| 1 | Overexpression of optic atrophy 1 protein increases c isplatin resistance via inactivation of caspase-dependent apoptosis in lung ade nocarcinoma cells. (21798574) | Fang H.Y.... Chow K.C. | 2012 | OPA1 |
| 2 | Identification of p.A684V missense mutation in the WF S1 gene as a frequent cause of autosomal dominant optic atrophy and hearing imp airment. (21538838) | Rendtorff N.D.... Tranebjaerg L. | 2011 | WFS1 |
| 3 | Novel POLG splice site mutation and optic atrophy. (21670405) | Milone M.... Wong L.J. | 2011 | POLG |
| 4 | OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy. (20952381) | Yu-Wai-Man P.... Chinnery P.F. | 2011 | OPA1 |
| 5 | Defective mitochondrial adenosine triphosphate produc tion in skeletal muscle from patients with dominant optic atrophy due to OPA1 m utations. (20837821) | Lodi R.... Carelli V. | 2011 | OPA1 |
| 6 | A clinically complex form of dominant optic atrophy ( OPA8) maps on chromosome 16. (21349918) | Carelli V.... Wissinger B. | 2011 | OPA8 |
| 7 | Novel mutations of the OPA1 gene in Chinese dominant optic atrophy. (19969356) | Yen M.Y.... Hsiao K.J. | 2010 | OPA1 |
| 8 | OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. (20417568) | Barboni P.... Carelli V. | 2010 | OPA1 |
| 9 | Nonsense mutation in TMEM126A causing autosomal reces sive optic atrophy and auditory neuropathy. (20405026) | Meyer E.... Maher E.R. | 2010 | TMEM126A |
| 10 | Alu-element insertion in an OPA1 intron sequence asso ciated with autosomal dominant optic atrophy. (20157369) | Gallus G.N.... Federico A. | 2010 | OPA1 |
| 11 | OPA1 disease alleles causing dominant optic atrophy h ave defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation. (20185555) | Ban T.... Chan D.C. | 2010 | DNM3 |
| 12 | Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy. (19181907) | Fuhrmann N.... Wissinger B. | 2009 | OPA1 |
| 13 | TMEM126A, encoding a mitochondrial protein, is mutated in autosomal- recessive nonsyndromic optic atrophy. (19327736) | Hanein S.... Rozet J.M. | 2009 | TMEM126A |
| 14 | OPA1-related dominant optic atrophy is not strongly i nfluenced by mitochondrial DNA background. (19619285) | Pierron D.... Letellier T. | 2009 | OPA1 |
| 15 | Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. (19325939) | Nochez Y.... Reynier P. | 2009 | OPA1 |
| 16 | The natural history of OPA1-related autosomal dominant optic atrophy. (18653586) | Cohn A.C.... Mackey D.A. | 2008 | OPA1 |
| 17 | Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. (18065439) | Hudson G.... Taylor R.W. | 2008 | OPA1 |
| 18 | OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. (18222991) | Zanna C.... Carelli V. | 2008 | OPA1 |
| 19 | A novel mutation of the OPA1 gene responsible for isolated autosomal dominant optic atrophy in two brothers (17318099) | Macarez R.... May F. | 2007 | OPA1 |
| 20 | Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations. (17724190) | Ito Y.... Terasaki H. | 2007 | OPA1 |
| 21 | The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. (17106447) | Ruiter E.M.... Hol F.A. | 2007 | MT-ND5 |
| 22 | Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. (17306754) | Cohn A.C.... Mackey D.A. | 2007 | OPA1 |
| 23 | A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family. (17188070) | Chen S.... Liu Z. | 2007 | OPA1 |
| 24 | Prognostic DNA testing and counselling for dominant optic atrophy due to a novel OPA1 mutation. (17016536) | Yoshida S.... Ishibashi T. | 2006 | OPA1 |
| 25 | OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy. (16617242) | Han J.... Brown M.D. | 2006 | OPA1 |
| 26 | Novel OPA1 mutations identified in Japanese pedigrees with optic atrophy. (16735988) | Qin M.... Hayashi K. | 2006 | OPA1 |
| 27 | Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. (16513463) | Nakamura M.... Terasaki H. | 2006 | OPA1 |
| 28 | Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. (16158427) | Li C.... Traboulsi E.I. | 2005 | OPA1 |
| 29 | Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention. (16006781) | Hayashi T.... Kitahara K. | 2005 | OPA1 |
| 30 | Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. (15070927) | Medlej R.... Halaby G. | 2004 | WFS1 |
| 31 | Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. (15505825) | Lodi R.... Carelli V. | 2004 | OPA1 |
| 32 | OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. (15342707) | Reynier P.... Bonneau D. | 2004 | OPA3 |
| 33 | OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina. (15505078) | Pesch U.E.... Kohler K. | 2004 | CALB1, OPA1 |
| 34 | Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. (12488262) | Votruba M.... Bhattacharya S.S. | 2003 | OPA1 |
| 35 | Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. (14961560) | Baris O.... Reynier P. | 2003 | OPA1 |
| 36 | A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q. (14508503) | Barbet F.... Kaplan J. | 2003 | OPA6 |
| 37 | A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. (12036970) | Thiselton D.L.... Votruba M. | 2002 | OPA1 |
| 38 | Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. (12161614) | Marchbank N.J.... Inglehearn C.F. | 2002 | OPA1 |
| 39 | A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family. (12030328) | Delague V.... Claustres M. | 2002 | ZNF592 |
| 40 | A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype. (11306804) | Murton N.J.... Churchill A.J. | 2001 | OPA1 |
| 41 | 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. (11668429) | Anikster Y.... Elpeleg O. | 2001 | OPA3 |
| 42 | Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. (11440989) | Toomes C.... Churchill A.J. | 2001 | OPA1 |
| 43 | OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. (11440988) | Pesch U.E.A.... Wissinger B. | 2001 | OPA1 |
| 44 | OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. (11017080) | Alexander C.... Wissinger B. | 2000 | OPA1 |
| 45 | Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. (10369594) | Kerrison J.B.... Maumenee I.H. | 1999 | OPA4 |
| 46 | Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY. (9745030) | Votruba M.... Bhattacharya S.S. | 1998 | HES1 |
| 47 | A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram Syndrome). (9771706) | Inoue H.... Permutt M.A. | 1998 | WFS1, BAMBI |
| 48 | Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. (9817917) | Strom T.M.... Meitinger T. | 1998 | WFS1 |
| 49 | A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. (9382106) | Assink J.J.... Bergen A.A. | 1997 | OPA2 |
| 50 | On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms. (13703570) | GARCIN R.... CHIMENES H. | 1961 | OPA3 |
