Schon EA - Search Results

1

Clinical manifestations of mitochondrial DNA depletion.

Vu TH, Sciacco M, Tanji K, Nichter C, Bonilla E, Chatkupt S, Maertens P, Shanske S, Mendell J, Koenigsberger MR, Sharer L, Schon EA, DiMauro S, DeVivo DC. Vu TH, et al. Among authors: schon ea. Neurology. 1998 Jun;50(6):1783-90. doi: 10.1212/wnl.50.6.1783. Neurology. 1998. PMID: 9633728

2

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.

3

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 Free PMC article.

4

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: schon ea. Nat Genet. 1992 Aug;1(5):359-67. doi: 10.1038/ng0892-359. Nat Genet. 1992. PMID: 1284549

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

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. Among authors: schon ea. Rev Neurol (Paris). 1991;147(6-7):443-9. Rev Neurol (Paris). 1991. PMID: 1660180 Review.

7

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.

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

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S. Moraes CT, et al. Among authors: schon ea. Am J Hum Genet. 1991 Mar;48(3):492-501. Am J Hum Genet. 1991. PMID: 1998336 Free PMC article.

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