Alston CL - Search Results

1

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

Kennedy H, Haack TB, Hartill V, Mataković L, Baumgartner ER, Potter H, Mackay R, Alston CL, O'Sullivan S, McFarland R, Connolly G, Gannon C, King R, Mead S, Crozier I, Chan W, Florkowski CM, Sage M, Höfken T, Alhaddad B, Kremer LS, Kopajtich R, Feichtinger RG, Sperl W, Rodenburg RJ, Minet JC, Dobbie A, Strom TM, Meitinger T, George PM, Johnson CA, Taylor RW, Prokisch H, Doudney K, Mayr JA. Kennedy H, et al. Among authors: alston cl. Am J Hum Genet. 2016 Sep 1;99(3):674-682. doi: 10.1016/j.ajhg.2016.06.027. Epub 2016 Aug 11. Am J Hum Genet. 2016. PMID: 27523597 Free PMC article.

2

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

Whittaker RG, Blackwood JK, Alston CL, Blakely EL, Elson JL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. Whittaker RG, et al. Among authors: alston cl. Neurology. 2009 Feb 10;72(6):568-9. doi: 10.1212/01.wnl.0000342121.91336.4d. Neurology. 2009. PMID: 19204268 Free PMC article. No abstract available.

3

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. 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

4

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: alston cl. 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

5

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. 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

6

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. 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

7

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Tuppen HA, Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, Jones S, Devlin AM, Mansour S, Chrzanowska-Lightowlers ZM, Thorburn DR, McFarland R, Taylor RW. Tuppen HA, et al. Among authors: alston cl. Brain. 2010 Oct;133(10):2952-63. doi: 10.1093/brain/awq232. Epub 2010 Sep 6. Brain. 2010. PMID: 20819849 Free PMC article.

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. 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: alston cl. Hum Mutat. 2011 Nov;32(11):1319-25. doi: 10.1002/humu.21575. Epub 2011 Sep 19. Hum Mutat. 2011. PMID: 21882289

10

Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: a prospective study.

Bates MG, Nesbitt V, Kirk R, He L, Blakely EL, Alston CL, Brodlie M, Hasan A, Taylor RW, McFarland R. Bates MG, et al. Among authors: alston cl. Int J Cardiol. 2012 Mar 8;155(2):305-6. doi: 10.1016/j.ijcard.2011.11.063. Epub 2011 Dec 20. Int J Cardiol. 2012. PMID: 22188990 No abstract available.

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