{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T22:15:13Z","timestamp":1790720113611,"version":"4.1.0"},"reference-count":30,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2015,3,1]],"date-time":"2015-03-01T00:00:00Z","timestamp":1425168000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,3,1]],"date-time":"2015-03-01T00:00:00Z","timestamp":1425168000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["AG031867"],"award-info":[{"award-number":["AG031867"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["AG042095"],"award-info":[{"award-number":["AG042095"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS055980"],"award-info":[{"award-number":["NS055980"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS069669"],"award-info":[{"award-number":["NS069669"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS075094"],"award-info":[{"award-number":["NS075094"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000861","name":"Burroughs Wellcome Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000861","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014761","name":"Hope Center for Neurological Disorders","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014761","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015391","name":"Myositis Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015391","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2015,3]]},"DOI":"10.1016\/j.nmd.2014.12.002","type":"journal-article","created":{"date-parts":[[2014,12,12]],"date-time":"2014-12-12T18:09:37Z","timestamp":1418407777000},"page":"199-206","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":25,"title":["Autophagic vacuolar pathology in desminopathies"],"prefix":"10.1016","volume":"25","author":[{"given":"Conrad C.","family":"Weihl","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanley","family":"Iyadurai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert H.","family":"Baloh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara K.","family":"Pittman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert E.","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glenn","family":"Lopate","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Pestronk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew B.","family":"Harms","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2014.12.002_bib0010","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.spen.2006.06.004","article-title":"Autophagic vacuolar myopathy","volume":"13","author":"Nishino","year":"2006","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.nmd.2014.12.002_bib0015","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1093\/jnen\/64.6.513","article-title":"Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies","volume":"64","author":"Sugie","year":"2005","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.nmd.2014.12.002_bib0020","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1007\/s00401-012-1073-6","article-title":"VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy","volume":"125","author":"Ramachandran","year":"2013","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.nmd.2014.12.002_bib0025","doi-asserted-by":"crossref","first-page":"2072","DOI":"10.1212\/WNL.0000000000000490","article-title":"Novel CLN3 mutation causing autophagic vacuolar myopathy","volume":"82","author":"Cortese","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2014.12.002_bib0030","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/35022604","article-title":"Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)","volume":"406","author":"Nishino","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2014.12.002_bib0035","doi-asserted-by":"crossref","first-page":"2642","DOI":"10.1093\/brain\/aws200","article-title":"Pathophysiology of protein aggregation and extended phenotyping in filaminopathy","volume":"135","author":"Kley","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2014.12.002_bib0040","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.jns.2008.11.010","article-title":"Inflammatory myopathies with mitochondrial pathology and protein aggregates","volume":"278","author":"Temiz","year":"2009","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nmd.2014.12.002_bib0045","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1083\/jcb.200908115","article-title":"Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease","volume":"187","author":"Ju","year":"2009","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2014.12.002_bib0050","doi-asserted-by":"crossref","first-page":"e48864","DOI":"10.1371\/journal.pone.0048864","article-title":"Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered","volume":"7","author":"McDonald","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.nmd.2014.12.002_bib0055","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1002\/humu.20351","article-title":"Variable pathogenic potentials of mutations located in the desmin alpha-helical domain","volume":"27","author":"Goudeau","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2014.12.002_bib0060","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/s00401-012-1057-6","article-title":"Desminopathies: pathology and mechanisms","volume":"125","author":"Clemen","year":"2013","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.nmd.2014.12.002_bib0065","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1097\/00019052-199710000-00012","article-title":"Desmin-related myopathies","volume":"10","author":"Goebel","year":"1997","journal-title":"Curr Opin