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Items: 33

1.

Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.

Vincent AE, Rosa HS, Pabis K, Lawless C, Chen C, Grünewald A, Rygiel KA, Rocha MC, Reeve AK, Falkous G, Perissi V, White K, Davey T, Petrof BJ, Sayer AA, Cooper C, Deehan D, Taylor RW, Turnbull DM, Picard M.

Ann Neurol. 2018 Aug;84(2):289-301. doi: 10.1002/ana.25288. Epub 2018 Aug 21.

2.

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.

Smith F, Hopton S, Dallabona C, Gilberti M, Falkous G, Norwood F, Donnini C, Gorman GS, Clark B, Taylor RW, Kulasekararaj AG.

Haematologica. 2018 Jul 5. pii: haematol.2018.194464. doi: 10.3324/haematol.2018.194464. [Epub ahead of print] No abstract available.

3.

Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study.

Sithamparanathan S, Rocha MC, Parikh JD, Rygiel KA, Falkous G, Grady JP, Hollingsworth KG, Trenell MI, Taylor RW, Turnbull DM, Gorman GS, Corris PA.

Pulm Circ. 2018 Apr-Jun;8(2):2045894018768290. doi: 10.1177/2045894018768290.

4.

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

Ahmed ST, Alston CL, Hopton S, He L, Hargreaves IP, Falkous G, Oláhová M, McFarland R, Turnbull DM, Rocha MC, Taylor RW.

Sci Rep. 2017 Nov 15;7(1):15676. doi: 10.1038/s41598-017-14623-2.

5.

De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.

Sommerville EW, Alston CL, Pyle A, He L, Falkous G, Naismith K, Chinnery PF, McFarland R, Taylor RW.

Neurol Genet. 2017 Sep 22;3(5):e187. doi: 10.1212/NXG.0000000000000187. eCollection 2017 Oct.

6.

Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls.

Reimann J, Lehmann D, Hardy SA, Falkous G, Knowles CV, Jones RL, Kunz WS, Taylor RW, Kornblum C.

Neurol Genet. 2017 Apr 5;3(3):e147. doi: 10.1212/NXG.0000000000000147. eCollection 2017 Jun. No abstract available.

7.

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS.

JAMA Neurol. 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357.

8.

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

Hardy SA, Blakely EL, Purvis AI, Rocha MC, Ahmed S, Falkous G, Poulton J, Rose MR, O'Mahony O, Bermingham N, Dougan CF, Ng YS, Horvath R, Turnbull DM, Gorman GS, Taylor RW.

Neurol Genet. 2016 Jun 23;2(4):e82. doi: 10.1212/NXG.0000000000000082. eCollection 2016 Aug.

9.

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.

Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, Turnbull DM, Picard M.

Sci Rep. 2016 Aug 10;6:30610. doi: 10.1038/srep30610. Review.

10.

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.

Ng YS, Grady JP, Lax NZ, Bourke JP, Alston CL, Hardy SA, Falkous G, Schaefer AG, Radunovic A, Mohiddin SA, Ralph M, Alhakim A, Taylor RW, McFarland R, Turnbull DM, Gorman GS.

Eur Heart J. 2016 Aug 21;37(32):2552-9. doi: 10.1093/eurheartj/ehv306. Epub 2015 Jul 17.

11.

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

Lax NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW.

J Neuropathol Exp Neurol. 2015 Jul;74(7):688-703. doi: 10.1097/NEN.0000000000000209.

12.

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.

Gorman GS, Blakely EL, Hornig-Do HT, Tuppen HA, Greaves LC, He L, Baker A, Falkous G, Newman J, Trenell MI, Lecky B, Petty RK, Turnbull DM, McFarland R, Taylor RW.

Clin Sci (Lond). 2015 Jun;128(12):895-904. doi: 10.1042/CS20140705.

13.

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.

14.

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.

15.

Cytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathy.

Murphy JL, Ratnaike TE, Shang E, Falkous G, Blakely EL, Alston CL, Taivassalo T, Haller RG, Taylor RW, Turnbull DM.

