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Browsing publications by Professor Robert Taylor.

Newcastle AuthorsTitleYearFull text
Dr Kyle Thompson
Professor Bobby McFarland
Professor Robert Taylor
Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease2022
Dr Charlotte Alston
Rui Ban
Professor Robert Taylor
Clinical implementation of RNA sequencing for Mendelian disease diagnostics2022
Dr Angela Pyle
Professor Robert Taylor
Defining mitochondrial protein functions through deep multiomic profiling2022
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 disease2022
Dr Yi Ng
Dr Nichola Lax
Dr Alasdair Blain
Dr Daniel Erskine
Dr Mark Baker
et al.
Forecasting stroke-like episodes and outcomes in mitochondrial disease2022
Ahmad Alahmad
Professor Robert Taylor
Professor Bobby McFarland
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency2022
Dr Amy Vincent
Julie Faitg
Professor Robert Taylor
Mosaic dysfunction of mitophagy in mitochondrial disease2022
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 Progression2022
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 mechanisms2022
Professor Robert Taylor
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders2022
Ewen Sommerville
Professor Patrick Chinnery
Professor Grainne Gorman
Professor Robert Taylor
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis2022
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 formats2022
Dr Monika Olahova
Dr Ewen Sommerville
Dr Jack Collier
Professor Grainne Gorman
Professor Robert Taylor
et al.
POLRMT mutations impair mitochondrial transcription causing neurological disease2021
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 report2021
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 DNA2021
Jack Collier
Dr Monika Olahova
Professor Robert Taylor
ATG7 safeguards human neural integrity2021
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 presentations2021
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 humans2021
Dr Jack Collier
Dr Monika Olahova
Professor Robert Taylor
Emerging roles of ATG7 in human health and disease2021
Yasmin Tang
Dr Angela Pyle
Professor Robert Taylor
Dr Monika Olahova
Interrogating mitochondrial biology and disease using CRISPR/Cas9 gene editing2021
Professor Robert Taylor
LONP1 and mtHSP70 cooperate to promote mitochondrial protein folding2021
Jack Collier
Professor Robert Taylor
Machine learning algorithms reveal the secrets of mitochondrial dynamics2021
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 promise2021
Professor Bobby McFarland
Professor Robert Taylor
The Effect of tRNA[Ser]Sec Isopentenylation on Selenoprotein Expression2021
Dr Charlotte Alston
Dr Gavin Hudson
Professor Robert Taylor
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines2021
Dr Uwe Richter
Professor Bobby McFarland
Professor Robert Taylor
Dr Sarah Pickett
The molecular pathology of pathogenic mitochondrial tRNA variants2021
Dr Langping He
Professor Robert Taylor
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease2021
Professor Robert Taylor
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency2020
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 features2020
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 tumorigenesis2020
Professor Robert Taylor
Albinism and a mitochondrial DNA deletion2020
Dr Amy Vincent
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Assessment of mitochondrial respiratory chain enzymes in cells and tissues2020
Dr Francesco Bruni
Dr Langping He
Professor Robert Taylor
Professor Zofia Chrzanowska-Lightowlers
Biallelic Mutations in MTPAP Associated with a Lethal Encephalophy2020
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 I2020
Charlotte Warren
Dr David McDonald
Professor David Deehan
Professor Robert Taylor
Dr Andrew Filby
et al.
Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry2020
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 deletion2020
Professor Robert Taylor
FBXL4 deficiency increases mitochondrial removal by autophagy2020
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 controls2020
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 cells2020
Professor Robert Taylor
Professor Michael Hanna
Dr Robert Pitceathly
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant2020
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 Deficiency2020
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 Deficiency2020
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-tRNAPro) gene variant2020
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 disease2020
Professor Robert Taylor
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism2020
Professor Bobby McFarland
Professor Robert Taylor
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey2020
Dr Alison Yarnall
Dr Antoneta Granic
Sammy Waite
Dr Kieren Hollingsworth
Charlotte Warren
et al.
The feasibility of muscle mitochondrial respiratory chain phenotyping across the cognitive spectrum in Parkinson’s disease2020
Millie Fullerton
Professor Bobby McFarland
Professor Robert Taylor
Dr Charlotte Alston
The genetic basis of isolated mitochondrial complex II deficiency2020
Dr Charlotte Alston
Professor Bobby McFarland
Professor Robert Taylor
The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant2020
Dr Ewen Sommerville
Professor Robert Taylor
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency2020
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 aging2020
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 myopathy2019
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 changes2019
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 Ataxia2019
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 ability2019
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 variant2019
Professor Bobby McFarland
Professor Robert Taylor
Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions2019
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 study2019
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 disease2019
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 maintenance2019
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 cardiomyopathy2019
Gavin Falkous
Professor Robert Taylor
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy2019
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 prognosis2019
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 control2019
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 disease2019
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 processing2019
Dr Angela Pyle
Professor Robert Taylor
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses2019
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 study2019
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 replacement2019
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 study2019
Dr Amy Vincent
Dr Kathryn White
Tracey Davey
Jonathan Phillips
Dr Conor Lawless
et al.
Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network2019
Roisin Boggan
Dr Albert Lim
Professor Robert Taylor
Professor Bobby McFarland
Dr Sarah Pickett
et al.
