{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:09:27Z","timestamp":1792782567210,"version":"4.5.0"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2009,7,16]],"date-time":"2009-07-16T00:00:00Z","timestamp":1247702400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH","award":["AG010133"],"award-info":[{"award-number":["AG010133"]}]},{"name":"EU","award":["FP6"],"award-info":[{"award-number":["FP6"]}]},{"name":"EU","award":["BNEII No LSHM-CT-2004-503039"],"award-info":[{"award-number":["BNEII No LSHM-CT-2004-503039"]}]},{"name":"Department of Neurological"},{"name":"Neurosurgical and Behavioral Sciences"},{"name":"University of Siena, Siena, Italy","id":[{"id":"https:\/\/ror.org\/01tevnk56","id-type":"ROR","asserted-by":"crossref"}]},{"name":"National Cell Repository for Alzheimer's Disease","award":["U24 AG21886"],"award-info":[{"award-number":["U24 AG21886"]}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2009,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    TDP\u201043 has been identified as the pathological protein in the majority of cases of frontotemporal lobar degeneration and amyotrophic lateral sclerosis (ALS).\n                    <jats:italic>TARDBP<\/jats:italic>\n                    mutations have so far been uniquely associated with familial and sporadic ALS. We describe clinicopathological and genetic findings in a carrier of the novel K263E\n                    <jats:italic>TARDBP<\/jats:italic>\n                    variation, who developed frontotemporal dementia, supranuclear palsy, and chorea, but no signs of motor neuron disease. Neuropathologic examination revealed neuronal and glial TDP\u201043\u2010immunoreactive deposits, predominantly in subcortical nuclei and brainstem. This is the first report of a\n                    <jats:italic>TARDBP<\/jats:italic>\n                    variation associated with a neurodegenerative syndrome other than ALS. \u00a9 2009 Movement Disorder Society\n                  <\/jats:p>","DOI":"10.1002\/mds.22697","type":"journal-article","created":{"date-parts":[[2009,7,17]],"date-time":"2009-07-17T12:59:28Z","timestamp":1247835568000},"page":"1842-1847","source":"Crossref","is-referenced-by-count":158,"title":["<i>TARDBP<\/i>\n                    variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea"],"prefix":"10.1002","volume":"24","author":[{"given":"Gabor G.","family":"Kovacs","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill R.","family":"Murrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandor","family":"Horvath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laszlo","family":"Haraszti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katalin","family":"Majtenyi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria J.","family":"Molnar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herbert","family":"Budka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernardino","family":"Ghetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Spina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,7,16]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2006.10.093"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e31817d751c"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1134108"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.132"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.9.1185"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1154584"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2007.03.044"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2007.05.022"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21612"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1925564"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21344"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000254460.31273.2d"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.12.982"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.6.1546"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21425"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-007-0241-6"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1159\/000109758"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22065"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2008.07.005"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e31818e8951"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.22697","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.22697","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.22697","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:03:12Z","timestamp":1760961792000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.22697"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7,16]]},"references-count":20,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2009,9,15]]}},"alternative-id":["10.1002\/mds.22697"],"URL":"https:\/\/doi.org\/10.1002\/mds.22697","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,7,16]]}}}