Publications by Professor Robert Taylor - ePrints

Browsing publications by Professor Robert Taylor.

Newcastle Authors	Title	Year
Professor Robert Taylor	A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4	2024
Professor Robert Taylor	Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders	2024
Professor Robert Taylor	Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease	2024
Dr Angela Pyle Dr Fiona Robertson Professor Robert Taylor Professor Bobby McFarland	Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion	2024
Professor Bobby McFarland Professor Robert Taylor Krutik Patel Dr Mahmoud Fassad	Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study	2024
Professor Grainne Gorman Professor Robert Taylor	Conformational fingerprinting with Raman spectroscopy reveals protein structure as a translational biomarker of muscle pathology	2024
Professor Robert Taylor Professor Bobby McFarland Dr Anita Devlin	De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke	2024
Dr Sally Johnson Professor David Kavanagh Professor John Sayer Dr Edwin Wong Megan Bates et al.	Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort	2024
Dr Ana Topf Daniel Cox Dr Valeria Di Leo Professor Chiara Marini Bettolo Professor Jordi Diaz Manera et al.	Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy	2024
Dr Sarah Pickett Professor Robert Taylor Professor Bobby McFarland	Fit for purpose: Selecting the best mitochondrial DNA for the job	2024
Professor Robert Taylor	Genetic landscape of pediatric acute liver failure of indeterminate origin	2024
Dr Krutik Patel Professor Bobby McFarland Professor Robert Taylor	Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country	2024
Yasmin Tang Dr Angela Pyle Dr Monika Olahova Professor Robert Taylor	Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease	2024
Lucie Taylor Dr Albert Lim Professor Bobby McFarland Professor Matthias Trost Dr Charlotte Alston et al.	Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease	2024
Professor Robert Taylor	Rare disease genomic testing in the UK and Ireland: Promoting timely and equitable access	2024
Professor Robert Taylor	Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation	2024
Dr Charlotte Alston Professor Robert Taylor	Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease	2024
Professor Robert Taylor	Understanding the cause of type 2 diabetes	2024
Dr Laura Alexandra Smith Dr Chun Chen Dr Nichola Lax Professor Robert Taylor Dr Daniel Erskine et al.	Astrocytic pathology in Alpers’ syndrome	2023
Dr Kyle Thompson Dr Langping He Professor Zofia Chrzanowska-Lightowlers Professor Robert Taylor	Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease	2023
Professor Robert Taylor	Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder	2023
Professor Robert Taylor	FBXL4 suppresses mitophagy by restricting the accumulation of NIX and BNIP3 mitophagy receptors	2023
Eleni Mavraki Dr Charlotte Alston Charlotte Knowles Jack Baines Professor Robert Taylor et al.	Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines	2023
Dr Dasha Deen Dr Charlotte Alston Professor Gavin Hudson Professor Robert Taylor Dr Angela Pyle et al.	Genomic Strategies in Mitochondrial Diagnostics	2023
Professor Robert Taylor	Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants	2023
Dr Kyle Thompson Professor Robert Taylor	Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease	2023
Dr Monika Olahova Professor Robert Taylor	Mitochondrial signalling and homeostasis: from cell biology to neurological disease	2023
Dr William Macken Dr Mahmoud Fassad Dr Fei Gao Krutik Patel Dr Ana Topf et al.	Neuromuscular disease genetics in under-represented populations: increasing data diversity	2023
Dr Kyle Thompson Dr Monika Olahova Dr Langping He Dr Thomas McCorvie Professor Wyatt Yue et al.	Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54	2023
Dr Mahmoud Fassad Dr Katja Menger Sila Hopton Gavin Falkous Professor Bobby McFarland et al.	Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability	2023
Professor Robert Taylor	Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness	2023
Dr Monika Olahova Professor Robert Taylor	A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families	2022
Dr Alaa Abouhajar Dr Lisa Alcock Dr Theophile Bigirumurame Penny Bradley Laura Brown et al.	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	2022
Ahmad Alahmad Dr Angela Pyle Professor Bobby McFarland Professor Robert Taylor	Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement	2022
Dr Kyle Thompson Professor Bobby McFarland Professor Robert Taylor	Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease	2022
Dr Andrew Schaefer Kate Craig Sila Hopton Gavin Falkous Professor Robert Taylor et al.	Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy	2022
Dr Charlotte Alston Rui Ban Professor Robert Taylor	Clinical implementation of RNA sequencing for Mendelian disease diagnostics	2022
Dr Angela Pyle Professor Robert Taylor	Defining mitochondrial protein functions through deep multiomic profiling	2022
Dr Laura Alexandra Smith Dr Daniel Erskine Dr Alasdair Blain Professor Robert Taylor Professor Bobby McFarland et al.	Delineating selective vulnerability of inhibitory interneurons Alpers' syndrome.	2022
Dr Kyle Thompson Benjamin Munro Dr Daria Diodato Professor Rita Horvath Professor Robert Taylor et al.	Elucidating the molecular mechanisms associated with TARS₂-related mitochondrial disease	2022
Dr Yi Ng Dr Nichola Lax Dr Alasdair Blain Dr Daniel Erskine Professor Mark Baker et al.	Forecasting stroke-like episodes and outcomes in mitochondrial disease	2022
Ahmad Alahmad Professor Robert Taylor Professor Bobby McFarland	Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency	2022
Dr Amy Vincent Julie Faitg Professor Robert Taylor	Mosaic dysfunction of mitophagy in mitochondrial muscle disease	2022
Dr Albert Lim Dr Yi Ng Dr Alasdair Blain Dr Cecilia Jimenez Moreno Dr Charlotte Alston et al.	Natural History of Leigh Syndrome: A Study of Disease Burden and Progression	2022
Professor Grainne Gorman Professor Robert Taylor	Non-negative matrix factorisation of Raman spectra finds common patterns relating to neuromuscular disease across differing equipment configurations, preclinical models and human tissue	2022
Dr Uwe Richter Professor Robert Taylor	Nonstop mRNAs generate a ground state of mitochondrial gene expression noise	2022
Dr Jack Collier Dr Oliver Russell Dr Charlotte Alston Professor Bobby McFarland Professor Robert Taylor et al.	Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms	2022
Professor Robert Taylor	Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders	2022
Dr Kyle Thompson Professor Robert Taylor	Phenotypic continuum of NFU1-related disorders	2022
Ewen Sommerville Professor Patrick Chinnery Professor Grainne Gorman Professor Robert Taylor	RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis	2022
Professor Grainne Gorman Professor Robert Taylor	The application of Raman spectroscopy to the diagnosis of mitochondrial muscle disease: A preliminary comparison between fibre optic probe and microscope formats	2022
Dr Monika Olahova Dr Ewen Sommerville Dr Jack Collier Professor Grainne Gorman Professor Robert Taylor et al.	POLRMT mutations impair mitochondrial transcription causing neurological disease	2021
Professor Grainne Gorman Professor Rita Horvath Dr Richard Quinton Dr Andrew Schaefer Dr Patrick Yu Wai Man et al.	100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report	2021
Professor Bobby McFarland Professor Robert Taylor	2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA	2021
Jack Collier Dr Monika Olahova Professor Robert Taylor	ATG7 safeguards human neural integrity	2021
Dr Kyle Thompson Professor Wyatt Yue Professor Robert Taylor	Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations	2021
Jack Collier Dr Monika Olahova Dr Nuria Martinez Lopez Dr Tuomo Polvikoski Dr Andrew Schaefer et al.	Developmental consequences of defective Atg7-mediated autophagy in humans	2021
Dr Jack Collier Dr Monika Olahova Professor Robert Taylor	Emerging roles of ATG7 in human health and disease	2021
Yasmin Tang Dr Angela Pyle Professor Robert Taylor Dr Monika Olahova	Interrogating mitochondrial biology and disease using CRISPR/Cas9 gene editing	2021
Professor Robert Taylor	LONP1 and mtHSP70 cooperate to promote mitochondrial protein folding	2021
Jack Collier Professor Robert Taylor	Machine learning algorithms reveal the secrets of mitochondrial dynamics	2021
Dr Yi Ng Professor Laurence Bindoff Professor Grainne Gorman Professor Bobby McFarland Professor Robert Taylor et al.	Mitochondrial disease in adults: recent advances and future promise	2021
Professor Bobby McFarland Professor Robert Taylor	The Effect of tRNA^[Ser]Sec Isopentenylation on Selenoprotein Expression	2021
Dr Charlotte Alston Professor Gavin Hudson Professor Robert Taylor	The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines	2021
Dr Uwe Richter Professor Bobby McFarland Professor Robert Taylor Dr Sarah Pickett	The molecular pathology of pathogenic mitochondrial tRNA variants	2021
Dr Langping He Professor Robert Taylor	Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease	2021
Professor Robert Taylor	A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency	2020
Dr Albert Lim Dr Grace McMacken Francesca Rastelli Dr Monika Olahova Karen Baty et al.	A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features	2020
Anna Smith Dr Julia Whitehall Carla Bradshaw Dr Fiona Robertson Dr Alasdair Blain et al.	Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis	2020
Professor Robert Taylor	Albinism and a mitochondrial DNA deletion	2020
Dr Amy Vincent Emeritus Professor Doug Turnbull Professor Robert Taylor	Assessment of mitochondrial respiratory chain enzymes in cells and tissues	2020
Dr Francesco Bruni Dr Langping He Professor Robert Taylor Professor Zofia Chrzanowska-Lightowlers	Biallelic Mutations in MTPAP Associated with a Lethal Encephalophy	2020
Ahmad Alahmad Dr Kyle Thompson Dr Monika Olahova Dr Langping He Dr Charlotte Alston et al.	Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I	2020
Dr Charlotte Warren Dr David McDonald Professor David Deehan Professor Robert Taylor Professor Andrew Filby et al.	Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry	2020
Dr Charlotte Alston Marie Appleton Dr Yi Ng Professor Grainne Gorman Professor Bobby McFarland et al.	Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion	2020
Professor Robert Taylor	FBXL4 deficiency increases mitochondrial removal by autophagy	2020
Dr Daniel Erskine Dr Amy Reeve Dr Tuomo Polvikoski Dr Andrew Schaefer Professor Robert Taylor et al.	Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls	2020
Dr Hannah Steele Dr Angela Pyle Sila Hopton Jane Newman Dr Renae Stefanetti et al.	Metabolic effects of bezafibrate in mitochondrial disease.	2020
Dr Joanna Elson Professor Robert Taylor	Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed–Sternberg cells	2020
Professor Robert Taylor Professor Michael Hanna Dr Robert Pitceathly	Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA^Gly(MT-TG) variant	2020
Dr Yi Ng Dr Kyle Thompson Daniela Loher Sila Hopton Gavin Falkous et al.	Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency	2020
Dr Charlotte Alston Lucie Taylor Dr Langping He Sila Hopton Professor Bobby McFarland et al.	Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency	2020
Karen Baty Sila Hopton Dr Isabell Cordts Gavin Falkous Professor Robert Taylor et al.	Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNA^Pro) gene variant	2020
Dr Kyle Thompson Jack Collier Ruth Glasgow Dr Fiona Robertson Dr Angela Pyle et al.	Recent advances in understanding the molecular genetic basis of mitochondrial disease	2020
Professor Robert Taylor	Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism	2020
Professor Bobby McFarland Professor Robert Taylor	SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey	2020
Professor Alison Yarnall Dr Antoneta Granic Sammy Waite Dr Kieren Hollingsworth Dr Charlotte Warren et al.	The feasibility of muscle mitochondrial respiratory chain phenotyping across the cognitive spectrum in Parkinson’s disease	2020
Millie Fullerton Professor Bobby McFarland Professor Robert Taylor Dr Charlotte Alston	The genetic basis of isolated mitochondrial complex II deficiency	2020
Dr Charlotte Alston Professor Bobby McFarland Professor Robert Taylor	The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant	2020
Dr Ewen Sommerville Professor Robert Taylor	The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency	2020
