Robert W. Taylor

发表

Multipotent Basal Stem Cells, Maintained in Localized Proximal Niches, Support Directed Long-Ranging Epithelial Flows in Human Prostates

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2017, Cell reports.

Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2012, PLoS genetics.

Gut Motility Issues in Critical Illness.

Robert W. Taylor, Robert W. Taylor, 2016, Critical care clinics.

Karyotype evolution in Australian ants

Robert W. Taylor, R. Crozier, H. Imai, 1977, Chromosoma.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Robert W. Taylor, M. Simpson, R. Rodenburg, 2016, American journal of human genetics.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Robert W. Taylor, M. Simpson, R. Rodenburg, 2016, American journal of human genetics.

Kunji ERS, Taylor RW. Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA

Robert W. Taylor, M. Simpson, R. Rodenburg, 2016 .

Recurrent De Novo Dominant Mutations in SLC 2 SA 4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy

Robert W. Taylor, M. Simpson, R. Rodenburg, 2022 .

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

Robert W. Taylor, J. Bourke, D. Turnbull, 2012, European heart journal.

Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2020, Nature Cancer.

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging

Robert W. Taylor, Christopher A. Lavender, T. Kunkel, 2020, Genome biology.

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level

Robert W. Taylor, D. Turnbull, C. Lawless, 2019, Nucleic acids research.

What causes mitochondrial DNA deletions in human cells?

David C Samuels, Patrick F Chinnery, Robert W Taylor, 2008, Nature Genetics.

The feasibility of muscle mitochondrial respiratory chain phenotyping across the cognitive spectrum in Parkinson's disease

Robert W. Taylor, D. Turnbull, A. Yarnall, 2020, Experimental Gerontology.

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

Robert W. Taylor, D. Turnbull, J. Lindon, 2015, Kidney international.

Recombinant Human Interleukin 1 Receptor Antagonist in the Treatment of Patients With Sepsis Syndrome: Results From a Randomized, Double-blind, Placebo-Controlled Trial

R. F. Johnston, Robert W. Taylor, Steven C. Johnson, 1994 .

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Robert W. Taylor, H. Prokisch, M. Simpson, 2015, Brain : a journal of neurology.

A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis

Robert W. Taylor, D. Turnbull, A. Grünewald, 2015, Scientific Reports.

Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.

Robert W. Taylor, W. Craigen, P. Bonnen, 2013, American journal of human genetics.

Making a difference together: reciprocal interactions in C. elegans and zebrafish asymmetric neural development

Robert W. Taylor, C. Chuang, J. Gamse, 2010, Development.

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

Robert W. Taylor, E. Bertini, R. Carrozzo, 2016, Journal of Inherited Metabolic Disease.

Mutations causing mitochondrial disease: What is new and what challenges remain?

Robert W. Taylor, D. Turnbull, R. Lightowlers, 2015, Science.

Mitochondrial DNA mutations in human colonic crypt stem cells.

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2003, The Journal of clinical investigation.

Mechanisms of field cancerization in the human stomach: the expansion and spread of mutated gastric stem cells.

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2008, Gastroenterology.

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

Leena Peltonen, Vineta Fellman, Anu Suomalainen, 2002, American journal of human genetics.

SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

Robert W. Taylor, N. Kaya, D. Çolak, 2021, JIMD reports.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, Genome Medicine.

Central venous catheterization.

Robert W. Taylor, J. Newton, D. Sprigings, 2007, Critical care medicine.

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

Robert W. Taylor, D. Turnbull, L. Nijtmans, 2005, The FEBS journal.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Thomas Meitinger, Gabi Kastenmüller, Jerzy Adamski, 2017, Nature Communications.

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Robert W. Taylor, J. Lupski, S. Ellard, 2020, American journal of human genetics.

The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines

Robert W. Taylor, H. Prokisch, G. Hudson, 2021, The Journal of pathology.

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion

Robert W. Taylor, P. Bonnen, V. Appadurai, 2018, Human mutation.

The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.

Robert W. Taylor, S. Lalani, W. Craigen, 2015, Cell metabolism.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Low-dose inhaled nitric oxide in patients with acute lung injury: a randomized controlled trial.

Robert W. Taylor, J. Zimmerman, G. Criner, 2004, JAMA.

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

Robert W. Taylor, D. Turnbull, C. Morris, 2006, Nature Genetics.

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Robert W. Taylor, N. Lax, P. Bonnen, 2018, EMBO molecular medicine.

Dysferlin mutations and mitochondrial dysfunction

Robert W. Taylor, D. Turnbull, R. Barresi, 2016, Neuromuscular Disorders.

Detection of pathogenic splicing events from RNA-sequencing data using dasper

Robert W. Taylor, F. Muntoni, M. Ryten, 2021, bioRxiv.

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

Robert W. Taylor, K. Bhatia, F. Alkuraya, 2021, Movement disorders clinical practice.

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency

Robert W. Taylor, H. Prokisch, R. Mcfarland, 2021, Journal of inherited metabolic disease.

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression

Robert W. Taylor, D. Turnbull, E. Wassmer, 2021, Annals of neurology.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Robert W. Taylor, W. Chung, D. Fisk, 2021, Genetics in Medicine.

Mitochondrial disease in adults: recent advances and future promise

Robert W. Taylor, D. Turnbull, M. Mancuso, 2021, The Lancet Neurology.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

Robert W. Taylor, Ogun Adebali, C. Eraslan, 2020, Molecular genetics and metabolism reports.

The genetic basis of isolated mitochondrial complex II deficiency

Robert W. Taylor, C. Alston, R. Mcfarland, 2020, Molecular genetics and metabolism.

De novo mtDNA point mutations are common and have a low recurrence risk

Robert W. Taylor, H. Smeets, C. D. de Die-Smulders, 2016, Journal of Medical Genetics.

SURF1 deficiency: a multi-centre natural history study

Robert W. Taylor, E. Aasheim, S. Rahman, 2013, Orphanet Journal of Rare Diseases.

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

Robert W. Taylor, A. Pagnamenta, M. Bitner-Glindzicz, 2006, Human reproduction.

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

Robert W. Taylor, D. Turnbull, Hanns Lochmüller, 2013, Human molecular genetics.

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

Robert W. Taylor, J. Kemp, P. Chinnery, 2010, Brain : a journal of neurology.

