{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T02:50:21Z","timestamp":1764557421181,"version":"3.46.0"},"reference-count":7,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2017,7,25]],"date-time":"2017-07-25T00:00:00Z","timestamp":1500940800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title>\n                  <jats:p>\n                    <jats:styled-content style=\"fixed-case\">SPG<\/jats:styled-content>\n                    8 is an autosomal dominant\n                    <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>\n                    , which phenotype results from\n                    <jats:styled-content style=\"fixed-case\">KIAA<\/jats:styled-content>\n                    0196 gene mutations. There have been twelve types of\n                    <jats:styled-content style=\"fixed-case\">KIAA<\/jats:styled-content>\n                    0196 mutations described in\n                    <jats:styled-content style=\"fixed-case\">HGMD<\/jats:styled-content>\n                    , which are located in conservative region of gene encoding strumpellin. We describe first patient in Poland, simultaneously second in the world with\n                    <jats:styled-content style=\"fixed-case\">KIAA<\/jats:styled-content>\n                    0196 mutation \u2013 p.V620A.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.1080","type":"journal-article","created":{"date-parts":[[2017,7,25]],"date-time":"2017-07-25T06:55:00Z","timestamp":1500965700000},"page":"1468-1470","source":"Crossref","is-referenced-by-count":6,"title":["First patient with hereditary spastic paraplegia type 8 in Poland"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0806-0262","authenticated-orcid":false,"given":"Piotr","family":"Bogucki","sequence":"first","affiliation":[{"name":"Synapsa Piotr Bogucki ul. Barona 22F\/5 43\u2010100 Tychy Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"Sobczy\u0144ska\u2010Tomaszewska","sequence":"additional","affiliation":[{"name":"MedGen Medical Centre Orzycka 27 02\u2010695 Warszawa Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,7,25]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0359-x"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.10.011"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2014.10.018"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/510782"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-6870-x"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-7044-6"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2016.02.031"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fccr3.1080","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.1080","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T06:23:01Z","timestamp":1764483781000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.1080"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,25]]},"references-count":7,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["10.1002\/ccr3.1080"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.1080","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"type":"print","value":"2050-0904"},{"type":"electronic","value":"2050-0904"}],"subject":[],"published":{"date-parts":[[2017,7,25]]}}}