{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T09:24:06Z","timestamp":1775726646326,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:00:00Z","timestamp":1769558400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:00:00Z","timestamp":1769558400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100002160","name":"Jain Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002160","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology Appl Neurobio"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>\n                      Dysferlin, a 237\u2010kDa protein crucial for muscle function, is deficient in dysferlinopathy, a rare form of muscular dystrophy caused by recessive mutations in the\n                      <jats:italic>DYSF<\/jats:italic>\n                      gene. While genetic analysis is the primary diagnostic approach, protein\u2010based studies remain essential for confirming pathogenicity, particularly for variants of uncertain significance. This study aims to validate an immunohistochemical assay for dysferlin detection in neutrophils from peripheral blood films (PBF) and to evaluate how different storage conditions affect its performance, with particular focus on refining variables that may affect assay reliability and reproducibility.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed a follow\u2010up assessment of a new immunoassay to detect dysferlin expression in neutrophils from PBFs, using samples from genetically confirmed dysferlinopathy patients and healthy controls in an Indian cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The assay exhibited very high sensitivity, but its specificity was affected by sample quality and storage conditions. Protein degradation occurred in samples stored at room temperature in environments exceeding 30\u00b0C, while storage at 4\u00b0C preserved dysferlin immunoreactivity for up to 20\u2009weeks.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The PBF\u2010based dysferlin assay is a rapid, cost\u2010effective and minimally invasive screening tool, well\u2010suited for use in resource\u2010limited settings. It provides a viable approach for initial screening and variant assessment. As the assay's reliability is influenced by sample quality and storage conditions, proper training in collection techniques and strict adherence to storage protocols are essential for ensuring diagnostic accuracy and enabling broader clinical application.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/nan.70060","type":"journal-article","created":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T01:15:22Z","timestamp":1769649322000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Enhancing the Performance of a Blood\u2010Based Diagnostic Screening Tool for Dysferlinopathy: Optimising an Immunoassay Across Continents"],"prefix":"10.1111","volume":"52","author":[{"given":"G.","family":"D'Este","sequence":"first","affiliation":[{"name":"Neurobiology Laboratory IRCCS San Camillo Hospital  Venice Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Cox","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Faculty of Medical Sciences, Translational &amp; Clinical Research Institute Newcastle University  Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Maistrello","sequence":"additional","affiliation":[{"name":"IRCCS San Camillo Hospital  Venice Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.\u00a0S.","family":"Emmons","sequence":"additional","affiliation":[{"name":"Jain Foundation  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Gaitonde","sequence":"additional","affiliation":[{"name":"Centre for Advanced Molecular Diagnostics in Neuromuscular Disorders (CAMDND)  Mumbai 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