Publications by Professor Bobby McFarland - ePrints

Browsing publications by Professor Bobby McFarland.

Newcastle Authors	Title	Year
Dr Angela Pyle Dr Fiona Robertson Professor Robert Taylor Professor Bobby McFarland	Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion	2024
Professor Bobby McFarland Professor Robert Taylor Krutik Patel Dr Mahmoud Fassad	Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study	2024
Professor Robert Taylor Professor Bobby McFarland Dr Anita Devlin	De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke	2024
Dr Sarah Pickett Professor Robert Taylor Professor Bobby McFarland	Fit for purpose: Selecting the best mitochondrial DNA for the job	2024
Katrin Bangel Dr Albert Lim Dr Alasdair Blain Dr Yi Ng Amy Winder et al.	TRANscranial direct current stimulation for FOcal Refractory epilepsy in mitochondrial disease (TRANSFORM): delayed-start, randomised, double-blinded, placebo-controlled study	2024
Dr Jill Cadwgan Dr Jane Goodwin Professor Jeremy Parr Professor Bobby McFarland Dr Catherine Tuffrey et al.	UK research priority setting for childhood neurological conditions	2024
Dr Laura Alexandra Smith Dr Chun Chen Dr Nichola Lax Professor Robert Taylor Dr Daniel Erskine et al.	Astrocytic pathology in Alpers’ syndrome	2023
Dr Yi Ng Professor Bobby McFarland	Mitochondrial encephalomyopathy	2023
Dr William Macken Dr Mahmoud Fassad Dr Fei Gao Krutik Patel Dr Ana Topf et al.	Neuromuscular disease genetics in under-represented populations: increasing data diversity	2023
Dr Mahmoud Fassad Dr Katja Menger Sila Hopton Gavin Falkous Professor Bobby McFarland et al.	Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability	2023
Dr Alaa Abouhajar Dr Lisa Alcock Dr Theophile Bigirumurame Penny Bradley Laura Brown et al.	Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy	2022
Ahmad Alahmad Dr Angela Pyle Professor Bobby McFarland Professor Robert Taylor	Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement	2022
Dr Kyle Thompson Professor Bobby McFarland Professor Robert Taylor	Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease	2022
Dr Anna Basu Dr Rob Forsyth Professor Bobby McFarland Dr Ki Pang Dr Henriette van Ruiten et al.	Chickenpox and stroke - joining the dots	2022
Dr Chiara Pizzamiglio Dr Rhys Thomas Professor Grainne Gorman Professor Bobby McFarland Professor Michael Hanna et al.	COVID-19-Related Outcomes in Primary Mitochondrial Diseases: An International Study	2022
Dr Laura Alexandra Smith Dr Daniel Erskine Dr Alasdair Blain Professor Robert Taylor Professor Bobby McFarland et al.	Delineating selective vulnerability of inhibitory interneurons Alpers' syndrome.	2022
Dr Yi Ng Dr Nichola Lax Dr Alasdair Blain Dr Daniel Erskine Professor Mark Baker et al.	Forecasting stroke-like episodes and outcomes in mitochondrial disease	2022
Ahmad Alahmad Professor Robert Taylor Professor Bobby McFarland	Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency	2022
Dr Renae Stefanetti Dr Yi Ng Linda Errington Dr Alasdair Blain Professor Bobby McFarland et al.	l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes	2022
Professor Bobby McFarland	Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant	2022
Dr Albert Lim Dr Yi Ng Dr Alasdair Blain Dr Cecilia Jimenez Moreno Dr Charlotte Alston et al.	Natural History of Leigh Syndrome: A Study of Disease Burden and Progression	2022
Dr Jack Collier Dr Oliver Russell Dr Charlotte Alston Professor Bobby McFarland Professor Robert Taylor et al.	Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms	2022
Dr Helen Devine Dr Yi Ng Professor Bobby McFarland Professor Grainne Gorman	Ophthalmological involvement in m.3243A>G-related mitochondrial disease	2022
Dr David Houghton Dr Yi Ng Dr Renae Stefanetti Paula Hynd Professor Christopher Stewart et al.	Phase II feasibility study of the efficacy, tolerability and impact on the gut microbiome of a low residue (fibre) diet in adult patients with mitochondrial disease	2022
