Taylor RW - Search Results

1

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Among authors: taylor rw. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.

2

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease.

Bender A, Krishnan KJ, Morris CM, Taylor GA, Reeve AK, Perry RH, Jaros E, Hersheson JS, Betts J, Klopstock T, Taylor RW, Turnbull DM. Bender A, et al. Among authors: taylor rw, taylor ga. Nat Genet. 2006 May;38(5):515-7. doi: 10.1038/ng1769. Epub 2006 Apr 9. Nat Genet. 2006. PMID: 16604074

3

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF. Horvath R, et al. Among authors: taylor rw. Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18. Brain. 2006. PMID: 16621917

4

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy.

Alston CL, Morak M, Reid C, Hargreaves IP, Pope SA, Land JM, Heales SJ, Horvath R, Mundy H, Taylor RW. Alston CL, et al. Among authors: taylor rw. Neuromuscul Disord. 2010 Feb;20(2):131-5. doi: 10.1016/j.nmd.2009.10.010. Epub 2009 Dec 16. Neuromuscul Disord. 2010. PMID: 20018511

5

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells.

Blackwood JK, Whittaker RG, Blakely EL, Alston CL, Turnbull DM, Taylor RW. Blackwood JK, et al. Among authors: taylor rw. Biochem Biophys Res Commun. 2010 Mar 19;393(4):740-5. doi: 10.1016/j.bbrc.2010.02.072. Epub 2010 Feb 18. Biochem Biophys Res Commun. 2010. PMID: 20171163

6

The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype.

Alston CL, Bender A, Hargreaves IP, Mundy H, Deshpande C, Klopstock T, McFarland R, Horvath R, Taylor RW. Alston CL, et al. Among authors: taylor rw. Neuromuscul Disord. 2010 Jun;20(6):403-6. doi: 10.1016/j.nmd.2010.04.003. Epub 2010 May 14. Neuromuscul Disord. 2010. PMID: 20471262

7

A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.

Alston CL, Lowe J, Turnbull DM, Maddison P, Taylor RW. Alston CL, et al. Among authors: taylor rw. J Neurol Sci. 2010 Nov 15;298(1-2):140-4. doi: 10.1016/j.jns.2010.08.014. J Neurol Sci. 2010. PMID: 20810132

8

Maternally inherited mitochondrial DNA disease in consanguineous families.

Alston CL, He L, Morris AA, Hughes I, de Goede C, Turnbull DM, McFarland R, Taylor RW. Alston CL, et al. Among authors: taylor rw. Eur J Hum Genet. 2011 Dec;19(12):1226-9. doi: 10.1038/ejhg.2011.124. Epub 2011 Jun 29. Eur J Hum Genet. 2011. PMID: 21712854 Free PMC article.

9

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

Yarham JW, Al-Dosary M, Blakely EL, Alston CL, Taylor RW, Elson JL, McFarland R. Yarham JW, et al. Among authors: taylor rw. Hum Mutat. 2011 Nov;32(11):1319-25. doi: 10.1002/humu.21575. Epub 2011 Sep 19. Hum Mutat. 2011. PMID: 21882289

10

The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.

Nesbitt V, Morrison PJ, Crushell E, Donnelly DE, Alston CL, He L, McFarland R, Taylor RW. Nesbitt V, et al. Among authors: taylor rw. Dev Med Child Neurol. 2012 Jun;54(6):500-6. doi: 10.1111/j.1469-8749.2012.04224.x. Epub 2012 Feb 27. Dev Med Child Neurol. 2012. PMID: 22364517 Free article. Review.

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