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Results: 1 to 20 of 48

1.

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW.

JAMA Neurol. 2015 Jan 1;72(1):106-11. doi: 10.1001/jamaneurol.2014.1753.

PMID:
25420100
[PubMed - in process]
2.

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.

Hall AM, Vilasi A, Garcia-Perez I, Lapsley M, Alston CL, Pitceathly RD, McFarland R, Schaefer AM, Turnbull DM, Beaumont NJ, Hsuan JJ, Cutillas PR, Lindon JC, Holmes E, Unwin RJ, Taylor RW, Gorman GS, Rahman S, Hanna MG.

Kidney Int. 2014 Sep 10. doi: 10.1038/ki.2014.297. [Epub ahead of print]

PMID:
25207879
[PubMed - as supplied by publisher]
3.

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF.

JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.

PMID:
25058219
[PubMed - indexed for MEDLINE]
4.

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.

Blakely EL, Alston CL, Lecky B, Chakrabarti B, Falkous G, Turnbull DM, Taylor RW, Gorman GS.

Neuromuscul Disord. 2014 Jun;24(6):533-6. doi: 10.1016/j.nmd.2014.03.011. Epub 2014 Apr 1.

PMID:
24792523
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

RRM2B-Related Mitochondrial Disease.

Gorman GS, Taylor RW.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2014 Apr 17.

6.

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF.

Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10.

PMID:
24727571
[PubMed - indexed for MEDLINE]
7.

Disease progression in patients with single, large-scale mitochondrial DNA deletions.

Grady JP, Campbell G, Ratnaike T, Blakely EL, Falkous G, Nesbitt V, Schaefer AM, McNally RJ, Gorman GS, Taylor RW, Turnbull DM, McFarland R.

Brain. 2014 Feb;137(Pt 2):323-34. doi: 10.1093/brain/awt321. Epub 2013 Nov 25.

PMID:
24277717
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

Alston CL, Schaefer AM, Raman P, Solaroli N, Krishnan KJ, Blakely EL, He L, Craig K, Roberts M, Vyas A, Nixon J, Horvath R, Turnbull DM, Karlsson A, Gorman GS, Taylor RW.

Neurology. 2013 Dec 3;81(23):2051-3. doi: 10.1212/01.wnl.0000436931.94291.e6. Epub 2013 Nov 6.

PMID:
24198295
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences.

Galna B, Newman J, Jakovljevic DG, Bates MG, Schaefer AM, McFarland R, Turnbull DM, Trenell MI, Gorman GS, Rochester L.

J Neurol. 2014 Jan;261(1):73-82. doi: 10.1007/s00415-013-7129-2. Epub 2013 Oct 23.

PMID:
24150688
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.

Yu-Wai-Man C, Smith FE, Firbank MJ, Guthrie G, Guthrie S, Gorman GS, Taylor RW, Turnbull DM, Griffiths PG, Blamire AM, Chinnery PF, Yu-Wai-Man P.

PLoS One. 2013 Sep 27;8(9):e75048. doi: 10.1371/journal.pone.0075048. eCollection 2013.

PMID:
24086434
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.

Bates MG, Newman JH, Jakovljevic DG, Hollingsworth KG, Alston CL, Zalewski P, Klawe JJ, Blamire AM, MacGowan GA, Keavney BD, Bourke JP, Schaefer A, McFarland R, Newton JL, Turnbull DM, Taylor RW, Trenell MI, Gorman GS.

Int J Cardiol. 2013 Oct 9;168(4):3599-608. doi: 10.1016/j.ijcard.2013.05.062. Epub 2013 Jun 3.

PMID:
23742928
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Effects of herbal supplements on the bioactivation of chemotherapeutic agents.

Gorman GS, Coward L, Darby A, Rasberry B.

J Pharm Pharmacol. 2013 Jul;65(7):1014-25. doi: 10.1111/jphp.12055. Epub 2013 Mar 25.

PMID:
23738729
[PubMed - indexed for MEDLINE]
13.

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H.

Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12.

PMID:
23606453
[PubMed - indexed for MEDLINE]
14.

Initial development and validation of a mitochondrial disease quality of life scale.

Elson JL, Cadogan M, Apabhai S, Whittaker RG, Phillips A, Trennell MI, Horvath R, Taylor RW, McFarland R, McColl E, Turnbull DM, Gorman GS.

Neuromuscul Disord. 2013 Apr;23(4):324-9. doi: 10.1016/j.nmd.2012.12.012. Epub 2013 Feb 20.

PMID:
23433484
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The effect of Rho-associated kinase inhibition on the ocular penetration of timolol maleate.

Arnold JJ, Hansen MS, Gorman GS, Inoue T, Rao V, Spellen S, Hunsinger RN, Chapleau CA, Pozzo-Miller L, Stamer WD, Challa P.

Invest Ophthalmol Vis Sci. 2013 Feb 7;54(2):1118-26. doi: 10.1167/iovs.12-10583.

PMID:
23307957
[PubMed - indexed for MEDLINE]
Free Article
16.

Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers.

Bates MG, Hollingsworth KG, Newman JH, Jakovljevic DG, Blamire AM, MacGowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS.

Eur Heart J Cardiovasc Imaging. 2013 Jul;14(7):650-8. doi: 10.1093/ehjci/jes226. Epub 2012 Nov 4.

PMID:
23129433
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS.

Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29.

PMID:
23107649
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Diagnostic investigations of patients with chronic progressive external ophthalmoplegia.

Yu-Wai-Man P, Gorman GS, Taylor RW, Turnbull DM.

Br J Ophthalmol. 2012 Dec;96(12):1536. doi: 10.1136/bjophthalmol-2012-302566. Epub 2012 Sep 28. No abstract available.

PMID:
23024221
[PubMed - indexed for MEDLINE]
19.

Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load.

Hollingsworth KG, Gorman GS, Trenell MI, McFarland R, Taylor RW, Turnbull DM, MacGowan GA, Blamire AM, Chinnery PF.

Neuromuscul Disord. 2012 Jul;22(7):592-6. doi: 10.1016/j.nmd.2012.03.001. Epub 2012 Apr 17.

PMID:
22513320
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Distribution of perfluorooctanesulfonate and perfluorooctanoate into human plasma lipoprotein fractions.

Butenhoff JL, Pieterman E, Ehresman DJ, Gorman GS, Olsen GW, Chang SC, Princen HM.

Toxicol Lett. 2012 May 5;210(3):360-5. doi: 10.1016/j.toxlet.2012.02.013. Epub 2012 Feb 24.

PMID:
22387339
[PubMed - indexed for MEDLINE]

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