Case report: Hodgkin's disease involving the large bowel

S. Proctor, M. Curtis, R. Evans, 1988 .

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Robert W. Taylor, Alexis A. Jourdain, V. Mootha, 2017, American journal of human genetics.

Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

Robert W. Taylor, D. Turnbull, E. Larsson, 2018, Molecular cell.

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.

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

Robert W. Taylor, A. Rötig, N. Hauser, 2019, Genetics in Medicine.

Recent advances in understanding the molecular genetic basis of mitochondrial disease

Robert W. Taylor, C. Alston, R. Mcfarland, 2019, Journal of inherited metabolic disease.

Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions

Robert W. Taylor, E. Larsson, C. Gustafsson, 2019, Nature Communications.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2024, American journal of human genetics.

Nuclear genetic disorders of mitochondrial DNA gene expression

Robert W. Taylor, R. Mcfarland, T. Nicholls, 2020 .

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

Robert W. Taylor, D. Turnbull, P. Chinnery, 2008, Brain : a journal of neurology.

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

Robert W. Taylor, D. Turnbull, P. Chinnery, 2002, Nucleic acids research.

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.

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

Robert W. Taylor, D. Turnbull, P. Chinnery, 2015, Annals of neurology.

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Robert W. Taylor, H. Prokisch, M. Simpson, 2017, neurogenetics.

Mitochondrial DNA mutations and human disease.

Robert W. Taylor, D. Turnbull, H. Tuppen, 2010, Biochimica et biophysica acta.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Thomas Meitinger, Julien Gagneur, Holger Prokisch, 2015, American journal of human genetics.

Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features.

Robert W. Taylor, C. Autore, V. Petrozza, 2013, Human pathology.

Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism

Y. Huang, D. Adams, M. Sincan, 2018, Clinical genetics.

The investigation and management of metabolic myopathies

Robert W. Taylor, R. Kirk, R. Quinlivan, 2015, Journal of Clinical Pathology.

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

Robert W. Taylor, L. Schöls, M. Koenig, 2021, The New England journal of medicine.

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

Robert W. Taylor, D. Turnbull, A. Compton, 2011, European Journal of Human Genetics.

Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia

Robert W. Taylor, D. Turnbull, P. Chinnery, 2006 .

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

Robert W. Taylor, D. Turnbull, P. Chinnery, 2006, American journal of human genetics.

The Effect of tRNA[Ser]Sec Isopentenylation on Selenoprotein Expression

Robert W. Taylor, Tsutomu Suzuki, M. Helm, 2021, International journal of molecular sciences.

Risk of developing a mitochondrial DNA deletion disorder

Robert W. Taylor, S. Dimauro, E. Schon, 2004, The Lancet.

Critical Care, 2nd Edition

Robert W. Taylor, R. Kirby, J. Civetta, 1992 .

Experimental Strategies Towards Treating Mitochondrial DNA Disorders

Robert W. Taylor, D. Turnbull, L. Craven, 2007, Bioscience reports.

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

Robert W. Taylor, K. Caldecott, A. D. de Brouwer, 2018, Neurology: Genetics.

Con fi rming TDP 2 mutation in spinocerebellar ataxia autosomal recessive 23 ( SCAR 23 )

Robert W. Taylor, D. Niyazov, K. Thompson, 2019 .

mtDNA disease for the neurologist

Robert W. Taylor, D. Turnbull, R. Whittaker, 2011 .

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.

The neurology of mitochondrial DNA disease

Robert W. Taylor, D. Turnbull, R. Mcfarland, 2002, The Lancet Neurology.

The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease

Laura C. Greaves, Robert W. Taylor, R. Lightowlers, 2015, Mitochondrion.

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential

Laura C. Greaves, Robert W. Taylor, R. Rodenburg, 2013, Human molecular genetics.

Prevalence of mitochondrial DNA disease in adults

Robert W. Taylor, D. Turnbull, P. Chinnery, 2008, Annals of neurology.

Adult-onset Mendelian PEO Associated with Mitochondrial Disease.

Robert W. Taylor, P. Chinnery, G. Gorman, 2014, Journal of neuromuscular diseases.

Mosaic dysfunction of mitophagy in mitochondrial muscle disease

Robert W. Taylor, T. G. McWilliams, A. Suomalainen, 2022, Cell metabolism.

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

Robert W. Taylor, S. Dimauro, D. Turnbull, 2003, Journal of the American College of Cardiology.

A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy

Robert W. Taylor, D. Turnbull, A. Schaefer, 2002, Neuromuscular Disorders.

Chapter 7 Current and Future Prospects for the Treatment of Mitochondrial Disorders

Robert W. Taylor, D. Turnbull, Robert W. Taylor, 2002 .

Universal heteroplasmy of human mitochondrial DNA

David C. Samuels, Ian J. Wilson, Patrick F. Chinnery, 2012, Human molecular genetics.

Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo

Robert W. Taylor, D. Turnbull, M. Lako, 2018, Scientific Reports.

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

Robert W. Taylor, H. Lochmüller, R. Horvath, 2019, European Journal of Human Genetics.

Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease

Robert W. Taylor, N. Lax, D. Turnbull, 2015, Neuropathology and Applied Neurobiology.

Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed-Sternberg cells.

Robert W. Taylor, J. Elson, R. Wiesner, 2020, Carcinogenesis.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary

Robert W. Taylor, S. Dimauro, D. Turnbull, 2006 .

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Robert W. Taylor, D. Turnbull, M. Zeviani, 2006, Brain : a journal of neurology.

POLRMT mutations impair mitochondrial transcription causing neurological disease

Robert W. Taylor, M. Tarnopolsky, H. Ropers, 2021, Nature Communications.

Hemodynamics and Vascular Endothelial Biology

Robert M. Nerem, Robert W. Taylor, R. Nerem, 1993, Journal of cardiovascular pharmacology.

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Robert W. Taylor, M. Minczuk, T. Wieland, 2013, American journal of human genetics.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

Robert W. Taylor, E. Haan, Pedro Rebelo-Guiomar, 2018, bioRxiv.

Leigh disease associated with a novel mitochondrial DNA ND5 mutation

Robert W Taylor, Robert W. Taylor, Michael K. Hutchinson, 2002, European Journal of Human Genetics.

Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene

Robert W. Taylor, D. Turnbull, P. Smith, 2001, Annals of neurology.

