{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T10:50:48Z","timestamp":1784544648335,"version":"3.55.0"},"reference-count":162,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T00:00:00Z","timestamp":1734307200000},"content-version":"am","delay-in-days":350,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2024,1]]},"DOI":"10.1016\/j.cca.2023.117691","type":"journal-article","created":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T11:10:33Z","timestamp":1702120233000},"page":"117691","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"special_numbering":"C","title":["Neuromuscular disorders in the omics era"],"prefix":"10.1016","volume":"553","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2324-1208","authenticated-orcid":false,"given":"Ivana","family":"Dabaj","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franklin","family":"Ducatez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Marret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soumeya","family":"Bekri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8901-2678","authenticated-orcid":false,"given":"Abdellah","family":"Tebani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.cca.2023.117691_b0005","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1055\/s-0036-1586263","article-title":"Neuromuscular diseases","volume":"36","author":"Morrison","year":"2016","journal-title":"Semin. Neurol."},{"key":"10.1016\/j.cca.2023.117691_b0010","doi-asserted-by":"crossref","unstructured":"J.J. Dowling, D.G. H, R.D. Cohn, C. Campbell, Treating pediatric neuromuscular disorders: The future is now, Am J Med Genet A 176(4) (2018) 804-841.","DOI":"10.1002\/ajmg.a.38418"},{"key":"10.1016\/j.cca.2023.117691_b0015","series-title":"Neuromuscular disorders of infancy, childhood, and adolescence: a clinician's approach","author":"Darras","year":"2014"},{"issue":"6","key":"10.1016\/j.cca.2023.117691_b0020","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1080\/030144699282435","article-title":"Inherited skeletal muscle disorders","volume":"26","author":"Laing","year":"1999","journal-title":"Ann. Hum. Biol."},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0025","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.yexcr.2013.12.020","article-title":"Biomarkers in rare neuromuscular diseases","volume":"325","author":"Scotton","year":"2014","journal-title":"Exp. Cell Res."},{"issue":"2","key":"10.1016\/j.cca.2023.117691_b0030","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1007\/s00115-021-01201-1","article-title":"Genomics and proteomics in the research of neuromuscular diseases","volume":"93","author":"Gangfu\u00df","year":"2022","journal-title":"Nervenarzt"},{"issue":"3","key":"10.1016\/j.cca.2023.117691_b0035","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1067\/mcp.2001.113989","article-title":"preferred definitions and conceptual framework","volume":"69","author":"Biomarkers and surrogate endpoints","year":"2001","journal-title":"Clin. Pharmacol. Ther."},{"issue":"8","key":"10.1016\/j.cca.2023.117691_b0040","doi-asserted-by":"crossref","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"},{"issue":"7","key":"10.1016\/j.cca.2023.117691_b0045","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1002\/mus.880140702","article-title":"Invited review: motor unit estimation: methods, results, and present status","volume":"14","author":"McComas","year":"1991","journal-title":"Muscle Nerve: Off. J. Am. Assoc. Electrodiagnostic Med."},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0050","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1113\/jphysiol.1967.sp008348","article-title":"Motor unit types of cat triceps surae muscle","volume":"193","author":"Burke","year":"1967","journal-title":"J. Physiol."},{"issue":"3","key":"10.1016\/j.cca.2023.117691_b0055","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1139\/h97-014","article-title":"Morphological adaptations of neuromuscular junctions depend on fiber type","volume":"22","author":"Sieck","year":"1997","journal-title":"Can. J. Appl. Physiol."},{"key":"10.1016\/j.cca.2023.117691_b0060","unstructured":"R.B. Daroff, M.J. Aminoff, Encyclopedia of the neurological sciences, Academic press, 2014."},{"key":"10.1016\/j.cca.2023.117691_b0065","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1016\/B978-0-444-52007-4.00023-0","article-title":"Sleep and breathing in neuromuscular disorders","volume":"99","author":"Chokroverty","year":"2011","journal-title":"Handb. Clin. Neurol."},{"issue":"8","key":"10.1016\/j.cca.2023.117691_b0070","doi-asserted-by":"crossref","first-page":"1406","DOI":"10.1038\/sj.gt.3300954","article-title":"Local and distant transfection of mdx muscle fibers with dystrophin and LacZ genes delivered in vivo by synthetic microspheres","volume":"6","author":"Baranov","year":"1999","journal-title":"Gene Ther."},{"issue":"6","key":"10.1016\/j.cca.2023.117691_b0075","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1038\/76448","article-title":"In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA\/DNA oligonucleotide","volume":"18","author":"Bartlett","year":"2000","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.cca.2023.117691_b0080","doi-asserted-by":"crossref","unstructured":"N. Natarajan, C. Ionita, Neonatal neuromuscular disorders, Avery's Diseases of the Newborn (2018) 952-960. e2.","DOI":"10.1016\/B978-0-323-40139-5.00064-4"},{"key":"10.1016\/j.cca.2023.117691_b0085","series-title":"Structural and molecular basis of skeletal muscle diseases","author":"Karpati","year":"2002"},{"key":"10.1016\/j.cca.2023.117691_b0090","series-title":"Periparturient Diseases of Dairy Cows: A Systems Biology Approach","first-page":"1","article-title":"What Are Omics Sciences?","author":"Vailati-Riboni","year":"2017"},{"issue":"8","key":"10.1016\/j.cca.2023.117691_b0095","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."