276 related articles for article (PubMed ID: 32940104)
1. 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]
2. Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.
Formichi P; Radi E; Giorgi E; Gallus GN; Brunetti J; Battisti C; Rufa A; Dotti MT; Franceschini R; Bracci L; Federico A
J Neurol Sci; 2015 Apr; 351(1-2):99-108. PubMed ID: 25796301
[TBL] [Abstract][Full Text] [Related]
3. Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Xu X; Wang P; Jia X; Sun W; Li S; Xiao X; Hejtmancik JF; Zhang Q
Mol Genet Genomics; 2021 Jul; 296(4):845-862. PubMed ID: 33884488
[TBL] [Abstract][Full Text] [Related]
4. Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.
Li H; Jones EM; Li H; Yang L; Sun Z; Yuan Z; Chen R; Dong F; Sui R
Ophthalmic Genet; 2018 Oct; 39(5):569-576. PubMed ID: 29952689
[TBL] [Abstract][Full Text] [Related]
5. Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.
Han J; Li Y; You Y; Fan K; Lei B
BMC Ophthalmol; 2022 Jul; 22(1):322. PubMed ID: 35883160
[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. Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations.
Ito Y; Nakamura M; Yamakoshi T; Lin J; Yatsuya H; Terasaki H
Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4079-86. PubMed ID: 17724190
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree.
Jin X; Chen YH; Liu Z; Deng Y; Li NN; Huang H; Qi M; Yi X; Zhu J
Genet Mol Res; 2015 Sep; 14(3):10961-72. PubMed ID: 26400325
[TBL] [Abstract][Full Text] [Related]
12. Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.
Rönnbäck C; Nissen C; Almind GJ; Grønskov K; Milea D; Larsen M
Acta Ophthalmol; 2015 Dec; 93(8):762-6. PubMed ID: 26385429
[TBL] [Abstract][Full Text] [Related]
13. A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family.
Zhang L; Shi W; Song L; Zhang X; Cheng L; Wang Y; Ge X; Li W; Zhang W; Min Q; Jin ZB; Qu J; Gu F
Sci Rep; 2014 Nov; 4():6936. PubMed ID: 25374051
[TBL] [Abstract][Full Text] [Related]
14. Molecular Impairment Mechanisms of Novel OPA1 Mutations Predicted by Molecular Modeling in Patients With Autosomal Dominant Optic Atrophy and Auditory Neuropathy Spectrum Disorder.
Namba K; Mutai H; Takiguchi Y; Yagi H; Okuyama T; Oba S; Yamagishi R; Kaneko H; Shintani T; Kaga K; Matsunaga T
Otol Neurotol; 2016 Apr; 37(4):394-402. PubMed ID: 26905822
[TBL] [Abstract][Full Text] [Related]
15. Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.
Davies VJ; Hollins AJ; Piechota MJ; Yip W; Davies JR; White KE; Nicols PP; Boulton ME; Votruba M
Hum Mol Genet; 2007 Jun; 16(11):1307-18. PubMed ID: 17428816
[TBL] [Abstract][Full Text] [Related]
16. Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy.
Almind GJ; Grønskov K; Milea D; Larsen M; Brøndum-Nielsen K; Ek J
BMC Med Genet; 2011 Apr; 12():49. PubMed ID: 21457585
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy.
Mayorov VI; Lowrey AJ; Biousse V; Newman NJ; Cline SD; Brown MD
BMC Biochem; 2008 Sep; 9():22. PubMed ID: 18783614
[TBL] [Abstract][Full Text] [Related]
19. Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy.
Dadgar S; Hagens O; Dadgar SR; Haghighi EN; Schimpf S; Wissinger B; Garshasbi M
Exp Eye Res; 2006 Sep; 83(3):702-6. PubMed ID: 16698014
[TBL] [Abstract][Full Text] [Related]
20. A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.
Alavi MV; Bette S; Schimpf S; Schuettauf F; Schraermeyer U; Wehrl HF; Ruttiger L; Beck SC; Tonagel F; Pichler BJ; Knipper M; Peters T; Laufs J; Wissinger B
Brain; 2007 Apr; 130(Pt 4):1029-42. PubMed ID: 17314202
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]