The genotypic and phenotypic spectrum of MTO1 deficiency

C. Ross, W. Wasserman, H. Prokisch, 2018, Molecular genetics and metabolism.

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Robert W. Taylor, Aaron R D'Souza, M. Minczuk, 2015, American journal of human genetics.

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Robert W. Taylor, T. Strom, M. Zeviani, 2013, Human mutation.

Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase gamma in vitro is not impaired.

Robert W. Taylor, D. Turnbull, R. Lightowlers, 2003, Biochimica et biophysica acta.

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy

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

Mitochondrial DNA mutations in human disease

Robert W. Taylor, D. Turnbull, Doug M. Turnbull, 2005, Nature Reviews Genetics.

Locating the stem cell niche and tracing hepatocyte lineages in human liver

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2009, Hepatology.

Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects

Robert W. Taylor, M. Zamzami, T. Florin, 2013, Journal of Hematology & Oncology.

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Robert W. Taylor, H. Smeets, M. Zeviani, 2016, Human molecular genetics.

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

Robert W. Taylor, M. Santibanez-Koref, P. Chinnery, 2014, Genetics in Medicine.

A national perspective on prenatal testing for mitochondrial disease

Robert W. Taylor, D. Turnbull, J. Poulton, 2014, European Journal of Human Genetics.

Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.

Robert W. Taylor, P. Chinnery, P. Yu-Wai-Man, 2013, JAMA neurology.

Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Joanna Poulton, Robert W Taylor, Robert W. Taylor, 2013, Human mutation.

PP-41 DETERMINATION OF MUTATION LOADS IN PREIMPLANTATION EMBRYOS TO ASSESS THE EFFECTIVENESS OF PREIMPLANTATION GENETIC DIAGNOSIS (PGD) FOR MITOCHONDRIAL DNA (MTDNA) INHERITED DISORDERS

S. Byerley, M. Herbert, D. Turnbull, 2012 .

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

Patrick F Chinnery, Robert W Taylor, Robert W. Taylor, 2010, Nature.

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough.

Robert W. Taylor, D. Turnbull, N. Howell, 2004, Trends in genetics : TIG.

Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells

Robert W. Taylor, D. Turnbull, P. Chinnery, 2004, European Journal of Human Genetics.

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network

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

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase.

Robert W. Taylor, V. Tiranti, M. Zeviani, 2017, Cell reports.

MR-1S Interactswith PET100andPET117 inModule- Based Assembly of Human Cytochrome c Oxidase

Robert W. Taylor, V. Tiranti, M. Zeviani, 2017 .

The effect of red blood cell transfusion on tissue oxygenation and microcirculation in severe septic patients

Robert W. Taylor, J. O’Brien, F. Sadaka, 2011, Annals of intensive care.

protein for extracellular matrix components immobilization reveals alterations in mRNA and Analysis of human skeletal muscle after 48 h

Robert W. Taylor, S. Severini, A. Teschendorff, 2015 .

Chapter 60 – Adrenal Insufficiency in the Critically Ill Patient

Robert W. Taylor, Robert W. Taylor, 2008 .

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

Robert W. Taylor, D. Turnbull, R. McNally, 2018, EMBO molecular medicine.

Mitochondrial DNA mutations in human disease

Laura C. Greaves, Robert W. Taylor, Robert W. Taylor, 2006, IUBMB life.

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

Robert W. Taylor, H. Mandel, P. Yu-Wai-Man, 2015, Journal of Medical Genetics.

Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure

Robert W. Taylor, C. Nediani, V. Petrozza, 2016, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

muscular dystrophy The role of free radicals in the pathophysiology of

Robert W. Taylor, F. Muntoni, Paul L Huang, 2015 .

Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.

Robert W. Taylor, P. Chinnery, L. Diogo, 2016, JIMD reports.

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

Beril Talim, Patrick F Chinnery, Robert W Taylor, 2014, JAMA.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Robert W. Taylor, S. Dimauro, H. Smeets, 2012, Brain : a journal of neurology.

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.

Robert W. Taylor, D. Turnbull, Andrew Gibson, 2007, Archives of neurology.

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Robert W. Taylor, J. Gagneur, E. Génin, 2016, American journal of human genetics.

The genetics and pathology of mitochondrial disease

Robert W Taylor, Robert W. Taylor, N. Lax, 2016, The Journal of pathology.

Asymmetric Inhibition of Ulk2 Causes Left–Right Differences in Habenular Neuropil Formation

Robert W. Taylor, D. Klionsky, C. Moens, 2011, The Journal of Neuroscience.

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

Robert W. Taylor, V. Mootha, V. Ramesh, 2016, Neurology: Genetics.

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

Robert W. Taylor, D. Turnbull, A. Blamire, 2012, European heart journal cardiovascular Imaging.

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

Robert W. Taylor, F. H. van der Westhuizen, A. Peet, 2012, Journal of Medical Genetics.

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

Robert W. Taylor, J. A. Arranz, F. Tort, 2016, Mitochondrion (Amsterdam. Print).

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

Robert W. Taylor, L. Bindoff, Z. Chrzanowska-Lightowlers, 2010, Biochimica et biophysica acta.

Four pandemics: lessons learned, lessons lost

Robert W. Taylor, G. Varrassi, P. Magnusson, 2020 .

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

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

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Robert W. Taylor, M. Minczuk, E. Bertini, 2014, American journal of human genetics.

Ants with Attitude: Australian Jack-jumpers of the Myrmecia pilosula species complex, with descriptions of four new species (Hymenoptera: Formicidae: Myrmeciinae).

Robert W. Taylor, Robert W. Taylor, 2015, Zootaxa.

Causes of ant sting anaphylaxis in Australia: the Australian Ant Venom Allergy Study

Robert W. Taylor, M. Wiese, Simon G. A. Brown, 2011, The Medical journal of Australia.

Pilosulin 5, a novel histamine-releasing peptide of the Australian ant, Myrmecia pilosula (Jack Jumper Ant).

Robert W. Taylor, M. Wiese, N. Davies, 2008, Archives of biochemistry and biophysics.

Subcellular origin of mitochondrial DNA deletions in human skeletal muscle

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

Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2014, PLoS genetics.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Robert W. Taylor, I. Harting, T. Meitinger, 2018, Genetics in Medicine.

