{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:36:56Z","timestamp":1791250616925,"version":"4.1.0"},"reference-count":80,"publisher":"Frontiers Media SA","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Front. Neurol."],"DOI":"10.3389\/fneur.2014.00141","type":"journal-article","created":{"date-parts":[[2014,7,31]],"date-time":"2014-07-31T13:03:53Z","timestamp":1406811833000},"source":"Crossref","is-referenced-by-count":49,"title":["Medical Management of Hereditary Optic Neuropathies"],"prefix":"10.3389","volume":"5","author":[{"given":"Chiara","family":"La Morgia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Carbonelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piero","family":"Barboni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo Arrigo","family":"Sadun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio","family":"Carelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2014,7,31]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.preteyeres.2010.11.002","article-title":"Mitochondrial optic neuropathies-disease mechanisms and therapeutic strategies","volume":"30","author":"Yu-Wai-Man","year":"2011","journal-title":"Prog Retin Eye Res"},{"key":"B2","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1016\/j.bbabio.2009.02.024","article-title":"Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders","volume":"1787","author":"Carelli","year":"2009","journal-title":"Biochim Biophys Acta"},{"key":"B3","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1093\/brain\/awm298","article-title":"OPA1 mutations induce mitochondrial DNA instability and optic atrophy \u00e2\u20ac\u0153plus\u00e2\u20ac\u009d phenotypes","volume":"131","author":"Amati-Bonneau","year":"2008","journal-title":"Brain"},{"key":"B4","doi-asserted-by":"publisher","first-page":"916","DOI":"10.1002\/1531-8249(199912)46:6916::AID-ANA163.0.CO;2-R","article-title":"The mitochondrial DNA G13513A transition in ND5 is associated with a LHON\/MELAS overlap syndrome and may be a frequent cause of MELAS","volume":"46","author":"Pulkes","year":"1999","journal-title":"Ann Neurol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/0022-510X(64)90054-1","article-title":"A sex-linked heredo-degenerative neurological disorder, associated with Leber\u00e2\u20ac\u2122s optic atrophy. I. Clinical studies","volume":"1","author":"Bruyn","year":"1964","journal-title":"J Neurol Sci"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1053","DOI":"10.1212\/WNL.36.8.1053","article-title":"Leber\u00e2\u20ac\u2122s disease and dystonia: a mitochondrial disease","volume":"36","author":"Novotny","year":"1986","journal-title":"Neurology"},{"key":"B7","doi-asserted-by":"publisher","first-page":"2049","DOI":"10.1212\/WNL.0b013e318294b44c","article-title":"Phenotypic heterogeneity of the 8344A G mtDNA \u00e2\u20ac\u0153MERRF\u00e2\u20ac\u009d mutation","volume":"80","author":"Mancuso","year":"2013","journal-title":"Neurology"},{"key":"B8","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1001\/archneurol.2011.124","article-title":"Novel POLG splice site mutation and optic atrophy","volume":"68","author":"Milone","year":"2011","journal-title":"Arch Neurol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1093\/brain\/awn269","article-title":"Visual system involvement in patients with Friedreich\u00e2\u20ac\u2122s ataxia","volume":"132","author":"Fortuna","year":"2009","journal-title":"Brain"},{"key":"B10","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1093\/brain\/awr323","article-title":"The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy \u00e2\u20ac\u0153plus\u00e2\u20ac\u009d phenotype","volume":"135","author":"Rouzier","year":"2012","journal-title":"Brain"},{"key":"B11","doi-asserted-by":"publisher","first-page":"1034","DOI":"10.1002\/mds.25033","article-title":"The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome","volume":"27","author":"Ha","year":"2012","journal-title":"Mov Disord"},{"key":"B12","doi-asserted-by":"publisher","first-page":"2980","DOI":"10.1093\/brain\/aws240","article-title":"Spastic paraplegia gene 7 in patients with spasticity and\/or optic neuropathy","volume":"135","author":"Klebe","year":"2012","journal-title":"Brain"},{"key":"B13","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1097\/MOP.0b013e328354ccdf","article-title":"Wolfram syndrome 1 and Wolfram syndrome 2","volume":"24","author":"Rigoli","year":"2012","journal-title":"Curr Opin Pediatr"},{"key":"B14","doi-asserted-by":"publisher","first-page":"e23024","DOI":"10.1371\/journal.pone.0023024","article-title":"Temporal