Taylor RW - Search Results

1

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.

Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D. Baruffini E, et al. Among authors: taylor rw. Hum Mutat. 2013 Nov;34(11):1501-9. doi: 10.1002/humu.22393. Epub 2013 Sep 17. Hum Mutat. 2013. PMID: 23929671 Free PMC article.

2

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.

Deschauer M, Kiefer R, Blakely EL, He L, Zierz S, Turnbull DM, Taylor RW. Deschauer M, et al. Among authors: taylor rw. Neuromuscul Disord. 2003 Sep;13(7-8):568-72. doi: 10.1016/s0960-8966(03)00071-3. Neuromuscul Disord. 2003. PMID: 12921794

3

Genotypes from patients indicate no paternal mitochondrial DNA contribution.

Taylor RW, McDonnell MT, Blakely EL, Chinnery PF, Taylor GA, Howell N, Zeviani M, Briem E, Carrara F, Turnbull DM. Taylor RW, et al. Among authors: taylor ga. Ann Neurol. 2003 Oct;54(4):521-4. doi: 10.1002/ana.10673. Ann Neurol. 2003. PMID: 14520666

4

Somatic mitochondrial DNA mutations in adult-onset leukaemia.

He L, Luo L, Proctor SJ, Middleton PG, Blakely EL, Taylor RW, Turnbull DM. He L, et al. Among authors: taylor rw. Leukemia. 2003 Dec;17(12):2487-91. doi: 10.1038/sj.leu.2403146. Leukemia. 2003. PMID: 14523470

5

Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.

Taylor RW, Schaefer AM, McDonnell MT, Petty RK, Thomas AM, Blakely EL, Hayes CM, McFarland R, Turnbull DM. Taylor RW, et al. Neurology. 2004 Apr 27;62(8):1420-3. doi: 10.1212/01.wnl.0000120667.77372.46. Neurology. 2004. PMID: 15111688

6

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. McDonnell MT, et al. Among authors: taylor rw. Eur J Hum Genet. 2004 Sep;12(9):778-81. doi: 10.1038/sj.ejhg.5201216. Eur J Hum Genet. 2004. PMID: 15199381

7

Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.

Blakely EL, Poulton J, Pike M, Wojnarowska F, Turnbull DM, McFarland R, Taylor RW. Blakely EL, et al. Among authors: taylor rw. J Neurol Sci. 2004 Oct 15;225(1-2):99-103. doi: 10.1016/j.jns.2004.07.007. J Neurol Sci. 2004. PMID: 15465092

8

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.

Blakely EL, de Silva R, King A, Schwarzer V, Harrower T, Dawidek G, Turnbull DM, Taylor RW. Blakely EL, et al. Among authors: taylor rw. Eur J Hum Genet. 2005 May;13(5):623-7. doi: 10.1038/sj.ejhg.5201363. Eur J Hum Genet. 2005. PMID: 15657614

9

Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.

Schaefer AM, Blakely EL, Griffiths PG, Turnbull DM, Taylor RW. Schaefer AM, et al. Among authors: taylor rw. Muscle Nerve. 2005 Jul;32(1):104-7. doi: 10.1002/mus.20319. Muscle Nerve. 2005. PMID: 15795893

10

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast.

Blakely EL, Mitchell AL, Fisher N, Meunier B, Nijtmans LG, Schaefer AM, Jackson MJ, Turnbull DM, Taylor RW. Blakely EL, et al. Among authors: taylor rw. FEBS J. 2005 Jul;272(14):3583-92. doi: 10.1111/j.1742-4658.2005.04779.x. FEBS J. 2005. PMID: 16008558 Free article.

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