Schon EA - Search Results

1

High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy.

Manfredi G, Servidei S, Bonilla E, Shanske S, Schon EA, DiMauro S, Moraes CT. Manfredi G, et al. Among authors: schon ea. Neurology. 1995 Apr;45(4):762-8. doi: 10.1212/wnl.45.4.762. Neurology. 1995. PMID: 7723967

2

Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.

Tay SK, Nesti C, Mancuso M, Schon EA, Shanske S, Bonilla E, Davidson MM, Dimauro S. Tay SK, et al. Among authors: schon ea. Arch Neurol. 2004 Dec;61(12):1935-7. doi: 10.1001/archneur.61.12.1935. Arch Neurol. 2004. PMID: 15596615

3

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.

Salviati L, Sacconi S, Rasalan MM, Kronn DF, Braun A, Canoll P, Davidson M, Shanske S, Bonilla E, Hays AP, Schon EA, DiMauro S. Salviati L, et al. Among authors: schon ea. Arch Neurol. 2002 May;59(5):862-5. doi: 10.1001/archneur.59.5.862. Arch Neurol. 2002. PMID: 12020273

4

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.

5

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: schon ea. Am J Hum Genet. 1992 May;50(5):934-49. Am J Hum Genet. 1992. PMID: 1315123 Free PMC article.

6

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: schon ea. J Neurol Sci. 1991 Sep;105(1):88-92. doi: 10.1016/0022-510x(91)90123-o. J Neurol Sci. 1991. PMID: 1665507 Free article.

7

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: schon ea. Lancet. 1991 Mar 2;337(8740):508-10. doi: 10.1016/0140-6736(91)91294-5. Lancet. 1991. PMID: 1671889 Free article. Clinical Trial.

8

Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach.

Tritschler HJ, Bonilla E, Lombes A, Andreetta F, Servidei S, Schneyder B, Miranda AF, Schon EA, Kadenbach B, DiMauro S. Tritschler HJ, et al. Among authors: schon ea. Neurology. 1991 Feb;41(2 ( Pt 1)):300-5. doi: 10.1212/wnl.41.2_part_1.300. Neurology. 1991. PMID: 1846953

9

Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome.

Lombes A, Nakase H, Tritschler HJ, Kadenbach B, Bonilla E, DeVivo DC, Schon EA, DiMauro S. Lombes A, et al. Among authors: schon ea. Neurology. 1991 Apr;41(4):491-8. doi: 10.1212/wnl.41.4.491. Neurology. 1991. PMID: 1849240

10

Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region.

Moraes CT, Andreetta F, Bonilla E, Shanske S, DiMauro S, Schon EA. Moraes CT, et al. Among authors: schon ea. Mol Cell Biol. 1991 Mar;11(3):1631-7. doi: 10.1128/mcb.11.3.1631-1637.1991. Mol Cell Biol. 1991. PMID: 1996112 Free PMC article.

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