retinal nerve fiber loss in patients with spinocerebellar ataxia type 1","volume":"6","author":"Stricker","year":"2011","journal-title":"PLoS One"},{"issue":"Pt 6","key":"B15","doi-asserted-by":"publisher","first-page":"1643","DOI":"10.1093\/brain\/awu069","article-title":"Narcolepsy is a common phenotype in HSAN IE and ADCA-DN","volume":"37","author":"Moghadam","year":"2014","journal-title":"Brain"},{"key":"B16","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1097\/WCO.0b013e32835c5f0b","article-title":"Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options","volume":"26","author":"Carelli","year":"2013","journal-title":"Curr Opin Neurol"},{"key":"B17","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.preteyeres.2003.10.003","article-title":"Mitochondrial dysfunction as a cause of optic neuropathies","volume":"23","author":"Carelli","year":"2004","journal-title":"Prog Retin Eye Res"},{"key":"B18","doi-asserted-by":"publisher","first-page":"e42242","DOI":"10.1371\/journal.pone.0042242","article-title":"Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber\u00e2\u20ac\u2122s hereditary optic neuropathy","volume":"7","author":"Achilli","year":"2012","journal-title":"PLoS One"},{"key":"B19","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1001\/archopht.117.6.805","article-title":"Genetic heterogeneity of dominant optic atrophy, Kjer type: identification of a second locus on chromosome 18q12.2-12.3","volume":"117","author":"Kerrison","year":"1999","journal-title":"Arch Ophthalmol"},{"key":"B20","doi-asserted-by":"publisher","first-page":"e1","DOI":"10.1136\/jmg.2004.025502","article-title":"A third locus for dominant optic atrophy on chromosome 22q","volume":"42","author":"Barbet","year":"2005","journal-title":"J Med Genet"},{"key":"B21","doi-asserted-by":"publisher","first-page":"1893","DOI":"10.1093\/hmg\/ddr071","article-title":"A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16","volume":"20","author":"Carelli","year":"2011","journal-title":"Hum Mol Genet"},{"key":"B22","doi-asserted-by":"publisher","first-page":"e110","DOI":"10.1136\/jmg.2003.016576","article-title":"OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract","volume":"41","author":"Reynier","year":"2004","journal-title":"J Med Genet"},{"key":"B23","doi-asserted-by":"publisher","first-page":"1298","DOI":"10.1002\/ajmg.a.33970","article-title":"Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment","volume":"155A","author":"Rendtorff","year":"2011","journal-title":"Am J Med Genet A"},{"key":"B24","doi-asserted-by":"publisher","first-page":"1218","DOI":"10.1086\/324651","article-title":"Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews","volume":"69","author":"Anikster","year":"2001","journal-title":"Am J Hum Genet"},{"key":"B25","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1086\/514884","article-title":"A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome","volume":"61","author":"Assink","year":"1997","journal-title":"Am J Hum Genet"},{"key":"B26","doi-asserted-by":"publisher","first-page":"966","DOI":"10.1038\/sj.ejhg.5201070","article-title":"A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q","volume":"11","author":"Barbet","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"B27","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1016\/j.ajhg.2009.03.003","article-title":"TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy","volume":"84","author":"Hanein","year":"2009","journal-title":"Am J Hum Genet"},{"key":"B28","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1016\/j.ajo.2005.03.017","article-title":"Hereditary optic neuropathies: from the mitochondria to the optic nerve","volume":"140","author":"Newman","year":"2005","journal-title":"Am J Ophthalmol"},{"key":"B29","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1016\/j.ophtha.2009.07.026","article-title":"Natural history of Leber\u00e2\u20ac\u2122s hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography","volume":"117","author":"Barboni","year":"2010","journal-title":"Ophthalmology"},{"key":"B30","doi-asserted-by":"publisher","first-page":"2426","DOI":"10.1093\/brain\/awq155","article-title":"Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies","volume":"133","author":"La Morgia","year":"2010","journal-title":"Brain"},{"key":"B31","doi-asserted-by":"publisher","first-page":"4471","DOI":"10.1167\/iovs.12-11137","article-title":"The pupil light reflex in Leber\u00e2\u20ac\u2122s hereditary optic neuropathy: evidence for preservation of