These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 14566653)

  • 1. Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene.
    Gränse L; Bergstrand I; Thiselton D; Ponjavic V; Heijl A; Votruba M; Andréasson S
    Ophthalmic Genet; 2003 Dec; 24(4):233-45. PubMed ID: 14566653
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level.
    Reis A; Mateus C; Viegas T; Florijn R; Bergen A; Silva E; Castelo-Branco M
    Graefes Arch Clin Exp Ophthalmol; 2013 Jan; 251(1):221-34. PubMed ID: 22865259
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation.
    Russo A; Delcassi L; Marchina E; Semeraro F
    Ophthalmic Genet; 2013; 34(1-2):69-74. PubMed ID: 22779427
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy.
    Heiduschka P; Schnichels S; Fuhrmann N; Hofmeister S; Schraermeyer U; Wissinger B; Alavi MV
    Invest Ophthalmol Vis Sci; 2010 Mar; 51(3):1424-31. PubMed ID: 19834041
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Reduction of oscillatory potentials and photopic negative response in patients with autosomal dominant optic atrophy with OPA1 mutations.
    Miyata K; Nakamura M; Kondo M; Lin J; Ueno S; Miyake Y; Terasaki H
    Invest Ophthalmol Vis Sci; 2007 Feb; 48(2):820-4. PubMed ID: 17251483
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
    Yu-Wai-Man P; Griffiths PG; Burke A; Sellar PW; Clarke MP; Gnanaraj L; Ah-Kine D; Hudson G; Czermin B; Taylor RW; Horvath R; Chinnery PF
    Ophthalmology; 2010 Aug; 117(8):1538-46, 1546.e1. PubMed ID: 20417570
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The natural history of OPA1-related autosomal dominant optic atrophy.
    Cohn AC; Toomes C; Hewitt AW; Kearns LS; Inglehearn CF; Craig JE; Mackey DA
    Br J Ophthalmol; 2008 Oct; 92(10):1333-6. PubMed ID: 18653586
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The reduction of temporal optic nerve head microcirculation in autosomal dominant optic atrophy.
    Inoue M; Himori N; Kunikata H; Takeshita T; Aizawa N; Shiga Y; Omodaka K; Nishiguchi KM; Takahashi H; Nakazawa T
    Acta Ophthalmol; 2016 Nov; 94(7):e580-e585. PubMed ID: 26936288
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.
    Kamakari S; Koutsodontis G; Tsilimbaris M; Fitsios A; Chrousos G
    Mol Vis; 2014; 20():691-703. PubMed ID: 24883014
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.
    Hayashi T; Sasano H; Katagiri S; Tsunoda K; Kameya S; Nakazawa M; Iwata T; Tsuneoka H
    Jpn J Ophthalmol; 2017 Sep; 61(5):395-401. PubMed ID: 28668999
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1.
    Shimizu S; Mori N; Kishi M; Sugata H; Tsuda A; Kubota N
    Jpn J Ophthalmol; 2002; 46(3):336-40. PubMed ID: 12063046
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Specific deficits in visual electrophysiology in a mouse model of dominant optic atrophy.
    Barnard AR; Charbel Issa P; Perganta G; Williams PA; Davies VJ; Sekaran S; Votruba M; MacLaren RE
    Exp Eye Res; 2011 Nov; 93(5):771-7. PubMed ID: 21803037
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention.
    Hayashi T; Gekka T; Omoto S; Takeuchi T; Kitahara K
    Ophthalmic Res; 2005; 37(4):214-24. PubMed ID: 16006781
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Dominant optic atrophy: correlation between clinical and molecular genetic studies.
    Puomila A; Huoponen K; Mäntyjärvi M; Hämäläinen P; Paananen R; Sankila EM; Savontaus ML; Somer M; Nikoskelainen E
    Acta Ophthalmol Scand; 2005 Jun; 83(3):337-46. PubMed ID: 15948788
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.
    Cohn AC; Toomes C; Potter C; Towns KV; Hewitt AW; Inglehearn CF; Craig JE; Mackey DA
    Am J Ophthalmol; 2007 Apr; 143(4):656-62. PubMed ID: 17306754
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.
    Shimizu S; Mori N; Kishi M; Sugata H; Tsuda A; Kubota N
    Am J Ophthalmol; 2003 Feb; 135(2):256-7. PubMed ID: 12566046
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Visual field loss in optic disc drusen patients correlates with central retinal artery blood velocity patterns.
    Abegão Pinto L; Vandewalle E; Marques-Neves C; Stalmans I
    Acta Ophthalmol; 2014 Jun; 92(4):e286-91. PubMed ID: 24456173
    [TBL] [Abstract][Full Text] [Related]  

  • 19. OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.
    Barboni P; Carbonelli M; Savini G; Foscarini B; Parisi V; Valentino ML; Carta A; De Negri A; Sadun F; Zeviani M; Sadun AA; Schimpf S; Wissinger B; Carelli V
    Ophthalmology; 2010 Aug; 117(8):1547-53. PubMed ID: 20417568
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.
    Sarzi E; Angebault C; Seveno M; Gueguen N; Chaix B; Bielicki G; Boddaert N; Mausset-Bonnefont AL; Cazevieille C; Rigau V; Renou JP; Wang J; Delettre C; Brabet P; Puel JL; Hamel CP; Reynier P; Lenaers G
    Brain; 2012 Dec; 135(Pt 12):3599-613. PubMed ID: 23250881
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.