Schon EA - Search Results

1

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE, Rowland LP, Schon EA, DiMauro S. Moraes CT, et al. Among authors: schon ea. J Clin Invest. 1993 Dec;92(6):2906-15. doi: 10.1172/JCI116913. J Clin Invest. 1993. PMID: 8254046 Free PMC article.

2

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.

3

The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: a model for pathogenesis.

Schon EA, Koga Y, Davidson M, Moraes CT, King MP. Schon EA, et al. Biochim Biophys Acta. 1992 Jul 17;1101(2):206-9. Biochim Biophys Acta. 1992. PMID: 1378759 Free article.

4

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.

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

A mitochondrial tRNA anticodon swap associated with a muscle disease.

Moraes CT, Ciacci F, Bonilla E, Ionasescu V, Schon EA, DiMauro S. Moraes CT, et al. Among authors: schon ea. Nat Genet. 1993 Jul;4(3):284-8. doi: 10.1038/ng0793-284. Nat Genet. 1993. PMID: 7689388

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

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: schon ea. Neuromuscul Disord. 1993 Jan;3(1):43-50. doi: 10.1016/0960-8966(93)90040-q. Neuromuscul Disord. 1993. PMID: 8392410

10

Mitochondrial DNA mutations and pathogenesis.

Schon EA, Bonilla E, DiMauro S. Schon EA, et al. J Bioenerg Biomembr. 1997 Apr;29(2):131-49. doi: 10.1023/a:1022685929755. J Bioenerg Biomembr. 1997. PMID: 9239539 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

250 results

Search Page

Filters