{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T21:54:06Z","timestamp":1778882046500,"version":"3.51.4"},"reference-count":22,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2020,8]]},"DOI":"10.1016\/j.nmd.2020.05.006","type":"journal-article","created":{"date-parts":[[2020,5,26]],"date-time":"2020-05-26T11:38:33Z","timestamp":1590493113000},"page":"685-692","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["Transportin 3 (TNPO3) and related proteins in limb girdle muscular dystrophy D2 muscle biopsies: A morphological study and pathogenetic hypothesis"],"prefix":"10.1016","volume":"30","author":[{"given":"Roberta","family":"Costa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Teresa","family":"Rodia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Vianello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Spartaco","family":"Santi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Lattanzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corrado","family":"Angelini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Pegoraro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Cenacchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.nmd.2020.05.006_bib0001","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1097\/WCO.0b013e32834aa38d","article-title":"Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches","volume":"24","author":"Nigro","year":"2011","journal-title":"Curr Opin Neurol"},{"issue":"8","key":"10.1016\/j.nmd.2020.05.006_bib0002","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1016\/j.nmd.2018.05.007","article-title":"229th ENMC international workshop: limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017","volume":"28","author":"Straub","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"4","key":"10.1016\/j.nmd.2020.05.006_bib0003","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1212\/WNL.56.4.450","article-title":"Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation","volume":"56","author":"Gamez","year":"2001","journal-title":"Neurology"},{"issue":"8","key":"10.1016\/j.nmd.2020.05.006_bib0004","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1007\/s00415-013-6931-1","article-title":"Clinical phenotype, muscle MRI and muscle pathology of LGMD1F","volume":"260","author":"Peterle","year":"2013","journal-title":"J Neurol"},{"issue":"5","key":"10.1016\/j.nmd.2020.05.006_bib0005","doi-asserted-by":"crossref","first-page":"e63536","DOI":"10.1371\/journal.pone.0063536","article-title":"Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F","volume":"8","author":"Torella","year":"2013","journal-title":"PLoS One"},{"issue":"Pt 5","key":"10.1016\/j.nmd.2020.05.006_bib0006","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1093\/brain\/awt074","article-title":"Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene","volume":"136","author":"Meli\u00e0","year":"2013","journal-title":"Brain"},{"issue":"3","key":"10.1016\/j.nmd.2020.05.006_bib0007","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1111\/neup.12003","article-title":"Ultrastructural changes in LGMD1F","volume":"33","author":"Cenacchi","year":"2013","journal-title":"Neuropathology"},{"issue":"7","key":"10.1016\/j.nmd.2020.05.006_bib0008","doi-asserted-by":"crossref","first-page":"2728","DOI":"10.1073\/pnas.1320755111","article-title":"Structural basis for nuclear import of splicing factors by human Transportin 3","volume":"111","author":"Maertens","year":"2014","journal-title":"Proc Natl Acad Sci USA"},{"issue":"18","key":"10.1016\/j.nmd.2020.05.006_bib0009","doi-asserted-by":"crossref","first-page":"10154","DOI":"10.1073\/pnas.181354098","article-title":"Transportin-SR2 mediates nuclear import of phosphorylated SR proteins","volume":"98","author":"Lai","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"issue":"11","key":"10.1016\/j.nmd.2020.05.006_bib0010","doi-asserted-by":"crossref","first-page":"7950","DOI":"10.1074\/jbc.275.11.7950","article-title":"A human importin-beta family protein, transportin-SR2, interacts with the phosphorylated RS domain of SR proteins","volume":"275","author":"Lai","year":"2000","journal-title":"J Biol Chem"},{"issue":"22","key":"10.1016\/j.nmd.2020.05.006_bib0011","doi-asserted-by":"crossref","first-page":"3489","DOI":"10.1093\/bioinformatics\/btw508","article-title":"NET-GE: a web-server for NETwork-based human gene enrichment","volume":"32","author":"Bovo","year":"2016","journal-title":"Bioinformatics"},{"key":"10.1016\/j.nmd.2020.05.006_bib0012","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1186\/1471-2164-12-121","article-title":"TRAM (Transcriptome Mapper): database-driven creation and analysis of transcriptome maps from multiple sources","volume":"12","author":"Lenzi","year":"2011","journal-title":"BMC Genomics"},{"issue":"3","key":"10.1016\/j.nmd.2020.05.006_bib0013","doi-asserted-by":"crossref","first-page":"2397","DOI":"10.3892\/mmr.2017.6944","article-title":"Systematic identification of human housekeeping genes possibly useful as references in gene expression studies","volume":"16","author":"Caracausi","year":"2017","journal-title":"Mol Med Rep"},{"key":"10.1016\/j.nmd.2020.05.006_bib0014","doi-asserted-by":"crossref","first-page":"54","DOI":"10.3389\/fphys.2012.00054","article-title":"The Splicing Factor SRSF1 as a Marker for Endothelial Senescence","volume":"3","author":"Blanco","year":"2012","journal-title":"Front Physiol"},{"issue":"5","key":"10.1016\/j.nmd.2020.05.006_bib0015","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1111\/acel.12646","article-title":"The emerging role of alternative splicing in senescence and aging","volume":"16","author":"Desch\u00eanes","year":"2017","journal-title":"Aging Cell"},{"key":"10.1016\/j.nmd.2020.05.006_bib0016","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1177\/1756286419850433","article-title":"A new family with transportinopathy: increased clinical heterogeneity","volume":"12","author":"Angelini","year":"2019","journal-title":"Ther Adv Neurol Disord"},{"issue":"7","key":"10.1016\/j.nmd.2020.05.006_bib0017","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2019.05.001","article-title":"A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F","volume":"62","author":"P\u00e1l","year":"2019","journal-title":"Eur J Med Genet"},{"issue":"3","key":"10.1016\/j.nmd.2020.05.006_bib0018","doi-asserted-by":"crossref","first-page":"e337","DOI":"10.1212\/NXG.0000000000000337","article-title":"Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression","volume":"5","author":"Vihola","year":"2019","journal-title":"Neurol Genet"},{"issue":"1","key":"10.1016\/j.nmd.2020.05.006_bib0019","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1186\/s40478-018-0648-4","article-title":"Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient","volume":"6","author":"Gibertini","year":"2018","journal-title":"Acta Neuropathol Commun"},{"issue":"Pt 5","key":"10.1016\/j.nmd.2020.05.006_bib0020","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1042\/BST0340701","article-title":"Structural basis for the nuclear protein import cycle","volume":"34","author":"Stewart","year":"2006","journal-title":"Biochem Soc Trans"},{"issue":"3","key":"10.1016\/j.nmd.2020.05.006_bib0021","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1111\/febs.13163","article-title":"Components and Regulation of Nuclear Transport Processes","volume":"282","author":"Cautain","year":"2015","journal-title":"FEBS J"},{"key":"10.1016\/j.nmd.2020.05.006_bib0022","doi-asserted-by":"crossref","DOI":"10.1155\/2015\/287048","article-title":"Posttranscriptional Regulation of Splicing Factor SRSF1 and Its Role in Cancer Cell Biology","volume":"2015","author":"Gon\u00e7alves","year":"2015","journal-title":"Biomed Res Int"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089662030122X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089662030122X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:09:36Z","timestamp":1760774976000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S096089662030122X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8]]},"references-count":22,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["S096089662030122X"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2020.05.006","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2020,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Transportin 3 (TNPO3) and related proteins in limb girdle muscular dystrophy D2 muscle biopsies: A morphological study and pathogenetic hypothesis","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2020.05.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}