Dr Charlotte Alston Professor Grainne Gorman Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging	2020
Catherine Feeney Dr Albert Lim Dr Alasdair Blain Alexandra Bright Professor Robert Taylor et al.	A case‐comparison study of pregnant women with mitochondrial disease – what to expect?	2019
Steven Hardy Sila Hopton Gavin Falkous Professor Robert Taylor	A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy	2019
Dr Albert Lim Karen Baty Dr Langping He Sila Hopton Gavin Falkous et al.	A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes	2019
Charlotte Zierz Karen Baty Sila Hopton Gavin Falkous Dr Andrew Schaefer et al.	A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia	2019
Dr Heather Moore Dr Thomas Kelly Alexandra Bright Dr Andrew Schaefer Dr Alasdair Blain et al.	Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: Importance of correcting for baseline intellectual ability	2019
Sunitha Balaraju Dr Ana Topf Dr Grace McMacken Professor Robert Taylor Professor Rita Horvath et al.	Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant	2019
Professor Bobby McFarland Professor Robert Taylor	Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions	2019
Dr Veronika Boczonadi Dr Monika Olahova Dr Boglárka Bánsági Dr Andreas Roos Dr Vankateswara Ramesh et al.	Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease (Genetics in Medicine, (2018), 20, 10, (1224-1235), 10.1038/gim.2017.251)	2019
Dr Hannah Hayhurst Maria Anagnostou Helen Bogle Dr John Grady Professor Robert Taylor et al.	Dissecting the neuronal vulnerability underpinning Alpers' syndrome: A clinical and neuropathological study	2019
Dr Rachel Boal Dr Yi Ng Dr Sarah Pickett Dr Andrew Schaefer Catherine Feeney et al.	Height as a clinical biomarker of disease burden in adult mitochondrial disease	2019
Dr Ewen Sommerville Dr Francesco Bruni Dr Kyle Thompson Dr Mariana Rocha Dr Langping He et al.	Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance	2019
Dr Ewen Sommerville Dr Monika Olahova Dr Angela Pyle Dr Langping He Professor Bobby McFarland et al.	Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy	2019
Gavin Falkous Professor Robert Taylor	ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy	2019
Dr Hannah Hayhurst Charlotte Alston Dr Kyle Thompson Dr Langping He Sila Hopton et al.	Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis	2019
Dr Sarah Pickett Dr Alasdair Blain Dr Yi Ng Dr Ian Wilson Professor Robert Taylor et al.	Mitochondrial donation - Which women could benefit?	2019
Professor Robert Taylor	Mitochondrial stress response triggered by defects in protein synthesis quality control	2019
Dr Monika Olahova Jack Collier Dr Charlotte Alston Dr Noel Edwards Dr Langping He et al.	Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease	2019
Ahmad Alahmad Haya AL-Balool Dr Charlotte Alston Professor Rita Horvath Professor Robert Taylor et al.	Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing	2019
Dr Angela Pyle Professor Robert Taylor	NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses	2019
Dr Luis Braz Dr Yi Ng Professor Grainne Gorman Professor Bobby McFarland Professor Robert Taylor et al.	Neuromuscular junction abnormalities in mitochondrial disease; an observational cohort study	2019
Ruth Glasgow Dr Steven Hardy Gavin Falkous Dr Langping He Professor Robert Taylor et al.	Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement	2019
Dr Yi Ng Dr Mika Martikainen Professor Grainne Gorman Dr Alasdair Blain Dr Andrew Schaefer et al.	Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study	2019
Dr Amy Vincent Dr Kathryn White Tracey Davey Jonathan Phillips Dr Conor Lawless et al.	Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network	2019
Roisin Boggan Dr Albert Lim Professor Robert Taylor Professor Bobby McFarland Dr Sarah Pickett et al.	Resolving complexity in mitochondrial disease: Towards precision medicine	2019
Dr Diana Lehmann Dr Helen Tuppen Georgia Campbell Charlotte Alston Dr Conor Lawless et al.	Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level	2019
Dr Yi Ng Dr Nichola Lax Dr Charlotte Alston Philippa Hepplewhite Professor Patrick Chinnery et al.	MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load	2018
Dr Kyle Thompson Dr Monika Olahova Dr Filippo Scialo Dr Nichola Lax Dr Fiona Robertson et al.	OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect	2018
Professor Laura Greaves Professor Robert Taylor Dr Jim Stewart	A novel histochemistry assay to assess and quantify focal cytochrome c oxidase deficiency	2018
Dr Langping He Professor Robert Taylor	A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency	2018
Dr Kyle Thompson Dr Langping He Professor Robert Taylor	A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways	2018
Dr Monika Olahova Dr Kyle Thompson Professor Bobby McFarland Professor Robert Taylor	Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder	2018
Dr Charlotte Alston Lucie Taylor Ruth Glasgow Professor Bobby McFarland Professor Robert Taylor et al.	Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency	2018
Dr Kyle Thompson Professor Robert Taylor	Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism	2018
Dr Monika Olahova Dr Charlotte Alston Professor Robert Taylor	Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-Translational Function	2018
Dr Francesco Bruni Professor Bobby McFarland Professor Zofia Chrzanowska-Lightowlers Dr Langping He Professor Robert Taylor et al.	Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease	2018
Dr Charlotte Alston Professor Robert Taylor	Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?	2018
Dr Charlotte Alston Professor Robert Taylor	Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency	2018
Dr Francesco Bruni Dr Kyle Thompson Dr Langping He Dr Arjan De Brouwer Professor Robert Taylor et al.	Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)	2018
Christie Waddington Ewen Sommerville Sila Hopton Dr Angela Pyle Professor Zofia Chrzanowska-Lightowlers et al.	Defective mitochondrial protease LonP1 can cause classical mitochondrial disease	2018
Dr Mariana Rocha Dr Steven Hardy Dr Amy Vincent Professor Robert Taylor	Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant	2018
Dr Kyle Thompson Ahmad Alahmad Dr Langping He Professor Robert Taylor	Expanding the clinical phenotype of IARS2-related mitochondrial disease	2018
Dr Kyle Thompson Sila Hopton Dr Langping He Professor Robert Taylor	Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy	2018
Professor Robert Taylor	Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases	2018
Tianhong Su Dr John Grady Sorena Afshar Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations	2018
Dr Charlotte Alston Dr Ki Pang Professor Bobby McFarland Professor Robert Taylor	Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion	2018
Rizwan Nisar Dr Peter Hanson Dr Paul Keane Dr Langping He Professor Robert Taylor et al.	Manganese-Containing Thiocarbamates Cause Free Radical Production and Caspase-Independent Cell Death following Mitochondrial Dysfunction in Neural Cells	2018
Dr Veronika Boczonadi Dr Monika Olahova Dr Boglarka Bansagi Dr Andreas Roos Dr Vankateswara Ramesh et al.	Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease	2018
Dr John Grady Dr Sarah Pickett Dr Yi Ng Catherine Feeney Dr Andrew Schaefer et al.	mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease	2018
Dr Kyle Thompson Professor Bobby McFarland Professor Robert Taylor	Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy	2018
Dr Kyle Thompson Frances White Steven Hardy Professor Robert Taylor	Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults	2018
Professor Robert Taylor	New observations regarding the retinopathy of genetically confirmed Kearns-Sayre syndrome	2018
Dr Mariana Rocha Hannah Rosa Dr John Grady Dr Langping He Jane Newman et al.	Pathological mechanisms underlying single large-scale mitochondrial DNA deletions	2018
Dr Sarah Pickett Dr John Grady Dr Yi Ng Professor Grainne Gorman Dr Andrew Schaefer et al.	Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors	2018
Dr Oliver Russell Pavandeep Rai Dr Amy Reeve Dr Karolina Rygiel Professor Majlinda Lako et al.	Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo	2018
Professor Robert Taylor Professor Bobby McFarland Professor Grainne Gorman Dr Ewen Sommerville Professor Patrick Chinnery et al.	Retrospective natural history of thymidine kinase 2 deficiency	2018
Dr Julie Murphy Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Grainne Gorman Professor Bobby McFarland et al.	Scientific and Ethical Issues in Mitochondrial Donation	2018
Sila Hopton Gavin Falkous Dr Fiona Norwood Professor Grainne Gorman Professor Robert Taylor et al.	Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene	2018
Sasiharan Sithamparanathan Dr Mariana Rocha Dr Jehill Parikh Karolina Rygiel Gavin Falkous et al.	Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study	2018
Dr Amy Vincent Hannah Rosa Kamil Pabis Dr Conor Lawless Dr Chun Chen et al.	Subcellular origin of mitochondrial DNA deletions in human skeletal muscle	2018
Dr Yi Ng Dr Henriette van Ruiten Dr Vankateswara Ramesh Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	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	2018
Professor Rita Horvath Professor Bobby McFarland Professor Robert Taylor	The genotypic and phenotypic spectrum of MTO1 deficiency	2018
Dr Thomas Nicholls Dr Ewen Sommerville Professor Grainne Gorman Emeritus Professor Doug Turnbull Professor Patrick Chinnery et al.	Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA	2018
Dr Monika Olahova Dr Kyle Thompson Dr Charlotte Alston Professor Patrick Chinnery Professor Zofia Chrzanowska-Lightowlers et al.	Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies	2017
Dr Diana Lehmann Dr Steven Hardy Gavin Falkous Charlotte Knowles Rachel Phelps et al.	Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls	2017
Dr Ewen Sommerville Dr Yi Ng Dr Charlotte Alston Dr Langping He Charlotte Knowles et al.	Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy	2017
Charlotte Hemingbrough Professor Fai Ng Professor Robert Taylor Emerita Professor Julia Newton Dr Joanna Elson et al.	Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome	2017
Ewen Sommerville Dr Charlotte Alston Dr Angela Pyle Dr Langping He Gavin Falkous et al.	De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities	2017
Dr Charlotte Alston Charlotte Knowles Professor Robert Taylor Professor Bobby McFarland	De novo mtDNA point mutations are common and have a low recurrence risk	2017
Dr Mika Martikainen Dr John Grady Dr Yi Ng Dr Charlotte Alston Professor Grainne Gorman et al.	Decreased male reproductive success in association with mitochondrial dysfunction	2017
Dr Yi Ng Professor Robert Taylor Dr Andrew Schaefer	Diabetes Mellitus in Mitochondrial Disease	2017
Professor Robert Taylor	Genetic diagnosis of Mendelian disorders via RNA sequencing	2017
Professor Robert Taylor	MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase	2017
Dr Mohammad Moad Laura Wilson Rob Pickard Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Multipotent Basal Stem Cells, Maintained in Localized Proximal Niches, Support Directed Long-Ranging Epithelial Flows in Human Prostates	2017
Professor Robert Taylor	Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy	2017
Ruth Glasgow Dr Kyle Thompson Dr Langping He Dr Charlotte Alston Professor Bobby McFarland et al.	Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits	2017
Dr Yi Ng Emeritus Professor Doug Turnbull Professor Robert Taylor	Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia	2017
Professor Robert Taylor	Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA	2017
Dr Ewen Sommerville Rachel Phelps Dr Steven Hardy Dr Angela Pyle Dr Andrew Schaefer et al.	Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia	2017
Dr Monika Olahova Dr Kyle Thompson Dr Steven Hardy Maria-Eleni Anagnostou Dr Kathryn White et al.	Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria	2017
Dr Charlotte Alston Professor Robert Taylor	Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions	2017
Dr Steven Hardy Dr Emma Watson Sila Hopton Professor Robert Taylor	Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant	2017
Dr Emma Watson Dr Langping He Professor Robert Taylor	POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism	2017
Professor Robert Taylor Dr Arjan De Brouwer	Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases	2017
Dr Charlotte Alston Professor Robert Taylor Emeritus Professor Doug Turnbull	Recent Advances in Mitochondrial Disease	2017
Dr Charlotte Alston Dr Mariana Rocha Dr Nichola Lax Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	The genetics and pathology of mitochondrial disease	2017