Resolving complexity in mitochondrial disease: Towards precision medicine2019
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 level2019
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 Load2018
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 defect2018
Dr Laura Greaves
Professor Robert Taylor
Dr Jim Stewart
A novel histochemistry assay to assess and quantify focal cytochrome c oxidase deficiency2018
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 deficiency2018
Dr Kyle Thompson
Dr Langping He
Professor Robert Taylor
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways2018
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 Disorder2018
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 Deficiency2018
Dr Kyle Thompson
Professor Robert Taylor
Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism2018
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 Function2018
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 disease2018
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) deficiency2018
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 disease2018
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 variant2018
Dr Kyle Thompson
Ahmad Alahmad
Dr Langping He
Professor Robert Taylor
Expanding the clinical phenotype of IARS2-related mitochondrial disease2018
Dr Kyle Thompson
Sila Hopton
Dr Langping He
Professor Robert Taylor
Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy2018
Professor Robert Taylor
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases2018
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 populations2018
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 depletion2018
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 Cells2018
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 disease2018
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 disease2018
Dr Kyle Thompson
Professor Bobby McFarland
Professor Robert Taylor
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy2018
Dr Kyle Thompson
Frances White
Steven Hardy
Professor Robert Taylor
Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults2018
Professor Robert Taylor
New observations regarding the retinopathy of genetically confirmed Kearns-Sayre syndrome2018
Dr Mariana Rocha
Hannah Rosa
Dr John Grady
Dr Langping He
Jane Newman
et al.
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions2018
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 factors2018
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 vivo2018
Professor Robert Taylor
Professor Bobby McFarland
Professor Grainne Gorman
Dr Ewen Sommerville
Professor Patrick Chinnery
et al.
Retrospective natural history of thymidine kinase 2 deficiency2018
Dr Julie Murphy
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Professor Grainne Gorman
Professor Bobby McFarland
et al.
Scientific and Ethical Issues in Mitochondrial Donation2018
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 gene2018
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 study2018
Dr Amy Vincent
Hannah Rosa
Kamil Pabis
Dr Conor Lawless
Dr Chun Chen
et al.
Subcellular origin of mitochondrial DNA deletions in human skeletal muscle2018
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 disease2018
Professor Rita Horvath
Professor Bobby McFarland
Professor Robert Taylor
The genotypic and phenotypic spectrum of MTO1 deficiency2018
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 mtDNA2018
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 Deficiencies2017
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 pitfalls2017
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 myopathy2017
Charlotte Hemingbrough
Professor Fai Ng
Professor Robert Taylor
Professor Julia Newton
Dr Joanna Elson
et al.
Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome2017
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 activities2017
Dr Charlotte Alston
Charlotte Knowles
Professor Robert Taylor
Professor Bobby McFarland
De novo mtDNA point mutations are common and have a low recurrence risk2017
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 dysfunction2017
Dr Yi Ng
Professor Robert Taylor
Dr Andrew Schaefer
Diabetes Mellitus in Mitochondrial Disease2017
Professor Robert Taylor
Genetic diagnosis of Mendelian disorders via RNA sequencing2017
Professor Robert Taylor
MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase2017
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 Prostates2017
Professor Robert Taylor
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy2017
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 subunits2017
Dr Yi Ng
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia2017
Professor Robert Taylor
Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA2017
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 Ophthalmoplegia2017
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 aciduria2017
Dr Charlotte Alston
Professor Robert Taylor
Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions2017
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 variant2017
Dr Emma Watson
Dr Langping He
Professor Robert Taylor
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism2017
Professor Robert Taylor
Dr Arjan De Brouwer
Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases2017
Dr Charlotte Alston
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Recent Advances in Mitochondrial Disease2017
Dr Charlotte Alston
Dr Mariana Rocha
Dr Nichola Lax
Emeritus Professor Doug Turnbull
Professor Robert Taylor
et al.
The genetics and pathology of mitochondrial disease2017
Professor Robert Taylor
Professor Bobby McFarland
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors2017
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 deficiency2017
Dr Charlotte Alston
Professor Robert Taylor
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis2016
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 phenotype2016
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 Phenotype2016
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency2016
Dr Yi Ng
Steven Hardy
Professor Robert Taylor
Clinical features of the pathogenic m.5540G > A mitochondrial transfer RNA tryptophan gene mutation2016
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 Disease2016
Professor Robert Taylor
Clinical, molecular, radiological investigations in patients with SURF1 mutations and muscle biopsy findings2016
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 mechanisms2016
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 myositis2016
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 report2016
Dr Charlotte Alston
Professor Robert Taylor
Cystic Leukoencephalopathy due to NDUFV1 mutation – A Report of the Phenotype and Its Rare Co-occurrence with Primary Hyperoxaluria2016
Dr Amy Vincent
Hannah Rosa
Dr Charlotte Alston
Dr John Grady
Dr Karolina Rygiel
et al.
