Schon EA - Search Results

1

A functionally dominant mitochondrial DNA mutation.

Sacconi S, Salviati L, Nishigaki Y, Walker WF, Hernandez-Rosa E, Trevisson E, Delplace S, Desnuelle C, Shanske S, Hirano M, Schon EA, Bonilla E, De Vivo DC, DiMauro S, Davidson MM. Sacconi S, et al. Among authors: schon ea. Hum Mol Genet. 2008 Jun 15;17(12):1814-20. doi: 10.1093/hmg/ddn073. Epub 2008 Mar 12. Hum Mol Genet. 2008. PMID: 18337306 Free PMC article.

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

Mitochondrial disorders in the nervous system.

DiMauro S, Schon EA. DiMauro S, et al. Among authors: schon ea. Annu Rev Neurosci. 2008;31:91-123. doi: 10.1146/annurev.neuro.30.051606.094302. Annu Rev Neurosci. 2008. PMID: 18333761 Review.

4

Therapeutic prospects for mitochondrial disease.

Schon EA, DiMauro S, Hirano M, Gilkerson RW. Schon EA, et al. Trends Mol Med. 2010 Jun;16(6):268-76. doi: 10.1016/j.molmed.2010.04.007. Trends Mol Med. 2010. PMID: 20556877 Free PMC article. Review.

5

Human mitochondrial DNA: roles of inherited and somatic mutations.

Schon EA, DiMauro S, Hirano M. Schon EA, et al. Nat Rev Genet. 2012 Dec;13(12):878-90. doi: 10.1038/nrg3275. Nat Rev Genet. 2012. PMID: 23154810 Free PMC article. Review.

6

Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation.

Giordano C, Pallotti F, Walker WF, Checcarelli N, Musumeci O, Santorelli F, d'Amati G, Schon EA, DiMauro S, Hirano M, Davidson MM. Giordano C, et al. Among authors: schon ea. Biochem Biophys Res Commun. 2002 Apr 26;293(1):521-9. doi: 10.1016/S0006-291X(02)00256-5. Biochem Biophys Res Commun. 2002. PMID: 12054632

7

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.

8

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.

9

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.

10

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

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