{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:25:46Z","timestamp":1791293146428,"version":"4.1.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2014,5,10]],"date-time":"2014-05-10T00:00:00Z","timestamp":1399680000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2014,8]]},"DOI":"10.1007\/s10048-014-0405-1","type":"journal-article","created":{"date-parts":[[2014,5,8]],"date-time":"2014-05-08T23:52:43Z","timestamp":1399593163000},"page":"171-182","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy"],"prefix":"10.1007","volume":"15","author":[{"given":"Mi-Hyun","family":"Park","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hae-Mi","family":"Woo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Bin","family":"Hong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji Hoon","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo Ram","family":"Yoon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-Mo","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeong Hyun","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heasoo","family":"Koo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong-Hee","family":"Chae","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ki Wha","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byung-Ok","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soo Kyung","family":"Koo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,5,10]]},"reference":[{"key":"405_CR1","doi-asserted-by":"crossref","first-page":"2153","DOI":"10.1093\/brain\/awh259","volume":"127","author":"M Zeviani","year":"2004","unstructured":"Zeviani M, Di Donato S (2004) Mitochondrial disorders. Brain 127:2153\u20132172","journal-title":"Brain"},{"key":"405_CR2","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1002\/path.3028","volume":"226","author":"LC Greaves","year":"2012","unstructured":"Greaves LC, Reeve AK, Taylor RW et al (2012) Mitochondrial DNA and disease. J Pathol 226:274\u2013286","journal-title":"J Pathol"},{"key":"405_CR3","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1083\/jcb.201010024","volume":"193","author":"CB Park","year":"2011","unstructured":"Park CB, Larsson NG (2011) Mitochondrial DNA mutations in disease and aging. J Cell Biol 193:809\u2013818","journal-title":"J Cell Biol"},{"key":"405_CR4","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/90058","volume":"28","author":"JN Spelbrink","year":"2001","unstructured":"Spelbrink JN, Li FY, Tiranti V et al (2001) Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 28:223\u2013231","journal-title":"Nat Genet"},{"key":"405_CR5","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1002\/mus.880170507","volume":"17","author":"T Koskinen","year":"1994","unstructured":"Koskinen T, Sainio K, Rapola J et al (1994) Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). Muscle Nerve 17:509\u2013515","journal-title":"Muscle Nerve"},{"key":"405_CR6","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.pediatrneurol.2011.12.006","volume":"46","author":"H D\u00fcndar","year":"2012","unstructured":"D\u00fcndar H, Ozg\u00fcl RK, Yaln\u0131zo\u011flu D et al (2012) Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing. Pediatr Neurol 46:172\u2013177","journal-title":"Pediatr Neurol"},{"key":"405_CR7","first-page":"303096","volume":"2012","author":"JN Hartley","year":"2012","unstructured":"Hartley JN, Booth FA, Del Bigio MR et al (2012) Novel autosomal recessive c10orf2 mutations causing infantile-onset spinocerebellar ataxia. Case Rep Pediatr 2012:303096","journal-title":"Case Rep Pediatr"},{"key":"405_CR8","doi-asserted-by":"crossref","first-page":"2981","DOI":"10.1093\/hmg\/ddi328","volume":"14","author":"K Nikali","year":"2005","unstructured":"Nikali K, Suomalainen A, Saharinen J et al (2005) Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet 14:2981\u20132990","journal-title":"Hum Mol Genet"},{"key":"405_CR9","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1002\/ajmg.a.32731","volume":"149","author":"JL Hove Van","year":"2009","unstructured":"Van Hove JL, Cunningham V, Rice C et al (2009) Finding Twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. Am J Med Genet A 149:861\u2013867","journal-title":"Am J Med Genet A"},{"key":"405_CR10","doi-asserted-by":"crossref","first-page":"3032","DOI":"10.1093\/brain\/awm242","volume":"130","author":"AH Hakonen","year":"2007","unstructured":"Hakonen AH, Isohanni P, Paetau A et al (2007) Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 130:3032\u20133040","journal-title":"Brain"},{"key":"405_CR11","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1212\/WNL.50.4.1074","volume":"50","author":"N