Dysferlin mutations and mitochondrial dysfunction2016
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 review2016
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 mutation2016
Professor Robert Taylor
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: Phenotypes linked by truncating variants in NDUFB112016
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 childhood2016
Dr Langping He
Dr Matt Bates
Professor Robert Taylor
Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure2016
Professor Bobby McFarland
Professor Robert Taylor
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure2016
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 disease2016
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 bottleneck2016
Dr Amy Vincent
Dr John Grady
Dr Mariana Rocha
Dr Charlotte Alston
Dr Karolina Rygiel
et al.
Mitochondrial dysfunction in myofibrillar myopathy2016
Dr Charlotte Alston
Professor Robert Taylor
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function2016
Professor Robert Taylor
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria2016
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 biopsy2016
Dr Charlotte Alston
Professor Robert Taylor
Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families2016
Dr Yi Ng
Catherine Feeney
Dr Andrew Schaefer
Paula Hynd
Dr Charlotte Alston
et al.
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination2016
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 Deficiencies2016
Professor Robert Taylor
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts2016
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 Number2016
Professor Robert Taylor
Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT32016
Dr Helen Tuppen
Professor Robert Taylor
Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations2016
Professor Bobby McFarland
Professor Robert Taylor
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients2016
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 adults2016
Dr Charlotte Alston
Professor Bobby McFarland
Professor Robert Taylor
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA22016
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 disease2016
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 deafness2016
Dr Yi Ng
Dr Patrick Yu Wai Man
Professor Robert Taylor
The m.13051G > A mitochondrial DNA mutation results in variable neurology and activated mitophagy2016
Dr Amy Vincent
Dr Yi Ng
Dr Kathryn White
Tracey Davey
Gavin Falkous
et al.
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy2016
Dr Hannah Steele
Professor Rita Horvath
Professor Robert Taylor
The swinging pendulum of biomarkers in mitochondrial disease: the role of FGF212016
Dr Charlotte Alston
Professor Robert Taylor
Three families with 'de novo' m.3243A > G mutation2016
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 population2015
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 Deficiencies2015
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 parkinsonism2015
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 diagnosis2015
Dr Diana Lehmann
Karen Baty
Professor Robert Taylor
A novel m.7539C > T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease2015
Dr Helen Tuppen
Professor Robert Taylor
A novel mitochondrial DNA m.7507A > G mutation is only pathogenic at high levels of heteroplasmy2015
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 deficiency2015
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 deficiency2015
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 metabolism2015
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 Disease2015
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 Infancy2015
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 Treatment2015
Dr Steven Hardy
Professor Robert Taylor
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency2015
Professor Robert Taylor
Professor Bobby McFarland
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations2015
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 282015
Professor Robert Taylor
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency2015
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.2015.001022015
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 mitochondria2015
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 Study2015
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 mutations2015
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 Mutations2015
Professor Grainne Gorman
Dr Hue Hornig - Do
Dr Helen Tuppen
Dr Laura Greaves
Dr Langping He
et al.
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression2015
Dr Diana Lehmann
Dr Steven Hardy
Dr Helen Tuppen
Karen Baty
Professor Robert Taylor
et al.
Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy2015
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 Disease2015
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 disease2015
Dr Charlotte Alston
Professor Robert Taylor
SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions2015
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 aminoacylation2015
Dr Francesco Bruni
Professor Bobby McFarland
Professor Robert Taylor
The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism2015
Professor Robert Taylor
The investigation and management of metabolic myopathies2015
Dr Joanna Elson
Dr Paul Smith
Dr 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 disease2015
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 disease2015
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 cells2015
Dr Veronika Boczonadi
Dr Angela Pyle
Dr Boglarka Bansagi
Marie Appleton
Professor Hanns Lochmuller
et al.
ANO10 mutations cause ataxia and coenzyme Q10 deficiency2014
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 disease2014
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 Muscle2014
Dr Helen Griffin
Dr Angela Pyle
Dr Charlotte Alston
Dr Jennifer Duff
Dr Gavin Hudson
et al.
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations2014
Dr Ewen Sommerville
Professor Patrick Chinnery
Professor Grainne Gorman
Professor Robert Taylor
Adult-onset Mendelian PEO Associated with Mitochondrial Disease2014
Dr Laura Greaves
Professor Robert Taylor
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy2014
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 Failure2014
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 gene2014
Dr 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 Ageing2014
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 tRNA2014
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 deletions2014
Georgia Campbell
Kim Krishnan
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle2014
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" mutation2014
Dr Stuart Williamson
Laura Wilson
Graeme Williamson
Dr Laura Greaves
Dr Helen Tuppen
et al.
Finding a niche. The location of human prostate stem cells2014
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 myositis2014
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 deficiency2014
Dr Steven Hardy
Professor Robert Taylor
Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency2014
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 Encephalopathy2014
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 maintenance2014
Dr Charlotte Alston
Emeritus Professor Doug Turnbull
Dr Jane Stewart
Professor Bobby McFarland
Professor Robert Taylor
et al.
PGD to prevent mitochondrial disease: embryological aspects2014
Dr Lyndsey Butterworth
Dr Laura Irving
Dr Charlotte Alston
Dr Emma Watson
Professor Bobby McFarland
et al.