Professor Robert Taylor Professor Bobby McFarland	Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors	2017
Syeda Ahmed Charlotte Alston Sila Hopton Dr Langping He Gavin Falkous et al.	Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency	2017
Dr Charlotte Alston Professor Robert Taylor	A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis	2016
Dr Charlotte Alston Dr Monika Olahova Dr Steven Hardy Dr Langping He Professor Robert Taylor et al.	A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype	2016
Dr Charlotte Alston Dr Monika Olahova Dr John Yarham Dr Langping He Professor Robert Taylor et al.	Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype	2016
Professor Robert Taylor Emeritus Professor Doug Turnbull	Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency	2016
Dr Yi Ng Steven Hardy Professor Robert Taylor	Clinical features of the pathogenic m.5540G > A mitochondrial transfer RNA tryptophan gene mutation	2016
Mika Martikainen Dr Yi Ng Professor Grainne Gorman Dr Charlotte Alston Dr Andrew Schaefer et al.	Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease	2016
Professor Robert Taylor	Clinical, molecular, radiological investigations in patients with SURF1 mutations and muscle biopsy findings	2016
Dr Amy Vincent Hannah Rosa Dr Karolina Rygiel Dr John Grady Dr Mariana Rocha et al.	Clonal expansion of mtDNA deletions in skeletal muscle: new insights into mechanisms	2016
Dr Karolina Rygiel Dr Helen Tuppen Dr John Grady Dr Amy Vincent Dr Amy Reeve et al.	Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis	2016
Dr Langping He Professor Bobby McFarland Professor Robert Taylor	Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: A case report	2016
Dr Charlotte Alston Professor Robert Taylor	Cystic Leukoencephalopathy due to NDUFV1 mutation – A Report of the Phenotype and Its Rare Co-occurrence with Primary Hyperoxaluria	2016
Dr Amy Vincent Hannah Rosa Dr Charlotte Alston Dr John Grady Dr Karolina Rygiel et al.	Dysferlin mutations and mitochondrial dysfunction	2016
Maria Anagnostou Dr Yi Ng Professor Robert Taylor Professor Bobby McFarland	Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review	2016
Padraig Flannery Dr Florence Burte Professor Robert Taylor Professor Laurence Bindoff Dr Patrick Yu Wai Man et al.	Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation	2016
Professor Robert Taylor	Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: Phenotypes linked by truncating variants in NDUFB11	2016
Dr David Lewis-Smith Dr Helen Griffin Dr Jennifer Duff Dr Angela Pyle Professor Robert Taylor et al.	Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood	2016
Dr Langping He Dr Matt Bates Professor Robert Taylor	Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure	2016
Professor Bobby McFarland Professor Robert Taylor	Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure	2016
Alexia Chrysostomou Dr John Grady Dr Alex Laude Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease	2016
Dr Ian Wilson Pip Carling Dr Charlotte Alston Vasileios Floros Dr Angela Pyle et al.	Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck	2016
Dr Amy Vincent Dr John Grady Dr Mariana Rocha Dr Charlotte Alston Dr Karolina Rygiel et al.	Mitochondrial dysfunction in myofibrillar myopathy	2016
Dr Charlotte Alston Professor Robert Taylor	Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function	2016
Professor Robert Taylor	MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria	2016
Dr Steven Hardy Dr Andrew Purvis Dr Mariana Rocha Syeda Ahmed Gavin Falkous et al.	Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy	2016
Dr Charlotte Alston Professor Robert Taylor	Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families	2016
Dr Yi Ng Catherine Feeney Dr Andrew Schaefer Paula Hynd Dr Charlotte Alston et al.	Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination	2016
Dr Kyle Thompson Dr Charlotte Alston Dr Langping He Dr Angela Pyle Dr Helen Griffin et al.	Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies	2016
Professor Robert Taylor	Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts	2016
Dr Kyle Thompson Dr Charlotte Alston Dr Langping He Professor Bobby McFarland Professor Robert Taylor et al.	Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number	2016
Professor Robert Taylor	Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3	2016
Dr Helen Tuppen Professor Robert Taylor	Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations	2016
Professor Bobby McFarland Professor Robert Taylor	Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients	2016
Dr Yi Ng Dr John Grady Dr Nichola Lax Dr John Bourke Dr Charlotte Alston et al.	Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults	2016
Dr Charlotte Alston Professor Bobby McFarland Professor Robert Taylor	Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2	2016
Dr Yi Ng Dr Charlotte Alston Dr Daria Diodato Professor Robert Taylor Professor Bobby McFarland et al.	The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease	2016
Dr Peter Kullar Professor Robert Taylor Dr Charlotte Alston Dr Emma Watson Professor Patrick Chinnery et al.	The frequency of the m.1555A > G (MTRNR1) variant in UK patients with suspected mitochondrial deafness	2016
Dr Yi Ng Dr Patrick Yu Wai Man Professor Robert Taylor	The m.13051G > A mitochondrial DNA mutation results in variable neurology and activated mitophagy	2016
Dr Amy Vincent Dr Yi Ng Dr Kathryn White Tracey Davey Gavin Falkous et al.	The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy	2016
Dr Hannah Steele Professor Rita Horvath Professor Robert Taylor	The swinging pendulum of biomarkers in mitochondrial disease: the role of FGF21	2016
Dr Charlotte Alston Professor Robert Taylor	Three families with 'de novo' m.3243A > G mutation	2016
Dr Monika Olahova Dr Steven Hardy Dr John Yarham William Wilson Dr Charlotte Alston et al.	LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population	2015
Dr Joanna Rorbach Dr Charlotte Alston Dr Helen Griffin Dr Angela Pyle Professor Patrick Chinnery et al.	TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies	2015
Dr Michael Keogh Daniyal Daud Dr Angela Pyle Dr Jennifer Duff Dr Helen Griffin et al.	A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism	2015
Dr Mariana Rocha Dr John Grady Dr Anne Grunewald Dr Amy Vincent Dr Philip Dobson et al.	A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis	2015
Dr Diana Lehmann Karen Baty Professor Robert Taylor	A novel m.7539C > T point mutation in the mt-tRNA^Asp gene associated with multisystemic mitochondrial disease	2015
Dr Helen Tuppen Professor Robert Taylor	A novel mitochondrial DNA m.7507A > G mutation is only pathogenic at high levels of heteroplasmy	2015
Dr Charlotte Alston Dr Monika Olahova Dr Langping He Professor Bobby McFarland Professor Robert Taylor et al.	A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency	2015
Dr Monika Olahova Dr Charlotte Alston Jess Houghton Dr Langping He Dr Andrew Morris et al.	A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency	2015
Dr Francesco Bruni Professor Bobby McFarland Professor Robert Taylor	ABAT is a novel human mitochondrial DNA depletion syndrome gene linking gamma-aminobutyric acid (GABA) catabolism and mitochondrial nucleoside metabolism	2015
Maria Wesolowska Professor Grainne Gorman Dr Charlotte Alston Aleksandra Pajak Dr Angela Pyle et al.	Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease	2015
Dr Marilyn Clarke Dr Vanessa Hogan Dr Deborah Buck Dr Jing Shen Christine Powell et al.	An external pilot study to test the feasibility of a randomised controlled trial comparing eye muscle surgery against active monitoring for childhood intermittent exotropia [X(T)]	2015
Professor Robert Taylor	Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy	2015
Dr Brendan Payne Kris Gardner Professor Rita Horvath Professor Robert Taylor Professor Patrick Chinnery et al.	Clinical and Pathological Features of Mitochondrial DNA Deletion Disease Following Antiretroviral Treatment	2015
Dr Steven Hardy Professor Robert Taylor	Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency	2015
Professor Robert Taylor Professor Bobby McFarland	Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations	2015
Professor Grainne Gorman Dr Gerald Pfeffer Dr Helen Griffin Dr Marzena Kurzawa-Akanbi Jessica Gabriel et al.	Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28	2015
Professor Robert Taylor	Complex I assembly function and fatty acid oxidation enzyme activity of ACAD₉ both contribute to disease severity in ACAD₉ deficiency	2015
Dr Kyle Thompson Dr Steven Hardy Dr Langping He Professor Bobby McFarland Professor Robert Taylor et al.	Corrigendum to "Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations" [Front. Genet., 6 (2015) 102] DOI:10.3389/fgene.2015.00102	2015
Rizwan Nisar Dr Peter Hanson Dr Langping He Professor Robert Taylor Professor Peter Blain et al.	Diquat causes caspase-independent cell death in SH-SY₅Y cells by production of ROS independently of mitochondria	2015
Professor Roger Whittaker Professor Grainne Gorman Dr Andrew Schaefer Professor Rita Horvath Dr Yi Ng et al.	Epilepsy in Adults With Mitochondrial Disease: A Cohort Study	2015
Dr Kyle Thompson Dr Steven Hardy Dr Langping He Professor Bobby McFarland Professor Robert Taylor et al.	Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations	2015
Professor Grainne Gorman Dr John Grady Dr Yi Ng Dr Andrew Schaefer Dr Richard McNally et al.	Mitochondrial Donation: How Many Women Could Benefit?	2015
Professor Robert Lightowlers Professor Robert Taylor Emeritus Professor Doug Turnbull	Mutations causing mitochondrial disease: What is new and what challenges remain?	2015
Dr Nichola Lax Dr Langping He Gavin Falkous Professor Bobby McFarland Professor Robert Taylor et al.	Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations	2015
Professor Grainne Gorman Dr Hue Hornig - Do Dr Helen Tuppen Professor Laura Greaves Dr Langping He et al.	Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression	2015
Dr Diana Lehmann Dr Steven Hardy Dr Helen Tuppen Karen Baty Professor Robert Taylor et al.	Pathogenic mitochondrial mt-tRNA^Ala variants are uniquely associated with isolated myopathy	2015
Jane Newman Dr Brook Galna Professor Djordje Jakovljevic Dr Andrew Schaefer Professor Bobby McFarland et al.	Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease	2015
Professor Grainne Gorman Dr Andrew Schaefer Dr Yi Ng Dr Charlotte Alston Catherine Feeney et al.	Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease	2015
Dr Charlotte Alston Professor Robert Taylor	SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions	2015
Dr Helen Griffin Professor Rita Horvath Professor Robert Taylor Professor Patrick Chinnery	Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation	2015
Dr Francesco Bruni Professor Bobby McFarland Professor Robert Taylor	The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism	2015
Professor Robert Taylor	The investigation and management of metabolic myopathies	2015
Dr Joanna Elson Dr Paul Smith Professor Laura Greaves Professor Robert Lightowlers Professor Zofia Chrzanowska-Lightowlers et al.	The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease	2015
Dr Charlotte Alston Dr Robert Pitceathly Professor Bobby McFarland Dr Andrew Schaefer Emeritus Professor Doug Turnbull et al.	The urinary proteome and metabonome differ from normal in adults with mitochondrial disease	2015
Dr Karolina Rygiel Dr John Grady Professor Robert Taylor Dr Helen Tuppen Emeritus Professor Doug Turnbull et al.	Triple real-time PCR - an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells	2015
Dr Veronika Boczonadi Dr Angela Pyle Dr Boglarka Bansagi Marie Appleton Professor Hanns Lochmuller et al.	ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency	2014
Dr Yi Ng Dr Charlotte Alston Professor Rita Horvath Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	A genetic weakness - Phoenician legacy or Celtic heritage?	2014
Dr Victoria Nesbitt Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Bobby McFarland et al.	A national perspective on prenatal testing for rnitochondrial disease	2014
Dr John Grady Dr Julie Murphy Professor Robert Taylor Emeritus Professor Doug Turnbull Dr Helen Tuppen et al.	Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle	2014
Dr Helen Griffin Dr Angela Pyle Dr Charlotte Alston Dr Jennifer Duff Professor Gavin Hudson et al.	Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations	2014
