Schon EA - Search Results

1

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.

Carrozzo R, Hirano M, Fromenty B, Casali C, Santorelli FM, Bonilla E, DiMauro S, Schon EA, Miranda AF. Carrozzo R, et al. Among authors: schon ea. Neurology. 1998 Jan;50(1):99-106. doi: 10.1212/wnl.50.1.99. Neurology. 1998. PMID: 9443465

2

The clinical maze of mitochondrial neurology.

DiMauro S, Schon EA, Carelli V, Hirano M. DiMauro S, et al. Among authors: schon ea. Nat Rev Neurol. 2013 Aug;9(8):429-44. doi: 10.1038/nrneurol.2013.126. Epub 2013 Jul 9. Nat Rev Neurol. 2013. PMID: 23835535 Free PMC article. Review.

3

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

4

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

5

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: schon ea. Neurology. 1988 Sep;38(9):1339-46. doi: 10.1212/wnl.38.9.1339. Neurology. 1988. PMID: 3412580

6

Immunocytochemical study of nebulin in Duchenne muscular dystrophy.

Bonilla E, Miranda AF, Prelle A, Salviati G, Betto R, Zeviani M, Schon EA, DiMauro S, Rowland LP. Bonilla E, et al. Among authors: schon ea. Neurology. 1988 Oct;38(10):1600-3. doi: 10.1212/wnl.38.10.1600. Neurology. 1988. PMID: 3419605

7

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

8

Mitochondrial encephalomyopathies: clinical and molecular analysis.

Schon EA, Hirano M, DiMauro S. Schon EA, et al. J Bioenerg Biomembr. 1994 Jun;26(3):291-9. doi: 10.1007/BF00763100. J Bioenerg Biomembr. 1994. PMID: 8077182 Review.

9

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: schon ea. Hum Mol Genet. 1994 Jan;3(1):13-9. doi: 10.1093/hmg/3.1.13. Hum Mol Genet. 1994. PMID: 8162014

10

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.

Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S. Santorelli FM, et al. Among authors: schon ea. Neurology. 1994 May;44(5):972-4. doi: 10.1212/wnl.44.5.972. Neurology. 1994. PMID: 8190310

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