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 *

140 related articles for article (PubMed ID: 22472598)

  • 1. Dominant optic atrophy, neuropathy, ataxia, white matter FLAIR hypersignals, middle cerebellar peduncule atrophy and asthenia in OPA1 mutation.
    Magnin E; Allibert R; Berger E; Dollfus H; Rumbach L
    Eur Neurol; 2012; 67(5):287. PubMed ID: 22472598
    [No Abstract]   [Full Text] [Related]  

  • 2. Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy.
    Verny C; Loiseau D; Scherer C; Lejeune P; Chevrollier A; Gueguen N; Guillet V; Dubas F; Reynier P; Amati-Bonneau P; Bonneau D
    Neurology; 2008 Mar; 70(13 Pt 2):1152-3. PubMed ID: 18287570
    [No Abstract]   [Full Text] [Related]  

  • 3. Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
    Bonneau D; Colin E; Oca F; Ferré M; Chevrollier A; Guéguen N; Desquiret-Dumas V; N'Guyen S; Barth M; Zanlonghi X; Rio M; Desguerre I; Barnerias C; Momtchilova M; Rodriguez D; Slama A; Lenaers G; Procaccio V; Amati-Bonneau P; Reynier P
    Brain; 2014 Oct; 137(Pt 10):e301. PubMed ID: 25012220
    [No Abstract]   [Full Text] [Related]  

  • 4. Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy.
    Baker MR; Fisher KM; Whittaker RG; Griffiths PG; Yu-Wai-Man P; Chinnery PF
    Neurology; 2011 Sep; 77(13):1309-12. PubMed ID: 21917770
    [No Abstract]   [Full Text] [Related]  

  • 5. Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.
    Roubertie A; Leboucq N; Picot MC; Nogue E; Brunel H; Le Bars E; Manes G; Angebault Prouteau C; Blanchet C; Mondain M; Chevassus H; Amati-Bonneau P; Sarzi E; Pagès M; Villain M; Meunier I; Lenaers G; Hamel CP
    J Neurol Sci; 2015 Feb; 349(1-2):154-60. PubMed ID: 25641387
    [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. 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]  

  • 8. The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.
    Ke T; Nie SW; Yang QB; Liu JP; Zhou LN; Ren X; Liu JY; Wang Q; Liu MG
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Oct; 23(5):481-5. PubMed ID: 17029191
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Does acute loss of vision in autosomal dominant optic atrophy occur early in childhood?
    Kearns LS; Forrest M; Cohn AC; Churchill AJ; Mackey DA
    Ophthalmic Genet; 2010 Mar; 31(1):44-6. PubMed ID: 20141358
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1.
    Amati-Bonneau P; Pasquier L; Lainey E; Ferré M; Odent S; Malthièry Y; Bonneau D; Reynier P
    Clin Genet; 2005 Jan; 67(1):102-3. PubMed ID: 15617556
    [No Abstract]   [Full Text] [Related]  

  • 17. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.
    Amati-Bonneau P; Guichet A; Olichon A; Chevrollier A; Viala F; Miot S; Ayuso C; Odent S; Arrouet C; Verny C; Calmels MN; Simard G; Belenguer P; Wang J; Puel JL; Hamel C; Malthièry Y; Bonneau D; Lenaers G; Reynier P
    Ann Neurol; 2005 Dec; 58(6):958-63. PubMed ID: 16240368
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.