{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:37:29Z","timestamp":1791250649299,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,10,20]],"date-time":"2005-10-20T00:00:00Z","timestamp":1129766400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2005,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The heterozygous R445H mutation in OPA1 was found in five patients with optic atrophy and deafness. Audiometry suggested that the sensorineural deafness resulted from auditory neuropathy. Skin fibroblasts showed hyperfragmentation of the mitochondrial network, decreased mitochondrial membrane potential, and adenosine triphosphate synthesis defect. In addition, OPA1 was found to be widely expressed in the sensory and neural cochlear cells of the guinea pig. Thus, optic atrophy and deafness may be related to energy defects due to a fragmented mitochondrial network. Ann Neurol 2005<\/jats:p>","DOI":"10.1002\/ana.20681","type":"journal-article","created":{"date-parts":[[2005,10,20]],"date-time":"2005-10-20T18:21:29Z","timestamp":1129832489000},"page":"958-963","source":"Crossref","is-referenced-by-count":154,"title":["OPA1 R445H mutation in optic atrophy associated with sensorineural deafness"],"prefix":"10.1002","volume":"58","author":[{"given":"Patrizia","family":"Amati\u2010Bonneau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Guichet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lien","family":"Olichon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Chevrollier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Viala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Miot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Ayuso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Arrouet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Verny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Noelle","family":"Calmels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilles","family":"Simard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Belenguer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Luc","family":"Puel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Malthi\u00e8ry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bonneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Lenaers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Reynier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,10,20]]},"reference":[{"issue":"54","key":"e_1_2_6_2_2","first-page":"1","article-title":"Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families","volume":"37","author":"Kjer P","year":"1959","journal-title":"Acta Ophtalmol Scand"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1974.03900060105003"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1076\/opge.23.1.29.2208"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/79936"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/79944"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9152"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1024441302074"},{"key":"e_1_2_6_9_2","first-page":"1715","article-title":"Comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy","volume":"43","author":"Thiselton DL","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_2_6_10_2","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1016\/S0002-9394(03)00665-2","article-title":"The association of ADOA and moderate deafness may be due to the R445H mutation in the OPA1 gene","volume":"136","author":"Amati\u2010Bonneau P","year":"2003","journal-title":"Am J Ophthalmol"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(02)01929-3"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2004.06.011"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016576"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(94)90055-8"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1006\/abio.1998.2776"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0248-4900(03)00062-5"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C200677200"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20278"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.5.730"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2003.10.015"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1341"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.20681","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.20681","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T23:52:06Z","timestamp":1697500326000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.20681"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10,20]]},"references-count":20,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2005,12]]}},"alternative-id":["10.1002\/ana.20681"],"URL":"https:\/\/doi.org\/10.1002\/ana.20681","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,10,20]]}}}