{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T18:54:48Z","timestamp":1787684088293,"version":"build-2784847793"},"reference-count":30,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T00:00:00Z","timestamp":1753142400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009594","name":"University of P\u00e9cs","doi-asserted-by":"publisher","award":["AOK-KA 2018\/12"],"award-info":[{"award-number":["AOK-KA 2018\/12"]}],"id":[{"id":"10.13039\/501100009594","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology International"],"abstract":"<jats:p>Background: Spinal muscular atrophy (SMA) is a treatable motor neuron disease. Biomarkers for skeletal muscle atrophy are extremely important for measuring the effects of treatment and monitoring the natural course of the disease. The urinary titin N fragment (UNT) has recently been proven to be related to muscle damage. Methods: The UNT was measured in 41 patients with SMA and 41 healthy controls. Clinical data, functional tests, and laboratory findings were also recorded. Results: We found significantly higher UNT levels in the patient samples than in the healthy subjects. The UNT was not related to disease type, functional test results, or serum creatine kinase levels. Conclusions: This cross-sectional study highlights the importance of the UNT as a potential noninvasive biomarker for spinal muscular atrophy. Its role can potentially be verified through longitudinal studies.<\/jats:p>","DOI":"10.3390\/neurolint17080114","type":"journal-article","created":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T08:45:18Z","timestamp":1753173918000},"page":"114","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Elevated Urinary Titin in Adult Spinal Muscular Atrophy: A Multicenter, Cross-Sectional Observational Study"],"prefix":"10.3390","volume":"17","author":[{"given":"Andrea","family":"Sipos","sequence":"first","affiliation":[{"name":"Department of Neurology, Medical School, University of P\u00e9cs, 7623 P\u00e9cs, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emese Rebeka","family":"Ripsz\u00e1m","sequence":"additional","affiliation":[{"name":"Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judit M\u00e1ria","family":"Moln\u00e1r","sequence":"additional","affiliation":[{"name":"Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zolt\u00e1n","family":"Grosz","sequence":"additional","affiliation":[{"name":"Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4899-5767","authenticated-orcid":false,"given":"Judit","family":"Bocz\u00e1n","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melinda Borb\u00e1la","family":"Altorjay","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Livia","family":"D\u00e9zsi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Albert Szent-Gy\u00f6rgyi Health Centre, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anett","family":"Cs\u00e1ti","sequence":"additional","affiliation":[{"name":"Department of Neurology, Albert Szent-Gy\u00f6rgyi Health Centre, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krist\u00f3f","family":"Babarczy","sequence":"additional","affiliation":[{"name":"Department of Neurology, Albert Szent-Gy\u00f6rgyi Health Centre, University of Szeged, 6725 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Kov\u00e1cs","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical School, University of P\u00e9cs, 7623 P\u00e9cs, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4012-4932","authenticated-orcid":false,"given":"N\u00e1ndor","family":"Hajd\u00fa","sequence":"additional","affiliation":[{"name":"Institute of Psychology, E\u00f6tv\u00f6s Lor\u00e1nd University, 1064 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6525-0754","authenticated-orcid":false,"given":"Endre","family":"P\u00e1l","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical School, University of P\u00e9cs, 7623 P\u00e9cs, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1007\/s13311-014-0314-x","article-title":"The genetics of spinal muscular atrophy: Progress and challenges","volume":"12","author":"Farrar","year":"2015","journal-title":"Neurotherapeutics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1136\/jmg.15.6.409","article-title":"Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy","volume":"15","author":"Pearn","year":"1978","journal-title":"J. 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