Preimplantation genetic diagnosis for mitochondrial DNA disease2014
Professor Robert Taylor
Preventing the transmission of mitochondrial DNA disease2014
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 tissue2014
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 patients2014
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 Mutation2014
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 cells2014
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 Deficiencies2014
Dr Emma Watson
Professor Robert Taylor
MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast2013
Professor Grainne Gorman
Dr Robert Pitceathly
Emeritus Professor Doug Turnbull
Professor Robert Taylor
RRM2B-Related Mitochondrial Disease2013
Professor Robert Taylor
Dr Langping He
Professor Patrick Chinnery
A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders2013
Dr Helen Tuppen
Dr Langping He
Professor Robert Taylor
Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features2013
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 measures2013
Professor Robert Taylor
Clinical and biochemical features associated with BCS1L mutation2013
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 carriers2013
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 disease2013
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 Study2013
Dr Joanna Rorbach
Professor Robert Taylor
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy2013
Dr Andrew Schaefer
Professor Mark Walker
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Endocrine disorders in mitochondrial disease2013
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 Ophthalmoplegia2013
Professor Robert Taylor
Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations2013
Professor Roger Whittaker
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease2013
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 scale2013
Dr John Yarham
Professor Robert Taylor
Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects2013
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 Deletions2013
Graham Campbell
Dr Amy Reeve
Dr Iryna Ziabreva
Dr Tuomo Polvikoski
Professor Robert Taylor
et al.
Mitochondrial DNA deletions and depletion within paraspinal muscles2013
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 therapies2013
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 22013
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 Maintenance2013
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 Epilepsy2013
Helen Bogle
Dr Nichola Lax
Dr Evelyn Jaros
Professor Bobby McFarland
Professor Robert Taylor
et al.
Neuropathological changes in Alpers' syndrome2013
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 Disease2013
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 abnormalities2013
Professor Bobby McFarland
Dr Andrew Morris
Professor Robert Taylor
SURF1 deficiency: a multi-centre natural history study2013
Dr John Yarham
Dr Charlotte Alston
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
Professor Robert Taylor
et al.
The m.3291T > C mt-tRNALeu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease2013
Dr Paul Smith
Dr Joanna Elson
Dr 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 potential2013
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 management2013
Anna Butterworth
Dr Langping He
Professor Bobby McFarland
Professor Robert Taylor
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle2012
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 atrophy2012
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 subunits2012
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 mutations2012
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 mutations2012
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/ADCK32012
Dr Angela Pyle
Dr Adam Hassani
Professor Robert Taylor
Professor Patrick Chinnery
Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene2012
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 mutations2012
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 characteristics2012
Dr Matthew Bates
Dr John Bourke
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management2012
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 load2012
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 Study2012
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 disease2012
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 disease2012
Dr 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 Mutations2012
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 carriers2012
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 myopathy2012
Dr Patrick Yu Wai Man
Professor Grainne Gorman
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia2012
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 maintenance2012
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 carriers2012
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 disease2012
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) Study2012
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 cardiomyopathy2012
Professor Robert Taylor
Late onset Muscle Mitochondrial Disease due to a p.R357P Twinkle mutation in an Irish family2012
Dr John Blackwood
Dr 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 myopathy2012
Dr Nichola Lax
Graham Campbell
Dr Amy Reeve
Jessica Zambonin
Professor Robert Taylor
et al.
Loss of Myelin-Associated Glycoprotein in Kearns-Sayre Syndrome2012
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 disease2012
Dr Laura Greaves
Dr Amy Reeve
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial DNA and disease2012
Graham Campbell
Kim Krishnan
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial DNA deletions do not have a replicative advantage in human muscle2012
Professor Robert Taylor
Mitochondrial DNA depletion syndromes - a 5 year audit of molecular genetic diagnoses2012
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 osteoarthritis2012
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 study2012
Anna Butterworth
Dr Langping He
Professor Bobby McFarland
Professor Robert Taylor
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle2012
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 epilepsy2012
Smatanova Borras
Dayne Bromley
Philip Scully
Dr Jonathan Coxhead
Dr Ann Curtis
et al.
'Noonan Spectrum Test' - comprehensive screening for RASopathies2012
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 deficiency2012
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 disease2012
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 deficiency2012
Dr Patrick Yu Wai Man
Professor Robert Taylor
Professor Patrick Chinnery
Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations2012
Dr Julie Murphy
Jane Newman
Thiloka Ratnaike
Gavin Falkous
Dr Charlotte Alston
et al.
Resistance training in patients with mitochondrial myopathy2012
Dr Nichola Lax
Professor Roger Whittaker
Philippa Hepplewhite
Dr Amy Reeve
Dr Evelyn Jaros
et al.
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations2012
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 splicing2012
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 syndrome2012
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 platform2012
Dr Brendan Payne
Dr Ian Wilson
Dr Patrick Yu Wai Man
Dr Jonathan Coxhead
Professor David Deehan
et al.
Universal heteroplasmy of human mitochondrial DNA2012
Vivienne Neeve
Professor Hanns Lochmuller
Dr 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 Syndrome2012
Dr John Blackwood
Dr Stuart Williamson
Dr 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 cells2011
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 Mutations2011
Dr Victoria Nesbitt
Professor Kim Bartlett
Professor Robert Taylor
Professor Bobby McFarland
Congenital lactic acidosis and mitochondrial disease - when to suspect and how to manage2011
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 muscle2011
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 degeneration2011
Dr Julie Murphy
Ersong Shang
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Exercise training in patients with mitochondrial myopathy: the analysis of COX-intermediate fibres2011
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 families2011
Dr Karolina Rygiel
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial abnormalities in inclusion body myositis2011
Rebecca Say
Professor Roger Whittaker
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al.