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency

Robert W. Taylor, D. Wallace, C. Toro, 2018, Human mutation.

Mitochondrial and inflammatory changes in sporadic inclusion body myositis

Robert W. Taylor, D. Turnbull, J. Grady, 2015, Neuropathology and applied neurobiology.

Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease

Robert W. Taylor, H. Prokisch, H. Mandel, 2018, Human mutation.

A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

Robert W. Taylor, I. Hochberg, W. Newman, 2017, bioRxiv.

A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways

Robert W. Taylor, R. Cox, H. Cater, 2018, Cell reports.

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

Robert W. Taylor, P. Chinnery, R. Horvath, 2015, Front. Genet..

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

Robert W. Taylor, I. Simonic, S. Mehta, 2014, Biochimica et biophysica acta.

A Wars 2 Mutant Mouse M odel Displays OXPHOS Deficiencies andActivation of Tissue-Specific Stress Response Pathways Graphical

Robert W. Taylor, R. Cox, H. Cater, 2018 .

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

Robert W. Taylor, D. Turnbull, R. Lightowlers, 2002, Nature Genetics.

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

Robert W. Taylor, D. Turnbull, P. Chinnery, 2017, Neurology: Genetics.

Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry

Robert W. Taylor, D. Turnbull, C. Lawless, 2020, Scientific Reports.

Clinical and biochemical features associated with BCS1L mutation

Robert W. Taylor, N. Kaya, D. Çolak, 2013, Journal of Inherited Metabolic Disease.

A Methodological Approach to Tracing Cell Lineage in Human Epithelial Tissues

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2009, Stem cells.

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.

Robert W. Taylor, D. Turnbull, W. Copeland, 2012, Mitochondrion.

Clonally Expanded Mitochondrial DNA Mutations in Epileptic Individuals With Mutated DNA Polymerase &ggr;

Robert W. Taylor, C. Elger, P. Chinnery, 2008, Journal of neuropathology and experimental neurology.

POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism

Robert W. Taylor, G. Stevanin, P. Bonnen, 2016, Annals of clinical and translational neurology.

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

Robert W. Taylor, D. Turnbull, M. Martikainen, 2016, JAMA neurology.

Endocrine disorders in mitochondrial disease☆

Robert W. Taylor, M. Walker, D. Turnbull, 2013, Molecular and Cellular Endocrinology.

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

Robert W. Taylor, D. Turnbull, U. Pohl, 2012, Brain : a journal of neurology.

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia

Robert W. Taylor, P. Chinnery, G. Hudson, 2005, Neuromuscular Disorders.

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

Robert W. Taylor, D. Turnbull, R. Kiefer, 2003, Neuromuscular Disorders.

Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids

Robert W. Taylor, D. Turnbull, P. Chinnery, 1997, Nature Genetics.

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Robert W. Taylor, N. Ashley, A. Seller, 2013, European Journal of Human Genetics.

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

Robert W. Taylor, P. Chinnery, R. Horvath, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Resolving complexity in mitochondrial disease: Towards precision medicine.

Robert W. Taylor, R. Mcfarland, A. Lim, 2019, Molecular genetics and metabolism.

Mitochondrial tRNA mutations and disease

Robert W Taylor, Robert W. Taylor, J. Elson, 2010, Wiley interdisciplinary reviews. RNA.

Diabetes Mellitus in Mitochondrial Disease

Robert W. Taylor, A. Schaefer, Y. Ng, 2017 .

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

Robert W. Taylor, M. Simpson, P. Bonnen, 2016, Journal of Inherited Metabolic Disease.

The diagnosis of mitochondrial muscle disease

Robert W. Taylor, D. Turnbull, M. Barron, 2004, Neuromuscular Disorders.

Assessment of mitochondrial respiratory chain enzymes in cells and tissues.

Robert W. Taylor, D. Turnbull, Ann E. Frazier, 2020, Methods in cell biology.

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

Robert W. Taylor, H. Prokisch, R. Lightowlers, 2014, European Journal of Human Genetics.

Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes

Robert W. Taylor, H. Fuchs, W. Wurst, 2021, EMBO molecular medicine.

Interrogating Mitochondrial Biology and Disease Using CRISPR/Cas9 Gene Editing

Robert W. Taylor, A. Pyle, M. Oláhová, 2021, Genes.

Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.

Robert W. Taylor, M. Westphall, H. Prokisch, 2016, Molecular cell.

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

Robert W. Taylor, R. Mcinnes, D. Turnbull, 2011, Human molecular genetics.

Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3.

Robert W. Taylor, A. Slama, A. Lèbre, 2016, Free radical biology & medicine.

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.

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors

Robert W. Taylor, D. Turnbull, H. Cordell, 2018, Annals of clinical and translational neurology.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Robert W. Taylor, R. Durbin, T. Wieland, 2015, Annals of clinical and translational neurology.

Activated protein C in septic shock: a propensity-matched analysis

Robert W. Taylor, J. O’Brien, F. Sadaka, 2011, Critical care.

A neurological perspective on mitochondrial disease

Robert W. Taylor, D. Turnbull, R. Mcfarland, 2010, The Lancet Neurology.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Arnold Munnich, Aleksandra Filipovska, Patrick F Chinnery, 2016, American journal of human genetics.

Allosteric Antagonism of Insect Odorant Receptor Ion Channels

Robert W. Taylor, A. Waterson, L. Zwiebel, 2012, PloS one.

Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency

Robert W. Taylor, D. Turnbull, J. Ehinger, 2016, Nature Communications.

Metabolic effects of bezafibrate in mitochondrial disease

Robert W. Taylor, L. Bottolo, P. Chinnery, 2020, EMBO molecular medicine.

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

Robert W. Taylor, Carol J. Saunders, C. Saunders, 2018, Human molecular genetics.

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.

Robert W. Taylor, A. F. Campese, L. Frontali, 2012, Human molecular genetics.

Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations

Robert W. Taylor, A. Fiorillo, V. Morea, 2015, Human molecular genetics.

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

Robert W. Taylor, L. Frontali, M. Zeviani, 2014, EMBO molecular medicine.

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Robert W. Taylor, R. Weleber, R. Wibom, 2012, European Journal of Human Genetics.

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy This article has been corrected since Advance Online Publication and a corrigendum is also printed in this issue

Robert W. Taylor, R. Weleber, R. Wibom, 2012 .

