawa","year":"2016","journal-title":"Cell Rep"},{"key":"2025020305063910400_awae323-B115","doi-asserted-by":"crossref","first-page":"e14473","DOI":"10.7554\/eLife.14473","article-title":"The functional O-mannose glycan on \u03b1-dystroglycan contains a phospho-ribitol primed for matriglycan addition","volume":"5","author":"Praissman","year":"2016","journal-title":"Elife"},{"key":"2025020305063910400_awae323-B116","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1038\/mt.2013.156","article-title":"Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of \u03b1-dystroglycan and improves muscle functions","volume":"21","author":"Xu","year":"2013","journal-title":"Mol Ther"},{"key":"2025020305063910400_awae323-B117","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/j.nmd.2017.02.015","article-title":"Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated \u03b1-dystroglycan levels in patients homozygous for common FKRP mutation","volume":"27","author":"Alhamidi","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"2025020305063910400_awae323-B118","doi-asserted-by":"crossref","first-page":"3448","DOI":"10.1038\/s41467-018-05990-z","article-title":"Ribitol restores functionally glycosylated \u03b1-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice","volume":"9","author":"Cataldi","year":"2018","journal-title":"Nat Commun"},{"key":"2025020305063910400_awae323-B119","doi-asserted-by":"crossref","first-page":"2025","DOI":"10.1016\/j.ajpath.2015.03.017","article-title":"Restoration of functional glycosylation of \u03b1-dystroglycan in FKRP mutant mice is associated with muscle regeneration","volume":"185","author":"Awano","year":"2015","journal-title":"Am J Pathol"},{"key":"2025020305063910400_awae323-B120","author":"Sarepta Therapeutics, Inc"},{"key":"2025020305063910400_awae323-B121","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1002\/ana.21732","article-title":"Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins","volume":"66","author":"Mendell","year":"2009","journal-title":"Ann Neurol"},{"key":"2025020305063910400_awae323-B122","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1093\/brain\/awr342","article-title":"A phase I trial of adeno-associated virus serotype 1-\u03b3-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C","volume":"135","author":"Herson","year":"2012","journal-title":"Brain"},{"key":"2025020305063910400_awae323-B123","doi-asserted-by":"crossref","first-page":"4916","DOI":"10.1093\/hmg\/ddv214","article-title":"Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies","volume":"24","author":"Rouillon","year":"2015","journal-title":"Hum Mol Genet"},{"key":"2025020305063910400_awae323-B124","author":"ML Bio Solutions, Inc"},{"key":"2025020305063910400_awae323-B125","author":"Sarepta Therapeutics, Inc"},{"key":"2025020305063910400_awae323-B126","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1002\/ana.23992","article-title":"Splicing biomarkers of disease severity in myotonic dystrophy","volume":"74","author":"Nakamori","year":"2013","journal-title":"Ann Neurol"},{"key":"2025020305063910400_awae323-B127","author":"Dyne Therapeutics"},{"key":"2025020305063910400_awae323-B128","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/S1474-4422(23)00001-7","article-title":"Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: A multicentre, randomised, dose-escalation, placebo-controlled, phase 1\/2a trial","volume":"22","author":"Thornton","year":"2023","journal-title":"Lancet Neurol"},{"key":"2025020305063910400_awae323-B129","doi-asserted-by":"crossref","first-page":"4739","DOI":"10.1172\/JCI128205","article-title":"Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice","volume":"129","author":"Klein","year":"2019","journal-title":"J Clin Invest"},{"key":"2025020305063910400_awae323-B130","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/acn3.271","article-title":"Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy","volume":"3","author":"Nakamori","year":"2016","journal-title":"Ann Clin Transl Neurol"},{"key":"2025020305063910400_awae323-B131","doi-asserted-by":"crossref","first-page":"e0231000","DOI":"10.1371\/journal.pone.0231000","article-title":"Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial","volume":"15","author":"Kurkiewicz","year":"2020","journal-title":"PLoS One"},{"key":"2025020305063910400_awae323-B132","author":"Virginia Commonwealth University"},{"key":"2025020305063910400_awae323-B133","author":"Avidity Biosciences, Inc"},{"key":"2025020305063910400_awae323-B134","author":"Vertex Pharmaceuticals Incorporated"},{"key":"2025020305063910400_awae323-B135","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3233\/JND-190426","article-title":"Advancements in AAV-mediated gene therapy for Pompe disease","volume":"7","author":"Salabarria","year":"2020","journal-title":"J