Dr Ewen Sommerville Professor Patrick Chinnery Professor Grainne Gorman Professor Robert Taylor	Adult-onset Mendelian PEO Associated with Mitochondrial Disease	2014
Professor Laura Greaves Professor Robert Taylor	Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy	2014
Kate Craig Anna Butterworth Dr Langping He Professor Robert Taylor	Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure	2014
Anna Butterworth Kate Craig Professor Robert Taylor	Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene	2014
Professor Laura Greaves Marco Nooteboom Dr Joanna Elson Dr Helen Tuppen Geoffrey Taylor et al.	Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing	2014
Dr John Yarham Dr Angela Pyle Dr Francesco Bruni Dr Langping He Dr Helen Griffin et al.	Defective i⁶A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and its Substrate tRNA	2014
Dr John Grady Georgia Campbell Gavin Falkous Dr Victoria Nesbitt Dr Andrew Schaefer et al.	Disease progression in patients with single, large-scale mitochondrial DNA deletions	2014
Georgia Campbell Kim Krishnan Professor Robert Taylor Emeritus Professor Doug Turnbull	Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle	2014
Dr Charlotte Alston Gavin Falkous Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Grainne Gorman et al.	Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation	2014
Dr Stuart Williamson Laura Wilson Graeme Williamson Professor Laura Greaves Dr Helen Tuppen et al.	Finding a niche. The location of human prostate stem cells	2014
Dr Karolina Rygiel Dr James Miller Dr John Grady Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Mitochondrial and inflammatory changes in sporadic inclusion body myositis	2014
Abdulraheem Almalki Dr Charlotte Alston Dr Mojgan Reza Professor Robert Lightowlers Professor Bobby McFarland et al.	Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency	2014
Dr Steven Hardy Professor Robert Taylor	Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency	2014
Dr Joanna Rorbach Professor Robert Taylor Ewen Sommerville Dr Angela Pyle Professor Patrick Chinnery et al.	Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy	2014
Dr Gerald Pfeffer Professor Grainne Gorman Dr Helen Griffin Dr Marzena Kurzawa-Akanbi Dr Ian Wilson et al.	Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance	2014
Dr Charlotte Alston Emeritus Professor Doug Turnbull Dr Jane Stewart Professor Bobby McFarland Professor Robert Taylor et al.	PGD to prevent mitochondrial disease: embryological aspects	2014
Dr Lyndsey Butterworth Dr Laura Irving Dr Charlotte Alston Dr Emma Watson Professor Bobby McFarland et al.	Preimplantation genetic diagnosis for mitochondrial DNA disease	2014
Professor Robert Taylor	Preventing the transmission of mitochondrial DNA disease	2014
Dr Anne Grunewald Dr Nichola Lax Dr Amy Reeve Philippa Hepplewhite Karolina Rygiel et al.	Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue	2014
Professor Patrick Chinnery Professor Robert Taylor	Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients	2014
Dr Yi Ng Dr Nichola Lax Dr Andrew Schaefer Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Sudden Unexpected Death in Adults with M.3243A>G Mutation	2014
Dr Arianna Montanari Dr Helen Tuppen Professor Robert Taylor	The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells	2014
Professor Robert Taylor Dr Angela Pyle Dr Helen Griffin Dr Jennifer Duff Dr Langping He et al.	Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies	2014
Dr Emma Watson Professor Robert Taylor	MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast	2013
Professor Grainne Gorman Dr Robert Pitceathly Emeritus Professor Doug Turnbull Professor Robert Taylor	RRM2B-Related Mitochondrial Disease	2013
Professor Robert Taylor Dr Langping He Professor Patrick Chinnery	A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders	2013
Dr Helen Tuppen Dr Langping He Professor Robert Taylor	Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features	2013
Philip Griffiths Dr Fiona Smith Dr Michael Firbank Professor Grainne Gorman Professor Robert Taylor et al.	Chronic progressive external ophthalmoplegia - Disease mechanisms and clinical outcome measures	2013
Professor Robert Taylor	Clinical and biochemical features associated with BCS1L mutation	2013
Dr Matthew Bates Dr Kieren Hollingsworth Jane Newman Professor Djordje Jakovljevic Professor Andrew Blamire et al.	Concentric hypertrophic remodeling and subendocardial dysfunction in mitochondrial DNA point mutation carriers	2013
Dr Matthew Bates Jane Newman Professor Djordje Jakovljevic Dr Kieren Hollingsworth Professor Andrew Blamire et al.	Defining cardiac adaptations and safety of endurance training in patients with m.3243A>g-related mitochondrial disease	2013
Dr Nichola Lax Dr Charlotte Alston Dr Tuomo Polvikoski Dr Evelyn Jaros Dr John Yarham et al.	Early-Onset Cataracts, Spastic Paraparesis, and Ataxia Caused by a Novel Mitochondrial tRNA(Glu) (MT-TE) Gene Mutation Causing Severe Complex I Deficiency: A Clinical, Molecular, and Neuropathologic Study	2013
Dr Joanna Rorbach Professor Robert Taylor	ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy	2013
Dr Andrew Schaefer Professor Mark Walker Emeritus Professor Doug Turnbull Professor Robert Taylor	Endocrine disorders in mitochondrial disease	2013
Dr Cynthia Yu Wai Man Dr Fiona Smith Dr Michael Firbank Professor Grainne Gorman Professor Robert Taylor et al.	Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia	2013
Professor Robert Taylor	Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations	2013
Professor Roger Whittaker Professor Robert Taylor Emeritus Professor Doug Turnbull	Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease	2013
Dr Joanna Elson Mark Cadogan Professor Roger Whittaker Professor Mike Trenell Professor Rita Horvath et al.	Initial development and validation of a mitochondrial disease quality of life scale	2013
Dr John Yarham Professor Robert Taylor	Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects	2013
Dr Charlotte Alston Dr Andrew Schaefer Kim Krishnan Dr Langping He Kate Craig et al.	Late-Onset Respiratory Failure Due to Tk2 Mutations Causing Multiple MtDNA Deletions	2013
Graham Campbell Dr Amy Reeve Dr Iryna Ziabreva Dr Tuomo Polvikoski Professor Robert Taylor et al.	Mitochondrial DNA deletions and depletion within paraspinal muscles	2013
Sally Spendiff Dr Mojgan Reza Dr Julie Murphy Professor Grainne Gorman Professor Robert Taylor et al.	Mitochondrial DNA deletions in muscle satellite cells: implications for therapies	2013
Christos Gavriilidis Dr Satomi Miwa Professor Thomas von Zglinicki Professor Robert Taylor Professor David Young et al.	Mitochondrial dysfunction in osteoarthritis is associated with down-regulation of superoxide dismutase 2	2013
Dr John Yarham Dr Eve Cosgrave Dr Satomi Miwa Professor Bobby McFarland Professor Robert Taylor et al.	Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance	2013
Professor Rita Horvath Dr Charlotte Alston Dr Patrick Yu Wai Man Dr Langping He Professor Robert Taylor et al.	Near-Identical Segregation of mtDNA Heteroplasmy in Blood, Muscle, Urinary Epithelium, and Hair Follicles in Twins With Optic Atrophy, Ptosis, and Intractable Epilepsy	2013
Helen Bogle Dr Nichola Lax Dr Evelyn Jaros Professor Bobby McFarland Professor Robert Taylor et al.	Neuropathological changes in Alpers' syndrome	2013
Dr John Yarham Dr Charlotte Alston Kate Craig Dr Kirstie Anderson Emeritus Professor Doug Turnbull et al.	Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease	2013
Dr Liesbeth De Waele Dr Michelle Eagle Dr Richard Charlton Dr Langping He Dr Emma Watson et al.	Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities	2013
Professor Bobby McFarland Dr Andrew Morris Professor Robert Taylor	SURF1 deficiency: a multi-centre natural history study	2013
Dr John Yarham Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	The m.3291T > C mt-tRNA^Leu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease	2013
Dr Paul Smith Dr Joanna Elson Professor Laura Greaves Professor Robert Lightowlers Professor Zofia Chrzanowska-Lightowlers et al.	The role of the mitochondrial ribosome in human disease: Searching for mutations in 12S mitochondrial rRNA with high disruptive potential	2013
Dr Victoria Nesbitt Dr Robert Pitceathly Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Bobby McFarland et al.	The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management	2013
Anna Butterworth Dr Langping He Professor Bobby McFarland Professor Robert Taylor	MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle	2012
Dr Kamil Sitarz Professor Rita Horvath Dr Angela Pyle Professor Robert Taylor Professor Patrick Chinnery et al.	OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy	2012
Emeritus Professor Doug Turnbull Professor Robert Taylor	A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase gamma subunits	2012
Dr John Yarham Professor Bobby McFarland Professor Robert Taylor Dr Joanna Elson	A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations	2012
Dr John Yarham Dr Joanna Elson Professor Robert Taylor Professor Bobby McFarland	A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations	2012
Professor Rita Horvath Dr Angela Pyle Professor Grainne Gorman Professor Hanns Lochmuller Professor Robert Taylor et al.	Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3	2012
Dr Angela Pyle Dr Adam Hassani Professor Robert Taylor Professor Patrick Chinnery	Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene	2012
Dr Gerald Pfeffer Dr Charlotte Alston Dr Adam Hassani Professor Rita Horvath Professor David Samuels et al.	Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations	2012
Dr Charlotte Alston Dr Langping He Kate Craig Dr Andrew Schaefer Professor Bobby McFarland et al.	Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics	2012
Dr Matthew Bates Dr John Bourke Emeritus Professor Doug Turnbull Professor Robert Taylor	Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management	2012
Dr Kieren Hollingsworth Professor Grainne Gorman Professor Mike Trenell Professor Bobby McFarland Professor Robert Taylor et al.	Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load	2012
Dr Nichola Lax Philippa Hepplewhite Dr Amy Reeve Dr Victoria Nesbitt Professor Bobby McFarland et al.	Cerebellar Ataxia in Patients With Mitochondrial DNA Disease: A Molecular Clinicopathological Study	2012
Thiloka Ratnaike Dr Julie Murphy Professor Robert Taylor Emeritus Professor Doug Turnbull	Changes in mitochondrial function over time and with exercise in patients with mitochondrial disease	2012
Professor Robert Taylor Dr Joanna Elson Emeritus Professor Doug Turnbull Professor Francois van der Westhuizen	Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease	2012
Professor Laura Greaves Dr Joanna Elson Dr John Grady Geoffrey Taylor Professor Robert Taylor et al.	Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations	2012
Dr Matt Bates Dr Kieren Hollingsworth Jane Newman Professor Djordje Jakovljevic Professor Bernard Keavney et al.	Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers	2012
Dr Julie Murphy Gavin Falkous Dr Charlotte Alston Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy	2012
Dr Patrick Yu Wai Man Professor Grainne Gorman Professor Robert Taylor Emeritus Professor Doug Turnbull	Diagnostic investigations of patients with chronic progressive external ophthalmoplegia	2012
Kim Krishnan Dr Glyn Nelson Dr Julie Murphy Professor Rita Horvath Professor Hanns Lochmuller et al.	DNM2 mutations cause multiple mtDNA deletions in muscle: A novel disorder of mtDNA maintenance	2012
Dr Matt Bates Dr Kieren Hollingsworth Jane Newman Professor Djordje Jakovljevic Professor Andrew Blamire et al.	Evidence of early cardiac impairment in m.3243A > G mutation carriers	2012
Dr Charlotte Alston Professor Rita Horvath Professor Michael Hanna Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease	2012
Professor Robert Taylor	Hyperfractionated accelerated radiotherapy (HART) with chemotherapy for M 1-3 medulloblastoma (MB) - A children's cancer and leukaemia group (CCLG)/National Cancer Research Network (NCRN) Study	2012
Dr Helen Tuppen Dr Arianna Montanari Martina Leopizzi Professor Robert Taylor	Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T > C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy	2012
Professor Robert Taylor	Late onset Muscle Mitochondrial Disease due to a p.R357P Twinkle mutation in an Irish family	2012
Dr John Blackwood Professor Laura Greaves Laura Wilson Rob Pickard Professor Majlinda Lako et al.	Lineage tracking in situ: Where are the prostate stem cells? What are they doing?	2012
