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5. Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1. Lee J; Jung SC; Hong YB; Yoo JH; Koo H; Lee JH; Hong HD; Kim SB; Chung KW; Choi BO Mol Med Rep; 2016 Jul; 14(1):33-40. PubMed ID: 27150940 [TBL] [Abstract][Full Text] [Related]
6. [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]. GARCIN R; RAVERDY P; DELTHIL S; MAN HX; CHIMENES H Rev Neurol (Paris); 1961 May; 104():373-9. PubMed ID: 13703570 [No Abstract] [Full Text] [Related]
8. 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. Anikster Y; Kleta R; Shaag A; Gahl WA; Elpeleg O Am J Hum Genet; 2001 Dec; 69(6):1218-24. PubMed ID: 11668429 [TBL] [Abstract][Full Text] [Related]
9. Hereditary optic neuropathies share a common mitochondrial coupling defect. Chevrollier A; Guillet V; Loiseau D; Gueguen N; de Crescenzo MA; Verny C; Ferre M; Dollfus H; Odent S; Milea D; Goizet C; Amati-Bonneau P; Procaccio V; Bonneau D; Reynier P Ann Neurol; 2008 Jun; 63(6):794-8. PubMed ID: 18496845 [TBL] [Abstract][Full Text] [Related]
10. OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexia. Ayrignac X; Liauzun C; Lenaers G; Renard D; Amati-Bonneau P; de Sèze J; Dollfus H; Hamel C; Bonneau D; Labauge P Eur Neurol; 2012; 68(2):108-10. PubMed ID: 22797356 [No Abstract] [Full Text] [Related]
11. Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene. Titah SM; Meunier I; Blanchet C; Lopez S; Rondouin G; Lenaers G; Amati-Bonneau P; Reynier P; Paquis-Flucklinger V; Hamel CP Eur J Ophthalmol; 2012; 22(2):254-8. PubMed ID: 21623591 [TBL] [Abstract][Full Text] [Related]
12. Costeff optic atrophy syndrome: new clinical case and novel molecular findings. Ho G; Walter JH; Christodoulou J J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S419-23. PubMed ID: 18985435 [TBL] [Abstract][Full Text] [Related]
13. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Ferré M; Bonneau D; Milea D; Chevrollier A; Verny C; Dollfus H; Ayuso C; Defoort S; Vignal C; Zanlonghi X; Charlin JF; Kaplan J; Odent S; Hamel CP; Procaccio V; Reynier P; Amati-Bonneau P Hum Mutat; 2009 Jul; 30(7):E692-705. PubMed ID: 19319978 [TBL] [Abstract][Full Text] [Related]
14. Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation. Murakami T; Mita S; Tokunaga M; Maeda H; Ueyama H; Kumamoto T; Uchino M; Ando M J Neurol Sci; 1996 Oct; 142(1-2):111-3. PubMed ID: 8902729 [TBL] [Abstract][Full Text] [Related]
15. A missense mutation in the murine Opa3 gene models human Costeff syndrome. Davies VJ; Powell KA; White KE; Yip W; Hogan V; Hollins AJ; Davies JR; Piechota M; Brownstein DG; Moat SJ; Nichols PP; Wride MA; Boulton ME; Votruba M Brain; 2008 Feb; 131(Pt 2):368-80. PubMed ID: 18222992 [TBL] [Abstract][Full Text] [Related]
18. [A novel mutation of the OPA1 gene responsible for isolated autosomal dominant optic atrophy in two brothers]. Macarez R; Amati-Bonneau P; Burelle X; Vanimschoot M; Dot C; Ocamica P; Kovalski JL; May F J Fr Ophtalmol; 2007 Feb; 30(2):161-4. PubMed ID: 17318099 [TBL] [Abstract][Full Text] [Related]
19. Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY. Votruba M; Payne A; Moore AT; Bhattacharya SS Mamm Genome; 1998 Oct; 9(10):784-7. PubMed ID: 9745030 [TBL] [Abstract][Full Text] [Related]
20. Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of a family. Sener RN; Ustun EE; Ozkinay C; Memis A; Oyar O Pediatr Radiol; 1993; 23(4):321-4. PubMed ID: 8414767 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]