Neurol"},{"key":"10.1016\/j.nmd.2014.12.002_bib0070","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1093\/brain\/awh052","article-title":"Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients","volume":"127","author":"Selcen","year":"2004","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2014.12.002_bib0075","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.nmd.2007.12.006","article-title":"Expression of caveolar components in primary desminopathy","volume":"18","author":"Shinde","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2014.12.002_bib0080","first-page":"1200","article-title":"Localization of dystrophin and beta-spectrin in vacuolar myopathies","volume":"143","author":"De Bleecker","year":"1993","journal-title":"Am J Pathol"},{"key":"10.1016\/j.nmd.2014.12.002_bib0085","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1007\/s004010100434","article-title":"Colchicine myopathy: a vacuolar myopathy with selective type I muscle fiber involvement. An immunohistochemical and electron microscopic study of two cases","volume":"103","author":"Fernandez","year":"2002","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.nmd.2014.12.002_bib0090","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1002\/humu.20459","article-title":"Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies","volume":"28","author":"Bar","year":"2007","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2014.12.002_bib0095","first-page":"121","article-title":"Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy","volume":"30","author":"Vattemi","year":"2011","journal-title":"Acta Myol"},{"key":"10.1016\/j.nmd.2014.12.002_bib0100","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1016\/j.hrthm.2010.04.023","article-title":"Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks","volume":"7","author":"Otten","year":"2010","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.nmd.2014.12.002_bib0105","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1111\/j.1365-2990.2010.01112.x","article-title":"A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene","volume":"37","author":"Hong","year":"2011","journal-title":"Neuropathol Appl Neurobiol"},{"key":"10.1016\/j.nmd.2014.12.002_bib0110","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.nmd.2007.09.011","article-title":"Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family","volume":"18","author":"Pica","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2014.12.002_bib0115","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.ejmg.2007.06.003","article-title":"Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene","volume":"50","author":"Bergman","year":"2007","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.nmd.2014.12.002_bib0120","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1111\/j.1432-0436.2007.00163.x","article-title":"Differentiation of cardiomyocytes requires functional serine residues within the amino-terminal domain of desmin","volume":"75","author":"Hollrigl","year":"2007","journal-title":"Differentiation"},{"key":"10.1016\/j.nmd.2014.12.002_bib0125","doi-asserted-by":"crossref","first-page":"E490","DOI":"10.1002\/humu.20941","article-title":"How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy","volume":"30","author":"Clemen","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2014.12.002_bib0130","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/1765","article-title":"A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy","volume":"20","author":"Vicart","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2014.12.002_bib0135","doi-asserted-by":"crossref","first-page":"9745","DOI":"10.1073\/pnas.0706802105","article-title":"Autophagy is an adaptive response in desmin-related cardiomyopathy","volume":"105","author":"Tannous","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.nmd.2014.12.002_bib0140","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1161\/CIRCRESAHA.111.244707","article-title":"Autophagy and p62 in cardiac proteinopathy","volume":"109","author":"Zheng","year":"2011","journal-title":"Circ Res"},{"key":"10.1016\/j.nmd.2014.12.002_bib0145","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1161\/CIRCRESAHA.110.237339","article-title":"Atg7 induces basal autophagy and rescues autophagic deficiency in CryABR120G cardiomyocytes","volume":"109","author":"Pattison","year":"2011","journal-title":"Circ Res"},{"key":"10.1016\/j.nmd.2014.12.002_bib0150","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1016\/j.yjmcc.2010.09.004","article-title":"Selective degradation of aggregate-prone CryAB mutants by HSPB1 is mediated by ubiquitin-proteasome pathways","volume":"49","author":"Zhang","year":"2010","journal-title":"J Mol Cell Cardiol"},{"key":"10.1016\/j.nmd.2014.12.002_bib0155","doi-asserted-by":"crossref","first-page":"5284","DOI":"10.1172\/JCI70877","article-title":"Enhanced autophagy ameliorates cardiac proteinopathy","volume":"123","author":"Bhuiyan","year":"2013","journal-title":"J Clin Invest"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896614007044?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896614007044?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:03:10Z","timestamp":1760774590000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896614007044"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["S0960896614007044"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2014.12.002","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2015,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Autophagic vacuolar pathology in desminopathies","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2014.12.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}