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 *

168 related articles for article (PubMed ID: 17588757)

  • 21. Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations.
    Roos S; Lindgren U; Ehrstedt C; Moslemi AR; Oldfors A
    Neuromuscul Disord; 2014 Aug; 24(8):713-20. PubMed ID: 24953930
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene.
    Darin N; Kollberg G; Moslemi AR; Tulinius M; Holme E; Grönlund MA; Andersson S; Oldfors A
    Neuromuscul Disord; 2006 Aug; 16(8):504-6. PubMed ID: 16806928
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.
    Thajeb P; Lee HC; Pang CY; Jeng CM; Huang SF; Wei YH
    Zhonghua Yi Xue Za Zhi (Taipei); 2000 Jan; 63(1):71-6. PubMed ID: 10645055
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.
    Karadimas CL; Salviati L; Sacconi S; Chronopoulou P; Shanske S; Bonilla E; De Vivo DC; DiMauro S
    Neuromuscul Disord; 2002 Nov; 12(9):865-8. PubMed ID: 12398839
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease.
    Kleinle S; Schneider V; Moosmann P; Brandner S; Krähenbühl S; Liechti-Gallati S
    Biochem Biophys Res Commun; 1998 Jun; 247(1):112-5. PubMed ID: 9636664
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report.
    Soldath P; Madsen KL; Buch AE; Duno M; Wibrand F; Vissing J
    BMC Musculoskelet Disord; 2017 Oct; 18(1):419. PubMed ID: 29052516
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia.
    Takei Y; Ikeda S; Yanagisawa N; Takahashi W; Sekiguchi M; Hayashi T
    Muscle Nerve; 1995 Nov; 18(11):1321-5. PubMed ID: 7565930
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.
    Taylor RW; Schaefer AM; McFarland R; Maddison P; Turnbull DM
    Neuromuscul Disord; 2002 Oct; 12(7-8):659-664. PubMed ID: 12207935
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.
    Auré K; Fayet G; Leroy JP; Lacène E; Romero NB; Lombès A
    Brain; 2006 May; 129(Pt 5):1249-59. PubMed ID: 16537564
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.
    Cardaioli E; Malfatti E; Da Pozzo P; Gallus GN; Carluccio MA; Rufa A; Volpi N; Dotti MT; Federico A
    J Neurol Sci; 2011 Apr; 303(1-2):142-5. PubMed ID: 21257182
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly).
    Nishigaki Y; Bonilla E; Shanske S; Gaskin DA; DiMauro S; Hirano M
    Neurology; 2002 Apr; 58(8):1282-5. PubMed ID: 11971101
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy.
    Seneca S; Goemans N; Van Coster R; Givron P; Reybrouck T; Sciot R; Meulemans A; Smet J; Van Hove JL
    Am J Med Genet A; 2005 Aug; 137(2):170-5. PubMed ID: 16059939
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Inter- and/or intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy.
    Iwanaga R; Koga Y; Aramaki S; Kato S; Kato H
    Acta Neuropathol; 2001 Feb; 101(2):179-84. PubMed ID: 11271374
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene.
    Müller T; Deschauer M; Neudecker S; Zierz S
    Acta Neuropathol; 2005 Oct; 110(4):426-30. PubMed ID: 16133542
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.
    Hao H; Bonilla E; Manfredi G; DiMauro S; Moraes CT
    Am J Hum Genet; 1995 May; 56(5):1017-25. PubMed ID: 7726154
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy.
    Nishino I; Seki A; Maegaki Y; Takeshita K; Horai S; Nonaka I; Goto Y
    Biochem Biophys Res Commun; 1996 Aug; 225(1):180-5. PubMed ID: 8769114
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Mitochondrial myopathy with progressive decrease in mitochondrial tRNA(Leu)(UUR) mutant genomes.
    Kawakami Y; Sakuta R; Hashimoto K; Fujino O; Fujita T; Hida M; Horai S; Goto Y; Nonaka I
    Ann Neurol; 1994 Mar; 35(3):370-3. PubMed ID: 8122892
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A mitochondrial tRNA anticodon swap associated with a muscle disease.
    Moraes CT; Ciacci F; Bonilla E; Ionasescu V; Schon EA; DiMauro S
    Nat Genet; 1993 Jul; 4(3):284-8. PubMed ID: 7689388
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Adult onset limb-girdle type mitochondrial myopathy with a mitochondrial DNA np8291 A-to-G substitution.
    Hirata K; Nakagawa M; Higuchi I; Hashimoto K; Hanada K; Takahashi K; Niiyama T; Izumi K; Sakoda S; Yamada H; Osame M
    J Hum Genet; 1999; 44(3):210-4. PubMed ID: 10319590
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.