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

Robert W. Taylor, S. Mansour, G. Saretzki, 2010, Brain : a journal of neurology.

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation

Robert W. Taylor, D. Turnbull, R. Lightowlers, 2008, Nucleic acids research.

Biochemical assays of respiratory chain complex activity.

Robert W. Taylor, D. Turnbull, D. Thorburn, 2007, Methods in cell biology.

Nothomyrmecia macrops: A Living-Fossil Ant Rediscovered

Robert W. Taylor, Robert W. Taylor, 1978, Science.

The myrmicine ant genus Metapone Forel (Hymenoptera: Formicidae): a global taxonomic review with descriptions of twelve new species.

G. Alpert, Robert W. Taylor, 2016, Zootaxa.

Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2018, The Journal of pathology.

Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2010, Experimental Gerontology.

Age-associated mitochondrial DNA mutations lead to small but significant changes in cell proliferation and apoptosis in human colonic crypts

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2010, Aging cell.

ZMA, Taylor RW, Vila-Sanjurjo A. The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease. Mitochondrion 2015, 25, 17-27

Laura C. Greaves, Robert W. Taylor, R. Lightowlers, 2015 .

Detection of mitochondrial DNA variation in human cells.

Robert W. Taylor, D. Turnbull, K. J. Krishnan, 2010, Methods in molecular biology.

Ants of the genus Lordomyrma Emery (2) The Japanese L. azumai (Santschi) and six new species from India, Viet Nam and the Philippines (Hymenoptera: Formicidae: Myrmicinae)

Robert W. Taylor, Robert W. Taylor, 2012 .

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease

Robert W. Taylor, D. Turnbull, A. Schaefer, 2017, The Journal of clinical endocrinology and metabolism.

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

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

The epidemiology of mitochondrial disorders--past, present and future.

Robert W. Taylor, D. Turnbull, P. Chinnery, 2004, Biochimica et biophysica acta.

Pulmonary Artery Catheter Consensus Conference

Robert W. Taylor, Robert W. Taylor, 1998 .

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Katrien Stouffs, Melanie Bahlo, Holger Prokisch, 2016, American journal of human genetics.

Mitochondrial dysfunction in osteoarthritis is associated with down-regulation of superoxide dismutase 2.

Robert W. Taylor, T. von Zglinicki, S. Miwa, 2013, Arthritis and rheumatism.

A novel m.7539C>T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease

Robert W. Taylor, S. Zierz, P. Joshi, 2015, Neuromuscular Disorders.

Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation

Robert W. Taylor, M. Walker, D. Turnbull, 2004, Annals of neurology.

The molecular pathology of pathogenic mitochondrial tRNA variants

Robert W. Taylor, R. Mcfarland, Uwe Richter, 2021, FEBS letters.

Mitochondrial stress response triggered by defects in protein synthesis quality control

Robert W. Taylor, S. Seneca, T. Nyman, 2019, Life Science Alliance.

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

Robert W. Taylor, M. O'sullivan, C. McMahon, 2015, Human Genetics.

Mitochondrial dysfunction in myofibrillar myopathy

Robert W. Taylor, D. Turnbull, R. Barresi, 2016, Neuromuscular Disorders.

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

Robert W. Taylor, S. Cook, J. Ware, 2016, Cold Spring Harbor molecular case studies.

Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy

Robert W. Taylor, A. Torkamani, E. Ruiz-Pesini, 2018, Human molecular genetics.

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

Robert W. Taylor, J. Bourke, D. Turnbull, 2013, International journal of cardiology.

Genomic dispersion of 28S rDNA during karyotypic evolution in the ant genusMyrmecia (Formicidae)

Robert W. Taylor, H. Hirai, Masatoshi Yamamoto, 1996, Chromosoma.

Notes on the Remarkable Karyology of the Primitive Ant Nothomyrmecia Macrops, and of the Related Genus Myrmecia (Hymenoptera: Formicidae)

Robert W. Taylor, K. Ogata, M. Kubota, 1990 .

Experimental bases for the minimum interaction theory. I. Chromosome evolution in ants of the Myrmecia pilosula species complex (Hymenoptera: Formicidae: Myrmeciinae)

Robert W. Taylor, R. Crozier, H. Imai, 1994 .

Phase specific Ag-staining of nucleolar organizer regions (NORs) and kinetochores in the Australian ant Myrmecia croslandi

Robert W. Taylor, Y. Satta, T. Shiroishi, 1992 .

Red blood cell transfusions and nosocomial infections in critically ill patients*

Robert W. Taylor, S. Trottier, J. O’Brien, 2006, Critical care medicine.

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management

Robert W. Taylor, D. Turnbull, S. Rahman, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA

Robert W. Taylor, C. Gustafsson, M. Falkenberg, 2017, PLoS genetics.

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Robert W. Taylor, S. Dimauro, S. Marie, 2009, Brain : a journal of neurology.

Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

Robert W. Taylor, S. Ferdinandusse, H. Waterham, 2018, American journal of medical genetics. Part A.

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Robert W. Taylor, F. Tort, L. Waddell, 2019, Journal of inherited metabolic disease.

Epilepsy in adults with mitochondrial disease: A cohort study

Robert W. Taylor, N. Lax, D. Turnbull, 2015, Annals of neurology.

Cerebellar Ataxia in Patients With Mitochondrial DNA Disease: A Molecular Clinicopathological Study

Robert W. Taylor, N. Lax, D. Turnbull, 2012, Journal of neuropathology and experimental neurology.

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

Robert W. Taylor, R. Horvath, S. Heales, 2010, Neuromuscular Disorders.

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Robert W. Taylor, T. Wieland, I. Harting, 2016, Journal of Inherited Metabolic Disease.

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Robert W. Taylor, A. Munnich, H. Prokisch, 2015, Human molecular genetics.

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

Holger Prokisch, Robert W. Taylor, Langping He, 2019, American journal of human genetics.

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

Robert W. Taylor, H. Smeets, P. Bonnen, 2019, Annals of clinical and translational neurology.

Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

Robert W. Taylor, M. Santibanez-Koref, P. Chinnery, 2014, PLoS genetics.

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Robert W. Taylor, R. Boostani, T. Haaf, 2018, BMC Medical Genetics.