Chris Hatton Dr David Koss Dr Lauren Walker Professor Tiago Outeiro Professor Johannes Attems et al.	Prion-like α-synuclein pathology in the brain of infants with Krabbe disease	2022
Professor Grainne Gorman Professor Rita Horvath Dr Richard Quinton Dr Andrew Schaefer Dr Patrick Yu Wai Man et al.	100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report	2021
Professor Bobby McFarland Professor Robert Taylor	2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA	2021
Professor Laurence Bindoff Professor Grainne Gorman Professor Bobby McFarland Dr Yi Ng Dr Robert Pitceathly et al.	Comment on “A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome”	2021
Dr Rory Tinker Dr Albert Lim Dr Renae Stefanetti Professor Bobby McFarland	Current and emerging clinical treatment in mitochondrial disease	2021
Jack Collier Dr Monika Olahova Dr Nuria Martinez Lopez Dr Tuomo Polvikoski Dr Andrew Schaefer et al.	Developmental consequences of defective Atg7-mediated autophagy in humans	2021
Dr Yi Ng Professor Laurence Bindoff Professor Grainne Gorman Professor Bobby McFarland Professor Robert Taylor et al.	Mitochondrial disease in adults: recent advances and future promise	2021
Dr Albert Lim Dr Daniel Jones Dr Matt Bates Dr Andrew Schaefer Dr John O'Sullivan et al.	Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects	2021
Professor Bobby McFarland Professor Robert Taylor	The Effect of tRNA^[Ser]Sec Isopentenylation on Selenoprotein Expression	2021
Dr Uwe Richter Professor Bobby McFarland Professor Robert Taylor Dr Sarah Pickett	The molecular pathology of pathogenic mitochondrial tRNA variants	2021
Professor Bobby McFarland	Toning up but powering down: does mitochondrial dysfunction lead to loss of ambulation in cerebral palsy?	2021
Dr Albert Lim Dr Grace McMacken Francesca Rastelli Dr Monika Olahova Karen Baty et al.	A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features	2020
Ahmad Alahmad Dr Kyle Thompson Dr Monika Olahova Dr Langping He Dr Charlotte Alston et al.	Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I	2020
Dr Charlotte Alston Marie Appleton Dr Yi Ng Professor Grainne Gorman Professor Bobby McFarland et al.	Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion	2020
Catherine Feeney Professor Grainne Gorman Dr Renae Stefanetti Professor Bobby McFarland Emeritus Professor Doug Turnbull et al.	Lower urinary tract dysfunction in adult patients with mitochondrial disease	2020
Dr Renae Stefanetti Dr Alasdair Blain Dr Cecilia Jimenez Moreno Linda Errington Dr Yi Ng et al.	Measuring the effects of exercise in neuromuscular disorders: A systematic review and meta-analyses [version 1; peer review: 2 approved]	2020
Dr Charlotte Alston Lucie Taylor Dr Langping He Sila Hopton Professor Bobby McFarland et al.	Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency	2020
Dr Kyle Thompson Jack Collier Ruth Glasgow Dr Fiona Robertson Dr Angela Pyle et al.	Recent advances in understanding the molecular genetic basis of mitochondrial disease	2020
Professor Bobby McFarland Professor Robert Taylor	SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey	2020
Millie Fullerton Professor Bobby McFarland Professor Robert Taylor Dr Charlotte Alston	The genetic basis of isolated mitochondrial complex II deficiency	2020
Dr Charlotte Alston Professor Bobby McFarland Professor Robert Taylor	The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant	2020
Dr Charlotte Alston Professor Grainne Gorman Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging	2020
Catherine Feeney Dr Albert Lim Dr Alasdair Blain Alexandra Bright Professor Robert Taylor et al.	A case‐comparison study of pregnant women with mitochondrial disease – what to expect?	2019
Dr Albert Lim Karen Baty Dr Langping He Sila Hopton Gavin Falkous et al.	A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes	2019
