{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:52:51Z","timestamp":1779929571866,"version":"3.53.1"},"reference-count":17,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2012,4,1]],"date-time":"2012-04-01T00:00:00Z","timestamp":1333238400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,16]],"date-time":"2013-07-16T00:00:00Z","timestamp":1373932800000},"content-version":"vor","delay-in-days":471,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2012,4]]},"DOI":"10.1016\/j.jns.2011.12.002","type":"journal-article","created":{"date-parts":[[2011,12,22]],"date-time":"2011-12-22T11:39:04Z","timestamp":1324553944000},"page":"146-149","source":"Crossref","is-referenced-by-count":24,"title":["Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families"],"prefix":"10.1016","volume":"315","author":[{"given":"Michela","family":"Ranieri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Del Bo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreina","family":"Bordoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Ronchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Colombo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulietta","family":"Riboldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Cosi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maura","family":"Servida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Magri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Moggio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nereo","family":"Bresolin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo P.","family":"Comi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Corti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5\u20136","key":"10.1016\/j.jns.2011.12.002_bb0005","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/j.bbamcr.2006.04.003","article-title":"Mitochondrial dynamics and disease, OPA1","volume":"1763","author":"Olichon","year":"2006","journal-title":"Biochim Biophys Acta"},{"issue":"4","key":"10.1016\/j.jns.2011.12.002_bb0010","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1016\/j.ajo.2006.12.038","article-title":"Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations","volume":"143","author":"Cohn","year":"2007","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.jns.2011.12.002_bb0015","unstructured":"Kerrison JB. Hereditary optic neuropathies. Ophthalmol Clin North Am. 2001 Mar;14(1):99\u2013107. Review."},{"key":"10.1016\/j.jns.2011.12.002_bb0020","doi-asserted-by":"crossref","unstructured":"Votruba M, Moore AT, Bhattacharya SS. Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. J Med Genet. 1998. Oct;35(10):793\u2013800. Review.","DOI":"10.1136\/jmg.35.10.793"},{"issue":"13","key":"10.1016\/j.jns.2011.12.002_bb0025","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1093\/hmg\/10.13.1359","article-title":"OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance","volume":"10","author":"Pesch","year":"2001","journal-title":"Hum Mol Genet"},{"issue":"Pt 2","key":"10.1016\/j.jns.2011.12.002_bb0030","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1093\/brain\/awm298","article-title":"OPA1 mutations induce mitochondrial DNA instability and optic atrophy \u2018plus\u2019 phenotypes","volume":"131","author":"Amati-Bonneau","year":"2008","journal-title":"Brain"},{"issue":"Pt 2","key":"10.1016\/j.jns.2011.12.002_bb0035","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1093\/brain\/awm272","article-title":"Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance","volume":"131","author":"Hudson","year":"2008","journal-title":"Brain"},{"issue":"5","key":"10.1016\/j.jns.2011.12.002_bb0040","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1002\/humu.20161","article-title":"eOPA1: an online database for OPA1 mutations","volume":"25","author":"Ferr\u00e9","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jns.2011.12.002_bb0045","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1002\/ana.410280118","article-title":"Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies","volume":"28","author":"Zeviani","year":"1990","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jns.2011.12.002_bb0050","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/S1525-1578(10)60474-6","article-title":"Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations","volume":"5","author":"Moraes","year":"2003","journal-title":"J Mol Diagn"},{"key":"10.1016\/j.jns.2011.12.002_bb0055","first-page":"2451","article-title":"Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy","volume":"14","author":"Li","year":"2008","journal-title":"Mol Vis"},{"issue":"1","key":"10.1016\/j.jns.2011.12.002_bb0060","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.cell.2006.06.025","article-title":"OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion","volume":"126","author":"Frezza","year":"2006","journal-title":"Cell"},{"issue":"10","key":"10.1016\/j.jns.2011.12.002_bb0065","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1016\/j.biocel.2009.04.012","article-title":"OPA1-associated disorders: phenotypes and pathophysiology","volume":"41","author":"Amati-Bonneau","year":"2009","journal-title":"Int J Biochem Cell Biol"},{"issue":"Pt 4","key":"10.1016\/j.jns.2011.12.002_bb0070","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/brain\/awq288","article-title":"OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy","volume":"134","author":"Yu-Wai-Man","year":"2011","journal-title":"Brain"},{"issue":"4","key":"10.1016\/j.jns.2011.12.002_bb0075","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.mito.2009.03.001","article-title":"Mitochondrial disorder with OPA1 mutation lacking optic atrophy","volume":"9","author":"Milone","year":"2009","journal-title":"Mitochondrion"},{"issue":"1","key":"10.1016\/j.jns.2011.12.002_bb0080","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1186\/1471-2350-12-49","article-title":"Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy","volume":"12","author":"Almind","year":"2011","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.jns.2011.12.002_bb0085","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1136\/jmg.2007.054270","article-title":"Inherited mitochondrial optic neuropathies","volume":"46","author":"Yu-Wai-Man","year":"2009","journal-title":"J Med Genet"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X11007143?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X11007143?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,6,21]],"date-time":"2019-06-21T06:31:33Z","timestamp":1561098693000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X11007143"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4]]},"references-count":17,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["S0022510X11007143"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2011.12.002","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2012,4]]}}}