melanopsin-expressing retinal ganglion cells","volume":"54","author":"Moura","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"B32","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.exer.2013.11.005","article-title":"Pupil responses derived from outer and inner retinal photoreception are normal in patients with hereditary optic neuropathy","volume":"120","author":"Kawasaki","year":"2014","journal-title":"Exp Eye Res"},{"key":"B33","doi-asserted-by":"publisher","first-page":"6893","DOI":"10.1167\/iovs.13-12894","article-title":"Retinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber\u00e2\u20ac\u2122s hereditary optic neuropathy","volume":"54","author":"Ziccardi","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"B34","first-page":"10","article-title":"Visual recovery in patients with Leber\u00e2\u20ac\u2122s hereditary optic neuropathy and the 11778 mutation","volume":"12","author":"Stone","year":"1992","journal-title":"J Clin Neuroophthalmol"},{"key":"B35","doi-asserted-by":"publisher","first-page":"e188","DOI":"10.1093\/brain\/awr180","article-title":"Idebenone treatment in Leber\u00e2\u20ac\u2122s hereditary optic neuropathy","volume":"134","author":"Carelli","year":"2011","journal-title":"Brain"},{"key":"B36","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1093\/brain\/awq276","article-title":"Oestrogens ameliorate mitochondrial dysfunction in Leber\u00e2\u20ac\u2122s hereditary optic neuropathy","volume":"134","author":"Giordano","year":"2011","journal-title":"Brain"},{"key":"B37","first-page":"77","article-title":"Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation","volume":"57","author":"Harding","year":"1995","journal-title":"Am J Hum Genet"},{"key":"B38","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1086\/501236","article-title":"Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees","volume":"78","author":"Carelli","year":"2006","journal-title":"Am J Hum Genet"},{"key":"B39","doi-asserted-by":"publisher","first-page":"702","DOI":"10.1111\/ceo.12086","article-title":"Mitochondrial optic neuropathies: our travels from bench to bedside and back again","volume":"41","author":"Sadun","year":"2013","journal-title":"Clin Experiment Ophthalmol"},{"key":"B40","doi-asserted-by":"publisher","first-page":"2317","DOI":"10.1093\/brain\/awp158","article-title":"Gene-environment interactions in Leber hereditary optic neuropathy","volume":"132","author":"Kirkman","year":"2009","journal-title":"Brain"},{"key":"B41","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1136\/jnnp.59.2.160","article-title":"Leber\u00e2\u20ac\u2122s \u00e2\u20ac\u0153plus\u00e2\u20ac\u009d: neurological abnormalities in patients with Leber\u00e2\u20ac\u2122s hereditary optic neuropathy","volume":"59","author":"Nikoskelainen","year":"1995","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"B42","doi-asserted-by":"publisher","first-page":"762","DOI":"10.1212\/01.wnl.0000295505.74234.d0","article-title":"Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus","volume":"70","author":"La Morgia","year":"2008","journal-title":"Neurology"},{"key":"B43","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1136\/jnnp.72.6.805","article-title":"Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber\u00e2\u20ac\u2122s hereditary optic neuropathy","volume":"72","author":"Lodi","year":"2002","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"B44","doi-asserted-by":"publisher","first-page":"640","DOI":"10.1136\/jnnp.58.5.640","article-title":"Abnormal lactate after effort in healthy carriers of Leber\u00e2\u20ac\u2122s hereditary optic neuropathy","volume":"58","author":"Montagna","year":"1995","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"B45","first-page":"51","article-title":"Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study","volume":"104","author":"Sadun","year":"2006","journal-title":"Trans Am Ophthalmol Soc"},{"key":"B46","doi-asserted-by":"publisher","first-page":"985","DOI":"10.5301\/ejo.5000154","article-title":"Retinal nerve fiber layer thickness variability in Leber hereditary optic neuropathy carriers","volume":"22","author":"Barboni","year":"2012","journal-title":"Eur J Ophthalmol"},{"key":"B47","doi-asserted-by":"publisher","first-page":"2362","DOI":"10.1167\/iovs.06-0331","article-title":"Male prevalence of acquired color vision defects in asymptomatic carriers of Leber\u00e2\u20ac\u2122s hereditary optic neuropathy","volume":"48","author":"Ventura","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"B48","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1007\/s10633-010-9241-2","article-title":"Visual