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

Robert W. Taylor, W. Chung, A. Borczuk, 2018, American journal of human genetics.

Recent Advances in Mitochondrial Disease.

Robert W. Taylor, D. Turnbull, C. Alston, 2017, Annual review of genomics and human genetics.

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

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

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

Robert W. Taylor, R. Rodenburg, R. Wevers, 2012, European journal of medical genetics.

Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0

Robert W. Taylor, M. Zamzami, J. Duley, 2011, BMC Research Notes.

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Robert W. Taylor, E. Lamantea, I. Wittig, 2020, EMBO molecular medicine.

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

Robert W. Taylor, R. Artuch, N. Darín, 2017, Annals of neurology.

Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2010, Investigative ophthalmology & visual science.

ANO10 mutations cause ataxia and coenzyme Q10 deficiency

Robert W. Taylor, P. Chinnery, Hanns Lochmüller, 2014, Journal of Neurology.

Forecasting stroke-like episodes and outcomes in mitochondrial disease

Robert W. Taylor, D. Erskine, N. Lax, 2021, Brain : a journal of neurology.

Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions

Robert W. Taylor, M. Kornhuber, A. Wienke, 2016, Neurology: Genetics.

SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions

Robert W. Taylor, M. Kornhuber, F. Hanisch, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia

Robert W. Taylor, D. Turnbull, A. Blamire, 2013, PloS one.

Mitochondrial DNA abnormalities in ophthalmological disease.

Robert W. Taylor, G. Gorman, Robert W. Taylor, 2011, Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society.

Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations.

Robert W. Taylor, F. Pichiorri, G. d’Amati, 2010, Archives of neurology.

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

Robert W. Taylor, N. Lax, D. Turnbull, 2012, Brain : a journal of neurology.

Adults with RRM 2 B-related mitochondrial disease have distinct clinical and molecular characteristics

Robert W. Taylor, D. Turnbull, U. Pohl, 2012 .

POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.

Robert W. Taylor, P. Chinnery, R. de Silva, 2008, Archives of neurology.

POLG 1 Mutations Manifesting as Autosomal Recessive Axonal Charcot-Marie-Tooth Disease

Robert W. Taylor, P. Chinnery, H. Houlden, 2007 .

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

Robert W. Taylor, D. Turnbull, J. Coxhead, 2014, Brain : a journal of neurology.

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

Robert W. Taylor, I. Bodi, R. Hadden, 2012, Neuromuscular Disorders.

POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.

Robert W. Taylor, P. Chinnery, P. Yu-Wai-Man, 2011, Biochimica et biophysica acta.

Clinical Diagnosis of Oxidative Phosphorylation Disorders

Robert W. Taylor, D. Turnbull, P. Chinnery, 2004 .

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Robert W. Taylor, E. Bertini, T. Meitinger, 2014, American journal of human genetics.

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

Robert W. Taylor, N. Kaya, B. Plecko, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

RRM2B-Related Mitochondrial Disease

Robert W. Taylor, D. Turnbull, R. Pitceathly, 2013 .

Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions

Robert W. Taylor, E. Larsson, C. Gustafsson, 2019, Nature Communications.

Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles.

Laura C. Greaves, Robert W. Taylor, D. Turnbull, 2010, Investigative ophthalmology & visual science.

Modelling mitochondrial DNA mutations in bacterial cytochrome c oxidase: Link to colon cancer?

Laura C. Greaves, D. Turnbull, J. Mathers, 2009, Proceedings of the National Academy of Sciences.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Arnold Munnich, Aleksandra Filipovska, Patrick F Chinnery, 2016, American journal of human genetics.

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Robert W. Taylor, W. Chung, H. Prokisch, 2017, Annals of neurology.

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Robert W. Taylor, M. Elstner, D. Turnbull, 2008, European Journal of Human Genetics.

Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease.

Robert W. Taylor, S. Zierz, H. Swalwell, 2006, Archives of neurology.

Mitochondrial Protein Inte raction Mapping Identifies Regulators of Respiratory Chain Function Graphical

Robert W. Taylor, M. Westphall, H. Prokisch, 2016 .

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

Robert W. Taylor, H. Dahl, A. Ohtake, 2004, The Journal of clinical investigation.

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure

Robert W. Taylor, S. Rahman, S. Santra, 2016, Journal of pediatric gastroenterology and nutrition.

Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis

Robert W. Taylor, D. Turnbull, M. Picard, 2016, Nucleic acids research.

Developmental and Pathological Changes in the Human Cardiac Muscle Mitochondrial DNA Organization, Replication and Copy Number

Robert W. Taylor, D. Turnbull, H. Jacobs, 2010, PloS one.

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy

Robert W. Taylor, D. Turnbull, K. Bushby, 2008, Neuromuscular Disorders.

Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions.

Robert W. Taylor, D. Turnbull, M. Barron, 2006, Brain : a journal of neurology.

Mitochondrial OXPHOS Biogenesis: Co-Regulation of Protein Synthesis, Import, and Assembly Pathways

Robert W. Taylor, K. Thompson, M. Oláhová, 2020, International journal of molecular sciences.

Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study

Robert W. Taylor, N. Lax, D. Turnbull, 2018, Brain pathology.

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review

Robert W. Taylor, R. Mcfarland, Y. Ng, 2016, Epilepsia.

NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS–SAYRE SYNDROME

Robert W. Taylor, I. Kozák, K. Abu-Amero, 2016, Retinal cases & brief reports.

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells.

Robert W. Taylor, D. Turnbull, R. Whittaker, 2010, Biochemical and biophysical research communications.

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Robert W. Taylor, Courtney E. French, A. Pagnamenta, 2018, American Journal of Human Genetics.

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Robert W. Taylor, H. Prokisch, P. Clayton, 2016, Journal of Medical Genetics.

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Robert W. Taylor, N. Lax, D. Turnbull, 2018, EBioMedicine.

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

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

Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach.

D. Turnbull, J. Elson, Robert W. Taylor, 2007, The Biochemical journal.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2015, Front. Genet..

Multiplication of 28S rDNA and NOR activity in chromosome evolution among ants of the Myrmecia pilosula species complex

Robert W. Taylor, Y. Satta, H. Hirai, 1994, Chromosoma.

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

Robert W. Taylor, D. Turnbull, R. Haller, 2008, Brain : a journal of neurology.