Dr Julie Murphy Thiloka Ratnaike Ersong Shang Gavin Falkous Dr Charlotte Alston et al.	Long term endurance training and deconditioning in patients with mitochondrial myopathy	2012
Dr Nichola Lax Graham Campbell Dr Amy Reeve Jessica Zambonin Professor Robert Taylor et al.	Loss of Myelin-Associated Glycoprotein in Kearns-Sayre Syndrome	2012
Dr Nichola Lax Dr Ilse Pienaar Dr Amy Reeve Philippa Hepplewhite Dr Evelyn Jaros et al.	Microangiopathy in the cerebellum of patients with mitochondrial DNA disease	2012
Professor Laura Greaves Dr Amy Reeve Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial DNA and disease	2012
Graham Campbell Kim Krishnan Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial DNA deletions do not have a replicative advantage in human muscle	2012
Professor Robert Taylor	Mitochondrial DNA depletion syndromes - a 5 year audit of molecular genetic diagnoses	2012
Professor Robert Taylor	Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?	2012
Christos Gavriilidis Professor Robert Taylor Professor David Young	Mitochondrial dysfunction and oxidative damage in osteoarthritis	2012
Dr Matt Bates Dr Victoria Nesbitt Dr Langping He Dr Charlotte Alston Dr Malcolm Brodlie et al.	Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: A prospective study	2012
Anna Butterworth Dr Langping He Professor Bobby McFarland Professor Robert Taylor	MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle	2012
Dr Helen Tuppen John Yarham Professor Robert Taylor Professor Bobby McFarland	Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy	2012
Smatanova Borras Dayne Bromley Philip Scully Dr Jonathan Coxhead Dr Ann Curtis et al.	'Noonan Spectrum Test' - comprehensive screening for RASopathies	2012
Dr Charlotte Alston Dr Langping He Gavin Falkous Professor Bobby McFarland Professor Robert Taylor et al.	Novel SDHA and SDHB mutations as a cause of isolated mitochondria! complex II deficiency	2012
Professor Roger Whittaker Emeritus Professor Nick Miller Sue Clark Professor Robert Taylor Professor Bobby McFarland et al.	Prevalence and severity of speech and swallowing difficulties in mitochondrial disease	2012
Dr Charlotte Alston Dr Hue Hornig - Do Professor Bobby McFarland Professor Robert Taylor	Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency	2012
Dr Patrick Yu Wai Man Professor Robert Taylor Professor Patrick Chinnery	Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations	2012
Dr Julie Murphy Jane Newman Thiloka Ratnaike Gavin Falkous Dr Charlotte Alston et al.	Resistance training in patients with mitochondrial myopathy	2012
Dr Nichola Lax Professor Roger Whittaker Philippa Hepplewhite Dr Amy Reeve Dr Evelyn Jaros et al.	Sensory neuronopathy in patients harbouring recessive polymerase γ mutations	2012
Dr Charlotte Alston Dr Andrew Schaefer Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Grainne Gorman et al.	The c.48G > A variant in the mitochondrial DNA maintenance gene, RRM2B, causes adult-onset autosomal dominant PEO via aberrant splicing	2012
Dr Victoria Nesbitt Dr Charlotte Alston Professor Bobby McFarland Professor Robert Taylor	The clinical spectrum of the m.10191T > C mutation in complex I-deficient Leigh syndrome	2012
Dr Joanna Elson Dr John Yarham Professor Francois van der Westhuizen Dr Robert Pitceathly Professor Robert Taylor et al.	Towards a mtDNA locus-specific mutation database using the LOVD platform	2012
Dr Brendan Payne Dr Ian Wilson Dr Patrick Yu Wai Man Dr Jonathan Coxhead Professor David Deehan et al.	Universal heteroplasmy of human mitochondrial DNA	2012
Vivienne Neeve Professor Hanns Lochmuller Professor Gavin Hudson Professor Grainne Gorman Emeritus Professor Doug Turnbull et al.	What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?	2012
Professor Michael Hanna Professor Robert Taylor Andy Duncan	Whole Exome Sequencing Reveals that Subunit Mutations are Prevalent in Complex I Deficient Leigh Syndrome	2012
Dr John Blackwood Dr Stuart Williamson Professor Laura Greaves Laura Wilson Dr Anastasia Hepburn et al.	In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells	2011
John Yarham Dr Charlotte Alston Professor Robert Taylor Dr Joanna Elson Professor Bobby McFarland et al.	A Comparative Analysis Approach to Determining the Pathogenicity of Mitochondrial tRNA Mutations	2011
Dr Victoria Nesbitt Professor Kim Bartlett Professor Robert Taylor Professor Bobby McFarland	Congenital lactic acidosis and mitochondrial disease - when to suspect and how to manage	2011
Dr Andrew Schaefer Professor Patrick Chinnery Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Grainne Gorman et al.	Dominant and recessive RRM2B mutations cause familial PEO and multiple mtDNA deletions in muscle	2011
Professor Robert Taylor Emeritus Professor Doug Turnbull	Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration	2011
Dr Julie Murphy Ersong Shang Professor Robert Taylor Emeritus Professor Doug Turnbull	Exercise training in patients with mitochondrial myopathy: the analysis of COX-intermediate fibres	2011
Dr Charlotte Alston Dr Andrew Morris Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	Maternally inherited mitochondrial DNA disease in consanguineous families	2011
Dr Karolina Rygiel Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial abnormalities in inclusion body myositis	2011
Rebecca Say Professor Roger Whittaker Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Mitochondrial disease in pregnancy: a systematic review	2011
Anna Butterworth Dr Andrew Morris Professor Robert Taylor	Mitochondrial DNA depletion syndrome due to mutations in the MPV17 gene	2011
Sally Spendiff Professor Rita Horvath Professor Hanns Lochmuller Dr Mojgan Reza Dr Julie Murphy et al.	Mitochondrial DNA mutations in satellite cells	2011
Dr Victoria Nesbitt Professor Roger Whittaker Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	mtDNA disease for the neurologist	2011
Professor Peter Thelwall Professor Robert Taylor Emerita Professor Sally Marshall	Non-invasive Investigation of Kidney Disease in Type 1 Diabetes by Magnetic Resonance Imaging	2011
Dr Angela Pyle Vivienne Neeve Dr Helen Tuppen Professor Hanns Lochmuller Professor Bobby McFarland et al.	Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency	2011
Joanna Stewart Kamil Sitarz Professor Rita Horvath Dr Angela Pyle Dr Patrick Yu Wai Man et al.	POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts	2011
Dr Kate Hallsworth Dr Gulnar Fattakhova Dr Kieren Hollingsworth Dr Christian Thoma Sarah Moore et al.	Resistance exercise improves liver lipid, fat oxidation and glucose control in adults with non-alchoholic fatty liver disease independent of weight loss	2011
Professor Robert Taylor Dr Helen Swalwell Dr Denise Kirby Emeritus Professor Doug Turnbull Professor Bobby McFarland et al.	Respiratory chain complex I deficiency caused by mitochondrial DNA mutations	2011
Dr Helen Swalwell Dr Denise Kirby Dr Anna Mitchell Emeritus Professor Doug Turnbull Professor Bobby McFarland et al.	Respiratory chain complex I deficiency caused by mitochondrial DNA mutations	2011
Dr Andrew Schaefer Professor Patrick Chinnery Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Grainne Gorman et al.	RRM2B mutations are frequent in familial peo with multiple mtDNA deletions	2011
Professor Bobby McFarland Professor Robert Taylor	The relationship between the pyruvate dehydrogenase complex and the mitochondrial respiratory chain	2011
Dr Sergey Savelev Dr John Perry Dr Stephen Bourke Professor Robert Taylor Professor Andrew Fisher et al.	Volatile biomarkers of Pseudomonas aeruginosa in cystic fibrosis and non cystic fibrosis bronchiectasis	2011
Thiloka Ratnaike Kim Krishnan Professor Robert Taylor Emeritus Professor Doug Turnbull	Why does mitochondrial disease progress? From molecular genetics to patient phenotype	2011
Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	A neurological perspective on mitochondrial disease	2010
Dr Charlotte Alston Professor Rita Horvath Professor Robert Taylor	A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy	2010
Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Robert Taylor	A novel mitochondrial tRNA gene mutation causing PEO present at very low levels in skeletal muscle: implications for molecular diagnosis	2010
Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Robert Taylor	A novel mitochondrial tRNA(Glu) (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle	2010
Marco Nooteboom Professor Robert Taylor Professor Robert Lightowlers Emeritus Professor Thomas Kirkwood Professor John Mathers et al.	Age-associated mitochondrial DNA mutations lead to small but significant changes in cell proliferation and apoptosis in human colonic crypts	2010
Dr John Yarham Dr Joanna Elson Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Bobby McFarland et al.	Assigning pathogenicity to mitochondrial tRNA gene mutations	2010
Professor Laura Greaves Dr Martin Barron Dr Stefan Plusa Emeritus Professor Thomas Kirkwood Professor John Mathers et al.	Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts	2010
Professor Laura Greaves Dr Martin Barron Dr Stefan Plusa Emeritus Professor Thomas Kirkwood Professor John Mathers et al.	Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts	2010
Professor Robert Taylor Emeritus Professor Doug Turnbull	Developmental and Pathological Changes in the Human Cardiac Muscle Mitochondrial DNA Organization, Replication and Copy Number	2010
Dr Vanessa Hogan Dr Langping He Professor Zofia Chrzanowska-Lightowlers Professor Robert Taylor	Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy	2010
Professor Djordje Jakovljevic Lida Papakonstantinou Professor Robert Taylor Dr Guy MacGowan Professor Mike Trenell et al.	Every day physical activity protects against the age related decline in aerobic function but not cardiac pumping capability in normoglycemic women	2010
Professor Rita Horvath Dr Julie Murphy Professor Robert Taylor Dr Mojgan Reza Professor Hanns Lochmuller et al.	Finding the missing gap - mitochondrial DNA deletions in muscle stem cells	2010
Jessica Zambonin Dr Sarah Engeham Graham Campbell Dr Iryna Ziabreva Nina Beadle et al.	Identification and investigation of mitochondria lacking cytochrome c oxidase activity in axons	2010
Professor Rita Horvath Dr Helen Tuppen Professor Gavin Hudson Dr Angela Pyle Dr Paul Smith et al.	Infantile reversible COX deficiency myopathy caused by the m.14674T > C mutation in mt-tRNA(Glu) in a German family	2010
Professor Robert Taylor	Isolated Distal Myopathy of the Upper Limbs Associated With Mitochondrial DNA Depletion and Polymerase gamma Mutations	2010
Dr Helen Tuppen Professor Bobby McFarland Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation	2010
Dr Helen Tuppen Professor Bobby McFarland Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation	2010
Professor Laura Greaves Dr Patrick Yu Wai Man Kim Krishnan Nina Beadle Dr Martin Barron et al.	Mitochondrial DNA Defects and Selective Extraocular Muscle Involvement in CPEO	2010
Dr Helen Tuppen Emeritus Professor Doug Turnbull Professor Robert Taylor	Mitochondrial DNA mutations and human disease	2010
Dr Helen Swalwell Emeritus Professor Doug Turnbull Professor Robert Taylor	Mitochondrial Transfer RNA(Phe) Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia- Rigidity	2010
Dr John Yarham Dr Joanna Elson Professor Bobby McFarland Professor Robert Taylor	Mitochondrial tRNA mutations and disease	2010
Dr Patrick Yu Wai Man Philip Griffiths Professor Grainne Gorman Professor Roger Whittaker Professor Mark Baker et al.	Multi-system neurological disease is common in patients with OPA1 mutations	2010
Professor Bobby McFarland Professor Rita Horvath Professor Robert Taylor	Next generation genetic diagnosis of metabolic disorders	2010
Professor Robert Taylor	Novel mitrochondrial trna mutation associated with migraine, pigmentary retinopathy, leukoencephalopathy and sensorineural deafness	2010
Dr Lyndsey Butterworth Dr Helen Tuppen Gareth Greggains Dr Julie Murphy Dr Lynsey Cree et al.	Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease	2010
Professor Robert Taylor	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation	2010
Dr Patrick Yu Wai Man Dr Gillian Borthwick Dr Langping He Geoffrey Taylor Professor Laura Greaves et al.	Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles	2010
Jenny Scott Professor Robert Taylor Professor David Young	Superoxide dismutase 2 downregulation and mitochondria respiration in osteoarthritis	2010
Jenny Scott Christos Gavriilidis Emeritus Professor Thomas Kirkwood Professor Robert Taylor Professor David Young et al.	Superoxide dismutase downregulation in osteoarthritis progression and end-stage disease	2010
