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Items: 39


A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.

Zierz CM, Baty K, Blakely EL, Hopton S, Falkous G, Schaefer AM, Hadjivassiliou M, Sarrigiannis PG, Ng YS, Taylor RW.

J Clin Med. 2019 Jun 4;8(6). pii: E789. doi: 10.3390/jcm8060789.


A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes.

Lim AZ, Blakely EL, Baty K, He L, Hopton S, Falkous G, McWilliam K, Cozens A, McFarland R, Taylor RW.

Mitochondrion. 2019 Jul;47:18-23. doi: 10.1016/j.mito.2019.04.007. Epub 2019 Apr 22.


Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network.

Vincent AE, White K, Davey T, Philips J, Ogden RT, Lawless C, Warren C, Hall MG, Ng YS, Falkous G, Holden T, Deehan D, Taylor RW, Turnbull DM, Picard M.

Cell Rep. 2019 Apr 2;27(1):321. doi: 10.1016/j.celrep.2019.03.051. No abstract available.


Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.

Perli E, Pisano A, Glasgow RIC, Carbo M, Hardy SA, Falkous G, He L, Cerbelli B, Pignataro MG, Zacara E, Re F, Della Monica PL, Morea V, Bonnen PE, Taylor RW, d'Amati G, Giordano C.

Sci Rep. 2019 Mar 25;9(1):5108. doi: 10.1038/s41598-019-41483-9.


ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, Falkous G, Williams D, Cox P, Meynert A, Raymond ES, Morrison H, Brown S, Allan E, Aligianis I, Jackson AP, Ramsahoye BH, von Kriegsheim A, Taylor RW, Finch AJ, FitzPatrick DR.

PLoS Genet. 2019 Mar 11;15(3):e1007605. doi: 10.1371/journal.pgen.1007605. eCollection 2019 Mar.


Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network.

Vincent AE, White K, Davey T, Philips J, Ogden RT, Lawless C, Warren C, Hall MG, Ng YS, Falkous G, Holden T, Deehan D, Taylor RW, Turnbull DM, Picard M.

Cell Rep. 2019 Jan 22;26(4):996-1009.e4. doi: 10.1016/j.celrep.2019.01.010. Epub 2019 Jan 15. Erratum in: Cell Rep. 2019 Apr 2;27(1):321.


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.


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 Dec;103(12):e564-e566. doi: 10.3324/haematol.2018.194464. Epub 2018 Jul 5. No abstract available.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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