Dr Heather Moore Dr Thomas Kelly Alexandra Bright Dr Andrew Schaefer Dr Alasdair Blain et al.	Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: Importance of correcting for baseline intellectual ability	2019
Sunitha Balaraju Dr Ana Topf Dr Grace McMacken Professor Robert Taylor Professor Rita Horvath et al.	Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant	2019
Professor Bobby McFarland Professor Robert Taylor	Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions	2019
Professor Patrick Chinnery Professor Rita Horvath Professor Bobby McFarland Dr Victoria Nesbitt Dr Hannah Steele et al.	Diagnosis of 'possible' mitochondrial disease: an existential crisis	2019
Dr Hannah Hayhurst Maria Anagnostou Helen Bogle Dr John Grady Professor Robert Taylor et al.	Dissecting the neuronal vulnerability underpinning Alpers' syndrome: A clinical and neuropathological study	2019
Dr Ewen Sommerville Dr Monika Olahova Dr Angela Pyle Dr Langping He Professor Bobby McFarland et al.	Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy	2019
Dr Hannah Hayhurst Charlotte Alston Dr Kyle Thompson Dr Langping He Sila Hopton et al.	Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis	2019
Dr Sarah Pickett Dr Alasdair Blain Dr Yi Ng Dr Ian Wilson Professor Robert Taylor et al.	Mitochondrial donation - Which women could benefit?	2019
Dr Luis Braz Dr Yi Ng Professor Grainne Gorman Professor Bobby McFarland Professor Robert Taylor et al.	Neuromuscular junction abnormalities in mitochondrial disease; an observational cohort study	2019
Dr Yi Ng Dr Mika Martikainen Professor Grainne Gorman Dr Alasdair Blain Dr Andrew Schaefer et al.	Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study	2019
Roisin Boggan Dr Albert Lim Professor Robert Taylor Professor Bobby McFarland Dr Sarah Pickett et al.	Resolving complexity in mitochondrial disease: Towards precision medicine	2019
Professor Bobby McFarland	Surveillance for variant CJD: Should more children with neurodegenerative diseases have autopsies?	2019
Dr Anna Basu Dr Alexandra Battersby Professor Bobby McFarland Dr Dipayan Mitra	Two cases of group A streptococcal associated cerebellitis	2019
Dr Yi Ng Dr Nichola Lax Dr Charlotte Alston Philippa Hepplewhite Professor Patrick Chinnery et al.	MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load	2018
Dr Kyle Thompson Dr Monika Olahova Dr Filippo Scialo Dr Nichola Lax Dr Fiona Robertson et al.	OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect	2018
Dr Monika Olahova Dr Kyle Thompson Professor Bobby McFarland Professor Robert Taylor	Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder	2018
Dr Charlotte Alston Lucie Taylor Ruth Glasgow Professor Bobby McFarland Professor Robert Taylor et al.	Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency	2018
Dr Francesco Bruni Professor Bobby McFarland Professor Zofia Chrzanowska-Lightowlers Dr Langping He Professor Robert Taylor et al.	Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease	2018
Dr Charlotte Alston Dr Ki Pang Professor Bobby McFarland Professor Robert Taylor	Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion	2018
Professor Grainne Gorman Professor Bobby McFarland Dr Jane Stewart Catherine Feeney Emeritus Professor Doug Turnbull et al.	Mitochondrial donation: from test tube to clinic	2018
Dr John Grady Dr Sarah Pickett Dr Yi Ng Catherine Feeney Dr Andrew Schaefer et al.	mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease	2018
Dr Kyle Thompson Professor Bobby McFarland Professor Robert Taylor	Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy	2018
Dr Cecilia Jimenez Moreno Professor Bobby McFarland	Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop	2018
Dr Mariana Rocha Hannah Rosa Dr John Grady Dr Langping He Jane Newman et al.	Pathological mechanisms underlying single large-scale mitochondrial DNA deletions	2018