Birouk","year":"1998","unstructured":"Birouk N, LeGuern E, Maisonobe T et al (1998) X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology 50:1074\u20131082","journal-title":"Neurology"},{"key":"405_CR12","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1212\/01.WNL.0000156517.00615.A3","volume":"64","author":"ME Shy","year":"2005","unstructured":"Shy ME, Blake J, Krajewski K et al (2005) Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 64:1209\u20131214","journal-title":"Neurology"},{"key":"405_CR13","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1002\/humu.22143","volume":"33","author":"BO Choi","year":"2012","unstructured":"Choi BO, Koo SK, Park MH et al (2012) Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease. Hum Mutat 33:1610\u20131615","journal-title":"Hum Mutat"},{"key":"405_CR14","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/s10048-012-0346-5","volume":"14","author":"BO Choi","year":"2013","unstructured":"Choi BO, Park MH, Chung KW et al (2013) Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2. Neurogenetics 14:35\u201342","journal-title":"Neurogenetics"},{"key":"405_CR15","first-page":"72","volume":"14","author":"HM Woo","year":"2013","unstructured":"Woo HM, Park HJ, Baek JI et al (2013) Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families. BMC Med Genet 14:72","journal-title":"BMC Med Genet"},{"key":"405_CR16","doi-asserted-by":"crossref","first-page":"D883","DOI":"10.1093\/nar\/gkq1101","volume":"39","author":"D Hong","year":"2011","unstructured":"Hong D, Park SS, Ju YS et al (2011) TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology. Nucleic Acids Res 39:D883\u2013D888","journal-title":"Nucleic Acids Res"},{"key":"405_CR17","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/j.jmb.2008.01.035","volume":"377","author":"JA Korhonen","year":"2008","unstructured":"Korhonen JA, Pande V, Holmlund T et al (2008) Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia. J Mol Biol 377:691\u2013705","journal-title":"J Mol Biol"},{"key":"405_CR18","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1002\/ana.21207","volume":"62","author":"E Sarzi","year":"2007","unstructured":"Sarzi E, Goffart S, Serre V et al (2007) Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol 62:579\u2013587","journal-title":"Ann Neurol"},{"key":"405_CR19","doi-asserted-by":"crossref","first-page":"e43954","DOI":"10.1371\/journal.pone.0043954","volume":"7","author":"A Sanchez-Martinez","year":"2012","unstructured":"Sanchez-Martinez A, Calleja M, Peralta S et al (2012) Modeling pathogenic mutations of human Twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects. PLoS One 7:e43954","journal-title":"PLoS One"},{"key":"405_CR20","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1212\/WNL.48.5.1244","volume":"48","author":"A Suomalainen","year":"1997","unstructured":"Suomalainen A, Majander A, Wallin M et al (1997) Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology 48:1244\u20131253","journal-title":"Neurology"},{"key":"405_CR21","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1212\/01.WNL.0000149767.51152.83","volume":"64","author":"G Hudson","year":"2005","unstructured":"Hudson G, Deschauer M, Busse K et al (2005) Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. Neurology 64:371\u2013373","journal-title":"Neurology"},{"key":"405_CR22","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1093\/brain\/awp045","volume":"132","author":"T Lonnqvist","year":"2009","unstructured":"Lonnqvist T, Paetau A, Valanne L et al (2009) Recessive twinkle mutations cause severe epileptic encephalopathy. Brain 132:1553\u20131562","journal-title":"Brain"},{"issue":"1","key":"405_CR23","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/0022-510X(94)90156-2","volume":"121","author":"T Koskinen","year":"1994","unstructured":"Koskinen T, Santavuori P, Sainio K et al (1994) Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease. J Neurol Sci 121(1):50\u201356","journal-title":"J Neurol Sci"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-014-0405-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10048-014-0405-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-014-0405-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,3,26]],"date-time":"2019-03-26T18:52:16Z","timestamp":1553626336000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10048-014-0405-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,10]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["405"],"URL":"https:\/\/doi.org\/10.1007\/s10048-014-0405-1","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,10]]}}}