Neuromuscul Dis"},{"key":"2025020305063910400_awae323-B136","doi-asserted-by":"crossref","first-page":"288","DOI":"10.21037\/atm.2019.05.02","article-title":"Liver depot gene therapy for Pompe disease","volume":"7","author":"Kishnani","year":"2019","journal-title":"Ann Transl Med"},{"key":"2025020305063910400_awae323-B137","doi-asserted-by":"crossref","first-page":"7223","DOI":"10.3390\/molecules26237223","article-title":"Pharmacological chaperone therapy for Pompe disease","volume":"26","author":"Borie-Guichot","year":"2021","journal-title":"Molecules"},{"key":"2025020305063910400_awae323-B138","doi-asserted-by":"crossref","first-page":"33","DOI":"10.3390\/diseases4040033","article-title":"Genetic substrate reduction therapy: A promising approach for lysosomal storage disorders","volume":"4","author":"Coutinho","year":"2016","journal-title":"Diseases"},{"key":"2025020305063910400_awae323-B139","first-page":"645","article-title":"Therapeutic thoroughfares for adults living with Pompe disease","volume":"35","author":"Schoser","year":"2022","journal-title":"Curr Opin Neurol"},{"key":"2025020305063910400_awae323-B140","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.ymgme.2005.03.010","article-title":"Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease","volume":"85","author":"An","year":"2005","journal-title":"Mol Genet Metab"},{"key":"2025020305063910400_awae323-B141","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1016\/S1474-4422(21)00331-8","article-title":"Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): An international, randomised, double-blind, parallel-group, phase 3 trial","volume":"20","author":"Schoser","year":"2021","journal-title":"Lancet Neurol"},{"key":"2025020305063910400_awae323-B142","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1016\/S1474-4422(21)00241-6","article-title":"Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): A phase 3, randomised, multicentre trial","volume":"20","author":"Diaz-Manera","year":"2021","journal-title":"Lancet Neurol"},{"key":"2025020305063910400_awae323-B143","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1002\/ajmg.c.31317","article-title":"Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten","volume":"160C","author":"Raben","year":"2012","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2025020305063910400_awae323-B144","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1002\/emmm.201202176","article-title":"Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease","volume":"5","author":"Spampanato","year":"2013","journal-title":"EMBO Mol Med"},{"key":"2025020305063910400_awae323-B145","doi-asserted-by":"crossref","first-page":"e71900","DOI":"10.1371\/journal.pone.0071900","article-title":"Myostatin and insulin-like growth factor I: Potential therapeutic biomarkers for Pompe disease","volume":"8","author":"Chien","year":"2013","journal-title":"PLoS One"},{"key":"2025020305063910400_awae323-B146","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.ymgme.2016.05.013","article-title":"Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY study","volume":"119","author":"van der Ploeg","year":"2016","journal-title":"Mol Genet Metab"},{"key":"2025020305063910400_awae323-B147","doi-asserted-by":"crossref","first-page":"10898","DOI":"10.1038\/s41598-018-29170-7","article-title":"Quantitative muscle MRI to follow up late onset Pompe patients: A prospective study","volume":"8","author":"Figueroa-Bonaparte","year":"2018","journal-title":"Sci Rep"},{"key":"2025020305063910400_awae323-B148","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1002\/jcsm.12555","article-title":"Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles","volume":"11","author":"Nu\u00f1ez-Peralta","year":"2020","journal-title":"J Cachexia Sarcopenia Muscle"},{"key":"2025020305063910400_awae323-B149","doi-asserted-by":"crossref","first-page":"S73","DOI":"10.1016\/j.nmd.2022.07.132","article-title":"FP.19 quantification of glycogen distribution in late-onset Pompe patients using 7 Tesla C13 NMR spectroscopy","volume":"32","author":"Beha","year":"2022","journal-title":"Neuromuscul Dis"},{"key":"2025020305063910400_awae323-B150","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1002\/ana.10725","article-title":"A diagnostic cycle test for McArdle\u2019s disease","volume":"54","author":"Vissing","year":"2003","journal-title":"Ann Neurol"},{"key":"2025020305063910400_awae323-B151","doi-asserted-by":"crossref","first-page":"E1096","DOI":"10.1210\/jc.2015-1339","article-title":"Lactate and energy metabolism during exercise in patients with blocked glycogenolysis (McArdle disease)","volume":"100","author":"\u00d8rngreen","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"key":"2025020305063910400_awae323-B152","doi-asserted-by":"crossref","first-page":"74","DOI":"10.3390\/genes13010074","article-title":"Preclinical