Dr Sarah Pickett Dr John Grady Dr Yi Ng Professor Grainne Gorman Dr Andrew Schaefer et al.	Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors	2018
Professor Robert Taylor Professor Bobby McFarland Professor Grainne Gorman Dr Ewen Sommerville Professor Patrick Chinnery et al.	Retrospective natural history of thymidine kinase 2 deficiency	2018
Dr Julie Murphy Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Grainne Gorman Professor Bobby McFarland et al.	Scientific and Ethical Issues in Mitochondrial Donation	2018
Dr Yi Ng Dr Henriette van Ruiten Dr Vankateswara Ramesh Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease	2018
Professor Rita Horvath Professor Bobby McFarland Professor Robert Taylor	The genotypic and phenotypic spectrum of MTO1 deficiency	2018
Dr Yi Ng Professor Bobby McFarland	RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection	2017
Dr Ewen Sommerville Dr Yi Ng Dr Charlotte Alston Dr Langping He Charlotte Knowles et al.	Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy	2017
Dr Patrick Yu Wai Man Professor Bobby McFarland	Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project	2017
Ewen Sommerville Dr Charlotte Alston Dr Angela Pyle Dr Langping He Gavin Falkous et al.	De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities	2017
Dr Charlotte Alston Charlotte Knowles Professor Robert Taylor Professor Bobby McFarland	De novo mtDNA point mutations are common and have a low recurrence risk	2017
Dr Mika Martikainen Dr John Grady Dr Yi Ng Dr Charlotte Alston Professor Grainne Gorman et al.	Decreased male reproductive success in association with mitochondrial dysfunction	2017
Dr Charalampos Tzoulis Professor Bobby McFarland	Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease	2017
Professor Bobby McFarland Professor Laurence Bindoff Professor Grainne Gorman Professor Rita Horvath Emeritus Professor Doug Turnbull et al.	International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy	2017
Ruth Glasgow Dr Kyle Thompson Dr Langping He Dr Charlotte Alston Professor Bobby McFarland et al.	Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits	2017
Dr Monika Olahova Dr Kyle Thompson Dr Steven Hardy Maria-Eleni Anagnostou Dr Kathryn White et al.	Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria	2017
Professor Bobby McFarland	The presence of anaemia negatively influences survival in patients with POLG disease	2017
Professor Robert Taylor Professor Bobby McFarland	Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors	2017
Syeda Ahmed Charlotte Alston Sila Hopton Dr Langping He Gavin Falkous et al.	Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency	2017
Mika Martikainen Dr Yi Ng Professor Grainne Gorman Dr Charlotte Alston Dr Andrew Schaefer et al.	Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease	2016
Dr Langping He Professor Bobby McFarland Professor Robert Taylor	Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: A case report	2016
Maria Anagnostou Dr Yi Ng Professor Robert Taylor Professor Bobby McFarland	Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review	2016
Professor Bobby McFarland Professor Robert Taylor	Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure	2016
Professor Bobby McFarland	International Paediatric Mitochondrial Disease Scale	2016
Professor Grainne Gorman Professor Patrick Chinnery Professor Bobby McFarland Emeritus Professor Doug Turnbull	Mitochondrial diseases	2016
Professor Grainne Gorman Professor Bobby McFarland	Nutritional interventions in primary mitochondrial disorders: Developing an evidence base	2016
Dr Yi Ng Catherine Feeney Dr Andrew Schaefer Paula Hynd Dr Charlotte Alston et al.	Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination	2016
Dr Kyle Thompson Dr Charlotte Alston Dr Langping He Dr Angela Pyle Dr Helen Griffin et al.	Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies	2016