Mitochondrial disease in pregnancy: a systematic review2011
Anna Butterworth
Dr Andrew Morris
Professor Robert Taylor
Mitochondrial DNA depletion syndrome due to mutations in the MPV17 gene2011
Sally Spendiff
Professor Rita Horvath
Professor Hanns Lochmuller
Dr Mojgan Reza
Dr Julie Murphy
et al.
Mitochondrial DNA mutations in satellite cells2011
Dr Victoria Nesbitt
Professor Roger Whittaker
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
Professor Robert Taylor
et al.
mtDNA disease for the neurologist2011
Professor Peter Thelwall
Professor Robert Taylor
Emerita Professor Sally Marshall
Non-invasive Investigation of Kidney Disease in Type 1 Diabetes by Magnetic Resonance Imaging2011
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 deficiency2011
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 fibroblasts2011
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 loss2011
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 mutations2011
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 mutations2011
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 deletions2011
Professor Bobby McFarland
Professor Robert Taylor
The relationship between the pyruvate dehydrogenase complex and the mitochondrial respiratory chain2011
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 bronchiectasis2011
Thiloka Ratnaike
Kim Krishnan
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Why does mitochondrial disease progress? From molecular genetics to patient phenotype2011
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
A neurological perspective on mitochondrial disease2010
Dr Charlotte Alston
Professor Rita Horvath
Professor Robert Taylor
A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy2010
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 diagnosis2010
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 muscle2010
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 crypts2010
Dr John Yarham
Dr Joanna Elson
Dr Charlotte Alston
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
et al.
Assigning pathogenicity to mitochondrial tRNA gene mutations2010
Dr 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 crypts2010
Dr 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 crypts2010
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Developmental and Pathological Changes in the Human Cardiac Muscle Mitochondrial DNA Organization, Replication and Copy Number2010
Dr Vanessa Hogan
Dr Langping He
Professor Zofia Chrzanowska-Lightowlers
Professor Robert Taylor
Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy2010
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 women2010
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 cells2010
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 axons2010
Professor Rita Horvath
Dr Helen Tuppen
Dr 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 family2010
Professor Robert Taylor
Isolated Distal Myopathy of the Upper Limbs Associated With Mitochondrial DNA Depletion and Polymerase gamma Mutations2010
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 mutation2010
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 mutation2010
Dr 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 CPEO2010
Dr Helen Tuppen
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Mitochondrial DNA mutations and human disease2010
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- Rigidity2010
Dr John Yarham
Dr Joanna Elson
Professor Bobby McFarland
Professor Robert Taylor
Mitochondrial tRNA mutations and disease2010
Dr Patrick Yu Wai Man
Philip Griffiths
Professor Grainne Gorman
Professor Roger Whittaker
Dr Mark Baker
et al.
Multi-system neurological disease is common in patients with OPA1 mutations2010
Professor Bobby McFarland
Professor Rita Horvath
Professor Robert Taylor
Next generation genetic diagnosis of metabolic disorders2010
Professor Robert Taylor
Novel mitrochondrial trna mutation associated with migraine, pigmentary retinopathy, leukoencephalopathy and sensorineural deafness2010
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 disease2010
Professor Robert Taylor
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation2010
Dr Patrick Yu Wai Man
Dr Gillian Borthwick
Dr Langping He
Geoffrey Taylor
Dr Laura Greaves
et al.
Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles2010
Jenny Scott
Professor Robert Taylor
Professor David Young
Superoxide dismutase 2 downregulation and mitochondria respiration in osteoarthritis2010
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 disease2010
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 adPEO2010
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 cells2010
Professor Robert Taylor
Dr Charlotte Alston
The m.3291 T > C mtDNA mutation causes Ekbom's syndrome: expanding the clinical and genetic phenotype2010
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 families2010
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 phenotype2010
Dr Patrick Yu Wai Man
Philip Griffiths
Dr Ailbhe Burke
Michael Clarke
Dr Gavin Hudson
et al.
The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations2010
Vivienne Neeve
Dr 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
Dr Laura Greaves
Professor Patrick Chinnery
et al.
A Methodological Approach to Tracing Cell Lineage in Human Epithelial Tissues2009
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 Features2009
Dr Charlotte Alston
Professor Rita Horvath
Professor Robert Taylor
A novel heteroplasmic mitochondrial MT-ND5 frameshift mutation causing isolated paediatric complex I deficiency2009
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 report2009
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 deletions2009
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 patients2009
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Bilateral hypertrophic olivary degeneration on MRI in two patients with POLG1 mutations2009
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 disease2009
Professor Robert Taylor
Exaggerated status of novel and pathogenic mtDNA sequence variants due to inadequate database searches2009
Dr Hazel Powell
Martina Leopizzi
Professor Robert Taylor
Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations2009
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 mutation2009
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Dr Laura Greaves
Professor Patrick Chinnery
Locating the Stem Cell Niche and Tracing Hepatocyte Lineages in Human Liver2009
Professor Robert Taylor
Mitogen-Activated Protein Kinases and Regulation of Mitochondrial Biogenesis in Human Cardiomyopathies2009
Professor Robert Taylor
Mitogen-Activated Protein Kinases and Regulation of Mitochondrial Biogenesis in Human Cardiomyopathies2009
Dr 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
Dr Gavin Hudson
Dr Angela Pyle
Dr Paul Smith
et al.
