{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:31:04Z","timestamp":1791207064154,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2008,2,20]],"date-time":"2008-02-20T00:00:00Z","timestamp":1203465600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2008,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    To identify novel causes of familial neurodegenerative diseases, we extended our previous studies of TAR DNA\u2010binding protein 43 (TDP\u201043) proteinopathies to investigate\n                    <jats:italic>TDP\u201043<\/jats:italic>\n                    as a candidate gene in familial cases of motor neuron disease. Sequencing of the\n                    <jats:italic>TDP\u201043<\/jats:italic>\n                    gene led to the identification of a novel missense mutation, Ala\u2010315\u2010Thr, which segregates with all affected members of an autosomal dominant motor neuron disease family. The mutation was not found in 1,505 healthy control subjects. The discovery of a missense mutation in\n                    <jats:italic>TDP\u201043<\/jats:italic>\n                    in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered TDP\u201043 function and neurodegeneration. Ann Neurol 2008\n                  <\/jats:p>","DOI":"10.1002\/ana.21344","type":"journal-article","created":{"date-parts":[[2008,2,20]],"date-time":"2008-02-20T14:16:18Z","timestamp":1203516978000},"page":"535-538","source":"Crossref","is-referenced-by-count":550,"title":["<i>TDP\u201043<\/i>\n                    A315T mutation in familial motor neuron disease"],"prefix":"10.1002","volume":"63","author":[{"given":"Michael A.","family":"Gitcho","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert H.","family":"Baloh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumi","family":"Chakraverty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Mayo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne B.","family":"Norton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Levitch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimmo J.","family":"Hatanpaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"III","given":"Charles L.","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eileen H.","family":"Bigio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Caselli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matt","family":"Baker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad T.","family":"Al\u2010Lozi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Pestronk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Rademakers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison M.","family":"Goate","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel J.","family":"Cairns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,2,20]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2006.10.093"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1134108"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2007.070182"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21147"},{"key":"e_1_2_6_6_2","first-page":"21","article-title":"Genetic aspects of amyotrophic lateral sclerosis","volume":"88","author":"Siddique T","year":"2002","journal-title":"Adv Neurol"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1971"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/349704a0"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.276.5321.2045"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/31508"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(03)00214-3"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1128\/jvi.69.6.3584-3596.1995"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/20.7.1774"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2005.02.038"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-007-0237-2"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.21344","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.21344","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T14:54:47Z","timestamp":1695912887000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.21344"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,20]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,4]]}},"alternative-id":["10.1002\/ana.21344"],"URL":"https:\/\/doi.org\/10.1002\/ana.21344","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2,20]]}}}