},{"issue":"6","key":"10.1016\/j.cca.2023.117691_b0100","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1093\/bioinformatics\/bty722","article-title":"Adjutant: an R-based tool to support topic discovery for systematic and literature reviews","volume":"35","author":"Crisan","year":"2019","journal-title":"Bioinformatics"},{"issue":"12","key":"10.1016\/j.cca.2023.117691_b0105","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1016\/j.nmd.2021.11.004","article-title":"The 2022 version of the gene table of neuromuscular disorders (nuclear genome)","volume":"31","author":"Cohen","year":"2021","journal-title":"Neuromuscul. Disord."},{"issue":"s1","key":"10.1016\/j.cca.2023.117691_b0110","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1046\/j.1440-1789.2000.00321.x","article-title":"Muscular dystrophy","volume":"20","author":"Arahata","year":"2000","journal-title":"Neuropathology"},{"issue":"9307","key":"10.1016\/j.cca.2023.117691_b0115","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.cca.2023.117691_b0120","doi-asserted-by":"crossref","unstructured":"J.A. Ellis, E. Vroom, F. Muntoni, 195th ENMC International Workshop: Newborn screening for Duchenne muscular dystrophy 14-16th December, 2012, Naarden, The Netherlands, Neuromuscul Disord 23(8) (2013) 682-9.","DOI":"10.1016\/j.nmd.2013.05.008"},{"issue":"14","key":"10.1016\/j.cca.2023.117691_b0125","doi-asserted-by":"crossref","first-page":"1540","DOI":"10.1016\/j.jacc.2018.01.070","article-title":"Elevated cardiac Troponin T in patients with skeletal myopathies","volume":"71","author":"Schmid","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0130","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"},{"issue":"5875","key":"10.1016\/j.cca.2023.117691_b0135","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1126\/science.1155085","article-title":"Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy","volume":"320","author":"Oprea","year":"2008","journal-title":"Science"},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0140","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"},{"issue":"8","key":"10.1016\/j.cca.2023.117691_b0145","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1007\/s00246-017-1703-9","article-title":"Interleukin 1 receptor-like 1 protein (ST2) is a Potential biomarker for cardiomyopathy in duchenne muscular dystrophy","volume":"38","author":"Anderson","year":"2017","journal-title":"Pediatr. Cardiol."},{"issue":"23","key":"10.1016\/j.cca.2023.117691_b0150","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":"PNAS"},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0155","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1177\/0883073808324770","article-title":"Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy","volume":"24","author":"Cunniff","year":"2009","journal-title":"J. Child Neurol."},{"issue":"3","key":"10.1016\/j.cca.2023.117691_b0160","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1089\/gtmb.2009.0002","article-title":"Small mutations detected by multiplex ligation-dependent probe amplification of the dystrophin gene","volume":"13","author":"Okizuka","year":"2009","journal-title":"Genet. Test. Mol. Biomarkers"},{"issue":"2","key":"10.1016\/j.cca.2023.117691_b0165","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.nmd.2008.10.011","article-title":"Dystrophin gene analysis in Hungarian Duchenne\/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives","volume":"19","author":"Pik\u00f3","year":"2009","journal-title":"Neuromuscul. Disord."},{"issue":"12","key":"10.1016\/j.cca.2023.117691_b0170","doi-asserted-by":"crossref","first-page":"3225","DOI":"10.1093\/humrep\/dep293","article-title":"Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations","volume":"24","author":"Altarescu","year":"2009","journal-title":"Hum. Reprod."},{"issue":"2","key":"10.1016\/j.cca.2023.117691_b0175","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1089\/gtmb.2013.0384","article-title":"Germinal mosaicism in a sample of families with Duchenne\/Becker muscular dystrophy with partial deletions in the DMD gene","volume":"18","author":"Berm\u00fadez-L\u00f3pez","year":"2014","journal-title":"Genet. Test. Mol. Biomarkers"},{"issue":"18","key":"10.1016\/j.cca.2023.117691_b0180","doi-asserted-by":"crossref","first-page":"2799","DOI":"10.1161\/CIRCULATIONAHA.104.528281","article-title":"Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy","volume":"112","author":"Jefferies","year":"2005","journal-title":"Circulation"},{"issue":"7","key":"10.1016\/j.cca.2023.117691_b0185","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."},{"issue":"15","key":"10.1016\/j.cca.2023.117691_b0190","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.2217\/bmm-2021-0222","article-title":"Safety and disease monitoring biomarkers in Duchenne muscular dystrophy: results from a Phase II trial","volume":"15","author":"Wagner","year":"2021","journal-title":"Biomark. Med."},{"key":"10.1016\/j.cca.2023.117691_b0195","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. Neuromusc. Diseases"},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0200","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.nmd.2017.10.004","article-title":"A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen Duchenne Muscular Dystrophy","volume":"28","author":"Goemans","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.cca.2023.117691_b0205","doi-asserted-by":"crossref","unstructured":"A. Lourbakos, N. Yau, P. de Bruijn, M. Hiller, K. Kozaczynska, R. Jean-Baptiste, M. Reza, R. Wolterbeek, Z. Koeks, B. Ayoglu, D. de Klerk, G. Campion, I. Zaharieva, V.D. Nadarajah, P. Nilsson, C. Al-Khalili Szigyarto, F. Muntoni, H. Lochm\u00fcller, J.J. Verschuuren, N. Goemans, M. Tulinius, E.H. Niks, S. de Kimpe, A. Aartsma-Rus, P.A.C. t Hoen, P. Spitali, Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne, Sci Rep 7(1) (2017) 17888.","DOI":"10.1038\/s41598-017-17982-y"},{"issue":"6","key":"10.1016\/j.cca.2023.117691_b0210","doi-asserted-by":"crossref","first-page":"11154","DOI":"10.3390\/molecules200611154","article-title":"Non-invasive biomarkers for duchenne muscular dystrophy and carrier detection","volume":"20","author":"Anaya-Segura","year":"2015","journal-title":"Molecules"},{"issue":"6","key":"10.1016\/j.cca.2023.117691_b0215","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.clinbiochem.2014.01.032","article-title":"Cardiac biomarkers in heart failure","volume":"47","author":"Liquori","year":"2014","journal-title":"Clin. Biochem."