Turnbull DM - Search Results

1

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L. Visapää I, et al. Among authors: turnbull dm. Am J Hum Genet. 2002 Oct;71(4):863-76. doi: 10.1086/342773. Epub 2002 Sep 5. Am J Hum Genet. 2002. PMID: 12215968 Free PMC article.

2

Leigh disease associated with a novel mitochondrial DNA ND5 mutation.

Taylor RW, Morris AA, Hutchinson M, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. Eur J Hum Genet. 2002 Feb;10(2):141-4. doi: 10.1038/sj.ejhg.5200773. Eur J Hum Genet. 2002. PMID: 11938446

3

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.

Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF. Longley MJ, et al. Among authors: turnbull dm. Am J Hum Genet. 2006 Jun;78(6):1026-34. doi: 10.1086/504303. Epub 2006 May 4. Am J Hum Genet. 2006. PMID: 16685652 Free PMC article.

4

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: turnbull dm. 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

5

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.

Maniura-Weber K, Taylor RW, Johnson MA, Chrzanowska-Lightowlers Z, Morris AA, Charlton CP, Turnbull DM, Bindoff LA. Maniura-Weber K, et al. Among authors: turnbull dm. Eur J Hum Genet. 2004 Jun;12(6):509-12. doi: 10.1038/sj.ejhg.5201185. Eur J Hum Genet. 2004. PMID: 15054399

6

Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration.

Vlachantoni D, Bramall AN, Murphy MP, Taylor RW, Shu X, Tulloch B, Van Veen T, Turnbull DM, McInnes RR, Wright AF. Vlachantoni D, et al. Among authors: turnbull dm. Hum Mol Genet. 2011 Jan 15;20(2):322-35. doi: 10.1093/hmg/ddq467. Epub 2010 Nov 3. Hum Mol Genet. 2011. PMID: 21051333

7

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM. McFarland R, et al. Among authors: turnbull dm. Nat Genet. 2002 Feb;30(2):145-6. doi: 10.1038/ng819. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799391

8

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: turnbull dm. Eur J Hum Genet. 2004 Sep;12(9):778-81. doi: 10.1038/sj.ejhg.5201216. Eur J Hum Genet. 2004. PMID: 15199381

9

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: turnbull dm. Eur J Hum Genet. 2005 May;13(5):623-7. doi: 10.1038/sj.ejhg.5201363. Eur J Hum Genet. 2005. PMID: 15657614

10

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: turnbull dm. 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.

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