{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T09:23:54Z","timestamp":1789982634257,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,5,3]],"date-time":"2016-05-03T00:00:00Z","timestamp":1462233600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007393","name":"Association Fran\u00e7aise contre les Myopathies","doi-asserted-by":"publisher","award":["18722"],"award-info":[{"award-number":["18722"]}],"id":[{"id":"10.13039\/100007393","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Disease severity varies considerably among patients with Spinal and Bulbar Muscular Atrophy (<jats:styled-content style=\"fixed-case\">SBMA<\/jats:styled-content>). Our aim was to investigate the role of androgen receptor (<jats:italic>AR<\/jats:italic>) polymorphic repeats in SBMA phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyzed the length of <jats:italic><jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content><\/jats:italic> polyQ and polyG tracts in 159 <jats:styled-content style=\"fixed-case\">SBMA<\/jats:styled-content> patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No relationship between polyG size or polyG\/polyQ haplotypes and clinical phenotype was found. An independent negative correlation between polyQ\u2010length and onset of weakness was confirmed (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The negative results of our study prompt to continue the search for potential disease modifiers in <jats:styled-content style=\"fixed-case\">SBMA<\/jats:styled-content> outside the <jats:italic><jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content><\/jats:italic> gene.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.13001","type":"journal-article","created":{"date-parts":[[2016,5,4]],"date-time":"2016-05-04T12:59:37Z","timestamp":1462366777000},"page":"1134-1136","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["No effect of <i><scp>AR<\/scp><\/i> polyG polymorphism on spinal and bulbar muscular atrophy phenotype"],"prefix":"10.1111","volume":"23","author":[{"given":"C.","family":"Bertolin","sequence":"first","affiliation":[{"name":"Neuromuscular Center Department of Neurosciences University of Padova Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Querin","sequence":"additional","affiliation":[{"name":"Neuromuscular Center Department of Neurosciences University of Padova Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Da Re","sequence":"additional","affiliation":[{"name":"Neuromuscular Center Department of Neurosciences University of Padova Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Sagnelli","sequence":"additional","affiliation":[{"name":"Clinic of Central and Peripheral Degenerative Neuropathies Unit Department of Clinical Neurosciences \u2013 IRCCS Foundation \u2018C. Besta\u2019 Neurological Institute Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Bello","sequence":"additional","affiliation":[{"name":"Neuromuscular Center Department of Neurosciences University of Padova Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Cao","sequence":"additional","affiliation":[{"name":"Neuromuscular Center Department of Neurosciences University of Padova Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Muscas","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases UCL Institute of Neurology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Pennuto","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases UCL Institute of Neurology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Ermani","sequence":"additional","affiliation":[{"name":"Neuromuscular Center Department of Neurosciences University of Padova Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Pegoraro","sequence":"additional","affiliation":[{"name":"Neuromuscular Center Department of Neurosciences University of Padova Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Mariotti","sequence":"additional","affiliation":[{"name":"Clinic of Central and Peripheral Degenerative Neuropathies Unit Department of Clinical Neurosciences \u2013 IRCCS Foundation \u2018C. 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