},{"issue":"2","key":"10.1016\/j.cca.2023.117691_b0220","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1007\/s00246-001-0040-0","article-title":"Plasma levels of natriuretic peptide and echocardiographic parameters in patients with Duchenne's progressive muscular dystrophy","volume":"23","author":"Mori","year":"2002","journal-title":"Pediatr. Cardiol."},{"issue":"17","key":"10.1016\/j.cca.2023.117691_b0225","doi-asserted-by":"crossref","first-page":"2197","DOI":"10.2169\/internalmedicine.54.3960","article-title":"Markedly high B-type natriuretic peptide level in a patient with duchenne muscular dystrophy and left ventricular non-compaction","volume":"54","author":"Misumi","year":"2015","journal-title":"Intern. Med."},{"issue":"10","key":"10.1016\/j.cca.2023.117691_b0230","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.braindev.2017.05.008","article-title":"Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy","volume":"39","author":"Yamamoto","year":"2017","journal-title":"Brain Dev."},{"issue":"10","key":"10.1016\/j.cca.2023.117691_b0235","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.117.006340","article-title":"Predictors of death in adults with duchenne muscular dystrophy-associated cardiomyopathy","volume":"6","author":"Cheeran","year":"2017","journal-title":"J. Am. Heart Assoc."},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0240","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1186\/s13023-019-1066-9","article-title":"Effect and safety of treatment with ACE-inhibitor Enalapril and \u03b2-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial","volume":"14","author":"Dittrich","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"issue":"8","key":"10.1016\/j.cca.2023.117691_b0245","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1016\/j.braindev.2007.01.009","article-title":"Cardiac troponin I for accurate evaluation of cardiac status in myopathic patients","volume":"29","author":"Matsumura","year":"2007","journal-title":"Brain Dev."},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0250","doi-asserted-by":"crossref","first-page":"307","DOI":"10.3233\/JND-170253","article-title":"Progression of duchenne cardiomyopathy presenting with chest pain and troponin elevation","volume":"4","author":"Hor","year":"2017","journal-title":"J Neuromuscul Dis"},{"issue":"2","key":"10.1016\/j.cca.2023.117691_b0255","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s00392-006-0467-7","article-title":"Positive troponin-T in noncompaction is associated with neuromuscular disorders and poor outcome","volume":"96","author":"Finsterer","year":"2007","journal-title":"Clin. Res. Cardiol."},{"issue":"5","key":"10.1016\/j.cca.2023.117691_b0260","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1111\/jnc.12662","article-title":"Serum miR-206 and other muscle-specific microRNAs as non-invasive biomarkers for Duchenne muscular dystrophy","volume":"129","author":"Hu","year":"2014","journal-title":"J. Neurochem."},{"key":"10.1016\/j.cca.2023.117691_b0265","doi-asserted-by":"crossref","unstructured":"S. Oonk, P. Spitali, M. Hiller, L. Switzar, H. Dalebout, M. Calissano, H. Lochm\u00fcller, A. Aartsma-Rus, P.A. t Hoen, Y.E. van der Burgt, Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients, Proteomics Clin Appl 10(3) (2016) 290-9.","DOI":"10.1002\/prca.201500044"},{"issue":"2","key":"10.1016\/j.cca.2023.117691_b0270","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1007\/s13760-018-01072-5","article-title":"Dynamic thiol\/disulphide homeostasis in children with Duchenne muscular dystrophy","volume":"119","author":"Incecik","year":"2019","journal-title":"Acta Neurol. Belg."},{"issue":"8","key":"10.1016\/j.cca.2023.117691_b0275","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1038\/nbt1235","article-title":"Protein biomarker discovery and validation: the long and uncertain path to clinical utility","volume":"24","author":"Rifai","year":"2006","journal-title":"Nat. Biotechnol."},{"issue":"7","key":"10.1016\/j.cca.2023.117691_b0280","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1016\/j.nmd.2018.03.008","article-title":"High urinary ferritin reflects myoglobin iron evacuation in DMD patients","volume":"28","author":"Rouillon","year":"2018","journal-title":"Neuromuscul. Disord."},{"issue":"9","key":"10.1016\/j.cca.2023.117691_b0285","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1016\/S0891-5849(03)00141-2","article-title":"Patients with dystrophinopathy show evidence of increased oxidative stress","volume":"34","author":"Rodriguez","year":"2003","journal-title":"Free Radic. Biol. Med."},{"issue":"10","key":"10.1016\/j.cca.2023.117691_b0290","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1016\/j.braindev.2018.06.012","article-title":"Urinary prostaglandin metabolites as Duchenne muscular dystrophy progression markers","volume":"40","author":"Takeshita","year":"2018","journal-title":"Brain Dev."},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0295","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/s12968-016-0244-3","article-title":"Identification of cardiomyopathy associated circulating miRNA biomarkers in patients with muscular dystrophy using a complementary cardiovascular magnetic resonance and plasma profiling approach","volume":"18","author":"Becker","year":"2016","journal-title":"J. Cardiovasc. Magn. Reson."},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0300","doi-asserted-by":"crossref","first-page":"e0195850","DOI":"10.1371\/journal.pone.0195850","article-title":"Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy","volume":"13","author":"Beekman","year":"2018","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0305","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1001\/jamaneurol.2013.4908","article-title":"Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping","volume":"71","author":"Anthony","year":"2014","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.cca.2023.117691_b0310","doi-asserted-by":"crossref","first-page":"1906","DOI":"10.1038\/s41598-021-81090-1","article-title":"Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging","volume":"11","author":"Dabaj","year":"2021","journal-title":"Sci. Rep."