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Journal Abstract Search
400 related items for PubMed ID: 16087914
1. Mitochondrial DNA copy number threshold in mtDNA depletion myopathy. Durham SE, Bonilla E, Samuels DC, DiMauro S, Chinnery PF. Neurology; 2005 Aug 09; 65(3):453-5. PubMed ID: 16087914 [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 09; 60(7):1007-9. PubMed ID: 12873860 [Abstract] [Full Text] [Related]
3. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A. Brain; 2008 Nov 09; 131(Pt 11):2841-50. PubMed ID: 18819985 [Abstract] [Full Text] [Related]
4. Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation. Auré K, Fayet G, Leroy JP, Lacène E, Romero NB, Lombès A. Brain; 2006 May 09; 129(Pt 5):1249-59. PubMed ID: 16537564 [Abstract] [Full Text] [Related]
5. A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion. Leshinsky-Silver E, Michelson M, Cohen S, Ginsberg M, Sadeh M, Barash V, Lerman-Sagie T, Lev D. Eur J Paediatr Neurol; 2008 Jul 09; 12(4):309-13. PubMed ID: 17951082 [Abstract] [Full Text] [Related]
6. 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 09; 24(8):713-20. PubMed ID: 24953930 [Abstract] [Full Text] [Related]
7. 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 09; 42(2):180-8. PubMed ID: 9266727 [Abstract] [Full Text] [Related]
8. Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum. Béhin A, Jardel C, Claeys KG, Fagart J, Louha M, Romero NB, Laforêt P, Eymard B, Lombès A. Neurology; 2012 Feb 28; 78(9):644-8. PubMed ID: 22345218 [Abstract] [Full Text] [Related]
9. POLG1 mutations associated with progressive encephalopathy in childhood. Kollberg G, Moslemi AR, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A. J Neuropathol Exp Neurol; 2006 Aug 28; 65(8):758-68. PubMed ID: 16896309 [Abstract] [Full Text] [Related]
10. Mitochondrial (mt)DNA changes in tissue may not be reflected by depletion of mtDNA in peripheral blood mononuclear cells in HIV-infected patients. Maagaard A, Holberg-Petersen M, Kollberg G, Oldfors A, Sandvik L, Bruun JN. Antivir Ther; 2006 Aug 28; 11(5):601-8. PubMed ID: 16964828 [Abstract] [Full Text] [Related]
11. 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 Aug 28; 44(3):210-4. PubMed ID: 10319590 [Abstract] [Full Text] [Related]
12. 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 28; 128(Pt 8):1861-9. PubMed ID: 15857931 [Abstract] [Full Text] [Related]
13. 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 28; 64(9):1339-43. PubMed ID: 17846276 [Abstract] [Full Text] [Related]
14. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Nat Genet; 2001 Nov 28; 29(3):342-4. PubMed ID: 11687801 [Abstract] [Full Text] [Related]
15. 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 28; 129(Pt 12):3402-12. PubMed ID: 16815877 [Abstract] [Full Text] [Related]
16. 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 28; 16(8):504-6. PubMed ID: 16806928 [Abstract] [Full Text] [Related]
17. Failed upregulation of TFAM protein and mitochondrial DNA in oxidatively deficient fibers of chronic obstructive pulmonary disease locomotor muscle. Konokhova Y, Spendiff S, Jagoe RT, Aare S, Kapchinsky S, MacMillan NJ, Rozakis P, Picard M, Aubertin-Leheudre M, Pion CH, Bourbeau J, Hepple RT, Taivassalo T. Skelet Muscle; 2016 Aug 28; 6():10. PubMed ID: 26893822 [Abstract] [Full Text] [Related]
18. 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 28; 62(2):172-6. PubMed ID: 19181635 [Abstract] [Full Text] [Related]
19. 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 15; 228(1):93-7. PubMed ID: 15607216 [Abstract] [Full Text] [Related]
20. Ketogenic diet slows down mitochondrial myopathy progression in mice. Ahola-Erkkilä S, Carroll CJ, Peltola-Mjösund K, Tulkki V, Mattila I, Seppänen-Laakso T, Oresic M, Tyynismaa H, Suomalainen A. Hum Mol Genet; 2010 May 15; 19(10):1974-84. PubMed ID: 20167576 [Abstract] [Full Text] [Related] Page: [Next] [New Search]