BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 8910895)

  • 1. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance.
    Dumoulin R; Sagnol I; Ferlin T; Bozon D; Stepien G; Mousson B
    Mol Cell Probes; 1996 Oct; 10(5):389-91. PubMed ID: 8910895
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.
    Andreu AL; Hanna MG; Reichmann H; Bruno C; Penn AS; Tanji K; Pallotti F; Iwata S; Bonilla E; Lach B; Morgan-Hughes J; DiMauro S
    N Engl J Med; 1999 Sep; 341(14):1037-44. PubMed ID: 10502593
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mitochondrial disease in patients with exercise intolerance.
    Miró O; Grav JM; Casademont J
    N Engl J Med; 2000 Feb; 342(6):439; author reply 439-40. PubMed ID: 10681227
    [No Abstract]   [Full Text] [Related]  

  • 4. Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene.
    Bruno C; Santorelli FM; Assereto S; Tonoli E; Tessa A; Traverso M; Scapolan S; Bado M; Tedeschi S; Minetti C
    Muscle Nerve; 2003 Oct; 28(4):508-11. PubMed ID: 14506725
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys.
    Gambello MJ; Bai RK; Chen TJ; Dimachkie M; Wong LJ
    Muscle Nerve; 2006 Oct; 34(4):437-43. PubMed ID: 16810691
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring.
    Houshmand M; Lindberg C; Moslemi AR; Oldfors A; Holme E
    Hum Mutat; 1999; 13(3):203-9. PubMed ID: 10090475
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Exercise intolerance due to cytochrome b mutation.
    Massie R; Wong LJ; Milone M
    Muscle Nerve; 2010 Jul; 42(1):136-40. PubMed ID: 20544923
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.
    Haut S; de Villemeur TB; Brivet M; Guiochon-Mantel A; Boutron A; Rustin P; Legrand A; Slama A
    Eur J Hum Genet; 2004 Mar; 12(3):220-4. PubMed ID: 14735157
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.
    Andreu AL; Bruno C; Shanske S; Shtilbans A; Hirano M; Krishna S; Hayward L; Systrom DS; Brown RH; DiMauro S
    Neurology; 1998 Nov; 51(5):1444-7. PubMed ID: 9818877
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
    Kollberg G; Tulinius M; Melberg A; Darin N; Andersen O; Holmgren D; Oldfors A; Holme E
    Brain; 2009 Aug; 132(Pt 8):2170-9. PubMed ID: 19567699
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene.
    Mancuso M; Filosto M; Stevens JC; Patterson M; Shanske S; Krishna S; DiMauro S
    J Neurol Sci; 2003 May; 209(1-2):61-3. PubMed ID: 12686403
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?
    Manfredi G; Vu T; Bonilla E; Schon EA; DiMauro S; Arnaudo E; Zhang L; Rowland LP; Hirano M
    Ann Neurol; 1997 Aug; 42(2):180-8. PubMed ID: 9266727
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A patient with two mitochondrial DNA mutations causing PEO and LHON.
    Melberg A; Moslemi AR; Palm O; Raininko R; Stålberg E; Oldfors A
    Eur J Med Genet; 2009; 52(1):47-8. PubMed ID: 19015050
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene.
    Vladutiu GD; Bennett MJ; Smail D; Wong LJ; Taggart RT; Lindsley HB
    Mol Genet Metab; 2000 Jun; 70(2):134-41. PubMed ID: 10873395
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mitochondrial disease in patients with exercise intolerance.
    Vladutiu GD; Tabone E
    N Engl J Med; 2000 Feb; 342(6):438-9; author reply 439-40. PubMed ID: 10681226
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.