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Mitochondrial DNA deletion diagnosed by analysis of an endomyocardial biopsy specimen from a patient with Kearns-Sayre syndrome and complete heart block.
Remes AM, Hassinen IE, Majamaa K, Peuhkurinen KJ. Remes AM, et al. Br Heart J. 1992 Oct;68(4):408-11. doi: 10.1136/hrt.68.10.408. Br Heart J. 1992. PMID: 1449926 Free PMC article.
Kearns-Sayre syndrome case presenting a mitochondrial DNA deletion with unusual direct repeats and a rudimentary RNAase mitochondrial ribonucleotide processing target sequence.
Remes AM, Peuhkurinen KJ, Herva R, Majamaa K, Hassinen IE. Remes AM, et al. Genomics. 1993 Apr;16(1):256-8. doi: 10.1006/geno.1993.1170. Genomics. 1993. PMID: 7683627
Metabolic interventions against complex I deficiency in MELAS syndrome.
Majamaa K, Rusanen H, Remes A, Hassinen IE. Majamaa K, et al. Mol Cell Biochem. 1997 Sep;174(1-2):291-6. Mol Cell Biochem. 1997. PMID: 9309702
A tempting explanation is that the free NADH concentration in mitochondria is normally at the level of K(m), so that the decreased activity of the respiratory chain can be compensated for by increased mitochondrial [NADH]. ...
A tempting explanation is that the free NADH concentration in mitochondria is normally at the level of K(m), so that the decreased ac …
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.
Majamaa K, Moilanen JS, Uimonen S, Remes AM, Salmela PI, Kärppä M, Majamaa-Voltti KA, Rusanen H, Sorri M, Peuhkurinen KJ, Hassinen IE. Majamaa K, et al. Am J Hum Genet. 1998 Aug;63(2):447-54. doi: 10.1086/301959. Am J Hum Genet. 1998. PMID: 9683591 Free PMC article.
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