Taylor RW - Search Results

1

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells.

Perli E, Giordano C, Pisano A, Montanari A, Campese AF, Reyes A, Ghezzi D, Nasca A, Tuppen HA, Orlandi M, Di Micco P, Poser E, Taylor RW, Colotti G, Francisci S, Morea V, Frontali L, Zeviani M, d'Amati G. Perli E, et al. Among authors: taylor rw. EMBO Mol Med. 2014 Feb;6(2):169-82. doi: 10.1002/emmm.201303198. Epub 2014 Jan 10. EMBO Mol Med. 2014. PMID: 24413190 Free PMC article.

2

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

Taylor RW, Giordano C, Davidson MM, d'Amati G, Bain H, Hayes CM, Leonard H, Barron MJ, Casali C, Santorelli FM, Hirano M, Lightowlers RN, DiMauro S, Turnbull DM. Taylor RW, et al. J Am Coll Cardiol. 2003 May 21;41(10):1786-96. doi: 10.1016/s0735-1097(03)00300-0. J Am Coll Cardiol. 2003. PMID: 12767666 Free article.

3

Induction of mitochondrial biogenesis is a maladaptive mechanism in mitochondrial cardiomyopathies.

Sebastiani M, Giordano C, Nediani C, Travaglini C, Borchi E, Zani M, Feccia M, Mancini M, Petrozza V, Cossarizza A, Gallo P, Taylor RW, d'Amati G. Sebastiani M, et al. Among authors: taylor rw. J Am Coll Cardiol. 2007 Oct 2;50(14):1362-9. doi: 10.1016/j.jacc.2007.06.035. Epub 2007 Sep 17. J Am Coll Cardiol. 2007. PMID: 17903636 Free article.

4

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.

Tuppen HA, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM, Taylor RW. Tuppen HA, et al. Among authors: taylor rw. J Med Genet. 2008 Jan;45(1):55-61. doi: 10.1136/jmg.2007.051185. J Med Genet. 2008. PMID: 18178636

5

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.

Rorbach J, Yusoff AA, Tuppen H, Abg-Kamaludin DP, Chrzanowska-Lightowlers ZM, Taylor RW, Turnbull DM, McFarland R, Lightowlers RN. Rorbach J, et al. Among authors: taylor rw. Nucleic Acids Res. 2008 May;36(9):3065-74. doi: 10.1093/nar/gkn147. Epub 2008 Apr 8. Nucleic Acids Res. 2008. PMID: 18400783 Free PMC article.

6

Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.

Giordano C, Powell H, Leopizzi M, De Curtis M, Travaglini C, Sebastiani M, Gallo P, Taylor RW, d'Amati G. Giordano C, et al. Among authors: taylor rw. Neurology. 2009 Mar 24;72(12):1103-5. doi: 10.1212/01.wnl.0000345002.47396.e1. Neurology. 2009. PMID: 19307547 Free PMC article. No abstract available.

7

Mitochondrial DNA mutations and human disease.

Tuppen HA, Blakely EL, Turnbull DM, Taylor RW. Tuppen HA, et al. Among authors: taylor rw. Biochim Biophys Acta. 2010 Feb;1797(2):113-28. doi: 10.1016/j.bbabio.2009.09.005. Epub 2009 Sep 15. Biochim Biophys Acta. 2010. PMID: 19761752 Free article. Review.

8

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.

Craven L, Tuppen HA, Greggains GD, Harbottle SJ, Murphy JL, Cree LM, Murdoch AP, Chinnery PF, Taylor RW, Lightowlers RN, Herbert M, Turnbull DM. Craven L, et al. Among authors: taylor rw. Nature. 2010 May 6;465(7294):82-5. doi: 10.1038/nature08958. Epub 2010 Apr 14. Nature. 2010. PMID: 20393463 Free PMC article.

9

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.

Tuppen HA, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He L, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW. Tuppen HA, et al. Among authors: taylor rw. Mol Genet Metab. 2010 Aug;100(4):345-8. doi: 10.1016/j.ymgme.2010.04.010. Epub 2010 Apr 24. Mol Genet Metab. 2010. PMID: 20472482

10

Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations.

Giordano C, Pichiorri F, Blakely EL, Perli E, Orlandi M, Gallo P, Taylor RW, Inghilleri M, d'Amati G. Giordano C, et al. Among authors: taylor rw. Arch Neurol. 2010 Sep;67(9):1144-6. doi: 10.1001/archneurol.2010.200. Arch Neurol. 2010. PMID: 20837862

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

990 results

Search Page

Filters