Dr Kyle Thompson Dr Charlotte Alston Dr Langping He Professor Bobby McFarland Professor Robert Taylor et al.	Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number	2016
Dr Yi Ng Professor Grainne Gorman Professor Bobby McFarland	Solid organ transplantation in primary mitochondrial disease: Proceed with caution	2016
Dr Yi Ng Professor Grainne Gorman Professor Bobby McFarland	Solid organ transplantation in primary mitochondrial disease: Proceed with caution	2016
Professor Bobby McFarland Professor Robert Taylor	Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients	2016
Dr Yi Ng Dr John Grady Dr Nichola Lax Dr John Bourke Dr Charlotte Alston et al.	Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults	2016
Dr Charlotte Alston Professor Bobby McFarland Professor Robert Taylor	Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2	2016
Dr Yi Ng Dr Charlotte Alston Dr Daria Diodato Professor Robert Taylor Professor Bobby McFarland et al.	The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease	2016
Dr Amy Vincent Dr Yi Ng Dr Kathryn White Tracey Davey Gavin Falkous et al.	The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy	2016
Dr Monika Olahova Dr Steven Hardy Dr John Yarham William Wilson Dr Charlotte Alston et al.	LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population	2015
Dr Yi Ng Professor Roger Whittaker Professor Bobby McFarland Emeritus Professor Doug Turnbull Professor Grainne Gorman et al.	A clinical audit of acute management of stroke-like episodes from a national mitochondrial disease centre	2015
Dr Charlotte Alston Dr Monika Olahova Dr Langping He Professor Bobby McFarland Professor Robert Taylor et al.	A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency	2015
Dr Monika Olahova Dr Charlotte Alston Jess Houghton Dr Langping He Dr Andrew Morris et al.	A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency	2015
Dr Francesco Bruni Professor Bobby McFarland Professor Robert Taylor	ABAT is a novel human mitochondrial DNA depletion syndrome gene linking gamma-aminobutyric acid (GABA) catabolism and mitochondrial nucleoside metabolism	2015
Professor Robert Taylor Professor Bobby McFarland	Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations	2015
Professor Grainne Gorman Dr Gerald Pfeffer Dr Helen Griffin Dr Marzena Kurzawa-Akanbi Jessica Gabriel et al.	Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28	2015
Dr Kyle Thompson Dr Steven Hardy Dr Langping He Professor Bobby McFarland Professor Robert Taylor et al.	Corrigendum to "Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations" [Front. Genet., 6 (2015) 102] DOI:10.3389/fgene.2015.00102	2015
Professor Roger Whittaker Professor Grainne Gorman Dr Andrew Schaefer Professor Rita Horvath Dr Yi Ng et al.	Epilepsy in Adults With Mitochondrial Disease: A Cohort Study	2015
Dr Kyle Thompson Dr Steven Hardy Dr Langping He Professor Bobby McFarland Professor Robert Taylor et al.	Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations	2015
Professor Grainne Gorman Dr John Grady Dr Yi Ng Dr Andrew Schaefer Dr Richard McNally et al.	Mitochondrial Donation: How Many Women Could Benefit?	2015
Dr Nichola Lax Dr Langping He Gavin Falkous Professor Bobby McFarland Professor Robert Taylor et al.	Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations	2015
Professor Grainne Gorman Dr Hue Hornig - Do Dr Helen Tuppen Professor Laura Greaves Dr Langping He et al.	Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression	2015
Professor Grainne Gorman Dr Joanna Elson Jane Newman Dr Brendan Payne Professor Bobby McFarland et al.	Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease	2015
Jane Newman Dr Brook Galna Professor Djordje Jakovljevic Dr Andrew Schaefer Professor Bobby McFarland et al.	Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease	2015
Professor Grainne Gorman Dr Andrew Schaefer Dr Yi Ng Dr Charlotte Alston Catherine Feeney et al.	Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease	2015