},{"issue":"11\u201312","key":"10.1016\/j.cca.2023.117691_b0315","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/j.nmd.2007.05.008","article-title":"Low bone mineral density and decreased bone turnover in Duchenne muscular dystrophy","volume":"17","author":"S\u00f6derpalm","year":"2007","journal-title":"Neuromuscul. Disord."},{"issue":"3","key":"10.1016\/j.cca.2023.117691_b0320","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1007\/s40618-021-01676-4","article-title":"Bone health in Duchenne muscular dystrophy: clinical and biochemical correlates","volume":"45","author":"Catalano","year":"2022","journal-title":"J. Endocrinol. Invest."},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0325","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1002\/ana.24599","article-title":"Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort","volume":"79","author":"Willcocks","year":"2016","journal-title":"Ann. Neurol."},{"issue":"10","key":"10.1016\/j.cca.2023.117691_b0330","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1016\/j.nmd.2016.07.013","article-title":"Quantifying disease activity in fatty-infiltrated skeletal muscle by IDEAL-CPMG in Duchenne muscular dystrophy","volume":"26","author":"Mankodi","year":"2016","journal-title":"Neuromuscul. Disord."},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0335","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.nmd.2017.10.003","article-title":"Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: a cross-sectional analysis","volume":"28","author":"Schmidt","year":"2018","journal-title":"Neuromuscul. Disord."},{"issue":"8","key":"10.1016\/j.cca.2023.117691_b0340","doi-asserted-by":"crossref","first-page":"4421","DOI":"10.1007\/s00415-022-11084-0","article-title":"Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab","volume":"269","author":"Sherlock","year":"2022","journal-title":"J. Neurol."},{"issue":"11","key":"10.1016\/j.cca.2023.117691_b0345","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1212\/WNL.0000000000000775","article-title":"Examination of effects of corticosteroids on skeletal muscles of boys with DMD using MRI and MRS","volume":"83","author":"Arpan","year":"2014","journal-title":"Neurology"},{"issue":"6","key":"10.1016\/j.cca.2023.117691_b0350","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1016\/j.amjcard.2012.11.049","article-title":"Utility of transmural myocardial strain profile for prediction of early left ventricular dysfunction in patients with Duchenne muscular dystrophy","volume":"111","author":"Yamamoto","year":"2013","journal-title":"Am. J. Cardiol."},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0355","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s00246-014-0972-9","article-title":"Regional circumferential strain is a biomarker for disease severity in duchenne muscular dystrophy heart disease: a cross-sectional study","volume":"36","author":"Hor","year":"2015","journal-title":"Pediatr. Cardiol."},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0360","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.clinph.2019.01.018","article-title":"Exploring the relationship between electrical impedance myography and quantitative ultrasound parameters in Duchenne muscular dystrophy","volume":"130","author":"Roy","year":"2019","journal-title":"Clin. Neurophysiol."},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0365","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1007\/s00246-015-1331-1","article-title":"Left ventricular tonic contraction as a novel biomarker of cardiomyopathy in duchenne muscular dystrophy","volume":"37","author":"Su","year":"2016","journal-title":"Pediatr. Cardiol."},{"issue":"3","key":"10.1016\/j.cca.2023.117691_b0370","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1016\/j.echo.2018.10.017","article-title":"Speckle-tracking echocardiography in children with duchenne muscular dystrophy: a prospective multicenter controlled cross-sectional study","volume":"32","author":"Amedro","year":"2019","journal-title":"J. Am. Soc. Echocardiogr."},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0375","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s10554-021-02369-y","article-title":"Assessment of left ventricular dyssynchrony by speckle tracking echocardiography in children with duchenne muscular dystrophy","volume":"38","author":"Lanot","year":"2022","journal-title":"Int. J. Cardiovasc. Imaging"},{"issue":"16","key":"10.1016\/j.cca.2023.117691_b0380","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1212\/WNL.0000000000000892","volume":"83","author":"Narayanaswami","year":"2014","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0385","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/mus.26782","article-title":"Emery-Dreifuss muscular dystrophy","volume":"61","author":"Heller","year":"2020","journal-title":"Muscle Nerve"},{"issue":"17","key":"10.1016\/j.cca.2023.117691_b0390","doi-asserted-by":"crossref","DOI":"10.3390\/cells11172687","article-title":"Update on the molecular aspects and methods underlying the complex architecture of FSHD","volume":"11","author":"Caputo","year":"2022","journal-title":"Cells"},{"key":"10.1016\/j.cca.2023.117691_b0395","unstructured":"D. Pasrija, P. Tadi, Congenital Muscular Dystrophy, StatPearls, StatPearls Publishing Copyright \u00a9 2022, StatPearls Publishing LLC., Treasure Island (FL), 2022."