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 *

158 related articles for article (PubMed ID: 15795893)

  • 1. Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.
    Schaefer AM; Blakely EL; Griffiths PG; Turnbull DM; Taylor RW
    Muscle Nerve; 2005 Jul; 32(1):104-7. PubMed ID: 15795893
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.
    Greaves LC; Yu-Wai-Man P; Blakely EL; Krishnan KJ; Beadle NE; Kerin J; Barron MJ; Griffiths PG; Dickinson AJ; Turnbull DM; Taylor RW
    Invest Ophthalmol Vis Sci; 2010 Jul; 51(7):3340-6. PubMed ID: 20164463
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
    Pfeffer G; Gorman GS; Griffin H; Kurzawa-Akanbi M; Blakely EL; Wilson I; Sitarz K; Moore D; Murphy JL; Alston CL; Pyle A; Coxhead J; Payne B; Gorrie GH; Longman C; Hadjivassiliou M; McConville J; Dick D; Imam I; Hilton D; Norwood F; Baker MR; Jaiser SR; Yu-Wai-Man P; Farrell M; McCarthy A; Lynch T; McFarland R; Schaefer AM; Turnbull DM; Horvath R; Taylor RW; Chinnery PF
    Brain; 2014 May; 137(Pt 5):1323-36. PubMed ID: 24727571
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.
    Kierdaszuk B; Kaliszewska M; Rusecka J; Kosińska J; Bartnik E; Tońska K; Kamińska AM; Kostera-Pruszczyk A
    Genes (Basel); 2020 Dec; 12(1):. PubMed ID: 33396418
    [TBL] [Abstract][Full Text] [Related]  

  • 5. External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation.
    Hansrote S; Croul S; Selak M; Kalman B; Schwartzman RJ
    J Neurol Sci; 2002 May; 197(1-2):63-7. PubMed ID: 11997068
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).
    Berardo A; Coku J; Kurt B; DiMauro S; Hirano M
    Neuromuscul Disord; 2010 Mar; 20(3):204-6. PubMed ID: 20149659
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Chronic progressive external ophthalmoplegia: a correlative study of quantitative molecular data and histochemical and biochemical profile.
    Fassati A; Bordoni A; Amboni P; Fortunato F; Fagiolari G; Bresolin N; Prelle A; Comi G; Scarlato G
    J Neurol Sci; 1994 May; 123(1-2):140-6. PubMed ID: 8064307
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
    Rodríguez-López C; García-Cárdaba LM; Blázquez A; Serrano-Lorenzo P; Gutiérrez-Gutiérrez G; San Millán-Tejado B; Muelas N; Hernández-Laín A; Vílchez JJ; Gutiérrez-Rivas E; Arenas J; Martín MA; Domínguez-González C
    J Med Genet; 2020 Sep; 57(9):643-646. PubMed ID: 32161153
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia.
    Kiyomoto BH; Tengan CH; Moraes CT; Oliveira AS; Gabbai AA
    J Neurol Sci; 1997 Nov; 152(2):160-5. PubMed ID: 9415537
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.
    Jackson CB; Neuwirth C; Hahn D; Nuoffer JM; Frank S; Gallati S; Schaller A
    Br J Ophthalmol; 2014 Oct; 98(10):1453-9. PubMed ID: 25034047
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1.
    O'Donnell L; Blakely EL; Baty K; Alexander M; Bogdanova-Mihaylova P; Craig J; Walsh R; Brett F; Taylor RW; Murphy SM
    J Neuromuscul Dis; 2020; 7(3):355-360. PubMed ID: 32310184
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNA
    Schlapakow E; Peeva V; Zsurka G; Jeub M; Wabbels B; Kornblum C; Kunz WS
    Neuromuscul Disord; 2019 May; 29(5):358-367. PubMed ID: 30962064
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers.
    Elstner M; Olszewski K; Prokisch H; Klopstock T; Murgia M
    Int J Mol Sci; 2021 Oct; 22(20):. PubMed ID: 34681740
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.
    Alston CL; Lowe J; Turnbull DM; Maddison P; Taylor RW
    J Neurol Sci; 2010 Nov; 298(1-2):140-4. PubMed ID: 20810132
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders.
    Cruz S; Taipa R; Nogueira C; Pereira C; Almeida LS; Neiva R; Geraldes T; Guimarães A; Melo-Pires M; Vilarinho L
    Muscle Nerve; 2017 Nov; 56(5):868-872. PubMed ID: 28128857
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Molecular studies in Cuban patients with progressive external ophthalmoplegia].
    Rodríguez-Hernández M; Hirano M; Arrieta T; Lestayo Z; Estrada R; Santiesteban R; Guerra-Badía R; Galarraga J; Gutierres J; Hechevarría E; Andreu A; Montoya J; DiMauro S
    Rev Neurol; 2000 Jun 1-15; 30(11):1001-5. PubMed ID: 10904941
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Orbicularis oculi muscle biopsies for mitochondrial DNA analysis in suspected mitochondrial myopathy.
    Roefs AM; Waters PJ; Moore GR; Dolman PJ
    Br J Ophthalmol; 2012 Oct; 96(10):1296-9. PubMed ID: 22893396
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Focal Segmental Glomerulosclerosis Associated with Chronic Progressive External Ophthalmoplegia and Mitochondrial DNA A3243G Mutation.
    Narumi K; Mishima E; Akiyama Y; Matsuhashi T; Nakamichi T; Kisu K; Nishiyama S; Ikenouchi H; Kikuchi A; Izumi R; Miyazaki M; Abe T; Sato H; Ito S
    Nephron; 2018; 138(3):243-248. PubMed ID: 29190634
    [TBL] [Abstract][Full Text] [Related]  

  • 19. New insights into the metabolic consequences of large-scale mtDNA deletions: a quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle.
    Schröder R; Vielhaber S; Wiedemann FR; Kornblum C; Papassotiropoulos A; Broich P; Zierz S; Elger CE; Reichmann H; Seibel P; Klockgether T; Kunz WS
    J Neuropathol Exp Neurol; 2000 May; 59(5):353-60. PubMed ID: 10888364
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Classical mitochondrial phenotypes without mtDNA mutations: the possible role of nuclear genes.
    Pulkes T; Liolitsa D; Nelson IP; Hanna MG
    Neurology; 2003 Oct; 61(8):1144-7. PubMed ID: 14581685
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.