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 *

441 related articles for article (PubMed ID: 14961560)

  • 1. 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]  

  • 2. 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]  

  • 3. Mutation spectrum and splicing variants in the OPA1 gene.
    Delettre C; Griffoin JM; Kaplan J; Dollfus H; Lorenz B; Faivre L; Lenaers G; Belenguer P; Hamel CP
    Hum Genet; 2001 Dec; 109(6):584-91. PubMed ID: 11810270
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
    Alexander C; Votruba M; Pesch UE; Thiselton DL; Mayer S; Moore A; Rodriguez M; Kellner U; Leo-Kottler B; Auburger G; Bhattacharya SS; Wissinger B
    Nat Genet; 2000 Oct; 26(2):211-5. PubMed ID: 11017080
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.
    Delettre C; Lenaers G; Pelloquin L; Belenguer P; Hamel CP
    Mol Genet Metab; 2002 Feb; 75(2):97-107. PubMed ID: 11855928
    [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. Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
    Schimpf S; Fuhrmann N; Schaich S; Wissinger B
    Hum Mutat; 2008 Jan; 29(1):106-12. PubMed ID: 17722006
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.
    Olichon A; Landes T; Arnauné-Pelloquin L; Emorine LJ; Mils V; Guichet A; Delettre C; Hamel C; Amati-Bonneau P; Bonneau D; Reynier P; Lenaers G; Belenguer P
    J Cell Physiol; 2007 May; 211(2):423-30. PubMed ID: 17167772
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.
    Lodi R; Tonon C; Valentino ML; Iotti S; Clementi V; Malucelli E; Barboni P; Longanesi L; Schimpf S; Wissinger B; Baruzzi A; Barbiroli B; Carelli V
    Ann Neurol; 2004 Nov; 56(5):719-23. PubMed ID: 15505825
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.
    Thiselton DL; Alexander C; Morris A; Brooks S; Rosenberg T; Eiberg H; Kjer B; Kjer P; Bhattacharya SS; Votruba M
    Hum Genet; 2001 Nov; 109(5):498-502. PubMed ID: 11735024
    [TBL] [Abstract][Full Text] [Related]  

  • 17. OPA1-associated disorders: phenotypes and pathophysiology.
    Amati-Bonneau P; Milea D; Bonneau D; Chevrollier A; Ferré M; Guillet V; Gueguen N; Loiseau D; de Crescenzo MA; Verny C; Procaccio V; Lenaers G; Reynier P
    Int J Biochem Cell Biol; 2009 Oct; 41(10):1855-65. PubMed ID: 19389487
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Mitochondrial disorder with OPA1 mutation lacking optic atrophy.
    Milone M; Younge BR; Wang J; Zhang S; Wong LJ
    Mitochondrion; 2009 Jul; 9(4):279-81. PubMed ID: 19303950
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.