{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:26:44Z","timestamp":1791217604211,"version":"4.1.0"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,11,8]],"date-time":"2013-11-08T00:00:00Z","timestamp":1383868800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2014,1]]},"DOI":"10.1007\/s00415-013-7177-7","type":"journal-article","created":{"date-parts":[[2013,11,7]],"date-time":"2013-11-07T05:17:36Z","timestamp":1383801456000},"page":"207-212","source":"Crossref","is-referenced-by-count":40,"title":["Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation"],"prefix":"10.1007","volume":"261","author":[{"given":"Sarah","family":"Doss","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Seibler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bj\u00f6rn","family":"Arns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Klopstock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Z\u00fchlke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Freimann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susen","family":"Winkler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thora","family":"Lohnau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Drungowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Wiegers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebba","family":"Lohmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadaf","family":"Naz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meike","family":"Kasten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg","family":"Bohner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Ramirez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Endres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,11,8]]},"reference":[{"key":"7177_CR1","doi-asserted-by":"crossref","first-page":"1570","DOI":"10.1016\/j.bbadis.2012.07.002","volume":"1822","author":"V Agier","year":"2012","unstructured":"Agier V, Oliviero P, Laine J, L\u2019Hermitte-Stead C, Girard S, Fillaut S, Jardel C, Bouillaud F, Bulteau AL, Lombes A (2012) Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations. Biochim Biophys Acta 1822:1570\u20131580","journal-title":"Biochim Biophys Acta"},{"key":"7177_CR2","doi-asserted-by":"crossref","unstructured":"Arif B, Kumar K, Seibler P, Franke F, Fatima A, Winkler S, N\u00fcrnberg G, Thiele H, N\u00fcrnberg P, Zeeshan Jamil A et al (2013) Exome sequencing reveals a novel OPA3 mutation: An example of \u201creverse phenotyping\u201d. JAMA Neurol 70(6):783\u2013787","DOI":"10.1001\/jamaneurol.2013.1174"},{"key":"7177_CR3","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1007\/978-1-4614-3573-0_14","volume":"748","author":"S DiMauro","year":"2012","unstructured":"DiMauro S, Tanji K, Schon EA (2012) The many clinical faces of cytochrome c oxidase deficiency. Adv Exp Med Biol 748:341\u2013357","journal-title":"Adv Exp Med Biol"},{"key":"7177_CR4","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1007\/BF00441735","volume":"144","author":"JC Fischer","year":"1986","unstructured":"Fischer JC, Ruitenbeek W, Gabreels FJ, Janssen AJ, Renier WO, Sengers RC, Stadhouders AM, ter Laak HJ, Trijbels JM, Veerkamp JH (1986) A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Eur J Pediatr 144:441\u2013444","journal-title":"Eur J Pediatr"},{"key":"7177_CR5","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.ejpn.2009.11.005","volume":"14","author":"N Gouider-Khouja","year":"2010","unstructured":"Gouider-Khouja N, Kraoua I, Benrhouma H, Fraj N, Rouissi A (2010) Movement disorders in neuro-metabolic diseases. Eur J Paediatr Neurol 14:304\u2013307","journal-title":"Eur J Paediatr Neurol"},{"key":"7177_CR6","doi-asserted-by":"crossref","first-page":"e12962","DOI":"10.1371\/journal.pone.0012962","volume":"5","author":"A Gr\u00fcnewald","year":"2010","unstructured":"Gr\u00fcnewald A, Voges L, Rakovic A, Kasten M, Vandebona H, Hemmelmann C, Lohmann K, Orolicki S, Ramirez A, Schapira AH et al (2010) Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts. PLoS ONE 5:e12962","journal-title":"PLoS ONE"},{"key":"7177_CR7","doi-asserted-by":"crossref","first-page":"C881","DOI":"10.1152\/ajpcell.00104.2005","volume":"289","author":"WJ Koopman","year":"2005","unstructured":"Koopman WJ, Visch HJ, Verkaart S, van den Heuvel LW, Smeitink JA, Willems PH (2005) Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency. Am J Physiol