G. Falkous

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

D. Dick, S. Hishon, D. Abraham, 1995, Postgraduate medical journal.

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

Robert W. Taylor, P. Chinnery, G. Falkous, 2017, Neurology: Genetics.

Oxidative damage to protein in sporadic motor neuron disease spinal cord

P. Ince, P. Shaw, G. Falkous, 1995, Annals of neurology.

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

Robert W. Taylor, N. Lax, Soo-Mi Park, 2015, Journal of neuropathology and experimental neurology.

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

Robert W. Taylor, D. Turnbull, H. Prokisch, 2017, JAMA neurology.

Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant

Robert W. Taylor, B. Schoser, G. Falkous, 2020, Neuromuscular Disorders.

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.

V. Preedy, G. Falkous, T. Peters, 2000, Alcoholism, clinical and experimental research.

Quantification of protease activities in synovial fluid from rheumatoid and osteoarthritis cases: comparison with antioxidant and free radical damage markers.

G. Falkous, D. Mantle, D. Walker, 1999, Clinica chimica acta; international journal of clinical chemistry.

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network

Robert W. Taylor, D. Turnbull, R. Ogden, 2019, Cell reports.

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

C. Maltin, G. Falkous, J. Harris, 1993, Biochimie.

Comparison of methods for determination of total antioxidant status: application to analysis of medicinal plant essential oils

E. Perry, G. Falkous, D. Mantle, 1998 .

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance

Robert W. Taylor, L. Hedstrom, P. Chinnery, 2019, Clinical genetics.

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

V. Preedy, David Steven Scott, D. Scott, 2001, The international journal of biochemistry & cell biology.

Cytoplasmic, lysosomal and matrix protease activities in spinal cord tissue from amyotrophic lateral sclerosis (ALS) and control patients

P. Ince, P. Shaw, G. Falkous, 1996, Journal of the Neurological Sciences.

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

V. Preedy, P. Richardson, G. Falkous, 1999, Frontiers in bioscience : a journal and virtual library.

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

C. Maltin, J. Haycock, G. Falkous, 1996, Clinica chimica acta; international journal of clinical chemistry.

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

Robert W. Taylor, D. Turnbull, I. Hargreaves, 2017, Scientific Reports.

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

G. Falkous, J. Harris, D. Mantle, 1995, Clinica chimica acta; international journal of clinical chemistry.

Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy

L. Rochester, L. Alcock, S. Del Din, 2022, Trials.

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

Robert W. Taylor, D. Turnbull, P. Corris, 2018, Pulmonary circulation.

Neuronal anti-nuclear antibody in paraneoplastic sensory neuronopathy

J. Xuereb, D. Dick, G. Falkous, 1988, Journal of the Neurological Sciences.

Comparison of aminopeptidase inhibition by amino acids in human and porcine skeletal muscle tissues in vitro

F. Toldrá, M. Flores, G. Falkous, 1996 .

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network

Robert W. Taylor, D. Turnbull, R. Ogden, 2019, Cell reports.

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

E. Perry, G. Falkous, D. Mantle, 1999, Clinica chimica acta; international journal of clinical chemistry.

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

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2015, Clinical science.

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network

Robert W. Taylor, D. Turnbull, R. Ogden, 2019, Cell reports.

Sub-cellular Running head: Pathogenesis of mtDNA deletion clonal expansion

D. Turnbull, C. Lawless, M. Picard, 2018 .

Comparison of proline endopeptidase activity in brain tissue from normal cases and cases with Alzheimer's disease, Lewy body dementia, Parkinson's disease and Huntington's disease.

E. Perry, S. Ishiura, G. Falkous, 1996, Clinica chimica acta; international journal of clinical chemistry.

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy

Martin Picard, Grainne S. Gorman, Robert W. Taylor, 2016, Scientific Reports.

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

Robert W. Taylor, A. Schaefer, P. Sarrigiannis, 2019, Journal of clinical medicine.

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

Robert W. Taylor, P. Bonnen, V. Morea, 2019, Scientific Reports.

Subcellular origin of mitochondrial DNA deletions in human skeletal muscle

Robert W. Taylor, C. Cooper, D. Turnbull, 2018, Annals of neurology.

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

C. Harwood, G. Falkous, J. Harris, 1989, Journal of the Neurological Sciences.

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

Robert W. Taylor, H. Lochmüller, G. Falkous, 2020, Neuromuscular Disorders.

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

Robert W. Taylor, F. Norwood, G. Gorman, 2018, Haematologica.

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease

Robert W. Taylor, M. Moedas, J. Poulton, 2022, Human molecular genetics.

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

Robert W. Taylor, W. Kunz, G. Falkous, 2017, Neurology: Genetics.

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

Robert W. Taylor, D. Turnbull, R. McNally, 2013, Brain : a journal of neurology.

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

Robert W. Taylor, N. Lax, Soo-Mi Park, 2015 .

Dystrophin or a “related protein” in Duchenne muscular dystrophy?

M. Johnson, M. Barron, G. Falkous, 1992, Acta neurologica Scandinavica.

Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency

Robert W. Taylor, A. Schaefer, G. Falkous, 2020, Frontiers in Genetics.

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Robert W. Taylor, H. Smeets, G. Falkous, 2019, Neuromuscular Disorders.

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

V. Preedy, G. Falkous, T. Peters, 1999, Clinica chimica acta; international journal of clinical chemistry.

Comparison of protease and related enzyme activities in snake venoms.

G. Falkous, J. Harris, D. Mantle, 1996, Comparative Biochemistry and Physiology Part B Comparative Biochemistry.

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

Robert W. Taylor, J. Bourke, N. Lax, 2015, European heart journal.

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

Robert W. Taylor, D. Turnbull, M. Rose, 2016, Neurology: Genetics.

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

Robert W. Taylor, D. Turnbull, B. Chakrabarti, 2014, Neuromuscular Disorders.

A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity

Robert W. Taylor, H. Willison, M. Reilly, 2021, Neuromuscular Disorders.

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

C. Toro, C. Gustafsson, L. Wolfe, 2023, EMBO molecular medicine.

Comparison of cathepsin protease activities in brain tissue from normal cases and cases with Alzheimer's disease, Lewy body dementia, Parkinson's disease and Huntington's disease

E. Perry, R. Perry, S. Ishiura, 1995, Journal of the Neurological Sciences.

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

Robert W. Taylor, Mark T. Handley, A. von Kriegsheim, 2019, PLoS genetics.

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

Robert W. Taylor, Mark T. Handley, A. von Kriegsheim, 2018, bioRxiv.

Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy

A. Schaefer, G. Falkous, R. Taylor, 2022, BMJ Neurology Open.

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

Robert W. Taylor, D. Turnbull, R. Haller, 2012, Neuromuscular Disorders.

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

Robert W. Taylor, G. Falkous, R. Mcfarland, 2019, Mitochondrion.

Differential susceptibility of skeletal muscle proteins to free radical-induced oxidative damage in vitro

J. Haycock, G. Falkous, D. Mantle, 1998 .

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

P. Bonnen, V. Morea, F. Re, 2019, Scientific Reports.