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

Robert W. Taylor, D. Turnbull, P. Chinnery, 2015, JAMA neurology.

Microangiopathy in the cerebellum of patients with mitochondrial DNA disease

Robert W. Taylor, N. Lax, D. Turnbull, 2012, Brain : a journal of neurology.

A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency

Robert W. Taylor, A. Norman, R. Mcfarland, 2019, Neuromuscular Disorders.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Robert W. Taylor, H. Prokisch, N. Hauser, 2015, Journal of Inherited Metabolic Disease.

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.

Central venous catheterization

Robert W. Taylor, Ashok V. Palagiri, A. Palagiri, 2007, Critical care medicine.

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

Robert W. Taylor, J. Casey, A. Vanderver, 2016, Journal of Medical Genetics.

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

Robert W. Taylor, D. Milford, N. Ragge, 2016, BMC Research Notes.

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

Robert W. Taylor, J. Casey, S. Ennis, 2015, JIMD reports.

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

Robert W. Taylor, D. Turnbull, A. Blamire, 2012, Heart.

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.

Robert W. Taylor, P. Chinnery, P. Yu-Wai-Man, 2010, Ophthalmology.

Induction of mitochondrial biogenesis is a maladaptive mechanism in mitochondrial cardiomyopathies.

Robert W. Taylor, A. Cossarizza, C. Nediani, 2007, Journal of the American College of Cardiology.

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.

Robert W. Taylor, N. Lax, D. Turnbull, 2013, Journal of neuropathology and experimental neurology.

Time course of normalisation of functional beta cell capacity in DiRECT after weight loss in type 2 diabetes

Benjamin S. Aribisala, Robert W. Taylor, N. Sattar, 2020 .

Probiotics: Prevention of Severe Pneumonia and Endotracheal Colonization Trial—PROSPECT: a pilot trial

Robert W. Taylor, M. Surette, M. Meade, 2016, Trials.

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.

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease

Robert W. Taylor, D. Turnbull, J. Elson, 2012, European Journal of Human Genetics.

Impact of allogenic packed red blood cell transfusion on nosocomial infection rates in the critically ill patient*

Robert W. Taylor, S. Trottier, J. O’Brien, 2002, Critical care medicine.

Association between inhaled nitric oxide treatment and long-term pulmonary function in survivors of acute respiratory distress syndrome

Robert W. Taylor, J. Zimmerman, G. Criner, 2012, Critical Care.

CARING FOR THE CRITICALLY ILL PATIENT Low-Dose Inhaled Nitric Oxide in Patients With Acute Lung Injury A Randomized Controlled Trial

Robert W. Taylor, J. Zimmerman, G. Criner, 2004 .

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.

Robert W. Taylor, D. Turnbull, Z. Chrzanowska-Lightowlers, 2003, Molecular genetics and metabolism.

Strategies for treating disorders of the mitochondrial genome.

Robert W. Taylor, D. Turnbull, R. Lightowlers, 2004, Biochimica et biophysica acta.

Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis.

Robert W. Taylor, D. Turnbull, F. Menzies, 2002, Brain : a journal of neurology.

Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy

Laura C. Greaves, Robert W. Taylor, F. Muntoni, 2014, The Journal of experimental medicine.

Gene therapy for the treatment of mitochondrial DNA disorders

Robert W. Taylor, Robert W. Taylor, 2005, Expert opinion on biological therapy.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

FBXL4 deficiency increases mitochondrial removal by autophagy

Robert W. Taylor, I. Atanassov, N. Larsson, 2020, EMBO molecular medicine.

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

J. A. Arranz, F. Tort, A. Ribes, 2016, Mitochondrion.

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Robert W. Taylor, H. Prokisch, A. Rötig, 2014, Orphanet Journal of Rare Diseases.

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

Robert W. Taylor, R. Lightowlers, M. Falkenberg, 2018, Human molecular genetics.

Central venous catheterization

A. Palagiri, Robert W. Taylor, 2007, Critical care medicine.

LONP1 and mtHSP70 cooperate to promote mitochondrial protein folding

Robert W. Taylor, Michael J. Sweredoski, A. Moradian, 2021, Nature communications.

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Robert W. Taylor, I. Hochberg, W. Newman, 2021, American journal of human genetics.

A novel histochemistry assay to assess and quantify focal cytochrome c oxidase deficiency

Laura C. Greaves, Robert W. Taylor, A. Mourier, 2018, The Journal of pathology.

Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue

N. Lax, A. Reeve, A. Grünewald, 2014, Journal of Neuroscience Methods.

The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent‐onset POLG‐related mitochondrial disease

Robert W. Taylor, D. Turnbull, V. Ramesh, 2018, Epilepsia open.

Prevalence and severity of voice and swallowing difficulties in mitochondrial disease.

Robert W. Taylor, D. Turnbull, R. Whittaker, 2012, International journal of language & communication disorders.

False-positive diagnosis of a single, large-scale mitochondrial DNA deletion by Southern blot analysis: the role of neutral polymorphisms.

Robert W. Taylor, A. Krasnianski, S. Zierz, 2004, Genetic testing.

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.

Three families with ‘de novo’ m.3243A > G mutation

Robert W. Taylor, R. Rodenburg, J. Smeitink, 2016, BBA clinical.

Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant

Robert W. Taylor, J. Poulton, S. Downes, 2017, British Journal of Ophthalmology.

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation

Robert W. Taylor, P. Chinnery, D. Samuels, 2006, Journal of Medical Genetics.

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

H. Prokisch, P. Clayton, I. Knerr, 2016, Journal of Medical Genetics.

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease

D. Turnbull, A. Schaefer, T. Cheetham, 2018, The Journal of clinical endocrinology and metabolism.

2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA

Iain G. Johnston, Robert W. Taylor, I. Johnston, 2021, Nature Communications.

Mitochondrial pathology in progressive cerebellar ataxia

Robert W. Taylor, P. Chinnery, R. Horvath, 2015, Cerebellum & Ataxias.

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

Robert W. Taylor, G. Elgar, D. Thorburn, 2016, PLoS genetics.