Dr Francesco Bruni Professor Bobby McFarland Professor Robert Taylor	The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism	2015
Dr Charlotte Alston Dr Robert Pitceathly Professor Bobby McFarland Dr Andrew Schaefer Emeritus Professor Doug Turnbull et al.	The urinary proteome and metabonome differ from normal in adults with mitochondrial disease	2015
Dr Yi Ng Dr Charlotte Alston Professor Rita Horvath Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	A genetic weakness - Phoenician legacy or Celtic heritage?	2014
Dr Victoria Nesbitt Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Bobby McFarland et al.	A national perspective on prenatal testing for rnitochondrial disease	2014
Dr John Yarham Dr Angela Pyle Dr Francesco Bruni Dr Langping He Dr Helen Griffin et al.	Defective i⁶A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and its Substrate tRNA	2014
Dr Brook Galna Jane Newman Professor Djordje Jakovljevic Dr Matthew Bates Dr Andrew Schaefer et al.	Discrete gait characteristics are associated with m.3243A > G and m.8344A > G variants of mitochondrial disease and its pathological consequences	2014
Dr John Grady Georgia Campbell Gavin Falkous Dr Victoria Nesbitt Dr Andrew Schaefer et al.	Disease progression in patients with single, large-scale mitochondrial DNA deletions	2014
Dr Robert Pitceathly Professor Bobby McFarland	Mitochondrial myopathies in adults and children: management and therapy development	2014
Abdulraheem Almalki Dr Charlotte Alston Dr Mojgan Reza Professor Robert Lightowlers Professor Bobby McFarland et al.	Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency	2014
Dr Gerald Pfeffer Professor Grainne Gorman Dr Helen Griffin Dr Marzena Kurzawa-Akanbi Dr Ian Wilson et al.	Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance	2014
Dr Charlotte Alston Emeritus Professor Doug Turnbull Dr Jane Stewart Professor Bobby McFarland Professor Robert Taylor et al.	PGD to prevent mitochondrial disease: embryological aspects	2014
Dr Lyndsey Butterworth Dr Laura Irving Dr Charlotte Alston Dr Emma Watson Professor Bobby McFarland et al.	Preimplantation genetic diagnosis for mitochondrial DNA disease	2014
Dr Yi Ng Dr Nichola Lax Dr Andrew Schaefer Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Sudden Unexpected Death in Adults with M.3243A>G Mutation	2014
Professor Robert Taylor Dr Angela Pyle Dr Helen Griffin Dr Jennifer Duff Dr Langping He et al.	Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies	2014
Dr Matthew Bates Jane Newman Professor Djordje Jakovljevic Dr Kieren Hollingsworth Professor Andrew Blamire et al.	Defining cardiac adaptations and safety of endurance training in patients with m.3243A>g-related mitochondrial disease	2013
Jane Newman Dr Brook Galna Professor Djordje Jakovljevic Dr Matthew Bates Dr Andrew Schaefer et al.	Evaluation of Functional Outcome Measures as a Surrogate Marker of Disease Severity in Patients with Mitochondrial Disease	2013
Dr Joanna Elson Mark Cadogan Professor Roger Whittaker Professor Mike Trenell Professor Rita Horvath et al.	Initial development and validation of a mitochondrial disease quality of life scale	2013
Dr John Yarham Dr Eve Cosgrave Dr Satomi Miwa Professor Bobby McFarland Professor Robert Taylor et al.	Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance	2013
Helen Bogle Dr Nichola Lax Dr Evelyn Jaros Professor Bobby McFarland Professor Robert Taylor et al.	Neuropathological changes in Alpers' syndrome	2013
Dr Gerald Pfeffer Professor Rita Horvath Professor Laurence Bindoff Dr Patrick Yu Wai Man Professor Michael Hanna et al.	New treatments for mitochondrial disease - no time to drop our standards	2013
Dr John Yarham Dr Charlotte Alston Kate Craig Dr Kirstie Anderson Emeritus Professor Doug Turnbull et al.	Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease	2013
Professor Bobby McFarland Dr Andrew Morris Professor Robert Taylor	SURF1 deficiency: a multi-centre natural history study	2013