},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0400","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","article-title":"Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member","volume":"68","author":"Brook","year":"1992","journal-title":"Cell"},{"issue":"2","key":"10.1016\/j.cca.2023.117691_b0405","first-page":"385","article-title":"Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member","volume":"69","author":"Brook","year":"1992","journal-title":"Cell"},{"issue":"6360","key":"10.1016\/j.cca.2023.117691_b0410","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/355547a0","article-title":"Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy","volume":"355","author":"Buxton","year":"1992","journal-title":"Nature"},{"issue":"5049","key":"10.1016\/j.cca.2023.117691_b0415","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1126\/science.1546326","article-title":"An unstable triplet repeat in a gene related to myotonic muscular dystrophy","volume":"255","author":"Fu","year":"1992","journal-title":"Science"},{"issue":"5049","key":"10.1016\/j.cca.2023.117691_b0420","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1126\/science.1546325","article-title":"Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene","volume":"255","author":"Mahadevan","year":"1992","journal-title":"Science"},{"issue":"2","key":"10.1016\/j.cca.2023.117691_b0425","first-page":"209","article-title":"Proximal myotonial myopathy (PROMM): clinical and histology study","volume":"157","author":"Bassez","year":"2001","journal-title":"Rev. Neurol. (Paris)"},{"issue":"5531","key":"10.1016\/j.cca.2023.117691_b0430","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1126\/science.1062125","article-title":"Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9","volume":"293","author":"Liquori","year":"2001","journal-title":"Science"},{"issue":"11","key":"10.1016\/j.cca.2023.117691_b0435","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1089\/gtmb.2015.0131","article-title":"The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population","volume":"19","author":"Dorobek","year":"2015","journal-title":"Genet. Test. Mol. Biomarkers"},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0440","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1089\/gtmb.2013.0326","article-title":"Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population","volume":"18","author":"El Kerch","year":"2014","journal-title":"Genet. Test. Mol. Biomarkers"},{"issue":"3","key":"10.1016\/j.cca.2023.117691_b0445","doi-asserted-by":"crossref","first-page":"e0174166","DOI":"10.1371\/journal.pone.0174166","article-title":"Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study","volume":"12","author":"Hamilton","year":"2017","journal-title":"PLoS One"},{"issue":"17","key":"10.1016\/j.cca.2023.117691_b0450","doi-asserted-by":"crossref","first-page":"1819","DOI":"10.1016\/j.jacc.2011.08.026","article-title":"Diseased skeletal muscle: a noncardiac source of increased circulating concentrations of cardiac troponin T","volume":"58","author":"Jaffe","year":"2011","journal-title":"J. Am. Coll. Cardiol."},{"issue":"7","key":"10.1016\/j.cca.2023.117691_b0455","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1136\/jcp.54.7.517","article-title":"Paraffin wax embedded muscle is suitable for the diagnosis of muscular dystrophy","volume":"54","author":"Sheriffs","year":"2001","journal-title":"J. Clin. Pathol."},{"issue":"12","key":"10.1016\/j.cca.2023.117691_b0460","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1016\/j.nmd.2006.08.007","article-title":"Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I","volume":"16","author":"Vieira","year":"2006","journal-title":"Neuromuscul. Disord."},{"issue":"6","key":"10.1016\/j.cca.2023.117691_b0465","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/j.braindev.2008.07.012","article-title":"Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy","volume":"31","author":"Yoshioka","year":"2009","journal-title":"Brain Dev."},{"issue":"3","key":"10.1016\/j.cca.2023.117691_b0470","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1536\/ihj.15-461","article-title":"Utility of cystatin C for estimating glomerular filtration rate in patients with muscular dystrophy","volume":"57","author":"Kimura","year":"2016","journal-title":"Int. Heart J."},{"issue":"7","key":"10.1016\/j.cca.2023.117691_b0475","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.2310\/JIM.0b013e31822cf97a","article-title":"P-wave duration and dispersion in patients with Emery-Dreifuss muscular dystrophy","volume":"59","author":"Russo","year":"2011","journal-title":"J. Invest. Med."},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0480","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"},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0485","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1007\/s10072-017-2811-2","article-title":"Micro-RNA expression in muscle and fiber morphometry in myotonic dystrophy type 1","volume":"38","author":"Fritegotto","year":"2017","journal-title":"Neurol. Sci."},{"key":"10.1016\/j.cca.2023.117691_b0490","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."},{"issue":"6","key":"10.1016\/j.cca.2023.117691_b0495","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."},{"issue":"7\u20138","key":"10.1016\/j.cca.2023.117691_b0500","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1016\/S0960-8966(03)00091-9","article-title":"Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype","volume":"13","author":"Mercuri","year":"2003","journal-title":"Neuromuscul. Disord."},{"issue":"8","key":"10.1016\/j.cca.2023.117691_b0505","doi-asserted-by":"crossref","first-page":"658","DOI":"10.3109\/00365513.2011.619272","article-title":"Osteopontin\u2013a fibrosis-related marker\u2013in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy","volume":"71","author":"Niebroj-Dobosz","year":"2011","journal-title":"Scand. J. Clin. Lab. Invest."},{"issue":"5","key":"10.1016\/j.cca.2023.117691_b0510","doi-asserted-by":"crossref","first-page":"360","DOI":"10.5603\/KP.a2014.0243","article-title":"Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy","volume":"73","author":"Niebroj-Dobosz","year":"2015","journal-title":"Kardiol. Pol."