Neuromuscul Disord. 2012 Aug;22(8):690-8. doi: 10.1016/j.nmd.2012.04.003. Epub 2012 May 28.

16.

Skeletal muscle protein loss due to D-penicillamine results from reduced protein synthesis.

Preedy VR, Wassif WS, Baldwin D, Jones J, Falkous G, Marway JS, Mantle D, Scott DL.

Int J Biochem Cell Biol. 2001 Oct;33(10):1013-26.

PMID:
11470234
17.

Carbonyl levels in type I and II fiber-rich muscles and their response to chronic ethanol feeding in vivo and hydroxyl and superoxide radicals in vitro.

Koo-Ng R, Falkous G, Reilly M, Peters TJ, Mantle D, Preedy VR.

Alcohol Clin Exp Res. 2000 Dec;24(12):1862-8.

PMID:
11141046
18.

Effect of flavonoids on protease activities in human skeletal muscle tissue in vitro.

Mantle D, Falkous G, Perry EK.

Clin Chim Acta. 1999 Jul;285(1-2):13-20.

PMID:
10481919
20.

Oxidants, antioxidants and alcohol: implications for skeletal and cardiac muscle.

Preedy VR, Patel VB, Reilly ME, Richardson PJ, Falkous G, Mantle D.

Front Biosci. 1999 Aug 1;4:e58-66. Review.

PMID:
10430553
21.

Effect of ethanol and acetaldehyde on intracellular protease activities in human liver, brain and muscle tissues in vitro.

Mantle D, Falkous G, Peters TJ, Preedy VR.

Clin Chim Acta. 1999 Mar;281(1-2):101-8.

PMID:
10217631
22.
23.
24.

Effect of prednisone on protease activities and structural protein levels in rat muscles in vivo.

Haycock JW, Falkous G, Maltin CA, Delday MI, Mantle D.

Clin Chim Acta. 1996 May 30;249(1-2):47-58.

PMID:
8737591
25.

Comparison of protease and related enzyme activities in snake venoms.

Faiz MA, Falkous G, Harris JB, Mantle D.

Comp Biochem Physiol B Biochem Mol Biol. 1996 Jan;113(1):199-204.

PMID:
8936054
26.

Oxidative damage to protein in sporadic motor neuron disease spinal cord.

Shaw PJ, Ince PG, Falkous G, Mantle D.

Ann Neurol. 1995 Oct;38(4):691-5.

PMID:
7574472
27.

Effect of neurotoxic metal ions in vitro on proteolytic enzyme activities in human cerebral cortex.

Falkous G, Harris JB, Mantle D.

Clin Chim Acta. 1995 Jul 14;238(2):125-35.

PMID:
7586572
29.

Cerebellar ataxia in coeliac disease--no evidence of a humoral aetiology.

Dick DJ, Abraham D, Falkous G, Hishon S.

Postgrad Med J. 1995 Mar;71(833):186. No abstract available.

30.

Effect of growth promoters on pig muscle structural protein and proteolytic enzyme levels in vivo and in vitro.

Blanchard P, Ellis M, Maltin C, Falkous G, Harris JB, Mantle D.

Biochimie. 1993;75(10):839-47.

PMID:
7906148
31.

Dystrophin or a "related protein" in Duchenne muscular dystrophy?

Nicholson LV, Johnson MA, Davison K, O'Donnell E, Falkous G, Barron M, Harris JB.

Acta Neurol Scand. 1992 Jul;86(1):8-14.

PMID:
1519480
32.

Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody.

Nicholson LV, Davison K, Falkous G, Harwood C, O'Donnell E, Slater CR, Harris JB.

J Neurol Sci. 1989 Dec;94(1-3):125-36.

PMID:
2693617
33.

Neuronal anti-nuclear antibody in paraneoplastic sensory neuronopathy.

Dick DJ, Harris JB, Falkous G, Foster JB, Xuereb JH.

J Neurol Sci. 1988 May;85(1):1-8.

PMID:
2838583

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