evoked potentials findings in non-affected subjects from a large Brazilian pedigree of 11778 Leber\u00e2\u20ac\u2122s hereditary optic neuropathy","volume":"121","author":"Sacai","year":"2010","journal-title":"Doc Ophthalmol"},{"key":"B49","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1038\/79936","article-title":"Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy","volume":"26","author":"Delettre","year":"2000","journal-title":"Nat Genet"},{"key":"B50","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1038\/79944","article-title":"OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28","volume":"26","author":"Alexander","year":"2000","journal-title":"Nat Genet"},{"key":"B51","doi-asserted-by":"publisher","first-page":"793","DOI":"10.1136\/jmg.35.10.793","article-title":"Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy","volume":"35","author":"Votruba","year":"1998","journal-title":"J Med Genet"},{"key":"B52","doi-asserted-by":"publisher","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":"B53","doi-asserted-by":"publisher","first-page":"2076","DOI":"10.1016\/j.ophtha.2011.02.027","article-title":"Retinal nerve fiber layer thickness in dominant optic atrophy measurements by optical coherence tomography and correlation with age","volume":"118","author":"Barboni","year":"2011","journal-title":"Ophthalmology"},{"key":"B54","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1136\/bjo.87.1.48","article-title":"Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy","volume":"87","author":"Votruba","year":"2003","journal-title":"Br J Ophthalmol"},{"key":"B55","doi-asserted-by":"publisher","first-page":"1547","DOI":"10.1016\/j.ophtha.2009.12.042","article-title":"OPA1 mutations associated with dominant optic atrophy influence optic nerve head size","volume":"117","author":"Barboni","year":"2010","journal-title":"Ophthalmology"},{"key":"B56","doi-asserted-by":"publisher","first-page":"e56350","DOI":"10.1371\/journal.pone.0056350","article-title":"Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy","volume":"8","author":"Perganta","year":"2013","journal-title":"PLoS One"},{"key":"B57","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1023\/A:1001844021014","article-title":"Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter","volume":"95","author":"Holder","year":"1999","journal-title":"Doc Ophthalmol"},{"key":"B58","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1093\/brain\/awq007","article-title":"Multi-system neurological disease is common in patients with OPA1 mutations","volume":"133","author":"Yu-Wai-Man","year":"2010","journal-title":"Brain"},{"key":"B59","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1111\/j.1600-0420.2005.00448.x","article-title":"Dominant optic atrophy: correlation between clinical and molecular genetic studies","volume":"83","author":"Puomila","year":"2005","journal-title":"Acta Ophthalmol Scand"},{"key":"B60","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1136\/bjo.84.5.534","article-title":"Variable pattern of visual recovery of Leber\u00e2\u20ac\u2122s hereditary optic neuropathy","volume":"84","author":"Nakamura","year":"2000","journal-title":"Br J Ophthalmol"},{"key":"B61","doi-asserted-by":"publisher","first-page":"e231","DOI":"10.1093\/brain\/aws280","article-title":"Idebenone treatment in patients with OPA1-mutant dominant optic atrophy","volume":"136","author":"Barboni","year":"2013","journal-title":"Brain"},{"key":"B62","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1002\/ana.21376","article-title":"Reversible optic neuropathy with OPA1 exon 5b mutation","volume":"63","author":"Cornille","year":"2008","journal-title":"Ann Neurol"},{"key":"B63","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1097\/WNO.0b013e31829d1f5b","article-title":"Evaluation of fixation pattern and reading ability in patients with Leber hereditary optic neuropathy","volume":"33","author":"Altpeter","year":"2013","journal-title":"J Neuroophthalmol"},{"key":"B64","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1038\/nrneurol.2013.129","article-title":"New treatments for mitochondrial disease-no time to drop our standards","volume":"9","author":"Pfeffer","year":"2013","journal-title":"Nat Rev Neurol"},{"key":"B65","doi-asserted-by":"publisher","first-page":"2677","DOI":"10.1093\/brain\/awr170","article-title":"A randomized placebo-controlled trial of idebenone in Leber\u00e2\u20ac\u2122s hereditary optic