},{"key":"10.1016\/j.cca.2023.117691_b0515","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.cca.2016.10.026","article-title":"High-sensitive cardiac troponin T (hs-cTnT) assay as serum biomarker to predict cardiac risk in myotonic dystrophy: A case-control study","volume":"463","author":"Valaperta","year":"2016","journal-title":"Clin. Chim. Acta"},{"issue":"12","key":"10.1016\/j.cca.2023.117691_b0520","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1212\/01.wnl.0000268489.60809.c4","article-title":"New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation","volume":"69","author":"Yanagisawa","year":"2007","journal-title":"Neurology"},{"issue":"5","key":"10.1016\/j.cca.2023.117691_b0525","doi-asserted-by":"crossref","first-page":"3034","DOI":"10.1111\/jcmm.14939","article-title":"Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients","volume":"24","author":"Faravelli","year":"2020","journal-title":"J. Cell Mol. Med."},{"key":"10.1016\/j.cca.2023.117691_b0530","doi-asserted-by":"crossref","first-page":"783","DOI":"10.3389\/fneur.2020.00783","article-title":"Editorial: spinal muscular atrophy: evolutions and revolutions of modern therapy","volume":"11","author":"Finkel","year":"2020","journal-title":"Front. Neurol."},{"key":"10.1016\/j.cca.2023.117691_b0535","first-page":"39","article-title":"Advances in newborn screening and presymptomatic diagnosis of spinal muscular atrophy","volume":"10","author":"J\u0119drzejowska","year":"2020","journal-title":"Degener Neurol Neuromuscul Dis"},{"key":"10.1016\/j.cca.2023.117691_b0540","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ejpn.2020.11.004","article-title":"Children and young adults with spinal muscular atrophy treated with nusinersen","volume":"30","author":"Osredkar","year":"2021","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0545","doi-asserted-by":"crossref","first-page":"24","DOI":"10.3390\/ijms12010024","article-title":"Biomarkers in rare disorders: the experience with spinal muscular atrophy","volume":"12","author":"Tiziano","year":"2010","journal-title":"Int. J. Mol. Sci."},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0550","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/acn3.689","article-title":"Novel challenges in spinal muscular atrophy \u2013 how to screen and whom to treat?","volume":"6","author":"Saffari","year":"2019","journal-title":"Ann. Clin. Transl. Neurol."},{"issue":"3","key":"10.1016\/j.cca.2023.117691_b0555","doi-asserted-by":"crossref","DOI":"10.3390\/jpm10030075","article-title":"The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment","volume":"10","author":"Smeriglio","year":"2020","journal-title":"J Pers Med"},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0560","doi-asserted-by":"crossref","first-page":"e33572","DOI":"10.1371\/journal.pone.0033572","article-title":"Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study","volume":"7","author":"Crawford","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.cca.2023.117691_b0565","doi-asserted-by":"crossref","first-page":"898","DOI":"10.3389\/fneur.2019.00898","article-title":"Biomarkers and the development of a personalized medicine approach in spinal muscular atrophy","volume":"10","author":"Kariyawasam","year":"2019","journal-title":"Front. Neurol."},{"issue":"10","key":"10.1016\/j.cca.2023.117691_b0570","doi-asserted-by":"crossref","first-page":"e0139950","DOI":"10.1371\/journal.pone.0139950","article-title":"Biomarker for spinal muscular atrophy: expression of SMN in peripheral blood of SMA patients and healthy controls","volume":"10","author":"Czech","year":"2015","journal-title":"PLoS One"},{"issue":"5","key":"10.1016\/j.cca.2023.117691_b0575","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1002\/acn3.779","article-title":"Neurofilament as a potential biomarker for spinal muscular atrophy","volume":"6","author":"Darras","year":"2019","journal-title":"Ann. Clin. Transl. Neurol."},{"issue":"9","key":"10.1016\/j.cca.2023.117691_b0580","doi-asserted-by":"crossref","first-page":"e921","DOI":"10.1212\/WNL.0000000000008762","article-title":"Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy","volume":"94","author":"Alves","year":"2020","journal-title":"Neurology"},{"issue":"5","key":"10.1016\/j.cca.2023.117691_b0585","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1002\/acn3.51340","article-title":"Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment","volume":"8","author":"Freigang","year":"2021","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.cca.2023.117691_b0590","doi-asserted-by":"crossref","unstructured":"S. Pandey, B. Singh, S.K. Yadav, A.A. Mahdi, Novel biomarker for neurodegenerative diseases- motor neuron disease (MND), cerebellar ataxia (CA) and Parkinson's disease (PD), Clin Chim Acta 485 (2018) 258-261.","DOI":"10.1016\/j.cca.2018.07.021"},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0595","doi-asserted-by":"crossref","first-page":"e60113","DOI":"10.1371\/journal.pone.0060113","article-title":"SMA-MAP: a plasma protein panel for spinal muscular atrophy","volume":"8","author":"Kobayashi","year":"2013","journal-title":"PLoS One"},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0600","doi-asserted-by":"crossref","first-page":"e35462","DOI":"10.1371\/journal.pone.0035462","article-title":"Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study","volume":"7","author":"Finkel","year":"2012","journal-title":"PLoS One"},{"issue":"12","key":"10.1016\/j.cca.2023.117691_b0605","doi-asserted-by":"crossref","DOI":"10.3390\/nu12123842","article-title":"Metabolic and nutritional issues associated with spinal muscular atrophy","volume":"12","author":"Li","year":"2020","journal-title":"Nutrients"},{"issue":"5","key":"10.1016\/j.cca.2023.117691_b0610","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1111\/jnc.14953","article-title":"Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy","volume":"153","author":"Kessler","year":"2020","journal-title":"J. Neurochem."