VARIABLES INFLUENCING COOPERATIVE ESCAPE AND AGGRESSIVE BEHAVIOR

R. Ulrich, Robert W. Taylor, A. Colasacco, 1969 .

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3

Robert W. Taylor, P. Chinnery, Hanns Lochmüller, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

This Work Is Licensed under a Creative Commons Attribution 3.0 Unported License Date Deposited: the Role of the Mitochondrial Ribosome in Human Disease: Searching for Mutations in 12s Mitochondrial Rrna with High Disruptive Potential

Laura C. Greaves, R. Rodenburg, R. Lightowlers, 2022 .

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations

J. Elson, C. Alston, R. Mcfarland, 2011, Human mutation.

A novel point mutation in the mitochondrial tRNATrp gene produces a neurogastrointestinal syndrome

Robert W. Taylor, Margaret A. Johnson, D. Turnbull, 2004, European Journal of Human Genetics.

Evidence for the Absence of Worker Behavioral Subcastes in the Sociobiologically Primitive Australian Ant Nothomyrmecia macrops Clark (Hymenoptera: Formicidae: Myrmeciinae)

Robert W. Taylor, Robert W. Taylor, 2014 .

Induction of mitochondrial biogenesis is a maladaptive mechanism in mitochondrial cardiomyopathies.

A. Cossarizza, C. Nediani, V. Petrozza, 2007, Journal of the American College of Cardiology.

Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants

Robert W. Taylor, M. Elstner, D. Turnbull, 2006, Nucleic acids research.

Triplex real-time PCR–an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells

D. Turnbull, J. Grady, H. Tuppen, 2015, Scientific Reports.

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

J. Casey, S. Ennis, M. King, 2015, JIMD reports.

Hodgkin's disease involving the large bowel.

S. Proctor, M. Curtis, R. Evans, 1988, Clinical radiology.

Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions

Robert W. Taylor, D. Turnbull, R. Haller, 2018, Annals of neurology.

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

D. Turnbull, M. Martikainen, D. Burn, 2016, JAMA neurology.

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

Robert W. Taylor, D. Turnbull, T. Harrower, 2005, European Journal of Human Genetics.

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 .

Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain

Robert W. Taylor, D. Turnbull, M. Coulthard, 1995, Pediatric Nephrology.

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease

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

Changes in the human mitochondrial genome after treatment of malignant disease.

Robert W. Taylor, D. Turnbull, A. Craft, 2003, Mutation research.

A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance

Robert W. Taylor, L. Bindoff, T. Halvorsen, 2008, Neuromuscular Disorders.

Molecular cloning and biological characterization of novel antimicrobial peptides, pilosulin 3 and pilosulin 4, from a species of the Australian ant genus Myrmecia.

Robert W. Taylor, H. Inagaki, T. Kubo, 2004, Archives of biochemistry and biophysics.

Mitochondrial DNA Transcription: Regulating the Power Supply

Robert W. Taylor, D. Turnbull, Robert W. Taylor, 2007, Cell.

Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle

Robert W. Taylor, D. Turnbull, R. Haller, 2014, PloS one.

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.

Effects of MitoQ and Sod2 on Rates of Retinal Degeneration in Rd1, Atrd1, Rho–/– and Rds Mutant Mice

D. Turnbull, B. Tulloch, D. Vlachantoni, 2006 .

Temporal and spatial variation in population structure of the African baobab (adansonia digitata) in the Kruger National Park, South Africa

Robert W. Taylor, Robert W. Taylor, 2016 .

Exaggerated Status of

Robert W. Taylor, H. Bandelt, A. Salas, 2009 .

Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy

Robert W. Taylor, S. Zierz, P. Joshi, 2015, European Journal of Human Genetics.

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis

Robert W. Taylor, D. Turnbull, P. Chinnery, 2004, Neuromuscular Disorders.

Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

Robert W. Taylor, V. Ramesh, M. Santibanez-Koref, 2015, Journal of neuromuscular diseases.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Y. Okazaki, H. Williams, M. Dattani, 2018, American journal of human genetics.

Loss of myelin-associated glycoprotein in kearns-sayre syndrome.

Robert W. Taylor, S. Dimauro, N. Lax, 2012, Archives of neurology.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Robert W. Taylor, T. Strom, H. Prokisch, 2018, JAMA neurology.

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.

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.

A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells.

Robert W. Taylor, D. Turnbull, K. J. Krishnan, 2007, Analytical biochemistry.

Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome

Robert W. Taylor, J. Elson, F. H. van der Westhuizen, 2017, BMC Medical Genetics.

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Robert W. Taylor, H. Hakonarson, Yiran Guo, 2018, Brain : a journal of neurology.

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

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

The m.3291T>C mt-tRNALeu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease

Robert W. Taylor, D. Turnbull, C. Alston, 2013, Journal of Neurological Sciences.

A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations

Robert W. Taylor, J. Elson, R. Mcfarland, 2012, Mitochondrion.

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

B. Moore, P. Chinnery, P. Yu-Wai-Man, 2016, Brain : a journal of neurology.

Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion

Robert W. Taylor, G. Gorman, I. Hargreaves, 2020, JIMD reports.

Chromosomal polymorphisms involving telomere fusion, centromeric inactivation and centromere shift in the ant Myrmecia (pilosula) n=1

Robert W. Taylor, H. Imai, Robert W. Taylor, 1989, Chromosoma.

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

Robert W. Taylor, K. Bushby, I. Horrocks, 2013, Acta Neuropathologica.

A Fossil Ant Colony: New Evidence of Social Antiquity

Robert W. Taylor, E. Wilson, Robert W. Taylor, 1964 .

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene

Robert W. Taylor, Margaret A. Johnson, D. Turnbull, 2004, Neuromuscular Disorders.

Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity.

R. de Silva, L. Kartsounis, D. O’Donovan, 2010, Archives of neurology.

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

C. Borchers, V. Ramesh, P. Chinnery, 2017, Genetics in Medicine.

Foraging ecology of the night-active bull ant Myrmecia pyriformis

Robert W. Taylor, J. Zeil, A. Narendra, 2013, Australian Journal of Zoology.

Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy

Robert W. Taylor, Y. Crow, T. Roscioli, 2019, Neuropediatrics.

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

Robert W. Taylor, P. Chinnery, R. Lightowlers, 2015, Journal of neuromuscular diseases.

The effect of red blood cell transfusion on tissue oxygenation and microcirculation in severe septic patients

F. Sadaka, E. Armbrecht, R. Aggu-Sher, 2011, Annals of intensive care.