{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:22:13Z","timestamp":1786980133544,"version":"build-2736575974"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2011,9,2]],"date-time":"2011-09-02T00:00:00Z","timestamp":1314921600000},"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":[[2012,3]]},"DOI":"10.1007\/s00415-011-6230-7","type":"journal-article","created":{"date-parts":[[2011,9,1]],"date-time":"2011-09-01T13:44:10Z","timestamp":1314884650000},"page":"542-550","source":"Crossref","is-referenced-by-count":26,"title":["Auditory function in individuals within Leber\u2019s hereditary optic neuropathy pedigrees"],"prefix":"10.1007","volume":"259","author":[{"given":"Gary","family":"Rance","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa S.","family":"Kearns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Gravina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Henley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Carew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelley","family":"Graydon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fleur","family":"O\u2019Hare","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Mackey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,9,2]]},"reference":[{"key":"6230_CR1","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1136\/jmg.2007.054270","volume":"46","author":"P Yu-Wai-Man","year":"2009","unstructured":"Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF (2009) Inherited mitochondrial optic neuropathies. J Med Genet 46:145\u2013158","journal-title":"J Med Genet"},{"key":"6230_CR2","first-page":"481","volume":"59","author":"DA Mackey","year":"1996","unstructured":"Mackey DA, Oostra RJ, Rosenberg T et al (1996) Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 59:481\u2013485","journal-title":"Am J Hum Genet"},{"key":"6230_CR3","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1093\/brain\/awq276","volume":"134","author":"C Giordano","year":"2011","unstructured":"Giordano C, Montipoli M, Perli E et al (2011) Oestrogens ameliorate mitochondrial dysfunction in Leber\u2019s hereditary optic neuropathy. Brain 134:220\u2013234","journal-title":"Brain"},{"key":"6230_CR4","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/nrneurol.2010.77","volume":"6","author":"D Mackey","year":"2010","unstructured":"Mackey D, Trounce I (2010) Genetics: Optic nerve genetics\u2013more than meets the eye. Nat Rev Neurol 6:357\u2013358","journal-title":"Nat Rev Neurol"},{"key":"6230_CR5","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1093\/brain\/awq007","volume":"133","author":"P Yu-Wai-Man","year":"2010","unstructured":"Yu-Wai-Man P, Griffiths PG, Gorman GS et al (2010) Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133:771\u2013786","journal-title":"Brain"},{"key":"6230_CR6","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1136\/jnnp.2003.017673","volume":"75","author":"B Ceranic","year":"2008","unstructured":"Ceranic B, Luxon LM (2008) Progressive auditory neuropathy in patients with Leber\u2019s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 75:626\u2013630","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"3","key":"6230_CR7","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1093\/brain\/119.3.741","volume":"119","author":"A Starr","year":"1996","unstructured":"Starr A, Picton TW, Sininger YS, Hood LJ, Berlin CI (1996) Auditory Neuropathy. Brain 119(3):741\u2013753","journal-title":"Brain"},{"key":"6230_CR8","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/j.1600-0404.1990.tb01569.x","volume":"81","author":"M Mondelli","year":"1990","unstructured":"Mondelli M, Rossi A, Scarpini C, Dotti MT, Federico A (1990) BAEP changes in Leber\u2019s hereditary optic neuropathy\u2013further confirmation of multisystem involvement. Acta Neurol Scand 81:349\u2013353","journal-title":"Acta Neurol Scand"},{"key":"6230_CR9","first-page":"630","volume":"86","author":"P Yu-Wai-Man","year":"2008","unstructured":"Yu-Wai-Man P, Elliot C, Griffiths PG, Johnson IJ, Chinnery PF (2008) Investigation of auditory dysfunction in Leber hereditary optic neuropathy. Brain 86:630\u2013633","journal-title":"Brain"},{"key":"6230_CR10","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1097\/01.AUD.0000111259.59690.B8","volume":"25","author":"G Rance","year":"2004","unstructured":"Rance G, McKay C, Grayden D (2004) Perceptual characterisation of children with auditory neuropathy. Ear Hear 25:34\u201346","journal-title":"Ear Hear"},{"key":"6230_CR11","doi-asserted-by":"crossref","first-page":"3050","DOI":"10.1152\/jn.00985.2004","volume":"93","author":"F-G Zeng","year":"2005","unstructured":"Zeng F-G, Kong Y\u2013Y, Michaelewski HJ, Starr A (2005) Perceptual consequences of disrupted auditory nerve activity. J Neurophysiol 93:3050\u20133063","journal-title":"J Neurophysiol"},{"key":"6230_CR12","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1159\/000255341","volume":"15","author":"G Rance","year":"2010","unstructured":"Rance G, Corben L, Barker E et al (2010) Auditory Perception in Individuals with Friedreich Ataxia. Audiol & Neurotol 15:229\u2013240","journal-title":"Audiol & Neurotol"},{"key":"6230_CR13","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1097\/00003446-199906000-00006","volume":"20","author":"G Rance","year":"1999","unstructured":"Rance G, Beer DE, Cone-Wesson B et al (1999) Clinical findings for a group of infants and young children with auditory neuropathy. Ear Hear 20:238\u2013252","journal-title":"Ear Hear"},{"key":"6230_CR14","doi-asserted-by":"crossref","first-page":"2002","DOI":"10.1093\/brain\/awn104","volume":"131","author":"G Rance","year":"2008","unstructured":"Rance G, Fava R, Baldock H et al (2008) Speech perception ability in individuals with Friedeich ataxia. Brain 131:2002\u20132012","journal-title":"Brain"},{"key":"6230_CR15","doi-asserted-by":"crossref","first-page":"153","DOI":"10.3109\/01050398709042170","volume":"16","author":"E