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy2009
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 genomes2009
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 segregation2009
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 Mutation2009
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 muscle2009
Dr Helen Tuppen
Professor Bobby McFarland
Professor Robert Taylor
Dr Andrew Morris
The Biochemical and Molecular Genetic Aetiology of Leigh Syndrome2009
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 neurons2009
Professor Robert Taylor
Two Cases with Progressive Cystic Leukoencephalopathy2009
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 Mutation2009
Joanna Stewart
Dr Gavin Hudson
Dr Patrick Yu Wai Man
Professor Rita Horvath
Philip Griffiths
et al.
OPA1 in multiple mitochondrial DNA deletion disorders2008
Professor Robert Taylor
Dr 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 ophthalmoplegia2008
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 Acidosis2008
Professor Robert Taylor
A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance2008
Joanna Stewart
Professor Robert Taylor
Professor Patrick Chinnery
Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma2008
Dr Mazhor Aldosary
Professor Robert Taylor
Comparative human mitochondrial genome analysis using the Affymetrix MitoChip and conventional cycle sequencing2008
Professor Robert Taylor
Comparative human mitochondrial genome analysis using the affymetrix Mitochip v2 and conventional cycle sequencing2008
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 nose2008
Dr Helen Tuppen
Fabiana Fattori
Professor Bobby McFarland
Professor Robert Taylor
Further pitfalls in the diagnosis of mtDNA mutations: Homoplasmic mt-tRNA mutations2008
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 dysferlinopathy2008
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 mutation2008
Professor Robert Taylor
Identification of novel and recurrent mitochondrial DNA mutations in paediatric onset mitochondrial disease using the mitochip resequencing array2008
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
Dr 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 Cells2008
Dr Andrew Schaefer
Professor Bobby McFarland
Professor Patrick Chinnery
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al.
Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply2008
Dr 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 maintenance2008
Joanna Stewart
Dr Gavin Hudson
Professor Robert Taylor
Professor Patrick Chinnery
Mutations in POLG1 can present with autosomal recessive axonal Charcot-Marie-Tooth disease2008
Adillah Binti Yusof
Dr Julie Murphy
Dr Gavin Hudson
Emeritus Professor Doug Turnbull
Professor Robert Taylor
et al.
Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy2008
Joanna Stewart
Dr Angela Pyle
Emeritus Professor Mike Sir Michael Rawlins
Dr 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 mutation2008
Joanna Stewart
Dr Gavin Hudson
Professor Robert Taylor
Professor Patrick Chinnery
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease2008
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 mutation2008
Dr Andrew Schaefer
Professor Bobby McFarland
Professor Roger Whittaker
Professor Robert Taylor
Professor Patrick Chinnery
et al.
Prevalence of mitochondrial DNA disease in adults2008
Dr Pierre Boesch
Professor Robert Taylor
Professor Robert Lightowlers
Progress and prospects: Gene therapy for mitochondrial DNA disease2008
Dr Andrew Schaefer
Professor Roger Whittaker
Professor Bobby McFarland
Professor Patrick Chinnery
Professor Robert Taylor
et al.
Reply2008
Dr Julie Murphy
Dr Andrew Schaefer
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Resistance training in patients with single, large-scale deletions of mitochondrial DNA2008
Professor Bobby McFarland
Dr 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 myopathy2008
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 perspective2008
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 outcome2008
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 cells2007
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 FEATURES2007
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 MRI2007
Dr Denise Kirby
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Biochemical Assays of Respiratory Chain Complex Activity2007
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 spectroscopy2007
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 mutation2007
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 Disorders2007
Dr Andrew Morris
Rachel Appleton
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy2007
Professor Bobby McFarland
Professor Patrick Chinnery
Dr Andrew Schaefer
Dr Andrew Morris
Sharon Foster
et al.
Homoplasmy, heteroplasmy, and mitochondrial dystonia2007
Professor Robert Taylor
Induction of mitochondrial biogenesis is a maladaptive mechanism in cardiac remodeling2007
Professor Robert Taylor
Induction of Mitochondrial Biogenesis Is a Maladaptive Mechanism in Mitochondrial Cardiomyopathies2007
Professor Robert Taylor
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Investigation of metabolic myopathies2007
Geoffrey Taylor
Professor Pamela Shaw
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Investigation of the mitochondrial genome in patients with atypical motor neuron disease2007
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 therapy2007
Emeritus Professor Doug Turnbull
Professor Robert Taylor
MELAS associated with mutations in the POLG1 gene2007
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial disease - Its impact, etiology, and pathology2007
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial Disease-Its Impact, Etiology, and Pathology2007
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial DNA Transcription: Regulating the Power Supply2007
Dr 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 Parkinsonism2007
Dr 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 parkinsonism2007
Dr 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
Dr Gavin Hudson
Professor Patrick Chinnery
Nuclear gene mutations impacting mitochondrial genome maintenance2007
Professor Roger Whittaker
Dr Andrew Schaefer
Professor Bobby McFarland
Professor Robert Taylor
Professor Mark Walker
et al.
