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2. eOPA1: an online database for OPA1 mutations. Ferré M; Amati-Bonneau P; Tourmen Y; Malthièry Y; Reynier P Hum Mutat; 2005 May; 25(5):423-8. PubMed ID: 15832306 [TBL] [Abstract][Full Text] [Related]
3. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Payne M; Yang Z; Katz BJ; Warner JE; Weight CJ; Zhao Y; Pearson ED; Treft RL; Hillman T; Kennedy RJ; Meire FM; Zhang K Am J Ophthalmol; 2004 Nov; 138(5):749-55. PubMed ID: 15531309 [TBL] [Abstract][Full Text] [Related]
4. OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database. Le Roux B; Lenaers G; Zanlonghi X; Amati-Bonneau P; Chabrun F; Foulonneau T; Caignard A; Leruez S; Gohier P; Procaccio V; Milea D; den Dunnen JT; Reynier P; Ferré M Orphanet J Rare Dis; 2019 Sep; 14(1):214. PubMed ID: 31500643 [TBL] [Abstract][Full Text] [Related]
5. Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy. Ham M; Han J; Osann K; Smith M; Kimonis V Mitochondrion; 2019 May; 46():262-269. PubMed ID: 30165240 [TBL] [Abstract][Full Text] [Related]
6. Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Baris O; Delettre C; Amati-Bonneau P; Surget MO; Charlin JF; Catier A; Derieux L; Guyomard JL; Dollfus H; Jonveaux P; Ayuso C; Maumenee I; Lorenz B; Mohammed S; Tourmen Y; Bonneau D; Malthièry Y; Hamel C; Reynier P Hum Mutat; 2003 Jun; 21(6):656. PubMed ID: 14961560 [TBL] [Abstract][Full Text] [Related]
7. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Thiselton DL; Alexander C; Taanman JW; Brooks S; Rosenberg T; Eiberg H; Andreasson S; Van Regemorter N; Munier FL; Moore AT; Bhattacharya SS; Votruba M Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1715-24. PubMed ID: 12036970 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family. Ahmad KE; Davis RL; Sue CM J Neurol; 2015 Oct; 262(10):2323-8. PubMed ID: 26194196 [TBL] [Abstract][Full Text] [Related]
11. Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy. Ahuja AS; Selvam P; Vadlamudi C; Chopra H; Richter JE; Macklin SK; Samreen A; Helmi H; Mohammaad AN; Hines S; Davila MC; Atwal PS; Caulfield TR Ophthalmic Genet; 2020 Dec; 41(6):563-569. PubMed ID: 32940104 [TBL] [Abstract][Full Text] [Related]
12. Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. Li C; Kosmorsky G; Zhang K; Katz BJ; Ge J; Traboulsi EI Am J Med Genet A; 2005 Oct; 138A(3):208-11. PubMed ID: 16158427 [TBL] [Abstract][Full Text] [Related]
13. [Not only optic neuropathy: new molecular and clinical aspects of OPA1 gene mutations]. Ołdak M; Sciezyńska A; Szulborski K; Szaflik JP; Szaflik J Klin Oczna; 2014; 116(1):52-8. PubMed ID: 25137924 [TBL] [Abstract][Full Text] [Related]
15. Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Bonifert T; Karle KN; Tonagel F; Batra M; Wilhelm C; Theurer Y; Schoenfeld C; Kluba T; Kamenisch Y; Carelli V; Wolf J; Gonzalez MA; Speziani F; Schüle R; Züchner S; Schöls L; Wissinger B; Synofzik M Brain; 2014 Aug; 137(Pt 8):2164-77. PubMed ID: 24970096 [TBL] [Abstract][Full Text] [Related]
16. First Description of Inheritance of a Postzygotic Alter S; Farassat N; Küchlin S; Lagrèze WA; Fischer J Genes (Basel); 2022 Mar; 13(3):. PubMed ID: 35328032 [TBL] [Abstract][Full Text] [Related]
17. A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation. Liguori M; La Russa A; Manna I; Andreoli V; Caracciolo M; Spadafora P; Cittadella R; Quattrone A J Neurol; 2008 Jan; 255(1):127-9. PubMed ID: 18204809 [No Abstract] [Full Text] [Related]
18. Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. Nakamura M; Lin J; Ueno S; Asaoka R; Hirai T; Hotta Y; Miyake Y; Terasaki H Ophthalmology; 2006 Mar; 113(3):483-488.e1. PubMed ID: 16513463 [TBL] [Abstract][Full Text] [Related]
19. Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. Kim JY; Hwang JM; Ko HS; Seong MW; Park BJ; Park SS Neurology; 2005 Mar; 64(6):966-72. PubMed ID: 15781809 [TBL] [Abstract][Full Text] [Related]
20. First cases of dominant optic atrophy in Saudi Arabia: report of two novel OPA1 mutations. Galvez-Ruiz A; Neuhaus C; Bergmann C; Bolz H J Neuroophthalmol; 2013 Dec; 33(4):349-53. PubMed ID: 24051421 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]