Professor Grainne Gorman Joanna Stewart Dr Mark Buddles Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO	2010
Dr John Blackwood Professor Roger Whittaker Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells	2010
Professor Robert Taylor Dr Charlotte Alston	The m.3291 T > C mtDNA mutation causes Ekbom's syndrome: expanding the clinical and genetic phenotype	2010
Dr Helen Tuppen Dr Vanessa Hogan Dr Langping He Dr Mazhor Aldosary Dr Gabriele Saretzki et al.	The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families	2010
Dr Charlotte Alston Professor Bobby McFarland Professor Rita Horvath Professor Robert Taylor	The pathogenic m.3243A > T mitochondrial DNA mutation is associated with a variable neurological phenotype	2010
Dr Patrick Yu Wai Man Philip Griffiths Dr Ailbhe Burke Michael Clarke Professor Gavin Hudson et al.	The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations	2010
Vivienne Neeve Professor Gavin Hudson Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Patrick Chinnery et al.	What modifies the clinical presentation of the common homozygous p.A467T POLG mutation?	2010
Dr Nimantha De Alwis Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Laura Greaves Professor Patrick Chinnery et al.	A Methodological Approach to Tracing Cell Lineage in Human Epithelial Tissues	2009
Dr Helen Swalwell Emeritus Professor Doug Turnbull Professor Robert Taylor	A New Mitochondrial Transfer RNA(Pro) Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features	2009
Dr Charlotte Alston Professor Rita Horvath Professor Robert Taylor	A novel heteroplasmic mitochondrial MT-ND5 frameshift mutation causing isolated paediatric complex I deficiency	2009
Professor Robert Taylor	A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: A case report	2009
Dr Evelyn Jaros Emeritus Professor Robert Perry Dr Amy Reeve Dr Andrew Schaefer Professor Robert Taylor et al.	Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions	2009
Professor Grainne Gorman Joanna Stewart Dr Mark Buddles Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients	2009
Emeritus Professor Doug Turnbull Professor Robert Taylor	Bilateral hypertrophic olivary degeneration on MRI in two patients with POLG1 mutations	2009
Professor Grainne Gorman Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Clinical Reasoning: Blurred vision and dancing feet Restless legs syndrome presenting in mitochondrial disease	2009
Professor Robert Taylor	Exaggerated status of novel and pathogenic mtDNA sequence variants due to inadequate database searches	2009
Dr Hazel Powell Martina Leopizzi Professor Robert Taylor	Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations	2009
Dr Petter Sanaker Professor Zofia Chrzanowska-Lightowlers Dr Vanessa Hogan Professor Robert Taylor	G.P.11.01: RNA processing differences explain tissue specificity in exercise intolerance myopathy due to ISCU intronic mutation	2009
Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Laura Greaves Professor Patrick Chinnery	Locating the Stem Cell Niche and Tracing Hepatocyte Lineages in Human Liver	2009
Professor Robert Taylor	Mitogen-Activated Protein Kinases and Regulation of Mitochondrial Biogenesis in Human Cardiomyopathies	2009
Professor Robert Taylor	Mitogen-Activated Protein Kinases and Regulation of Mitochondrial Biogenesis in Human Cardiomyopathies	2009
Professor Laura Greaves Professor John Mathers Professor Robert Taylor Emeritus Professor Doug Turnbull	Modelling mitochondrial DNA mutations in bacterial cytochrome c oxidase: Link to colon cancer?	2009
Professor Rita Horvath Dr Helen Tuppen Professor Gavin Hudson Dr Angela Pyle Dr Paul Smith et al.	Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy	2009
Dr Mazhor Aldosary Professor Roger Whittaker Professor Bobby McFarland Professor Judith Goodship Emeritus Professor Doug Turnbull et al.	Neuromuscular disease presentation with three genetic defects involving two genomes	2009
Dr Mazhor Aldosary Professor Roger Whittaker Professor Bobby McFarland Professor Judith Goodship Emeritus Professor Doug Turnbull et al.	Neuromuscular disease presentation with three genetic defects involving two genomes: The characterisation of a novel mitochondrial tRNA mutation exhibiting skewed segregation	2009
Dr Joanna Elson Dr Helen Swalwell Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Pathogenic mitochondrial tRNA mutations - which mutations are inherited and why?	2009
Dr Mark Buddles Emeritus Professor Doug Turnbull Professor Robert Taylor	Phenotypic Diversiry Associated with the Mitochondrial m.8313G > A Point Mutation	2009
Professor Bobby McFarland Dr Helen Tuppen Dr Andrew Morris Dr Anita Devlin Professor Robert Taylor et al.	Recurrent mutations in the NDUFS2 gene causing isolated complex I deficiency in skeletal muscle	2009
Dr Helen Tuppen Professor Bobby McFarland Professor Robert Taylor Dr Andrew Morris	The Biochemical and Molecular Genetic Aetiology of Leigh Syndrome	2009
Dr Amy Reeve Geoffrey Taylor Dr Joanna Elson Professor Robert Taylor Dr Christopher Morris et al.	The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons	2009
Professor Robert Taylor	Two Cases with Progressive Cystic Leukoencephalopathy	2009
Professor Roger Whittaker Dr John Blackwood Dr Charlotte Alston Dr Joanna Elson Professor Bobby McFarland et al.	Urine Heteroplasmy is the Best Predictor of Clinical Outcome in the m.3243A>G mtDNA Mutation	2009
Joanna Stewart Professor Gavin Hudson Dr Patrick Yu Wai Man Professor Rita Horvath Philip Griffiths et al.	OPA1 in multiple mitochondrial DNA deletion disorders	2008
Professor Robert Taylor Professor Laura Greaves Dr Martin Barron Philip Griffiths Emeritus Professor Doug Turnbull et al.	A histochemical and molecular genetic investigation of the selective, extraocular muscle involvement in chronic progressive external ophthalmoplegia	2008
Dr Helen Swalwell Dr Kasia Tonska Dr Matthias Elstner Emeritus Professor Mike Sir Michael Rawlins Emeritus Professor Doug Turnbull et al.	A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: Are two mutations better than one?	2008
Dr Mazhor Aldosary Professor Robert Taylor	A Novel Mitochondrial DNA Mutation in COX1 Leads to Strokes, Seizures, and Lactic Acidosis	2008
Professor Robert Taylor	A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance	2008
Joanna Stewart Professor Robert Taylor Professor Patrick Chinnery	Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma	2008
Dr Mazhor Aldosary Professor Robert Taylor	Comparative human mitochondrial genome analysis using the Affymetrix MitoChip and conventional cycle sequencing	2008
Professor Robert Taylor	Comparative human mitochondrial genome analysis using the affymetrix Mitochip v2 and conventional cycle sequencing	2008
Sergey Savelev Professor Anthony De Soyza Anne Nicholson Dr John Perry Emerita Professor Marion Petrie et al.	Developing a non-invasive test for pseudomonas detection: towards an electronic nose	2008
Dr Helen Tuppen Fabiana Fattori Professor Bobby McFarland Professor Robert Taylor	Further pitfalls in the diagnosis of mtDNA mutations: Homoplasmic mt-tRNA mutations	2008
Dr Julie Murphy Dr Richard Charlton Dr Rita Barresi Emerita Professor Katherine Bushby Professor Robert Taylor et al.	G.P.10.09 Mitochondrial dysfunction in dysferlinopathy	2008
Adillah Binti Yusof Dr Martin Barron Dr Stephanie Needham Dr Andrew Schaefer Professor Robert Taylor et al.	Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation	2008
Professor Robert Taylor	Identification of novel and recurrent mitochondrial DNA mutations in paediatric onset mitochondrial disease using the mitochip resequencing array	2008
Dr Ee Lim Professor Mike Trenell Dr Kieren Hollingsworth Dr Fiona Smith Professor Robert Taylor et al.	Is the sub-normal insulin stimulation of muscle ATP synthesis in type 2 diabetes always a consequence of low rates of muscle glycogen synthesis?	2008
Professor Laura Greaves Professor Robert Taylor Emeritus Professor Doug Turnbull	Mechanisms of Field Cancerization in the Human Stomach: The Expansion and Spread of Mutated Gastric Stem Cells	2008
Dr Andrew Schaefer Professor Bobby McFarland Professor Patrick Chinnery Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply	2008
Professor Gavin Hudson Joanna Stewart Emeritus Professor Mike Sir Michael Rawlins Dr Andrew Schaefer Philip Griffiths et al.	Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance	2008
Joanna Stewart Professor Gavin Hudson Professor Robert Taylor Professor Patrick Chinnery	Mutations in POLG1 can present with autosomal recessive axonal Charcot-Marie-Tooth disease	2008
Adillah Binti Yusof Dr Julie Murphy Professor Gavin Hudson Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy	2008
Joanna Stewart Dr Angela Pyle Emeritus Professor Mike Sir Michael Rawlins Professor Gavin Hudson Dr Andrew Morris et al.	Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.	2008
Dr Joanna Rorbach Dr Helen Tuppen Professor Zofia Chrzanowska-Lightowlers Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation	2008
Joanna Stewart Professor Gavin Hudson Professor Robert Taylor Professor Patrick Chinnery	POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease	2008
Professor Bobby McFarland Professor Roger Whittaker Professor Robert Taylor Emeritus Professor Doug Turnbull	Pre-eclampsia and magnesium toxicity with therapeutic plasma level in a woman with m.3243A > G melas mutation	2008
Dr Andrew Schaefer Professor Bobby McFarland Professor Roger Whittaker Professor Robert Taylor Professor Patrick Chinnery et al.	Prevalence of mitochondrial DNA disease in adults	2008
Dr Pierre Boesch Professor Robert Taylor Professor Robert Lightowlers	Progress and prospects: Gene therapy for mitochondrial DNA disease	2008
Dr Andrew Schaefer Professor Roger Whittaker Professor Bobby McFarland Professor Patrick Chinnery Professor Robert Taylor et al.	Reply	2008
Dr Julie Murphy Dr Andrew Schaefer Professor Robert Taylor Emeritus Professor Doug Turnbull	Resistance training in patients with single, large-scale deletions of mitochondrial DNA	2008
Professor Bobby McFarland Professor Gavin Hudson Professor Robert Taylor Dr Stephen Hodges Professor Patrick Chinnery et al.	Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1)	2008
Professor Bobby McFarland Dr Helen Swalwell Emeritus Professor Doug Turnbull Emerita Professor Katherine Bushby Professor Robert Taylor et al.	The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy	2008
Professor Robert Taylor Professor Bobby McFarland Emeritus Professor Doug Turnbull	The NCG Service for Rare Mitochondrial Disorders of Adults and Children: a clinical and molecular genetics perspective	2008
Dr Charlotte Alston Professor Roger Whittaker Dr John Blackwood Professor Bobby McFarland Emeritus Professor Doug Turnbull et al.	Urinary epithelia as an indicator of m.3243A>G heteroplasmy levels and predictor of clinical outcome	2008
Dr Amy Reeve Professor Patrick Chinnery Dr John Blackwood Professor Robert Taylor Professor Robert Lightowlers et al.	What causes mitochondrial DNA deletions in human cells?	2008
Professor Robert Taylor Emeritus Professor Doug Turnbull	A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells	2007
Dr Helen Swalwell Emeritus Professor Doug Turnbull Professor Robert Taylor	A NOVEL MITOCHONDRIAL TRNAPRO MUTATION ASSOCIATED WITH MYOCLONIC EPILEPSY WITH RAGGED RED FIBRES AND OTHER NEUROLOGICAL FEATURES	2007
Emeritus Professor Doug Turnbull Professor Robert Taylor	An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI	2007
Dr Denise Kirby Emeritus Professor Doug Turnbull Professor Robert Taylor	Biochemical Assays of Respiratory Chain Complex Activity	2007
Professor Mike Trenell Dr Kieren Hollingsworth Dr Ee Lim Jean Gerrard Professor Robert Taylor et al.	Changes in resting and maximal mitochondrial ATP production in type 2 diabetes; Non-invasive investigation by P-31-magnetic resonance spectroscopy	2007
Dr Angela Pyle Professor Robert Taylor Dr Steve Durham Dr Andrew Schaefer Dr David Samuels et al.	Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation	2007
Professor Roger Whittaker Dr Andrew Schaefer Professor Bobby McFarland Professor Robert Taylor Professor Mark Walker et al.	Diabetes and deafness: Is it sufficient to screen for the mitochondrial 3243A>G mutation alone?	2007
Professor Roger Whittaker Dr Andrew Schaefer Professor Robert Taylor Emeritus Professor Doug Turnbull	Differential diagnosis in ptosis and ophthalmoplegia: Mitochondrial disease or myasthenia? [11]	2007
Dr Julie Murphy Dr Lyndsey Butterworth Emeritus Professor Doug Turnbull Professor Robert Taylor	Experimental Strategies Towards Treating Mitochondrial DNA Disorders	2007