Prevalence and progression of diabetes in mitochondrial disease2007
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 mutation2007
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach2007
Professor Robert Taylor
Emeritus Professor John Davison
Type 1 diabetes and pregnancy2007
Professor Patrick Chinnery
Dr 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 mutations2006
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 adults2006
Professor Patrick Chinnery
Professor Robert Taylor
A case of progressive neuronal degeneration of childhood with severe mitochondrial respiratory chain deficiencies2006
Emeritus Professor Doug Turnbull
Professor Robert Taylor
A novel mitochondrial DNA tRNA gene mutation in a family with mitochondrial encephalopathy2006
Professor Robert Taylor
Emeritus Professor Doug Turnbull
An unusual case of congenital muscular dystrophy with mitochondrial structural abnormalities2006
Professor Robert Taylor
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma2006
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 deletions2006
Dr Julie Murphy
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Fatal mitochondrial DNA depletion myopathy due to novel mutations in the TK2 gene2006
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 disease2006
Dr Ramesh Arasaradnam
Dr 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
Dr 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 fission2006
Dr Laura Greaves
Professor Robert Taylor
Mitochondrial DNA mutations in human disease2006
Dr Samir Gupta
Dr Jonathan Wyllie
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Mitochondrial respiratory chain defects and developmental diaphragmatic dysfunction in the neonatal period2006
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 involvement2006
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Monoclonal conversion in human gastric glands: Insights into stem cell and clonal architecture2006
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Monoclonal conversion of human gastric glands provides insights into stem cell and clonal architecture2006
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 tRNAlle mutation2006
Dr Steve Durham
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia2006
Dr Helen Swalwell
Professor Robert Taylor
Novel mitochondrial transfer RNAPhe gene mutation associated with late-onset neuromuscular disease2006
Professor Rita Horvath
Dr Gavin Hudson
Professor Hanns Lochmuller
Professor Bobby McFarland
Dr Vankateswara Ramesh
et al.
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene2006
Dr 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 deletions2006
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 variants2006
Dr Helen Swalwell
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Pure myopathy associated with a novel mitochondrial tRNA gene mutation2006
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 acidosis2006
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 arginine2006
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 future2006
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 yeast2005
Dr Gavin Hudson
Professor Robert Taylor
Professor Patrick Chinnery
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia2005
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations2005
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 myopathy2005
Professor Robert Taylor
False-positive diagnosis of a single, large-scale mitochondrial DNA deletion by southern blot analysis: The role of neutral polymorphisms2005
Professor Robert Taylor
Gene therapy for the treatment of mitochondrial DNA disorders2005
Emeritus Professor Doug Turnbull
Professor Robert Taylor
LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation2005
Dr Andrew Advani
Professor Robert Taylor
Life-threatening hypokalaemia on a low-carbohydrate diet associated with previously undiagnosed primary hypoaldosteronism2005
Professor Mark Walker
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial diabetes2005
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial DNA mutations in human disease2005
Dr Andrew Schaefer
Philip Griffiths
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis2005
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 progression2005
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 myopathy2005
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 syndrome2004
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 rhabdomyolysis2004
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 enough2004
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 enough2004
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 gene2004
Professor Bobby McFarland
Professor Robert Taylor
Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation2004
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 Deficiency2004
Dr Martin Barron
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Endurance training in patients with single, large-scale mtDNA deletions: molecular genetic studies2004
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 Mutation2004
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 implications2004
Professor Robert Taylor
Professor Patrick Chinnery
Professor Robert Lightowlers
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
et al.
Mitochondrial DNA deletion in "identical" twin brothers2004
Dr Langping He
Professor Robert Taylor
Professor Patrick Chinnery
Professor Robert Lightowlers
Dr Andrew Schaefer
et al.
Mitochondrial DNA deletion in identical twins2004
Professor Robert Taylor
Dr Langping He
Dr Laura Greaves
Geoffrey Taylor
Dr Martin Barron
et al.
Mitochondrial DNA mutations in human colonic crypt stem cells2004
Dr Laura Greaves
Dr Martin Barron
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Mitochondrial DNA mutations in human colonic crypt stem cells - implications for function2004
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 MELAS2004
Dr Denise Kirby
Professor Robert Taylor
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency2004
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 mutation2004
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 cells2004
Dr Andrew Schaefer
Dr Martin Barron
Philip Griffiths
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al.
Ophthalmoplegia: When all the tests are negative2004
Professor Bobby McFarland
Professor Robert Taylor
Dr Joanna Elson
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
et al.
Proving pathogenicity: When evolution is not enough2004
Professor Patrick Chinnery
Professor Hanns Lochmuller
Professor Rita Horvath
Professor Robert Taylor
Professor John Matthews
et al.
