Shoubridge EA - Search Results

1

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

2

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

Boulet L, Karpati G, Shoubridge EA. Boulet L, et al. Among authors: shoubridge ea. Am J Hum Genet. 1992 Dec;51(6):1187-200. Am J Hum Genet. 1992. PMID: 1334369 Free PMC article.

3

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.

Fu K, Hartlen R, Johns T, Genge A, Karpati G, Shoubridge EA. Fu K, et al. Among authors: shoubridge ea. Hum Mol Genet. 1996 Nov;5(11):1835-40. doi: 10.1093/hmg/5.11.1835. Hum Mol Genet. 1996. PMID: 8923013

4

Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy.

Shoubridge EA, Johns T, Karpati G. Shoubridge EA, et al. Hum Mol Genet. 1997 Dec;6(13):2239-42. doi: 10.1093/hmg/6.13.2239. Hum Mol Genet. 1997. PMID: 9361028

5

Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis.

Horvath R, Fu K, Johns T, Genge A, Karpati G, Shoubridge EA. Horvath R, et al. Among authors: shoubridge ea. J Neuropathol Exp Neurol. 1998 May;57(5):396-403. doi: 10.1097/00005072-199805000-00003. J Neuropathol Exp Neurol. 1998. PMID: 9596410

6

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.

Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA. Zhu Z, et al. Among authors: shoubridge ea. Nat Genet. 1998 Dec;20(4):337-43. doi: 10.1038/3804. Nat Genet. 1998. PMID: 9843204

7

Gene shifting: a novel therapy for mitochondrial myopathy.

Taivassalo T, Fu K, Johns T, Arnold D, Karpati G, Shoubridge EA. Taivassalo T, et al. Among authors: shoubridge ea. Hum Mol Genet. 1999 Jun;8(6):1047-52. doi: 10.1093/hmg/8.6.1047. Hum Mol Genet. 1999. PMID: 10332036

8

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

9

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.

Poyau A, Buchet K, Bouzidi MF, Zabot MT, Echenne B, Yao J, Shoubridge EA, Godinot C. Poyau A, et al. Among authors: shoubridge ea. Hum Genet. 2000 Feb;106(2):194-205. doi: 10.1007/s004390051028. Hum Genet. 2000. PMID: 10746561

10

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.

Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge EA. Jaksch M, et al. Among authors: shoubridge ea. Hum Mol Genet. 2000 Mar 22;9(5):795-801. doi: 10.1093/hmg/9.5.795. Hum Mol Genet. 2000. PMID: 10749987

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