{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T02:13:12Z","timestamp":1783995192688,"version":"3.55.0"},"reference-count":9,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100014188","name":"Korea Ministry of Science and ICT","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100014188","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1016\/j.gene.2023.147403","type":"journal-article","created":{"date-parts":[[2023,3,29]],"date-time":"2023-03-29T21:09:58Z","timestamp":1680124198000},"page":"147403","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family"],"prefix":"10.1016","volume":"870","author":[{"given":"Byeonghyeon","family":"Lee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ha Hyun","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye-Ri","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong-Heun","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seong Tae","family":"Cho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeong Ho","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Un-Kyung","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-Sung","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"12","key":"10.1016\/j.gene.2023.147403_b0005","doi-asserted-by":"crossref","first-page":"2684","DOI":"10.1007\/s00415-015-7899-9","article-title":"Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis","volume":"262","author":"Citterio","year":"2015","journal-title":"J. Neurol."},{"issue":"5","key":"10.1016\/j.gene.2023.147403_b0010","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1101\/gr.117143.110","article-title":"Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis","volume":"21","author":"Erlich","year":"2011","journal-title":"Genome. Res."},{"issue":"Pt 6","key":"10.1016\/j.gene.2023.147403_b0015","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1093\/brain\/awl012","article-title":"Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3","volume":"129","author":"Klebe","year":"2006","journal-title":"Brain"},{"issue":"5","key":"10.1016\/j.gene.2023.147403_b0020","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1111\/ene.13279","article-title":"Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene","volume":"24","author":"Krenn","year":"2017","journal-title":"Eur. J. Neurol."},{"issue":"1","key":"10.1016\/j.gene.2023.147403_b0025","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/humu.22709","article-title":"De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy","volume":"36","author":"Lee","year":"2015","journal-title":"Hum. Mutat."},{"issue":"5","key":"10.1016\/j.gene.2023.147403_b0030","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/0092-8674(95)90538-3","article-title":"The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors","volume":"81","author":"Okada","year":"1995","journal-title":"Cell"},{"issue":"1","key":"10.1016\/j.gene.2023.147403_b0035","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/s41431-019-0497-z","article-title":"KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia","volume":"28","author":"Pennings","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"issue":"10","key":"10.1016\/j.gene.2023.147403_b0040","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1038\/ejhg.2014.297","article-title":"Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia","volume":"23","author":"Ylikallio","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2023.147403_b0045","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.ensci.2018.11.026","article-title":"The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case","volume":"14","author":"Yoshikawa","year":"2019","journal-title":"eNeurologicalSci"}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111923002445?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111923002445?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T17:02:43Z","timestamp":1759856563000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111923002445"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6]]},"references-count":9,"alternative-id":["S0378111923002445"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2023.147403","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2023,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2023.147403","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"147403"}}