Risk of developing a mitochondrial DNA deletion disorder2004
Dr 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 mosaicism2004
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 tRNASer(UCN) gene2004
Dr Gunther Ross
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Robert Lightowlers
Strategies for treating disorders of the mitochondrial genome2004
Professor Robert Taylor
Dr Andrew Schaefer
Dr Martin Barron
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
et al.
The diagnosis of mitochondrial muscle disease2004
Dr Andrew Schaefer
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
The epidemiology of mitochondrial disorders - past, present and future2004
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 disorder2004
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 cardiomyopathy2003
Emeritus Professor Doug Turnbull
Professor Robert Taylor
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia2003
Professor Zofia Chrzanowska-Lightowlers
Dr Morteza Pourfarzam
Professor Robert Taylor
Emeritus Professor Doug Turnbull
A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency2003
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 impaired2003
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 disease2003
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 disease2003
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 deficiency2003
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 mutation2003
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy2003
Dr Brian Bigger
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Robert Lightowlers
Gene therapy for mitochondrial DNA disorders2003
Professor Robert Taylor
Professor Patrick Chinnery
Geoffrey Taylor
Emeritus Professor Doug Turnbull
Genotypes from patients indicate no paternal mitochondrial DNA contribution2003
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 paraparesis2003
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA2003
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 cells2003
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 cells2003
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 leukaemia2003
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 therapy2003
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 myopathy2002
Professor Robert Taylor
Blood pressure and cardiovascular risk in the HOPE study2002
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Professor Bobby McFarland
Dr Andrew Schaefer
Defects of the mitochondrial genome2002
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 PCR2002
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 metabolism2002
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 BCS1L2002
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 DNA2002
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 paraparesis2002
Professor Robert Taylor
Dr Andrew Morris
Dr Michael Hutchinson
Emeritus Professor Doug Turnbull
Leigh disease associated with a novel mitochondrial DNA ND5 mutation2002
Dr Andrew Schaefer
Professor Robert Taylor
Professor Patrick Chinnery
Mitochondrial disease and symptom progression: A complex management issue2002
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 sclerosis2002
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 deafness2002
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 mutation2002
Dr Peter Carey
Professor Robert Taylor
Post-prandial substrate storage in Type 2 diabetes2002
Dr Ranjeet Pandit
Professor Robert Taylor
Quality Assurance in eye screening2002
Dr Ranjeet Pandit
Professor Robert Taylor
Quality assurance in screening for sight-threatening diabetic retinopathy2002
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
The neurology of mitochondrial DNA disease2002
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 disorders2001
Professor Robert Taylor
Dr Rajinder Singh-Kler
Christine Hayes
Emeritus Professor Doug Turnbull
Annals 25th anniversary2001
Paul Counter
Dr Theresa Wardell
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect2001
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 defect2001
Emeritus Professor Doug Turnbull
Professor Robert Lightowlers
Professor Robert Taylor
Current perspectives in the treatment of mitochondrial DNA diseases2001
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 templates2001
Professor Robert Taylor
Dr Theresa Wardell
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
Molecular basis for treatment of mitochondrial myopathies2001
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 gene2001
Professor Robert Lightowlers
Professor Robert Taylor
Targeting large molecules to mitochondria2001
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 disease2001
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 mutations2001
Professor Robert Taylor
Emeritus Professor Doug Turnbull
The mitochondrial genome and mitochondrial muscle disorders2001
Professor Robert Taylor
Dr Theresa Wardell
Dr Gillian Borthwick
Dr Elizabeth Brierley
Emeritus Professor Doug Turnbull
et al.
Analysis of Mitochondrial DNA Mutations2000
Professor Robert Taylor
Dr Richard Andrews
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Analysis of mitochondrial DNA mutations: point mutations2000
Professor Robert Taylor
Professor Patrick Chinnery
Professor Robert Lightowlers
In-vitro genetic modification of mitochondrial function2000
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 gene2000
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 bodies2000
Professor Robert Taylor
Dr Theresa Wardell
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
Molecular basis for treatment of mitochondrial myopathies2000
Professor Patrick Chinnery
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Robert Lightowlers
Peptide nucleic acid and delivery to human mitochondria2000
Professor Patrick Chinnery
Dr Margaret Johnson
Dr Theresa Wardell
Dr Rajinder Singh-Kler
Professor Robert Taylor
et al.
The epidemiology of pathogenic mitochondrial DNA mutations2000
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 Encephalomyopathy1999
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 encephalomyopathy1999
Professor Robert Taylor
Dr Richard Andrews
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Analysis of Mitochondrial DNA mutations1999
Professor Patrick Chinnery
Professor Mark Walker
Professor Robert Taylor
Professor Robert Lightowlers
Professor Laurence Bindoff
et al.
Nonrandom tissue distribution of mutant mtDNA1999
Professor Patrick Chinnery
Professor Mark Walker
Professor Robert Taylor
Professor Robert Lightowlers
Professor Laurence Bindoff
et al.
Non-random tissue distribution of mutant mtDNA1999
Professor Patrick Chinnery
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Robert Lightowlers
Peptide nucleic acid delivery to human mitochondria1999
Professor Patrick Chinnery
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Robert Lightowlers
Peptide nucleic acid delivery to human mitochondria1999
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 sclerosis1998