Occurrence of a multiple sclerosis-like illness in women who have a leber's hereditary optic neuropathy mitochondrial DNA mutationHARDING, A. E; SWEENEY, M. G; MILLER, D. H et al.Brain. 1992, Vol 115, pp 979-989, issn 0006-8950, 4Article

An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congénital amaurosisHEEGAARD, S; ROSENBERG, T; PREISING, M et al.British journal of ophthalmology. 2003, Vol 87, Num 8, pp 980-983, issn 0007-1161, 4 p.Article

La neurorétinite stellaire idiopathique de Leber : à propos de neuf cas = Leber's idiopathic stellate neuroretinitis. Report of nine casesHAMARD, P; HAMARD, H; NGOHOU, S et al.Journal français d'ophtalmologie. 1994, Vol 17, Num 2, pp 116-123, issn 0181-5512Article

Does sporadic Leber's disease exist?NIKOSKELAINEN, E; NUMMELIN, K; SAVONTAUS, M.-L et al.Journal of clinical neuro-ophthalmology. 1988, Vol 8, Num 4, pp 225-229, issn 0272-846XArticle

Neuroretinite stellata idiopatica di Leber: a manifestazione bilaterale asincrona. Caso clinico = Leber's idiopathic stellate neuroretinitis with asynchronous bilateral onset: case reportCOLOMBATI, S; PASANISI, P; LOSAVIO, P et al.Annali di ottalmologia e clinica oculistica. 1993, Vol 119, Num 12, pp 853-856, issn 0003-4665Article

Evidence against an X-linked locus close to DX37 determining visual loss susceptibility in British and Italian families with leber hereditary optic neuropathySWEENEY, M. G; DAVIS, M. B; LASHWOOD, A et al.American journal of human genetics. 1992, Vol 51, Num 4, pp 741-748, issn 0002-9297Article

Les altérations de l'ADN mitochondrial dans la névrite optique de Leber : applications diagnostiques = Alterations of mitichondrial DNA in Leber's hereditary optic neuropathy diagnostical applicationsPUECH, B; DUMUR, V; HACHE, J.-C et al.Bulletin des sociétés d'ophtalmologie de France. 1991, Vol 91, Num 3, pp 313-317, issn 0081-1270Article

Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosisLAMBERT, S. R; KRISS, A; TAYLOR, D et al.American journal of ophthalmology. 1989, Vol 107, Num 6, pp 624-631, issn 0002-9394Article

The Leber Congenital Amaurosis Protein AIPL1 Functions as Part of a Chaperone HeterocomplexHIDALGO-DE-QUINTANA, Juan; EVANS, R. Jane; CHEETHAM, Michael E et al.Investigative ophthalmology & visual science. 2008, Vol 49, Num 7, pp 2878-2887, issn 0146-0404, 10 p.Article

RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expressionJACOBSON, Samuel G; CIDECIYAN, Artur V; ALEMAN, Tomas S et al.Investigative ophthalmology & visual science. 2007, Vol 48, Num 1, pp 332-338, issn 0146-0404, 7 p.Article

PEX1 deficiency presenting as Leber congenital amaurosisMICHELAKAKIS, Helen M; ZAFEIRIOU, Dimitrios I; MORAITOU, Marina S et al.Pediatric neurology. 2004, Vol 31, Num 2, pp 146-149, issn 0887-8994, 4 p.Article

Leber hereditary optic neuropathy : involvement of the mitochondrial NDI gene and evidence for an intragenic suppressor mutationHOWELL, N; KUBACKA, I; XU, M et al.American journal of human genetics. 1991, Vol 48, Num 5, pp 935-942, issn 0002-9297Article

Characteristics of infantile autism in five children with Leber's congenital amaurosisROGERS, S. J; NEWHART-LARSON, S.Developmental medicine and child neurology (Print). 1989, Vol 31, Num 5, pp 598-608, issn 0012-1622Article

Mutations in LCA5, encoding the ciliary protein lebercilin, cause leber congenital amaurosisDEN HOLLANDER, Anneke I; KOENEKOOP, Robert K; DHARMARAJ, Sharola et al.Nature genetics. 2007, Vol 39, Num 7, pp 889-895, issn 1061-4036, 7 p.Article

Nonfamilial and unusual cases of Leber's hereditary optic neuropathy identified by mitochondrial DNA analysisISASHIKI, Y; OHBA, N; SAWADA, A et al.Japanese journal of ophthalmology. 1992, Vol 36, Num 2, pp 197-204, issn 0021-5155Article

Leber herediatry optic neuropathy : identification of the same mitochondrial NDI mutation in six pedigreesHOWELL, N; BINDOFF, L. A; MCCULLOUGH, D. A et al.American journal of human genetics. 1991, Vol 49, Num 5, pp 939-950, issn 0002-9297Article

Clinical spectrum of Leber's congenital amaurosis in the second to fourth decades of lifeSMITH, D; OESTREICHER, J; MUSARELLA, M. A et al.Ophthalmology (Rochester, MN). 1990, Vol 97, Num 9, pp 1156-1161, issn 0161-6420, 6 p.Article

Leber's hereditary optic atrophy : an atypical case with response to hydroxycobalamine therapyCHEW, S. J.Singapore medical journal. 1990, Vol 31, Num 3, pp 293-294, issn 0037-5675Article

NMNAT1 mutations cause Leber congenital amaurosisFALK, Marni J; QI ZHANG; STANISZEWSKA, Magdalena et al.Nature genetics. 2012, Vol 44, Num 9, pp 1040-1045, issn 1061-4036, 6 p.Article

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosisWISZNIEWSKI, Wojciech; LEWIS, Richard Alan; STOCKTON, David W et al.Human genetics. 2011, Vol 129, Num 3, pp 319-327, issn 0340-6717, 9 p.Article

Leber's congenital amaurosis in 22 affected members of one familyAL-SALEM, M.Journal of pediatric ophthalmology and strabismus. 1997, Vol 34, Num 4, pp 254-257, issn 0191-3913Article

Leber's hereditary optic neuropathyVOLPE, N. J; LESSELL, S.International ophthalmology clinics. 1993, Vol 33, Num 2, pp 153-168, issn 0020-8167Article

Remission of Leber's hereditary optic neuropathy with idebenoneMASHIMA, Y; HIIDA, Y; OGUCHI, Y et al.Lancet (British edition). 1992, Vol 340, Num 8815, pp 368-369, issn 0140-6736Article

Amaurose congénitale de Leber et hypermétropie = Hyperopia in Leber's congenital amaurosisKHUNE, F; COMTE, P; VERIN, P et al.Bulletin des sociétés d'ophtalmologie de France. 1988, Vol 88, Num 6-7, pp 829-831, issn 0081-1270Article

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosisCHIANG, Pei-Wen; JUAN WANG; YANLING CHEN et al.Nature genetics. 2012, Vol 44, Num 9, pp 972-974, issn 1061-4036, 3 p.Article