Dr Andrew Morris Rachel Appleton Professor Robert Taylor Emeritus Professor Doug Turnbull	Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy	2007
Professor Bobby McFarland Professor Patrick Chinnery Dr Andrew Schaefer Dr Andrew Morris Sharon Foster et al.	Homoplasmy, heteroplasmy, and mitochondrial dystonia	2007
Professor Robert Taylor	Induction of mitochondrial biogenesis is a maladaptive mechanism in cardiac remodeling	2007
Professor Robert Taylor	Induction of Mitochondrial Biogenesis Is a Maladaptive Mechanism in Mitochondrial Cardiomyopathies	2007
Professor Robert Taylor Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Investigation of metabolic myopathies	2007
Geoffrey Taylor Professor Pamela Shaw Emeritus Professor Doug Turnbull Professor Robert Taylor	Investigation of the mitochondrial genome in patients with atypical motor neuron disease	2007
Dr Julie Murphy Professor Robert Taylor Dr Andrew Schaefer	M.P.3.08 Resistance exercise training in mitochondrial myopathy due to single, large-scale deletions: Implications for therapy	2007
Emeritus Professor Doug Turnbull Professor Robert Taylor	MELAS associated with mutations in the POLG1 gene	2007
Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial disease - Its impact, etiology, and pathology	2007
Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial Disease-Its Impact, Etiology, and Pathology	2007
Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial DNA Transcription: Regulating the Power Supply	2007
Professor Gavin Hudson Dr Andrew Schaefer Professor Robert Taylor Watcharee Tiangyou Professor David Burn et al.	Mutation of the Linker Region of the Polymerase {gamma}-1 (POLG1) Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism	2007
Professor Gavin Hudson Dr Andrew Schaefer Professor Robert Taylor Professor David Burn Emeritus Professor Doug Turnbull et al.	Mutation of the linker region of the polymerase γ-1 (POLG1) gene associated with progressive external ophthalmoplegia and parkinsonism	2007
Professor Laura Greaves Dr Daniel Commane Dr Hazel Greetham Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Novel preliminary findings of mitochondrial DNA mutations in colonic crypts of patients with diverticular disease (the Boricc study)	2007
Professor Robert Taylor Professor Gavin Hudson Professor Patrick Chinnery	Nuclear gene mutations impacting mitochondrial genome maintenance	2007
Professor Roger Whittaker Dr Andrew Schaefer Professor Bobby McFarland Professor Robert Taylor Professor Mark Walker et al.	Prevalence and progression of diabetes in mitochondrial disease	2007
Dr Helen Swalwell Professor Bobby McFarland Emeritus Professor Doug Turnbull Professor Robert Taylor	Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation	2007
Dr Joanna Elson Emeritus Professor Doug Turnbull Professor Robert Taylor	Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach	2007
Professor Robert Taylor Emeritus Professor John Davison	Type 1 diabetes and pregnancy	2007
Professor Patrick Chinnery Professor Gavin Hudson Professor Robert Taylor Emeritus Professor Doug Turnbull Dr Vankateswara Ramesh et al.	When and how should neurologists test for mutations in POLG?	2007
Professor Robert Taylor Dr Helen Swalwell Dr Denise Kirby Professor Bobby McFarland Dr Anna Mitchell et al.	[abstract] The molecular genetic basis of respiratory chain complex I deficiency: Clinical presentations and mtDNA mutations	2006
Professor Robert Taylor Dr Andrew Schaefer Dr Langping He Professor Bobby McFarland Professor Roger Whittaker et al.	[abstract] The prevalence of pathogenic mitochondrial DNA mutations in adults	2006
Professor Patrick Chinnery Professor Robert Taylor	A case of progressive neuronal degeneration of childhood with severe mitochondrial respiratory chain deficiencies	2006
Emeritus Professor Doug Turnbull Professor Robert Taylor	A novel mitochondrial DNA tRNA gene mutation in a family with mitochondrial encephalopathy	2006
Professor Robert Taylor Emeritus Professor Doug Turnbull	An unusual case of congenital muscular dystrophy with mitochondrial structural abnormalities	2006
Professor Robert Taylor	Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma	2006
Dr Julie Murphy Professor Robert Taylor Dr Andrew Schaefer Dr Joseph Newman Dr Martin Barron et al.	Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions	2006
Dr Julie Murphy Emeritus Professor Doug Turnbull Professor Robert Taylor	Fatal mitochondrial DNA depletion myopathy due to novel mutations in the TK2 gene	2006
Dr Christopher Morris Geoffrey Taylor Dr Amy Reeve Emeritus Professor Robert Perry Dr Evelyn Jaros et al.	High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease	2006
Dr Ramesh Arasaradnam Professor Laura Greaves Dr Daniel Commane Professor John Mathers Professor Robert Taylor et al.	Mitochondrial DNA (MTDNA) mutations in human colonic crypts: A novel biomarker of colorectal cancer.	2006
Professor Laura Greaves Professor Robert Taylor Dr Martin Barron Emeritus Professor Doug Turnbull	Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission	2006
Professor Laura Greaves Professor Robert Taylor	Mitochondrial DNA mutations in human disease	2006
Dr Samir Gupta Dr Jonathan Wyllie Emeritus Professor Doug Turnbull Professor Robert Taylor	Mitochondrial respiratory chain defects and developmental diaphragmatic dysfunction in the neonatal period	2006
Dr Susan Betts Dr Evelyn Jaros Emeritus Professor Robert Perry Dr Andrew Schaefer Professor Robert Taylor et al.	Molecular neuropathology of MELAS: Level of heteroplasmy in individual neurones and evidence of extensive vascular involvement	2006
Professor Robert Taylor Emeritus Professor Doug Turnbull	Monoclonal conversion in human gastric glands: Insights into stem cell and clonal architecture	2006
Professor Robert Taylor Emeritus Professor Doug Turnbull	Monoclonal conversion of human gastric glands provides insights into stem cell and clonal architecture	2006
Dr Gillian Borthwick Professor Robert Taylor Dr Timothy Walls Dr Kasia Tonska Geoffrey Taylor et al.	Motor neuron disease in a patient with a mitochondrial tRNA^lle mutation	2006
Dr Steve Durham Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia	2006
Dr Helen Swalwell Professor Robert Taylor	Novel mitochondrial transfer RNA^Phe gene mutation associated with late-onset neuromuscular disease	2006
Professor Rita Horvath Professor Gavin Hudson Professor Hanns Lochmuller Professor Bobby McFarland Dr Vankateswara Ramesh et al.	Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene	2006
Professor Gavin Hudson Professor Robert Taylor Dr Andrew Schaefer Emeritus Professor Doug Turnbull Professor Patrick Chinnery et al.	POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions	2006
Dr Debbie Pye Dimitra-Smaragda Kyriakouli Geoffrey Taylor Dr Matthias Elstner Professor Zofia Chrzanowska-Lightowlers et al.	Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants	2006
Dr Helen Swalwell Emeritus Professor Doug Turnbull Professor Robert Taylor	Pure myopathy associated with a novel mitochondrial tRNA gene mutation	2006
Dr Anna Mitchell Dr Joanna Elson Professor Robert Taylor Emeritus Professor Doug Turnbull	Sequence variation in mitochondrial complex I genes: Mutation or polymorphism?	2006
Dr Kate Rennie Dr Matthias Elstner Professor Zofia Chrzanowska-Lightowlers Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis	2006
Dr Ana Jovanovic Jean Gerrard Professor Robert Taylor	The second meal effect results from priming of glycogen synthesis in muscle and liver and can be mimicked by administration of arginine	2006
Professor Mary Herbert Professor Patrick Chinnery Professor Robert Taylor Professor Robert Lightowlers Dr Lyndsey Butterworth et al.	Transmission of mitochondrial DNA disorders: possibilities for the future	2006
Dr Anna Mitchell Dr Andrew Schaefer Dr Margaret Jackson Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast	2005
Professor Gavin Hudson Professor Robert Taylor Professor Patrick Chinnery	A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia	2005
Professor Robert Taylor Emeritus Professor Doug Turnbull	Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations	2005
Dr Martin Barron Professor Patrick Chinnery Denise Howel Dr Andrew Schaefer Professor Robert Taylor et al.	Cytochrome c oxidase deficient muscle fibres: Substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy	2005
Professor Robert Taylor	False-positive diagnosis of a single, large-scale mitochondrial DNA deletion by southern blot analysis: The role of neutral polymorphisms	2005
Professor Robert Taylor	Gene therapy for the treatment of mitochondrial DNA disorders	2005
Emeritus Professor Doug Turnbull Professor Robert Taylor	LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation	2005
Dr Andrew Advani Professor Robert Taylor	Life-threatening hypokalaemia on a low-carbohydrate diet associated with previously undiagnosed primary hypoaldosteronism	2005
Professor Mark Walker Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial diabetes	2005
Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial DNA mutations in human disease	2005
Dr Andrew Schaefer Philip Griffiths Emeritus Professor Doug Turnbull Professor Robert Taylor	Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis	2005
Professor Robert Taylor Dr Joanna Elson Professor Bobby McFarland Dr Anna Mitchell Emeritus Professor Doug Turnbull et al.	Sequence variation in the mitochondrial genome: what is the pathogenic mutation?	2005
Dr Andrew Schaefer Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Timelines in mitochondrial DNA disease: Genotypes, phenotypes, and disease progression	2005
Dr Andrew Schaefer Dr Julie Murphy Dr Martin Barron Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Treating the untreatable: Exercise induced stem cell activation as a novel treatment for mitochondrial myopathy	2005
Professor Robert Taylor Dr Margaret Johnson Professor Zofia Chrzanowska-Lightowlers Dr Andrew Morris Emeritus Professor Doug Turnbull et al.	A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome	2004
Professor Bobby McFarland Professor Robert Taylor Professor Patrick Chinnery Emeritus Professor Doug Turnbull	A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis	2004
Dr Joanna Elson Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough	2004
Professor Bobby McFarland Dr Joanna Elson Professor Robert Taylor Emeritus Professor Doug Turnbull	Assigning pathogenicity to mitochondrial tRNA mutations: when 'definitely maybe' is not good enough	2004
Professor Robert Taylor Dr Andrew Schaefer Christine Hayes Professor Bobby McFarland Emeritus Professor Doug Turnbull et al.	Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene	2004
Professor Bobby McFarland Professor Robert Taylor	Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation	2004
Professor Bobby McFarland Dr Denise Kirby Emeritus Professor Doug Turnbull Professor Robert Taylor	De Novo Mutations in the Mitochondrial ND3 Gene as a Cause of Infantile Mitochondrial Encephalopathy and Complex I Deficiency	2004
Dr Martin Barron Emeritus Professor Doug Turnbull Professor Robert Taylor	Endurance training in patients with single, large-scale mtDNA deletions: molecular genetic studies	2004
Professor Bobby McFarland Dr Andrew Schaefer Dr Julie Murphy Dr Stephen Lynn Christine Hayes et al.	Familial Myopathy: New Insights into the T14709C Mitochondrial tRNA Mutation	2004
Dr Andrew Schaefer Professor Bobby McFarland Professor Patrick Chinnery Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Mitochondrial disease: new prevalence figures with major resource implications	2004
Professor Robert Taylor Professor Patrick Chinnery Professor Robert Lightowlers Dr Andrew Schaefer Emeritus Professor Doug Turnbull et al.	Mitochondrial DNA deletion in "identical" twin brothers	2004
Dr Langping He Professor Robert Taylor Professor Patrick Chinnery Professor Robert Lightowlers Dr Andrew Schaefer et al.	Mitochondrial DNA deletion in identical twins	2004
Professor Robert Taylor Dr Langping He Professor Laura Greaves Geoffrey Taylor Dr Martin Barron et al.	Mitochondrial DNA mutations in human colonic crypt stem cells	2004
Professor Laura Greaves Dr Martin Barron Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial DNA mutations in human colonic crypt stem cells - implications for function	2004
Professor Robert Taylor Anna Lewall Professor Stephen Proctor Dr Peter Middleton Emeritus Professor Doug Turnbull et al.	Mitochondrial DNA mutations in the haematopoietic system.	2004
Dr Denise Kirby Professor Bobby McFarland Emeritus Professor Doug Turnbull Professor Robert Taylor	Mutations of the mitochondrial ND1 gene as a cause of MELAS	2004