Sturzebecher","year":"1987","unstructured":"Sturzebecher E, Werbs M (1987) Effects of aging and sex on auditory brainstem response: A new aspect. Scand Audiol 16:153\u2013157","journal-title":"Scand Audiol"},{"key":"6230_CR16","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1136\/jnnp.61.5.533","volume":"61","author":"B Funalot","year":"1996","unstructured":"Funalot B, Ranoux D, Mas JL, Garcia C, Bonnefont JP (1996) Brainstem involvement in Leber\u2019s hereditary optic neuropathy: association with the 14, 484 mitochondrial genetic mutation. J Neurol Neurosurg Psychiatry 61:533\u2013534","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"6230_CR17","first-page":"36","volume":"49","author":"F-G Zeng","year":"2006","unstructured":"Zeng F-G, Liu S (2006) Speech perception in individuals with auditory neuropathy. J Speech Lang Hear Res 49:36","journal-title":"J Speech Lang Hear Res"},{"key":"6230_CR18","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1111\/j.1600-0404.1991.tb04970.x","volume":"84","author":"M Mondelli","year":"1991","unstructured":"Mondelli M, Rossi A, Scarpini C, Dotti MT, Federico A (1991) Lebers optic atrophy\u2013VEP and BAEP changes in 16 asymptomatic subjects. Acta Neurol Scand 84:366","journal-title":"Acta Neurol Scand"},{"key":"6230_CR19","doi-asserted-by":"crossref","first-page":"6206","DOI":"10.1073\/pnas.91.13.6206","volume":"91","author":"AS Jun","year":"1994","unstructured":"Jun AS, Brown MD, Wallace DC (1994) A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Nat Acad Sci USA 91:6206\u20136210","journal-title":"Proc Nat Acad Sci USA"},{"key":"6230_CR20","first-page":"703","volume":"58","author":"DD Vries De","year":"1996","unstructured":"De Vries DD, Went LN, Bruyn GW et al (1996) Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 58:703\u2013711","journal-title":"Am J Hum Genet"},{"key":"6230_CR21","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.jns.2009.09.009","volume":"286","author":"J Palace","year":"2009","unstructured":"Palace J (2009) Multiple sclerosis associated with Leber\u2019s Hereditary Optic Neuropathy. J Neurol Sci 286:24\u201327","journal-title":"J Neurol Sci"},{"key":"6230_CR22","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.jns.2005.11.003","volume":"243","author":"M Watanabe","year":"2006","unstructured":"Watanabe M, Mita S, Takita T, Goto Y, Uchino M, Imamura S (2006) Leber\u2019s hereditary optic neuropathy with dystonia in a Japanese family. J Neurol Sci 243:31\u201334","journal-title":"J Neurol Sci"},{"key":"6230_CR23","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1136\/jnnp.59.2.160","volume":"59","author":"EK Nikoskelainen","year":"1995","unstructured":"Nikoskelainen EK, Martilla RJ, Huoponen K et al (1995) Leber\u2019s \u201cplus\u201d neurological abnormalities in patients with Leber\u2019s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 59:160\u2013164","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"6230_CR24","first-page":"479","volume-title":"Handbook of Muscle Disease, (1996)","author":"M Hirano","year":"1996","unstructured":"Hirano M, DiMauro S (1996) Clinical features of mitochondrial myopathies and encephalomyopathies. In: Lane RJM (ed) Handbook of Muscle Disease, (1996), vol 1. Marcel Dekker, New York, pp 479\u2013504"},{"key":"6230_CR25","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/ana.410310408","volume":"31","author":"E Ciafaloni","year":"1992","unstructured":"Ciafaloni E, Ricci E, Shanske S et al (1992) MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 31:391\u2013398","journal-title":"Ann Neurol"},{"key":"6230_CR26","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1093\/brain\/123.1.82","volume":"123","author":"PF Chinnery","year":"2000","unstructured":"Chinnery PF, Elliott C, Green GR et al (2000) The spectrum of hearing loss due to mitochondrial DNA defects. Brain 123:82\u201392","journal-title":"Brain"},{"key":"6230_CR27","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1128\/MCB.16.3.771","volume":"16","author":"AS Jun","year":"1996","unstructured":"Jun AS, Trounce IA, Brown MD, Shoffner JM, Wallace DC (1996) Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mol Cell Biol 16:771\u2013777","journal-title":"Mol Cell Biol"},{"key":"6230_CR28","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1016\/j.neuroscience.2010.09.013","volume":"171","author":"G Rance","year":"2010","unstructured":"Rance G, Corben LA, DuBourg E et al (2010) Successful treatment of auditory perceptual disorder in individuals with Friedreich ataxia. Neuroscience 171:552\u2013555","journal-title":"Neuroscience"},{"key":"6230_CR29","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1044\/0161-1461.3104.362","volume":"31","author":"CC Crandell","year":"2000","unstructured":"Crandell CC, Smaldino JJ (2000) Classroom acoustics for children with normal hearing and with hearing impairment. Lang Speech Hear Serv Sch 31:362\u2013370","journal-title":"Lang Speech Hear Serv Sch"},{"key":"6230_CR30","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1001\/archopht.124.10.1465","volume":"124","author":"EM Chia","year":"2006","unstructured":"Chia EM, Mitchell P, Rochtchina E, Foran S, Golding M, Wang JJ (2006) Association Between Vision and Hearing Impairments and Their Combined Effects on Quality of Life. Arch Ophthalmol 124:1465\u20131470","journal-title":"Arch Ophthalmol"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-011-6230-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-011-6230-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-011-6230-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T15:22:55Z","timestamp":1559056975000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-011-6230-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,2]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["6230"],"URL":"https:\/\/doi.org\/10.1007\/s00415-011-6230-7","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9,2]]}}}