{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T01:32:27Z","timestamp":1770082347655,"version":"3.49.0"},"reference-count":26,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,7,1]],"date-time":"2016-07-01T00:00:00Z","timestamp":1467331200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Canada Excellence Research Chairs program (MJF)"},{"name":"Province of British Columbia"},{"DOI":"10.13039\/501100013228","name":"Faroese Research Council","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100013228","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Faroese and Danish Parkinson Associations"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","prd-journal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Parkinsonism &amp; Related Disorders"],"published-print":{"date-parts":[[2016,7]]},"DOI":"10.1016\/j.parkreldis.2016.04.025","type":"journal-article","created":{"date-parts":[[2016,4,29]],"date-time":"2016-04-29T19:45:27Z","timestamp":1461959127000},"page":"56-61","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":33,"special_numbering":"C","title":["DCTN1 p.K56R in progressive supranuclear palsy"],"prefix":"10.1016","volume":"28","author":[{"given":"Emil K.","family":"Gustavsson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanne","family":"Trinh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilaria","family":"Guella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chelsea","family":"Szu-Tu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaskaran","family":"Khinda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chin-Hsien","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruey-Meei","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jon","family":"Stoessl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silke","family":"Appel-Cresswell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"McKeown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex","family":"Rajput","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali H.","family":"Rajput","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9404-8440","authenticated-orcid":false,"given":"Maria Skaalum","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beom S.","family":"Jeon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan O.","family":"Aasly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew J.","family":"Farrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.parkreldis.2016.04.025_bib1","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/ng1123","article-title":"Mutant dynactin in motor neuron disease","volume":"33","author":"Puls","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib2","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1002\/mds.25833","article-title":"A\u00a0novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy","volume":"29","author":"Araki","year":"2014","journal-title":"Mov. Disord."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib3","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/ng.293","article-title":"DCTN1 mutations in Perry syndrome","volume":"41","author":"Farrer","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib4","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1001\/archneur.1975.00490440058009","article-title":"Hereditary mental depression and Parkinsonism with taurine deficiency","volume":"32","author":"Perry","year":"1975","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib5","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.parkreldis.2014.01.010","article-title":"Expansion of the clinicopathological and mutational spectrum of Perry syndrome","volume":"20","author":"Chung","year":"2014","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib6","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1001\/jamaneurol.2014.227","article-title":"DCTN1 mutations and progressive supranuclear palsy-like phenotype","volume":"71","author":"Fujioka","year":"2014","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1212\/WNL.47.1.1","article-title":"Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop","volume":"47","author":"Litvan","year":"1996","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2016.04.025_bib8","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1001\/jamaneurol.2013.5100","article-title":"DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes","volume":"71","author":"Caroppo","year":"2014","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib9","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1212\/01.WNL.0000134608.83927.B1","article-title":"Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS","volume":"63","author":"Munch","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2016.04.025_bib10","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.1001611","article-title":"Dynactin subunit p150(Glued) is a neuron-specific anti-catastrophe factor","volume":"11","author":"Lazarus","year":"2013","journal-title":"PLoS Biol."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib11","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.neuron.2012.02.025","article-title":"Dynactin is required for transport initiation from the distal axon","volume":"74","author":"Moughamian","year":"2012","journal-title":"Neuron"},{"key":"10.1016\/j.parkreldis.2016.04.025_bib12","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1136\/jnnp.55.3.181","article-title":"Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases","volume":"55","author":"Hughes","year":"1992","journal-title":"J.\u00a0Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.parkreldis.2016.04.025_bib13","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1017\/S0317167100031814","article-title":"Accuracy of clinical diagnosis in parkinsonism\u2013a prospective study","volume":"18","author":"Rajput","year":"1991","journal-title":"Can. J. Neurol. Sci."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib14","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1212\/01.wnl.0000187889.17253.b1","article-title":"Diagnosis and management of dementia with Lewy bodies: third report of the DLB consortium","volume":"65","author":"McKeith","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2016.04.025_bib15","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1212\/01.wnl.0000324625.00404.15","article-title":"Second consensus statement on the diagnosis of multiple system atrophy","volume":"71","author":"Gilman","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2016.04.025_bib16","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/mds.26064","article-title":"DNAJC13 genetic variants in parkinsonism","volume":"30","author":"Gustavsson","year":"2015","journal-title":"Mov. Disord."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib17","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib18","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/j.parkreldis.2013.01.019","article-title":"STX6 rs1411478 is not associated with increased risk of Parkinson's disease","volume":"19","author":"Trinh","year":"2013","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib19","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1016\/j.parkreldis.2014.05.004","article-title":"Three families with Perry syndrome from distinct parts of the world","volume":"20","author":"Tacik","year":"2014","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib20","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.parkreldis.2008.07.005","article-title":"Pallidonigral TDP-43 pathology in Perry syndrome","volume":"15","author":"Wider","year":"2009","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib21","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1038\/ncb3063","article-title":"Autoregulatory mechanism for dynactin control of processive and diffusive dynein transport","volume":"16","author":"Tripathy","year":"2014","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib22","doi-asserted-by":"crossref","first-page":"2024","DOI":"10.1212\/WNL.0b013e3181a92c4c","article-title":"Characterization of DCTN1 genetic variability in neurodegeneration","volume":"72","author":"Vilarino-Guell","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2016.04.025_bib23","doi-asserted-by":"crossref","first-page":"1326","DOI":"10.1001\/archneur.65.10.1326","article-title":"Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis","volume":"65","author":"Takahashi","year":"2008","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib24","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1083\/jcb.139.2.469","article-title":"Overexpression of the dynamitin (p50) subunit of the dynactin complex disrupts dynein-dependent maintenance of membrane organelle distribution","volume":"139","author":"Burkhardt","year":"1997","journal-title":"J.\u00a0Cell Biol."},{"issue":"Pt 24","key":"10.1016\/j.parkreldis.2016.04.025_bib25","doi-asserted-by":"crossref","first-page":"4673","DOI":"10.1242\/jcs.112.24.4673","article-title":"Dynamic association of cytoplasmic dynein heavy chain 1a with the Golgi apparatus and intermediate compartment","volume":"112","author":"Roghi","year":"1999","journal-title":"J.\u00a0Cell Sci."},{"key":"10.1016\/j.parkreldis.2016.04.025_bib26","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1126\/science.aaa4080","article-title":"The structure of the dynactin complex and its interaction with dynein","volume":"347","author":"Urnavicius","year":"2015","journal-title":"Science"}],"container-title":["Parkinsonism &amp; Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802016301298?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802016301298?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,6,19]],"date-time":"2022-06-19T08:19:45Z","timestamp":1655626785000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802016301298"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7]]},"references-count":26,"alternative-id":["S1353802016301298"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2016.04.025","relation":{},"ISSN":["1353-8020"],"issn-type":[{"value":"1353-8020","type":"print"}],"subject":[],"published":{"date-parts":[[2016,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"DCTN1 p.K56R in progressive supranuclear palsy","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2016.04.025","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}