BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

341 related articles for article (PubMed ID: 10319590)

  • 1. 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]  

  • 2. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
    Mancuso M; Filosto M; Bonilla E; Hirano M; Shanske S; Vu TH; DiMauro S
    Arch Neurol; 2003 Jul; 60(7):1007-9. PubMed ID: 12873860
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA.
    Graf WD; Sumi SM; Copass MK; Ojemann LM; Longstreth WT; Shanske S; Lombes A; DiMauro S
    Ann Neurol; 1993 Jun; 33(6):640-5. PubMed ID: 8388680
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.
    Mancuso M; Ferraris S; Nishigaki Y; Azan G; Mauro A; Sammarco P; Krishna S; Tay SK; Bonilla E; Romansky SG; Hirano M; DiMauro S
    J Neurol Sci; 2005 Jan; 228(1):93-7. PubMed ID: 15607216
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.
    Meulemans A; De Paepe B; De Bleecker J; Smet J; Lissens W; Van Coster R; De Meirleir L; Seneca S
    Arch Neurol; 2007 Sep; 64(9):1339-43. PubMed ID: 17846276
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.
    Kärppä M; Herva R; Moslemi AR; Oldfors A; Kakko S; Majamaa K
    Brain; 2005 Aug; 128(Pt 8):1861-9. PubMed ID: 15857931
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Repopulation of rho0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunction.
    Raha S; Merante F; Shoubridge E; Myint AT; Tein I; Benson L; Johns T; Robinson BH
    Hum Mutat; 1999; 13(3):245-54. PubMed ID: 10090480
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA].
    Stratilová L; Zeman J; Hansíková H; Houstĕk J; Hermanská J; Dudková Z; Konrádová V; Hůlková H; Elleder M
    Cas Lek Cesk; 1998 Jul; 137(14):430-3. PubMed ID: 9748738
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects.
    De Paepe B; Smet J; Lammens M; Seneca S; Martin JJ; De Bleecker J; De Meirleir L; Lissens W; Van Coster R
    J Clin Pathol; 2009 Feb; 62(2):172-6. PubMed ID: 19181635
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mitochondrial DNA copy number threshold in mtDNA depletion myopathy.
    Durham SE; Bonilla E; Samuels DC; DiMauro S; Chinnery PF
    Neurology; 2005 Aug; 65(3):453-5. PubMed ID: 16087914
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy.
    Jeppesen TD; Schwartz M; Olsen DB; Wibrand F; Krag T; Dunø M; Hauerslev S; Vissing J
    Brain; 2006 Dec; 129(Pt 12):3402-12. PubMed ID: 16815877
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Oculopharyngeal somatic myopathy in a patient with a novel large-scale 3,399 bp deletion and a homoplasmic T5814C transition of the mitochondrial DNA.
    Thajeb P; Ma YS; Tzen CY; Chuang CK; Wu TY; Chen SC; Wei YH
    Clin Neurol Neurosurg; 2006 Jun; 108(4):407-10. PubMed ID: 16644408
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients.
    Santorelli FM; Sciacco M; Tanji K; Shanske S; Vu TH; Golzi V; Griggs RC; Mendell JR; Hays AP; Bertorini TE; Pestronk A; Bonilla E; DiMauro S
    Ann Neurol; 1996 Jun; 39(6):789-95. PubMed ID: 8651651
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Parkinson disease--a mitochondrial myopathy?].
    Reichmann H; Janetzky B; Klinge M; Riederer P
    Nervenarzt; 1993 Apr; 64(4):215-20. PubMed ID: 8506008
    [No Abstract]   [Full Text] [Related]  

  • 20. Partial deficiency of subunits in complex I or IV of patients with mitochondrial myopathies.
    Tanaka M; Nishikimi M; Suzuki H; Ozawa T; Koga Y; Nonaka I
    Biochem Int; 1987 Mar; 14(3):525-30. PubMed ID: 2884999
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.