},{"issue":"9","key":"10.1016\/j.cca.2023.117691_b0615","first-page":"598","article-title":"Do perineuronal net elements contribute to pathophysiology of spinal muscular atrophy?","volume":"22","author":"Dayangac-Erden","year":"2018","journal-title":"In Vitro and Transcriptomics Insights, Omics"},{"issue":"3","key":"10.1016\/j.cca.2023.117691_b0620","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.ajhg.2016.07.014","article-title":"The power of human protective modifiers: PLS3 and coro1c unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype","volume":"99","author":"Hosseinibarkooie","year":"2016","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.cca.2023.117691_b0625","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.ajhg.2017.01.005","article-title":"Neurocalcin delta suppression protects against spinal muscular atrophy in humans and across species by restoring impaired endocytosis","volume":"100","author":"Riessland","year":"2017","journal-title":"Am. J. Hum. Genet."},{"issue":"7","key":"10.1016\/j.cca.2023.117691_b0630","doi-asserted-by":"crossref","first-page":"e0132364","DOI":"10.1371\/journal.pone.0132364","article-title":"Plastin 3 expression does not modify spinal muscular atrophy severity in the \u03947 SMA mouse","volume":"10","author":"McGovern","year":"2015","journal-title":"PLoS One"},{"issue":"2","key":"10.1016\/j.cca.2023.117691_b0635","doi-asserted-by":"crossref","first-page":"151","DOI":"10.2217\/bmm-2016-0242","article-title":"miRNAs as biomarkers of neurodegenerative disorders","volume":"11","author":"Viswambharan","year":"2017","journal-title":"Biomark. Med."},{"issue":"2","key":"10.1016\/j.cca.2023.117691_b0640","doi-asserted-by":"crossref","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"},{"issue":"5","key":"10.1016\/j.cca.2023.117691_b0645","doi-asserted-by":"crossref","DOI":"10.3390\/jpm12050758","article-title":"The advent of omics sciences in clinical trials of motor neuron diseases","volume":"12","author":"Ruffo","year":"2022","journal-title":"J Pers Med"},{"key":"10.1016\/j.cca.2023.117691_b0650","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.pediatrneurol.2019.05.005","article-title":"Impact of age and motor function in a phase 1\/2A study of infants with SMA type 1 receiving single-dose gene replacement therapy","volume":"98","author":"Lowes","year":"2019","journal-title":"Pediatr. Neurol."},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0655","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/S1474-4422(21)00001-6","article-title":"Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial","volume":"20","author":"Day","year":"2021","journal-title":"Lancet Neurol."},{"issue":"10","key":"10.1016\/j.cca.2023.117691_b0660","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1016\/S1474-4422(21)00251-9","article-title":"Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial","volume":"20","author":"Mercuri","year":"2021","journal-title":"Lancet Neurol."},{"issue":"6","key":"10.1016\/j.cca.2023.117691_b0665","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1358\/dot.2021.57.6.3264117","article-title":"Onasemnogene abeparvovec-xioi: a gene replacement strategy for the treatment of infants diagnosed with spinal muscular atrophy","volume":"57","author":"Schwartz","year":"2021","journal-title":"Drugs Today (Barc)"},{"issue":"6","key":"10.1016\/j.cca.2023.117691_b0670","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1002\/ana.25101","article-title":"Natural history of infantile-onset spinal muscular atrophy","volume":"82","author":"Kolb","year":"2017","journal-title":"Ann. Neurol."},{"issue":"7","key":"10.1016\/j.cca.2023.117691_b0675","doi-asserted-by":"crossref","first-page":"e0201004","DOI":"10.1371\/journal.pone.0201004","article-title":"Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study","volume":"13","author":"Chabanon","year":"2018","journal-title":"PLoS One"},{"issue":"2","key":"10.1016\/j.cca.2023.117691_b0680","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.nmd.2015.10.006","article-title":"Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials","volume":"26","author":"Mercuri","year":"2016","journal-title":"Neuromuscul. Disord."},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0685","doi-asserted-by":"crossref","first-page":"e0170472","DOI":"10.1371\/journal.pone.0170472","article-title":"Feasibility of using microsoft kinect to assess upper limb movement in Type III spinal muscular atrophy patients","volume":"12","author":"Chen","year":"2017","journal-title":"PLoS One"},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0690","doi-asserted-by":"crossref","first-page":"e0121799","DOI":"10.1371\/journal.pone.0121799","article-title":"Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial","volume":"10","author":"Seferian","year":"2015","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.cca.2023.117691_b0695","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1002\/mus.24557","article-title":"Reliability and validity of active-seated: An outcome in dystrophinopathy","volume":"52","author":"Lowes","year":"2015","journal-title":"Muscle Nerve"},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0700","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1002\/mus.26823","article-title":"Evaluation of body composition as a potential biomarker in spinal muscular atrophy","volume":"61","author":"Baranello","year":"2020","journal-title":"Muscle Nerve"},{"issue":"11","key":"10.1016\/j.cca.2023.117691_b0705","doi-asserted-by":"crossref","first-page":"2333","DOI":"10.1016\/j.clinph.2018.08.025","article-title":"The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophy","volume":"129","author":"Querin","year":"2018","journal-title":"Clin. Neurophysiol."},{"issue":"2","key":"10.1016\/j.cca.2023.117691_b0710","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.clinph.2018.11.009","article-title":"Motor Unit Number Index (MUNIX) of hand muscles is a disease biomarker for adult spinal muscular atrophy","volume":"130","author":"G\u00fcnther","year":"2019","journal-title":"Clin. Neurophysiol."