Dr John Yarham Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	The m.3291T > C mt-tRNA^Leu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease	2013
Dr Victoria Nesbitt Dr Robert Pitceathly Dr Simon Cockell Professor Michael Hanna Professor Patrick Chinnery et al.	The Medical Research Council Neuromuscular Centre for Translational Research Mitochondrial Disease Patient Cohort Study UK: From Conceptualisation to Utilisation	2013
Dr Victoria Nesbitt Dr Robert Pitceathly Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Bobby McFarland et al.	The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management	2013
Anna Butterworth Dr Langping He Professor Bobby McFarland Professor Robert Taylor	MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle	2012
Dr John Yarham Professor Bobby McFarland Professor Robert Taylor Dr Joanna Elson	A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations	2012
Dr John Yarham Dr Joanna Elson Professor Robert Taylor Professor Bobby McFarland	A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations	2012
Dr Charlotte Alston Dr Langping He Kate Craig Dr Andrew Schaefer Professor Bobby McFarland et al.	Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics	2012
Dr Kieren Hollingsworth Professor Grainne Gorman Professor Mike Trenell Professor Bobby McFarland Professor Robert Taylor et al.	Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load	2012
Dr Nichola Lax Philippa Hepplewhite Dr Amy Reeve Dr Victoria Nesbitt Professor Bobby McFarland et al.	Cerebellar Ataxia in Patients With Mitochondrial DNA Disease: A Molecular Clinicopathological Study	2012
Professor Bobby McFarland	Cerebral folate deficiency-mishaps and misdirection	2012
Julia Tonge Professor Volker Straub Professor Hanns Lochmuller Emeritus Professor Doug Turnbull Professor Patrick Chinnery et al.	Clinical research activity in Newcastle MRC centre	2012
Dr Matt Bates Dr Victoria Nesbitt Dr Langping He Dr Charlotte Alston Dr Malcolm Brodlie et al.	Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: A prospective study	2012
Anna Butterworth Dr Langping He Professor Bobby McFarland Professor Robert Taylor	MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle	2012
Dr Helen Tuppen John Yarham Professor Robert Taylor Professor Bobby McFarland	Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy	2012
Dr Charlotte Alston Dr Langping He Gavin Falkous Professor Bobby McFarland Professor Robert Taylor et al.	Novel SDHA and SDHB mutations as a cause of isolated mitochondria! complex II deficiency	2012
Professor Roger Whittaker Emeritus Professor Nick Miller Sue Clark Professor Robert Taylor Professor Bobby McFarland et al.	Prevalence and severity of speech and swallowing difficulties in mitochondrial disease	2012
Dr Charlotte Alston Dr Hue Hornig - Do Professor Bobby McFarland Professor Robert Taylor	Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency	2012
Professor Bobby McFarland	SURF1 deficiency: Natural history study of a UK cohort	2012
Dr Victoria Nesbitt Dr Charlotte Alston Professor Bobby McFarland Professor Robert Taylor	The clinical spectrum of the m.10191T > C mutation in complex I-deficient Leigh syndrome	2012
Dr Victoria Nesbitt Dr Robert Pitceathly Dr Simon Cockell Professor Michael Hanna Emeritus Professor Doug Turnbull et al.	The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study UK: from conceptualisation to utilisation	2012
Dr Joanna Elson Dr John Yarham Professor Francois van der Westhuizen Dr Robert Pitceathly Professor Robert Taylor et al.	Towards a mtDNA locus-specific mutation database using the LOVD platform	2012
John Yarham Dr Charlotte Alston Professor Robert Taylor Dr Joanna Elson Professor Bobby McFarland et al.	A Comparative Analysis Approach to Determining the Pathogenicity of Mitochondrial tRNA Mutations	2011