Cell Physiol 289:C881\u2013C890","journal-title":"Am J Physiol Cell Physiol"},{"key":"7177_CR8","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1002\/mds.10308","volume":"18","author":"M Kuoppamaki","year":"2003","unstructured":"Kuoppamaki M, Giunti P, Quinn N, Wood NW, Bhatia KP (2003) Slowly progressive cerebellar ataxia and cervical dystonia: clinical presentation of a new form of spinocerebellar ataxia? Mov Disord 18:200\u2013206","journal-title":"Mov Disord"},{"key":"7177_CR9","doi-asserted-by":"crossref","first-page":"1769","DOI":"10.1212\/01.wnl.0000244484.60489.50","volume":"67","author":"I Ber Le","year":"2006","unstructured":"Le Ber I, Clot F, Vercueil L, Camuzat A, Viemont M, Benamar N, De Liege P, Ouvrard-Hernandez AM, Pollak P, Stevanin G et al (2006) Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. Neurology 67:1769\u20131773","journal-title":"Neurology"},{"key":"7177_CR10","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/B978-0-12-394395-8.00002-5","volume":"79","author":"MS LeDoux","year":"2012","unstructured":"LeDoux MS (2012) The genetics of dystonia. Adv Genet 79:35\u201385","journal-title":"Adv Genet"},{"key":"7177_CR11","doi-asserted-by":"crossref","first-page":"E2967","DOI":"10.1073\/pnas.1303872110","volume":"110","author":"SG Rolland","year":"2013","unstructured":"Rolland SG, Motori E, Memar N, Hench J, Frank S, Winklhofer KF, Conradt B (2013) Impaired complex IV activity in response to loss of LRPPRC function can be compensated by mitochondrial hyperfusion. Proc Natl Acad Sci USA 110:E2967\u2013E2976","journal-title":"Proc Natl Acad Sci USA"},{"key":"7177_CR12","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1093\/hmg\/dds473","volume":"22","author":"R Szklarczyk","year":"2013","unstructured":"Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA et al (2013) A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. Hum Mol Genet 22:656\u2013667","journal-title":"Hum Mol Genet"},{"key":"7177_CR13","doi-asserted-by":"crossref","first-page":"1816","DOI":"10.1016\/j.clinph.2011.02.029","volume":"122","author":"P Talelli","year":"2011","unstructured":"Talelli P, Hoffland BS, Schneider SA, Edwards MJ, Bhatia KP, van de Warrenburg BP, Rothwell JC (2011) A distinctive pattern of cortical excitability in patients with the syndrome of dystonia and cerebellar ataxia. Clin Neurophysiol 122:1816\u20131819","journal-title":"Clin Neurophysiol"},{"key":"7177_CR14","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1002\/humu.21445","volume":"32","author":"J Thusberg","year":"2011","unstructured":"Thusberg J, Olatubosun A, Vihinen M (2011) Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 32:358\u2013368","journal-title":"Hum Mutat"},{"key":"7177_CR15","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1136\/jnnp.2006.105841","volume":"78","author":"BP Warrenburg van de","year":"2007","unstructured":"van de Warrenburg BP, Giunti P, Schneider SA, Quinn NP, Wood NW, Bhatia KP (2007) The syndrome of (predominantly cervical) dystonia and cerebellar ataxia: new cases indicate a distinct but heterogeneous entity. J Neurol Neurosurg Psychiatry 78:774\u2013775","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"7177_CR16","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1002\/mds.23584","volume":"26","author":"J Gaalen van","year":"2011","unstructured":"van Gaalen J, Giunti P, van de Warrenburg BP (2011) Movement disorders in spinocerebellar ataxias. Mov Disord 26:792\u2013800","journal-title":"Mov Disord"},{"key":"7177_CR17","doi-asserted-by":"crossref","first-page":"1817","DOI":"10.1073\/pnas.96.5.1817","volume":"96","author":"DC Wallace","year":"1999","unstructured":"Wallace DC, Murdock DG (1999) Mitochondria and dystonia: the movement disorder connection? Proc Natl Acad Sci USA 96:1817\u20131819","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-013-7177-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-013-7177-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-013-7177-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T15:23:18Z","timestamp":1559056998000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-013-7177-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,8]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["7177"],"URL":"https:\/\/doi.org\/10.1007\/s00415-013-7177-7","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,8]]}}}