Dr Denise Kirby Professor Robert Taylor	NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency	2004
Professor Patrick Chinnery Dr Andrew Schaefer Emeritus Professor Doug Turnbull Professor Robert Taylor	No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation	2004
Dr Andrew Schaefer Professor Bobby McFarland Professor Patrick Chinnery Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Nonivasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells	2004
Dr Andrew Schaefer Dr Martin Barron Philip Griffiths Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Ophthalmoplegia: When all the tests are negative	2004
Professor Bobby McFarland Professor Robert Taylor Dr Joanna Elson Professor Robert Lightowlers Emeritus Professor Doug Turnbull et al.	Proving pathogenicity: When evolution is not enough	2004
Professor Patrick Chinnery Professor Hanns Lochmuller Professor Rita Horvath Professor Robert Taylor Professor John Matthews et al.	Risk of developing a mitochondrial DNA deletion disorder	2004
Professor Gavin Hudson Dr Andrew Schaefer Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Patrick Chinnery et al.	Sensory ataxic neuropathy due to a novel C10Orf2 (Twinkle) gene mutation with germline mosaicism	2004
Dr Margaret Jackson Dr Margaret Johnson Professor Zofia Chrzanowska-Lightowlers Professor Robert Taylor Professor Robert Lightowlers et al.	Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNA^Ser(UCN) gene	2004
Dr Gunther Ross Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Robert Lightowlers	Strategies for treating disorders of the mitochondrial genome	2004
Professor Robert Taylor Dr Andrew Schaefer Dr Martin Barron Professor Bobby McFarland Emeritus Professor Doug Turnbull et al.	The diagnosis of mitochondrial muscle disease	2004
Dr Andrew Schaefer Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Patrick Chinnery	The epidemiology of mitochondrial disorders - past, present and future	2004
Professor Patrick Chinnery Professor Hanns Lochmuller Professor Laurence Bindoff Professor Robert Taylor Professor John Matthews et al.	The risk of developing a mitochondrial DNA deletion disorder	2004
Professor Robert Taylor Dr Hugh Bain Christine Hayes Dr Martin Barron Professor Robert Lightowlers et al.	A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy	2003
Emeritus Professor Doug Turnbull Professor Robert Taylor	A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia	2003
Professor Zofia Chrzanowska-Lightowlers Dr Morteza Pourfarzam Professor Robert Taylor Emeritus Professor Doug Turnbull	A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency	2003
Dr Paul Smith Dr Gunther Ross Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Robert Lightowlers et al.	Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase γ in vitro is not impaired	2003
Dr Theresa Wardell Professor Patrick Chinnery Dr Gillian Borthwick Professor Robert Taylor Professor Graham Jackson et al.	Changes in the human mitochondrial genome after treatment of malignant disease	2003
Dr Theresa Wardell Elizabeth Ferguson Professor Patrick Chinnery Dr Gillian Borthwick Professor Robert Taylor et al.	Changes in the human mitochondrial genome after treatment of malignant disease	2003
Professor Bobby McFarland Dr Denise Kirby Emeritus Professor Doug Turnbull Professor Robert Taylor	De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency	2003
Dr Andrew Schaefer Professor Bobby McFarland Dr Julie Murphy Dr Stephen Lynn Christine Hayes et al.	Familial mitochondrial myopathy: New insights into the T14709C mitochondrial tRNA mutation	2003
Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy	2003
Dr Brian Bigger Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Robert Lightowlers	Gene therapy for mitochondrial DNA disorders	2003
Professor Robert Taylor Professor Patrick Chinnery Geoffrey Taylor Emeritus Professor Doug Turnbull	Genotypes from patients indicate no paternal mitochondrial DNA contribution	2003
Professor Robert Taylor Christopher Hayes Emerita Professor Katherine Bushby Emeritus Professor Doug Turnbull Professor Pamela Shaw et al.	Investigation of mitochondrial function in hereditary spastic paraparesis	2003
Emeritus Professor Doug Turnbull Professor Robert Taylor	Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA	2003
Professor Robert Taylor Dr Martin Barron Dr Gillian Borthwick Professor Patrick Chinnery Dr David Samuels et al.	Mitochondrial DNA mutations and aging in human colonic crypts and stem cells	2003
Professor Robert Taylor Dr Martin Barron Dr Gillian Borthwick Professor Patrick Chinnery Dr David Samuels et al.	Mitochondrial DNA mutations in human colonic crypt stem cells	2003
Professor Patrick Chinnery Professor Robert Taylor Dr Andrew Schaefer Emeritus Professor Doug Turnbull	Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)	2003
Anna Lewall Dr Liewi Luo Professor Stephen Proctor Dr Peter Middleton Professor Robert Taylor et al.	Somatic mitochondrial DNA mutations in adult-onset leukaemia	2003
Dr Paul Smith Dr Gunther Ross Dr Theresa Wardell Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	The use of PNAs and their derivatives in mitochondrial gene therapy	2003
Professor Robert Taylor Dr Andrew Schaefer Professor Bobby McFarland Emeritus Professor Doug Turnbull	A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy	2002
Professor Robert Taylor	Blood pressure and cardiovascular risk in the HOPE study	2002
Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Bobby McFarland Dr Andrew Schaefer	Defects of the mitochondrial genome	2002
Professor Patrick Chinnery Dr Steve Durham Dr Theresa Wardell Dr Gillian Borthwick Professor Robert Taylor et al.	Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR	2002
Dr Jane Hutton Professor Robert Taylor Emeritus Professor Doug Turnbull	GRACILE syndrome is caused by a point mutation in BCS1L suggesting a new role of the BCS1L in iron metabolism	2002
Dr Jane Hutton Professor Robert Taylor Emeritus Professor Doug Turnbull	GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L	2002
Professor Bobby McFarland Professor Robert Taylor Professor Patrick Chinnery Professor Robert Lightowlers Emeritus Professor Doug Turnbull et al.	Health, disability and death: A new spectrum of disease for homoplasmic mutations of mitochondrial DNA	2002
Professor Robert Taylor Christine Hayes Emerita Professor Katherine Bushby Emeritus Professor Doug Turnbull Professor Pamela Shaw et al.	Investigation of mitochondrial function in hereditary spastic paraparesis	2002
Professor Robert Taylor Dr Andrew Morris Dr Michael Hutchinson Emeritus Professor Doug Turnbull	Leigh disease associated with a novel mitochondrial DNA ND5 mutation	2002
Dr Andrew Schaefer Professor Robert Taylor Professor Patrick Chinnery	Mitochondrial disease and symptom progression: A complex management issue	2002
Fiona Menzies Dr Mark Cookson Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Zofia Chrzanowska-Lightowlers et al.	Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis	2002
Professor Robert Taylor Christine Hayes Emeritus Professor Doug Turnbull	Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness	2002
Professor Bobby McFarland Kim Clark Dr Andrew Morris Professor Robert Taylor Dr Sheila MacPhail et al.	Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation	2002
Dr Peter Carey Professor Robert Taylor	Post-prandial substrate storage in Type 2 diabetes	2002
Dr Ranjeet Pandit Professor Robert Taylor	Quality Assurance in eye screening	2002
Dr Ranjeet Pandit Professor Robert Taylor	Quality assurance in screening for sight-threatening diabetic retinopathy	2002
Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	The neurology of mitochondrial DNA disease	2002
Professor Robert Taylor Dr Theresa Wardell Dr Paul Smith Emeritus Professor Doug Turnbull Professor Robert Lightowlers et al.	An antigenomic strategy for treating heteroplasmic mtDNA disorders	2001
Professor Robert Taylor Dr Rajinder Singh-Kler Christine Hayes Emeritus Professor Doug Turnbull	Annals 25th anniversary	2001
Paul Counter Dr Theresa Wardell Professor Robert Taylor Emeritus Professor Doug Turnbull	Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect	2001
Paul Counter Dr Theresa Wardell Professor Robert Taylor Emeritus Professor Doug Turnbull Dr Pamela Robinson et al.	Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect	2001
Emeritus Professor Doug Turnbull Professor Robert Lightowlers Professor Robert Taylor	Current perspectives in the treatment of mitochondrial DNA diseases	2001
Professor Robert Taylor Dr Theresa Wardell Professor Bernard Connolly Emeritus Professor Doug Turnbull Professor Robert Lightowlers et al.	Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates	2001
Professor Robert Taylor Dr Theresa Wardell Professor Robert Lightowlers Emeritus Professor Doug Turnbull	Molecular basis for treatment of mitochondrial myopathies	2001
Professor Robert Taylor Dr Rajinder Singh-Kler Christine Hayes Emeritus Professor Doug Turnbull	Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene	2001
Professor Robert Lightowlers Professor Robert Taylor	Targeting large molecules to mitochondria	2001
Professor Robert Lightowlers Professor Robert Taylor Emeritus Professor Doug Turnbull	Targeting peptide nucleic acid (PNA) oligomers to mitochondria within cells by conjugation to lipophilic cations: Implications for mitochondrial DNA replication, expression and disease	2001
Professor Robert Taylor Gordon Taylor Dr Steve Durham Emeritus Professor Doug Turnbull	The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations	2001
Professor Robert Taylor Emeritus Professor Doug Turnbull	The mitochondrial genome and mitochondrial muscle disorders	2001
Professor Robert Taylor Dr Theresa Wardell Dr Gillian Borthwick Dr Elizabeth Brierley Emeritus Professor Doug Turnbull et al.	Analysis of Mitochondrial DNA Mutations	2000
Professor Robert Taylor Dr Richard Andrews Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Analysis of mitochondrial DNA mutations: point mutations	2000
Professor Robert Taylor Professor Patrick Chinnery Professor Robert Lightowlers	In-vitro genetic modification of mitochondrial function	2000
Professor Mark Birch-Machin Professor Robert Taylor Emeritus Professor Doug Turnbull	Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene	2000
Professor Patrick Chinnery Geoffrey Taylor Dr Richard Andrews Dr Christopher Morris Professor Robert Taylor et al.	Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies	2000
Professor Robert Taylor Dr Theresa Wardell Professor Robert Lightowlers Emeritus Professor Doug Turnbull	Molecular basis for treatment of mitochondrial myopathies	2000
Professor Patrick Chinnery Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Robert Lightowlers	Peptide nucleic acid and delivery to human mitochondria	2000
Professor Patrick Chinnery Dr Margaret Johnson Dr Theresa Wardell Dr Rajinder Singh-Kler Professor Robert Taylor et al.	The epidemiology of pathogenic mitochondrial DNA mutations	2000
Professor Robert Taylor Dr Margaret Johnson Professor Patrick Chinnery Professor Zofia Chrzanowska-Lightowlers Professor Michael Hanna et al.	An mtDNA Mutation in the Initiation Codon of the Cytochrome C Oxidase Subunit II Gene Results in Lower Levels of the Protein and a Mitochondrial Encephalomyopathy	1999
Kim Clark Professor Robert Taylor Dr Margaret Johnson Professor Patrick Chinnery Professor Zofia Chrzanowska-Lightowlers et al.	An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy	1999
Professor Robert Taylor Dr Richard Andrews Professor Patrick Chinnery Emeritus Professor Doug Turnbull	Analysis of Mitochondrial DNA mutations	1999
Professor Patrick Chinnery Professor Mark Walker Professor Robert Taylor Professor Robert Lightowlers Professor Laurence Bindoff et al.	Nonrandom tissue distribution of mutant mtDNA	1999
Professor Patrick Chinnery Professor Mark Walker Professor Robert Taylor Professor Robert Lightowlers Professor Laurence Bindoff et al.	Non-random tissue distribution of mutant mtDNA	1999
Professor Patrick Chinnery Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Robert Lightowlers	Peptide nucleic acid delivery to human mitochondria	1999
Professor Patrick Chinnery Professor Robert Taylor Emeritus Professor Doug Turnbull Professor Robert Lightowlers	Peptide nucleic acid delivery to human mitochondria	1999
Professor Robert Taylor Professor Patrick Chinnery Emeritus Professor David Bates Dr Margaret Jackson Dr Margaret Johnson et al.	A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: Studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis	1998