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 *

142 related articles for article (PubMed ID: 30962064)

  • 21. A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia.
    Cardaioli E; Da Pozzo P; Radi E; Dotti MT; Federico A
    Biochem Biophys Res Commun; 2005 Feb; 327(3):675-8. PubMed ID: 15649400
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.
    Ronchi D; Sciacco M; Bordoni A; Raimondi M; Ripolone M; Fassone E; Di Fonzo A; Rizzuti M; Ciscato P; Cosi A; Servida M; Moggio M; Corti S; Bresolin N; Comi GP
    Eur J Hum Genet; 2012 Mar; 20(3):357-60. PubMed ID: 22189266
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia.
    Siciliano G; Rossi B; Manca L; Angelini C; Tessa A; Vergani L; Martinuzzi A; Muratorio A
    Muscle Nerve; 1996 Mar; 19(3):342-9. PubMed ID: 8606699
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia.
    Carta A; D'Adda T; Carrara F; Zeviani M
    Arch Ophthalmol; 2000 Oct; 118(10):1441-5. PubMed ID: 11030833
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size.
    Gellerich FN; Deschauer M; Chen Y; Müller T; Neudecker S; Zierz S
    Biochim Biophys Acta; 2002 Oct; 1556(1):41-52. PubMed ID: 12351217
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.
    Pinós T; Marotta M; Gallardo E; Illa I; Díaz-Manera J; Gonzalez-Vioque E; García-Arumí E; Andreu AL; Martí R
    Mitochondrion; 2011 Jan; 11(1):228-33. PubMed ID: 20813205
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243.
    Petruzzella V; Moraes CT; Sano MC; Bonilla E; DiMauro S; Schon EA
    Hum Mol Genet; 1994 Mar; 3(3):449-54. PubMed ID: 7912129
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.
    Fu K; Hartlen R; Johns T; Genge A; Karpati G; Shoubridge EA
    Hum Mol Genet; 1996 Nov; 5(11):1835-40. PubMed ID: 8923013
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. "All-or-none" cytochrome c oxidase positivity in mitochondria in chronic progressive external ophthalmoplegia: an ultrastructural--cytochemical study.
    Matsuoka T; Goto Y; Nonaka I
    Muscle Nerve; 1993 Feb; 16(2):206-9. PubMed ID: 8381519
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Diagnostic value of mitochondrial DNA analysis in chronic progressive external ophthalmoplegia (CPEO)].
    Kornblum C; Kunz WS; Klockgether T; Roggenkämper P; Schröder R
    Klin Monbl Augenheilkd; 2004 Dec; 221(12):1057-61. PubMed ID: 15599814
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease.
    Coulbault L; Herlicoviez D; Chapon F; Read MH; Penniello MJ; Reynier P; Fayet G; Lombès A; Jauzac P; Allouche S
    Biochem Biophys Res Commun; 2005 Apr; 329(3):1152-4. PubMed ID: 15752774
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Muscle fibres: applications for the study of the metabolic consequences of enzyme deficiencies in skeletal muscle.
    Vielhaber S; Kudin A; Schröder R; Elger CE; Kunz WS
    Biochem Soc Trans; 2000 Feb; 28(2):159-64. PubMed ID: 10816119
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Progressive external ophthalmoplegia - A case report.
    Kaur A; Mathur K; Harsh A; Thakar K
    Indian J Pathol Microbiol; 2023; 66(4):883-885. PubMed ID: 38084557
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathy.
    Carta A; Carelli V; D'Adda T; Ross-Cisneros FN; Sadun AA
    Br J Ophthalmol; 2005 Jul; 89(7):825-7. PubMed ID: 15965159
    [TBL] [Abstract][Full Text] [Related]  

  • 37. MR of extraocular muscles in chronic progressive external ophthalmoplegia.
    Carlow TJ; Depper MH; Orrison WW
    AJNR Am J Neuroradiol; 1998 Jan; 19(1):95-9. PubMed ID: 9432164
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
    Fratter C; Gorman GS; Stewart JD; Buddles M; Smith C; Evans J; Seller A; Poulton J; Roberts M; Hanna MG; Rahman S; Omer SE; Klopstock T; Schoser B; Kornblum C; Czermin B; Lecky B; Blakely EL; Craig K; Chinnery PF; Turnbull DM; Horvath R; Taylor RW
    Neurology; 2010 May; 74(20):1619-26. PubMed ID: 20479361
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Extraocular muscle biopsy in chronic progressive external ophthalmoplegia.
    Ringel SP; Wilson WB; Barden MT
    Ann Neurol; 1979 Oct; 6(4):326-39. PubMed ID: 554523
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.