neuropathy","volume":"134","author":"Klopstock","year":"2011","journal-title":"Brain"},{"key":"B66","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/S1096-7192(02)00145-2","article-title":"Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits","volume":"77","author":"Geromel","year":"2002","journal-title":"Mol Genet Metab"},{"key":"B67","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1097\/WNO.0b013e318272c643","article-title":"Effects of idebenone on color vision in patients with leber hereditary optic neuropathy","volume":"33","author":"Rudolph","year":"2013","journal-title":"J Neuroophthalmol"},{"key":"B68","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1093\/brain\/awm335","article-title":"OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion","volume":"131","author":"Zanna","year":"2008","journal-title":"Brain"},{"key":"B69","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1001\/archneurol.2011.2972","article-title":"Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy","volume":"69","author":"Sadun","year":"2012","journal-title":"Arch Neurol"},{"key":"B70","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1093\/brain\/awt343","article-title":"Efficient mitochondrial biogenesis drives incomplete penetrance in Leber\u00e2\u20ac\u2122s hereditary optic neuropathy","volume":"137","author":"Giordano","year":"2014","journal-title":"Brain"},{"key":"B71","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1002\/ddrr.109","article-title":"Emerging therapeutic approaches to mitochondrial diseases","volume":"16","author":"Wenz","year":"2010","journal-title":"Dev Disabil Res Rev"},{"key":"B72","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1002\/ana.10354","article-title":"Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy","volume":"52","author":"Guy","year":"2002","journal-title":"Ann Neurol"},{"key":"B73","doi-asserted-by":"publisher","first-page":"1707","DOI":"10.1016\/j.bbamcr.2008.04.018","article-title":"The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes","volume":"1783","author":"Bonnet","year":"2008","journal-title":"Biochim Biophys Acta"},{"key":"B74","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1016\/j.ajhg.2008.08.013","article-title":"Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction","volume":"83","author":"Ellouze","year":"2008","journal-title":"Am J Hum Genet"},{"key":"B75","doi-asserted-by":"publisher","first-page":"4205","DOI":"10.1167\/iovs.08-3214","article-title":"Efficiency and safety of AAV-mediated gene delivery of the human ND4 complex I subunit in the mouse visual system","volume":"50","author":"Guy","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"B76","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1093\/nar\/gkq769","article-title":"Allotopic expression of mitochondrial-encoded genes in mammals: achieved goal, undemonstrated mechanism or impossible task?","volume":"39","author":"Perales-Clemente","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"B77","doi-asserted-by":"publisher","first-page":"E1238","DOI":"10.1073\/pnas.1119577109","article-title":"Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber\u00e2\u20ac\u2122s hereditary optic neuropathy in a mouse model","volume":"109","author":"Yu","year":"2012","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B78","doi-asserted-by":"publisher","first-page":"2240","DOI":"10.1056\/NEJMoa0802315","article-title":"Safety and efficacy of gene transfer for Leber\u00e2\u20ac\u2122s congenital amaurosis","volume":"358","author":"Maguire","year":"2008","journal-title":"N Engl J Med"},{"key":"B79","doi-asserted-by":"publisher","first-page":"1283","DOI":"10.1016\/j.ophtha.2012.11.048","article-title":"Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital amaurosis type 2","volume":"120","author":"Testa","year":"2013","journal-title":"Ophthalmology"},{"key":"B80","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1093\/brain\/awr290","article-title":"Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy","volume":"135","author":"Bouaita","year":"2012","journal-title":"Brain"}],"container-title":["Frontiers in Neurology"],"original-title":[],"deposited":{"date-parts":[[2017,6,22]],"date-time":"2017-06-22T17:40:33Z","timestamp":1498153233000},"score":1,"resource":{"primary":{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fneur.2014.00141\/abstract"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,31]]},"references-count":80,"URL":"https:\/\/doi.org\/10.3389\/fneur.2014.00141","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,31]]}}}