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 *

146 related articles for article (PubMed ID: 24930659)

  • 1. Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism.
    Ohnuki Y; Takahashi K; Iijima E; Takahashi W; Suzuki S; Ozaki Y; Kitao R; Mihara M; Ishihara T; Nakamura M; Sawano Y; Goto Y; Izumi S; Kulski JK; Shiina T; Takizawa S
    Intern Med; 2014; 53(12):1365-9. PubMed ID: 24930659
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.
    Cardaioli E; Da Pozzo P; Gallus GN; Malandrini A; Gambelli S; Gaudiano C; Malfatti E; Viscomi C; Zicari E; Berti G; Serni G; Dotti MT; Federico A
    Neuromuscul Disord; 2007 Oct; 17(9-10):681-3. PubMed ID: 17614276
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism.
    Melberg A; Arnell H; Dahl N; Stålberg E; Raininko R; Oldfors A; Bakall B; Lundberg PO; Holme E
    Muscle Nerve; 1996 Dec; 19(12):1561-9. PubMed ID: 8941270
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia.
    Moslemi AR; Melberg A; Holme E; Oldfors A
    Ann Neurol; 1996 Nov; 40(5):707-13. PubMed ID: 8957011
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.
    Van Hove JL; Cunningham V; Rice C; Ringel SP; Zhang Q; Chou PC; Truong CK; Wong LJ
    Am J Med Genet A; 2009 May; 149A(5):861-7. PubMed ID: 19353676
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Progressive external ophthalmoplegia.
    Hirano M; Pitceathly RDS
    Handb Clin Neurol; 2023; 194():9-21. PubMed ID: 36813323
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion.
    Gaetani L; Mignarri A; Di Gregorio M; Sarchielli P; Malandrini A; Cardaioli E; Calabresi P; Dotti MT; Di Filippo M
    J Neurol; 2016 Jul; 263(7):1449-51. PubMed ID: 27113600
    [No Abstract]   [Full Text] [Related]  

  • 8. Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.
    Guo L; Govindaraj P; Kievit M; de Coo IFM; Gerards M; Hellebrekers DMEI; Stassen APM; Gayathri N; Taly AB; Sankaran BP; Smeets HJM
    Neuromuscul Disord; 2021 Sep; 31(9):859-864. PubMed ID: 34419324
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.
    Sadikovic B; Wang J; El-Hattab AW; Landsverk M; Douglas G; Brundage EK; Craigen WJ; Schmitt ES; Wong LJ
    PLoS One; 2010 Dec; 5(12):e15687. PubMed ID: 21187929
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Fine mapping of randomly distributed multiple deletions of mitochondrial DNA in a case of chronic progressive external ophthalmoplegia.
    Ville-Ferlin T; Dumoulin R; Stepien G; Matha V; Bady B; Flocard F; Carrier H; Mathieu M; Mousson B
    Mol Cell Probes; 1995 Jun; 9(3):207-14. PubMed ID: 7477015
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Multiple mitochondrial DNA deletions in chronic progressive external ophthalmoplegia (CPEO)].
    Kawashima S; Nishizawa M
    Nihon Rinsho; 1993 Sep; 51(9):2391-5. PubMed ID: 8411718
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mitochondrial DNA deletion producing progressive external ophthalmoplegia associated with multiple sclerosis.
    Slee M; Finkemeyer J; Krupa M; Raghupathi R; Gardner J; Blumbergs P; Agzarian M; Thyagarajan D
    J Clin Neurosci; 2011 Oct; 18(10):1318-24. PubMed ID: 21795050
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.
    Hou Y; Zhao X; Xie Z; Yu M; Lv H; Zhang W; Yuan Y; Wang Z
    Mol Genet Genomic Med; 2022 May; 10(5):e1921. PubMed ID: 35289132
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
    Tyynismaa H; Sun R; Ahola-Erkkilä S; Almusa H; Pöyhönen R; Korpela M; Honkaniemi J; Isohanni P; Paetau A; Wang L; Suomalainen A
    Hum Mol Genet; 2012 Jan; 21(1):66-75. PubMed ID: 21937588
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.
    Kollberg G; Jansson M; Pérez-Bercoff A; Melberg A; Lindberg C; Holme E; Moslemi AR; Oldfors A
    Eur J Hum Genet; 2005 Apr; 13(4):463-9. PubMed ID: 15702133
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
    Ferraris S; Clark S; Garelli E; Davidzon G; Moore SA; Kardon RH; Bienstock RJ; Longley MJ; Mancuso M; Gutiérrez Ríos P; Hirano M; Copeland WC; DiMauro S
    Arch Neurol; 2008 Jan; 65(1):125-31. PubMed ID: 18195150
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.
    Van Goethem G; Martin JJ; Van Broeckhoven C
    Neuromolecular Med; 2003; 3(3):129-46. PubMed ID: 12835509
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population.
    Remes AM; Majamaa-Voltti K; Kärppä M; Moilanen JS; Uimonen S; Helander H; Rusanen H; Salmela PI; Sorri M; Hassinen IE; Majamaa K
    Neurology; 2005 Mar; 64(6):976-81. PubMed ID: 15781811
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.