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Mitochondrial DNA mutations in human disease.
DiMauro S, Schon EA. DiMauro S, et al. Am J Med Genet. 2001 Spring;106(1):18-26. doi: 10.1002/ajmg.1392. Am J Med Genet. 2001. PMID: 11579421 Review.
The small, maternally inherited mitochondrial DNA (mtDNA) has turned out to be a Pandora's box of pathogenic mutations: 13 years into the era of "molecular mitochondrial medicine," more than 100 pathogenic point mutations and innumerable rearrangements have been associated …
The small, maternally inherited mitochondrial DNA (mtDNA) has turned out to be a Pandora's box of pathogenic mutations: 13 years into …
Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions.
Moraes CT, Ricci E, Petruzzella V, Shanske S, DiMauro S, Schon EA, Bonilla E. Moraes CT, et al. Among authors: dimauro s. Nat Genet. 1992 Aug;1(5):359-67. doi: 10.1038/ng0892-359. Nat Genet. 1992. PMID: 1284549
The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.
Moraes CT, Ricci E, Bonilla E, DiMauro S, Schon EA. Moraes CT, et al. Among authors: dimauro s. Am J Hum Genet. 1992 May;50(5):934-49. Am J Hum Genet. 1992. PMID: 1315123 Free PMC article.
Mitochondrial encephalomyopathies.
DiMauro S. DiMauro S. Brain Pathol. 1992 Apr;2(2):111-2. doi: 10.1111/j.1750-3639.1992.tb00678.x. Brain Pathol. 1992. PMID: 1341951 Review. No abstract available.
A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).
Silvestri G, Moraes CT, Shanske S, Oh SJ, DiMauro S. Silvestri G, et al. Among authors: dimauro s. Am J Hum Genet. 1992 Dec;51(6):1213-7. Am J Hum Genet. 1992. PMID: 1361099 Free PMC article.
Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA.
Suomalainen A, Ciafaloni E, Koga Y, Peltonen L, DiMauro S, Schon EA. Suomalainen A, et al. Among authors: dimauro s. J Neurol Sci. 1992 Sep;111(2):222-6. doi: 10.1016/0022-510x(92)90074-u. J Neurol Sci. 1992. PMID: 1431990
Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR.
Simonetti S, Chen X, DiMauro S, Schon EA. Simonetti S, et al. Among authors: dimauro s. Biochim Biophys Acta. 1992 Dec 10;1180(2):113-22. doi: 10.1016/0925-4439(92)90059-v. Biochim Biophys Acta. 1992. PMID: 1463763
Mitochondrial encephalomyopathies: biochemical approach.
Dimauro S, Moraes CT, Shanske S, Lombes A, Nakase H, Mita S, Tritschler HJ, Bonilla E, Miranda AF, Schon EA. Dimauro S, et al. Rev Neurol (Paris). 1991;147(6-7):443-9. Rev Neurol (Paris). 1991. PMID: 1660180 Review.
Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: a new approach to the study of mitochondrial myopathies.
Andreetta F, Tritschler HJ, Schon EA, DiMauro S, Bonilla E. Andreetta F, et al. Among authors: dimauro s. J Neurol Sci. 1991 Sep;105(1):88-92. doi: 10.1016/0022-510x(91)90123-o. J Neurol Sci. 1991. PMID: 1665507
Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy.
Arnaudo E, Dalakas M, Shanske S, Moraes CT, DiMauro S, Schon EA. Arnaudo E, et al. Among authors: dimauro s. Lancet. 1991 Mar 2;337(8740):508-10. doi: 10.1016/0140-6736(91)91294-5. Lancet. 1991. PMID: 1671889 Clinical Trial.
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