DiMauro S - Search Results

1

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome.

Mita S, Schmidt B, Schon EA, DiMauro S, Bonilla E. Mita S, et al. Among authors: dimauro s. Proc Natl Acad Sci U S A. 1989 Dec;86(23):9509-13. doi: 10.1073/pnas.86.23.9509. Proc Natl Acad Sci U S A. 1989. PMID: 2556715 Free PMC article.

2

Mitochondrial mutations: genotype to phenotype.

Schon EA, DiMauro S. Schon EA, et al. Among authors: dimauro s. Novartis Found Symp. 2007;287:214-25; discussion 226-33. doi: 10.1002/9780470725207.ch15. Novartis Found Symp. 2007. PMID: 18074641 Review.

3

The many clinical faces of cytochrome c oxidase deficiency.

DiMauro S, Tanji K, Schon EA. DiMauro S, et al. Adv Exp Med Biol. 2012;748:341-57. doi: 10.1007/978-1-4614-3573-0_14. Adv Exp Med Biol. 2012. PMID: 22729865 Review.

4

Deletions of mitochondrial DNA in Kearns-Sayre syndrome.

Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, Rowland LP. Zeviani M, et al. Among authors: dimauro s. Neurology. 1988 Sep;38(9):1339-46. doi: 10.1212/wnl.38.9.1339. Neurology. 1988. PMID: 3412580

5

Myoclonic epilepsy with ragged-red fibers (MERRF): an immunohistochemical study of the brain.

Sparaco M, Schon EA, DiMauro S, Bonilla E. Sparaco M, et al. Among authors: dimauro s. Brain Pathol. 1995 Apr;5(2):125-33. doi: 10.1111/j.1750-3639.1995.tb00586.x. Brain Pathol. 1995. PMID: 7670653

6

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: dimauro s. Neurology. 1995 Apr;45(4):762-8. doi: 10.1212/wnl.45.4.762. Neurology. 1995. PMID: 7723967

7

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243.

Petruzzella V, Moraes CT, Sano MC, Bonilla E, DiMauro S, Schon EA. Petruzzella V, et al. Among authors: dimauro s. Hum Mol Genet. 1994 Mar;3(3):449-54. doi: 10.1093/hmg/3.3.449. Hum Mol Genet. 1994. PMID: 7912129

8

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy.

Sciacco M, Bonilla E, Schon EA, DiMauro S, Moraes CT. Sciacco M, et al. Among authors: dimauro s. Hum Mol Genet. 1994 Jan;3(1):13-9. doi: 10.1093/hmg/3.1.13. Hum Mol Genet. 1994. PMID: 8162014

9

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA.

Moraes CT, Ciacci F, Silvestri G, Shanske S, Sciacco M, Hirano M, Schon EA, Bonilla E, DiMauro S. Moraes CT, et al. Among authors: dimauro s. Neuromuscul Disord. 1993 Jan;3(1):43-50. doi: 10.1016/0960-8966(93)90040-q. Neuromuscul Disord. 1993. PMID: 8392410

10

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. Manfredi G, et al. Among authors: dimauro s. Ann Neurol. 1997 Aug;42(2):180-8. doi: 10.1002/ana.410420208. Ann Neurol. 1997. PMID: 9266727

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