Shoubridge EA - Search Results

1

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

Janer A, van Karnebeek CD, Sasarman F, Antonicka H, Al Ghamdi M, Shyr C, Dunbar M, Stockler-Ispiroglu S, Ross CJ, Vallance H, Dionne J, Wasserman WW, Shoubridge EA. Janer A, et al. Among authors: shoubridge ea. Eur J Hum Genet. 2015 Oct;23(10):1301-7. doi: 10.1038/ejhg.2014.293. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604853 Free PMC article.

2

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency.

Yao J, Shoubridge EA. Yao J, et al. Among authors: shoubridge ea. Hum Mol Genet. 1999 Dec;8(13):2541-9. doi: 10.1093/hmg/8.13.2541. Hum Mol Genet. 1999. PMID: 10556303

3

Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy.

Sasarman F, Karpati G, Shoubridge EA. Sasarman F, et al. Among authors: shoubridge ea. Hum Mol Genet. 2002 Jul 1;11(14):1669-81. doi: 10.1093/hmg/11.14.1669. Hum Mol Genet. 2002. PMID: 12075011

4

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.

Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA. Antonicka H, et al. Among authors: shoubridge ea. Am J Hum Genet. 2003 Jan;72(1):101-14. doi: 10.1086/345489. Epub 2002 Dec 9. Am J Hum Genet. 2003. PMID: 12474143 Free PMC article.

5

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA. Antonicka H, et al. Among authors: shoubridge ea. Hum Mol Genet. 2003 Oct 15;12(20):2693-702. doi: 10.1093/hmg/ddg284. Epub 2003 Aug 19. Hum Mol Genet. 2003. PMID: 12928484

6

Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency.

Antonicka H, Ogilvie I, Taivassalo T, Anitori RP, Haller RG, Vissing J, Kennaway NG, Shoubridge EA. Antonicka H, et al. Among authors: shoubridge ea. J Biol Chem. 2003 Oct 31;278(44):43081-8. doi: 10.1074/jbc.M304998200. Epub 2003 Aug 26. J Biol Chem. 2003. PMID: 12941961 Free article.

7

Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.

Oquendo CE, Antonicka H, Shoubridge EA, Reardon W, Brown GK. Oquendo CE, et al. Among authors: shoubridge ea. J Med Genet. 2004 Jul;41(7):540-4. doi: 10.1136/jmg.2003.017426. J Med Genet. 2004. PMID: 15235026 Free PMC article. No abstract available.

8

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.

Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA. Coenen MJ, et al. Among authors: shoubridge ea. N Engl J Med. 2004 Nov 11;351(20):2080-6. doi: 10.1056/NEJMoa041878. N Engl J Med. 2004. PMID: 15537906 Free article.

9

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS. Lerner-Ellis JP, et al. Among authors: shoubridge ea. Nat Genet. 2006 Jan;38(1):93-100. doi: 10.1038/ng1683. Epub 2005 Nov 27. Nat Genet. 2006. PMID: 16311595

10

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.

Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA. Antonicka H, et al. Among authors: shoubridge ea. Hum Mol Genet. 2006 Jun 1;15(11):1835-46. doi: 10.1093/hmg/ddl106. Epub 2006 Apr 21. Hum Mol Genet. 2006. PMID: 16632485

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