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214 results
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Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR.
Moraes CT, Schon EA. Moraes CT, et al. Among authors: schon ea. Methods Enzymol. 1996;264:522-40. doi: 10.1016/s0076-6879(96)64046-4. Methods Enzymol. 1996. PMID: 8965724 No abstract available.
Risk of developing a mitochondrial DNA deletion disorder.
Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM. Chinnery PF, et al. Among authors: schon ea. Lancet. 2004 Aug 14-20;364(9434):592-6. doi: 10.1016/S0140-6736(04)16851-7. Lancet. 2004. PMID: 15313359
Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.
Gutiérrez Ríos P, Kalra AA, Wilson JD, Tanji K, Akman HO, Area Gómez E, Schon EA, DiMauro S. Gutiérrez Ríos P, et al. Among authors: schon ea. Arch Neurol. 2012 May;69(5):657-61. doi: 10.1001/archneurol.2011.2333. Arch Neurol. 2012. PMID: 22782513
Mitochondrial genetics and disease.
Area-Gomez E, Schon EA. Area-Gomez E, et al. Among authors: schon ea. J Child Neurol. 2014 Sep;29(9):1208-15. doi: 10.1177/0883073814539561. Epub 2014 Jul 14. J Child Neurol. 2014. PMID: 25028417 Review.
Mitochondrial mutations: genotype to phenotype.
Schon EA, DiMauro S. Schon EA, et al. Novartis Found Symp. 2007;287:214-25; discussion 226-33. doi: 10.1002/9780470725207.ch15. Novartis Found Symp. 2007. PMID: 18074641 Review.
Mitochondrial DNA mutations in cancer.
Zanssen S, Schon EA. Zanssen S, et al. Among authors: schon ea. PLoS Med. 2005 Nov;2(11):e401. doi: 10.1371/journal.pmed.0020401. Epub 2005 Nov 29. PLoS Med. 2005. PMID: 16288567 Free PMC article.
Medicinal and genetic approaches to the treatment of mitochondrial disease.
Schon EA, DiMauro S. Schon EA, et al. Curr Med Chem. 2003 Dec;10(23):2523-33. doi: 10.2174/0929867033456503. Curr Med Chem. 2003. PMID: 14529468 Review.
New insights into the bioenergetics of mitochondrial disorders using intracellular ATP reporters.
Gajewski CD, Yang L, Schon EA, Manfredi G. Gajewski CD, et al. Among authors: schon ea. Mol Biol Cell. 2003 Sep;14(9):3628-35. doi: 10.1091/mbc.e02-12-0796. Epub 2003 Jun 27. Mol Biol Cell. 2003. PMID: 12972552 Free PMC article.
Mitochondrial respiratory-chain diseases.
DiMauro S, Schon EA. DiMauro S, et al. Among authors: schon ea. N Engl J Med. 2003 Jun 26;348(26):2656-68. doi: 10.1056/NEJMra022567. N Engl J Med. 2003. PMID: 12826641 Review. No abstract available.
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.
Shanske S, Tang Y, Hirano M, Nishigaki Y, Tanji K, Bonilla E, Sue C, Krishna S, Carlo JR, Willner J, Schon EA, DiMauro S. Shanske S, et al. Among authors: schon ea. Am J Hum Genet. 2002 Sep;71(3):679-83. doi: 10.1086/342482. Epub 2002 Jul 31. Am J Hum Genet. 2002. PMID: 12152148 Free PMC article.
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