research in McArdle disease: A review of research models and therapeutic strategies","volume":"13","author":"Villarreal-Salazar","year":"2021","journal-title":"Genes (Basel)"},{"key":"2025020305063910400_awae323-B153","doi-asserted-by":"crossref","first-page":"2503","DOI":"10.1056\/NEJMoa031836","article-title":"The effect of oral sucrose on exercise tolerance in patients with McArdle\u2019s disease","volume":"349","author":"Vissing","year":"2003","journal-title":"N Engl J Med"},{"key":"2025020305063910400_awae323-B154","doi-asserted-by":"crossref","first-page":"2124","DOI":"10.1016\/j.clnu.2023.09.006","article-title":"Can a modified ketogenic diet be a nutritional strategy for patients with McArdle disease? Results from a randomized, single-blind, placebo-controlled, cross-over study","volume":"42","author":"L\u00f8kken","year":"2023","journal-title":"Clin Nutr"},{"key":"2025020305063910400_awae323-B155","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/S1474-4422(19)30200-5","article-title":"Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): A randomised, double-blind, placebo-controlled phase 2b trial","volume":"18","author":"Hanna","year":"2019","journal-title":"Lancet Neurol"},{"key":"2025020305063910400_awae323-B156","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1016\/S1474-4422(23)00275-2","article-title":"Safety and efficacy of arimoclomol for inclusion body myositis: A multicentre, randomised, double-blind, placebo-controlled trial","volume":"22","author":"Machado","year":"2023","journal-title":"Lancet Neurol"},{"key":"2025020305063910400_awae323-B157","doi-asserted-by":"crossref","first-page":"11139","DOI":"10.3390\/ijms241311139","article-title":"Serum-Circulating microRNAs in sporadic inclusion body myositis","volume":"24","author":"Lucchini","year":"2023","journal-title":"Int J Mol Sci"},{"key":"2025020305063910400_awae323-B158","doi-asserted-by":"crossref","first-page":"327","DOI":"10.3233\/JND-170234","article-title":"Cytokine profiling of Serum allows monitoring of disease progression in inclusion body myositis","volume":"4","author":"Badrising","year":"2017","journal-title":"J Neuromuscul Dis"},{"key":"2025020305063910400_awae323-B159","doi-asserted-by":"crossref","first-page":"100063","DOI":"10.1016\/j.cytox.2022.100063","article-title":"An exploratory study of circulating cytokines and chemokines in patients with muscle disorders proposes CD40L and CCL5 represent general disease markers while CXCL10 differentiates between patients with an autoimmune myositis","volume":"4","author":"De Paepe","year":"2022","journal-title":"Cytokine X"},{"key":"2025020305063910400_awae323-B160","doi-asserted-by":"crossref","first-page":"1020113","DOI":"10.3389\/fneur.2022.1020113","article-title":"Inclusion body myositis: Update on the diagnostic and therapeutic landscape","volume":"13","author":"Naddaf","year":"2022","journal-title":"Front Neurol"},{"key":"2025020305063910400_awae323-B161","doi-asserted-by":"crossref","first-page":"e0231064","DOI":"10.1371\/journal.pone.0231064","article-title":"Mitochondrial dysfunction underlying sporadic inclusion body myositis is ameliorated by the mitochondrial homing drug MA-5","volume":"15","author":"Oikawa","year":"2020","journal-title":"PLoS One"},{"key":"2025020305063910400_awae323-B162","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"},{"key":"2025020305063910400_awae323-B163","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1016\/j.nmd.2015.01.010","article-title":"Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy","volume":"25","author":"Zocevic","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"2025020305063910400_awae323-B164","doi-asserted-by":"crossref","first-page":"17888","DOI":"10.1038\/s41598-017-17982-y","article-title":"Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne","volume":"7","author":"Lourbakos","year":"2017","journal-title":"Sci Rep"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awae323\/60938518\/awae323.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/148\/2\/363\/60938518\/awae323.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/148\/2\/363\/60938518\/awae323.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,3]],"date-time":"2025-02-03T05:08:01Z","timestamp":1738559281000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/148\/2\/363\/7820621"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,14]]},"references-count":164,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,10,14]]},"published-print":{"date-parts":[[2025,2,3]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awae323","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,2]]},"published":{"date-parts":[[2024,10,14]]}}}