{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T02:19:02Z","timestamp":1790475542358,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,7,2]],"date-time":"2020-07-02T00:00:00Z","timestamp":1593648000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005614","name":"Biogen","doi-asserted-by":"publisher","award":["Biogen"],"award-info":[{"award-number":["Biogen"]}],"id":[{"id":"10.13039\/100005614","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007721","name":"Cure SMA","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007721","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007721","name":"Cure SMA","doi-asserted-by":"publisher","award":["Cure SMA"],"award-info":[{"award-number":["Cure SMA"]}],"id":[{"id":"10.13039\/100007721","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>We sought to determine whether survival motor neuron (SMN) protein blood levels correlate with denervation and <jats:italic>SMN2<\/jats:italic> copies in spinal muscular atrophy (SMA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using a mixed\u2010effect model, we tested associations between SMN levels, compound muscle action potential (CMAP), and <jats:italic>SMN2<\/jats:italic> copies in a cohort of 74 patients with SMA. We analyzed a subset of 19 of these patients plus four additional patients who had been treated with received gene therapy to examine SMN trajectories early in life.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients with SMA who had lower CMAP values had lower circulating SMN levels (<jats:italic>P\u2009=<\/jats:italic> .04). Survival motor neuron protein levels were different between patients with two and three <jats:italic>SMN2<\/jats:italic> copies (<jats:italic>P\u2009&lt;<\/jats:italic> .0001) and between symptomatic and presymptomatic patients (<jats:italic>P\u2009&lt;<\/jats:italic> .0001), with the highest levels after birth and progressive decline over the first 3\u2009years. Neither nusinersen nor gene therapy clearly altered SMN levels.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>These data provide evidence that whole blood SMN levels correlate with <jats:italic>SMN2<\/jats:italic> copy number and severity of denervation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.26995","type":"journal-article","created":{"date-parts":[[2020,6,8]],"date-time":"2020-06-08T17:13:45Z","timestamp":1591636425000},"page":"351-357","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Whole blood survival motor neuron protein levels correlate with severity of denervation in spinal muscular atrophy"],"prefix":"10.1002","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2646-9689","authenticated-orcid":false,"given":"Christiano R. R.","family":"Alves","sequence":"first","affiliation":[{"name":"Department of Neurology, Center for Genomic Medicine Massachusetts General Hospital  Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Center for Genomic Medicine Massachusetts General Hospital  Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alec J.","family":"Johnstone","sequence":"additional","affiliation":[{"name":"Department of Neurology, Center for Genomic Medicine Massachusetts General Hospital  Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reid","family":"Garner","sequence":"additional","affiliation":[{"name":"Department of Neurology, Center for Genomic Medicine Massachusetts General Hospital  Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3418-6141","authenticated-orcid":false,"given":"Eric J.","family":"Eichelberger","sequence":"additional","affiliation":[{"name":"Department of Neurology, Center for Genomic Medicine Massachusetts General Hospital  Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9283-6777","authenticated-orcid":false,"given":"Salom\u00e9 Da Silva Duarte","family":"Lepez","sequence":"additional","affiliation":[{"name":"Department of Neurology, Center for Genomic Medicine Massachusetts General Hospital  Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivian","family":"Yi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Center for Genomic Medicine Massachusetts General Hospital  Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Stevens","sequence":"additional","affiliation":[{"name":"Department of Neurology, Center for Genomic Medicine Massachusetts General Hospital  Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebekah","family":"Poxson","sequence":"additional","affiliation":[{"name":"PharmOptima  Portage, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Schwartz","sequence":"additional","affiliation":[{"name":"PharmOptima  Portage, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip","family":"Zaworski","sequence":"additional","affiliation":[{"name":"PharmOptima  Portage, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4593-6342","authenticated-orcid":false,"given":"Kathryn J.","family":"Swoboda","sequence":"additional","affiliation":[{"name":"Department of Neurology, Center for Genomic Medicine Massachusetts General Hospital  Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200201000-00004"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/338627"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0033572"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0150640"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4508"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx215"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1706198"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.06.412"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21838"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.002"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/jomf.12144"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.09.007"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.779"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI124120"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcibr1409795"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000353"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0035462"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000008762"}],"container-title":["Muscle &amp; 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