},{"issue":"18","key":"10.1016\/j.cca.2023.117691_b0715","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1212\/WNL.0b013e318271f7e4","article-title":"Prospective cohort study of spinal muscular atrophy types 2 and 3","volume":"79","author":"Kaufmann","year":"2012","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0720","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1136\/jnnp-2020-324254","article-title":"Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen","volume":"92","author":"Kariyawasam","year":"2020","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0725","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1212\/WNL.0b013e3182604395","article-title":"Machine learning algorithms to classify spinal muscular atrophy subtypes","volume":"79","author":"Srivastava","year":"2012","journal-title":"Neurology"},{"issue":"7","key":"10.1016\/j.cca.2023.117691_b0730","doi-asserted-by":"crossref","first-page":"e653","DOI":"10.1212\/WNL.0000000000007945","article-title":"Quantitative MR neurography biomarkers in 5q-linked spinal muscular atrophy","volume":"93","author":"Kollmer","year":"2019","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0735","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/ene.14528","article-title":"Magnetization transfer ratio: a quantitative imaging biomarker for 5q spinal muscular atrophy","volume":"28","author":"Kollmer","year":"2021","journal-title":"Eur. J. Neurol."},{"issue":"8","key":"10.1016\/j.cca.2023.117691_b0740","doi-asserted-by":"crossref","first-page":"e0201764","DOI":"10.1371\/journal.pone.0201764","article-title":"A new biomarker candidate for spinal muscular atrophy: Identification of a peripheral blood cell population capable of monitoring the level of survival motor neuron protein","volume":"13","author":"Otsuki","year":"2018","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0745","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/s12968-015-0145-x","article-title":"Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy","volume":"17","author":"Florian","year":"2015","journal-title":"J. Cardiovasc. Magn. Reson."},{"issue":"7","key":"10.1016\/j.cca.2023.117691_b0750","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1002\/acn3.50800","article-title":"Identification of serum microRNAs as potential biomarkers in Pompe disease","volume":"6","author":"Carrasco-Rozas","year":"2019","journal-title":"Ann. Clin. Transl. Neurol."},{"issue":"8","key":"10.1016\/j.cca.2023.117691_b0755","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"},{"issue":"9","key":"10.1016\/j.cca.2023.117691_b0760","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1038\/nrn1196","article-title":"Disease mechanisms in inherited neuropathies","volume":"4","author":"Suter","year":"2003","journal-title":"Nat. Rev. Neurosci."},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0765","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/j.bbadis.2014.07.031","article-title":"Hereditary motor and sensory neuropathies: understanding molecular pathogenesis could lead to future treatment strategies","volume":"1852","author":"Jerath","year":"2015","journal-title":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0770","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1002\/mus.24336","article-title":"Natural history and biomarkers in hereditary sensory neuropathy type 1","volume":"51","author":"Fridman","year":"2015","journal-title":"Muscle Nerve"},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0775","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1002\/ana.24612","article-title":"Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2","volume":"79","author":"Higuchi","year":"2016","journal-title":"Ann. Neurol."},{"issue":"4","key":"10.1016\/j.cca.2023.117691_b0780","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1002\/ana.24611","article-title":"Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients","volume":"79","author":"Sch\u00fcle","year":"2016","journal-title":"Ann. Neurol."},{"issue":"6","key":"10.1016\/j.cca.2023.117691_b0785","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1111\/j.1399-0004.2010.01501.x","article-title":"Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia","volume":"79","author":"McCorquodale","year":"2011","journal-title":"Clin. Genet."},{"issue":"8","key":"10.1016\/j.cca.2023.117691_b0790","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1007\/s00415-009-5109-3","article-title":"Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study","volume":"256","author":"Criscuolo","year":"2009","journal-title":"J. Neurol."},{"issue":"1","key":"10.1016\/j.cca.2023.117691_b0795","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.cell.2018.08.065","article-title":"Multi-level proteomics identifies CT45 as a chemosensitivity mediator and immunotherapy target in ovarian cancer","volume":"175","author":"Coscia","year":"2018","journal-title":"Cell"},{"issue":"2","key":"10.1016\/j.cca.2023.117691_b0800","doi-asserted-by":"crossref","first-page":"1800113","DOI":"10.1002\/prca.201800113","article-title":"The case for proteomics and phospho-proteomics in personalized cancer medicine","volume":"13","author":"Doll","year":"2019","journal-title":"Proteomics\u2013clinical Applications"},{"issue":"8","key":"10.1016\/j.cca.2023.117691_b0805","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1002\/1878-0261.12326","article-title":"Rapid proteomic analysis for solid tumors reveals LSD 1 as a drug target in an end-stage cancer patient","volume":"12","author":"Doll","year":"2018","journal-title":"Mol. Oncol."},{"issue":"9","key":"10.1016\/j.cca.2023.117691_b0810","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1161\/CIRCRESAHA.117.310782","article-title":"Emerging role of precision medicine in cardiovascular disease","volume":"122","author":"Leopold","year":"2018","journal-title":"Circ. Res."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000989812300493X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000989812300493X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T15:11:22Z","timestamp":1757862682000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000989812300493X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":162,"alternative-id":["S000989812300493X"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2023.117691","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2024,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neuromuscular disorders in the omics era","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2023.117691","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"117691"}}