Dr Victoria Nesbitt Dr Robert Pitceathly Professor Bobby McFarland Emeritus Professor Doug Turnbull	A3243G - more than just MELAS!	2011
Professor Bobby McFarland Dr Rob Forsyth	Autosomal dominant acute necrotising encephalopathy: A case report with possible disease-expression modification by coincidental homocysteinuria	2011
Dr Victoria Nesbitt Professor Kim Bartlett Professor Robert Taylor Professor Bobby McFarland	Congenital lactic acidosis and mitochondrial disease - when to suspect and how to manage	2011
Dr Victoria Nesbitt Dr Matt Bates Emeritus Professor Doug Turnbull Professor Bobby McFarland	Diabetes is a risk factor for hypertension in adults with the m.3243A > G mitochondrial DNA mutation	2011
Dr Victoria Nesbitt Professor Bobby McFarland	Diabetes is not a common feature in children with mtDNA disease	2011
Dr Charlotte Alston Dr Andrew Morris Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	Maternally inherited mitochondrial DNA disease in consanguineous families	2011
Rebecca Say Professor Roger Whittaker Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Mitochondrial disease in pregnancy: a systematic review	2011
Dr Victoria Nesbitt Professor Roger Whittaker Emeritus Professor Doug Turnbull Professor Bobby McFarland Professor Robert Taylor et al.	mtDNA disease for the neurologist	2011
Professor Bobby McFarland Dr Joanna Elson	Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression	2011
Dr Angela Pyle Vivienne Neeve Dr Helen Tuppen Professor Hanns Lochmuller Professor Bobby McFarland et al.	Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency	2011
Dr Thomas Cope Professor Bobby McFarland Dr Andrew Schaefer	Rapid-onset, linezolid-induced lactic acidosis in MELAS.	2011
Professor Robert Taylor Dr Helen Swalwell Dr Denise Kirby Emeritus Professor Doug Turnbull Professor Bobby McFarland et al.	Respiratory chain complex I deficiency caused by mitochondrial DNA mutations	2011
Dr Helen Swalwell Dr Denise Kirby Dr Anna Mitchell Emeritus Professor Doug Turnbull Professor Bobby McFarland et al.	Respiratory chain complex I deficiency caused by mitochondrial DNA mutations	2011
Dr Victoria Nesbitt Dr Robert Pitceathly Emeritus Professor Doug Turnbull Professor Bobby McFarland	The MRC Centre for Translational Research in Neuromuscular Disease: Mitochondrial Disease Patient Cohort Study UK	2011
Professor Bobby McFarland Professor Robert Taylor	The relationship between the pyruvate dehydrogenase complex and the mitochondrial respiratory chain	2011
Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	A neurological perspective on mitochondrial disease	2010
Dr John Yarham Dr Joanna Elson Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Bobby McFarland et al.	Assigning pathogenicity to mitochondrial tRNA gene mutations	2010
Professor Bobby McFarland	Depressive behaviour in children diagnosed with a mitochondrial disorder	2010
Dr Joanna Elson Mark Cadogan Professor Bobby McFarland Dr Roger Whittaker Professor Rita Horvath et al.	Development and validation of a mitochondrial disease-specific quality of life scale (Mito-QOL)	2010
Professor Rita Horvath Dr Helen Tuppen Professor Gavin Hudson Dr Angela Pyle Dr Paul Smith et al.	Infantile reversible COX deficiency myopathy caused by the m.14674T > C mutation in mt-tRNA(Glu) in a German family	2010
Dr Anna Basu Professor Bobby McFarland Emeritus Professor Doug Turnbull	Kearns-Sayre Syndrome	2010
Dr Helen Tuppen Professor Bobby McFarland Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation	2010
Dr Helen Tuppen Professor Bobby McFarland Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation	2010
Dr Jill Cadwgan Professor Roger Whittaker Professor Bobby McFarland	Mitochondrial diseases in childhood: a clinical approach to investigation and management	2010
Dr John Yarham Dr Joanna Elson Professor Bobby McFarland Professor Robert Taylor	Mitochondrial tRNA mutations and disease	2010
Dr Robert Pitceathly Dr Victoria Nesbitt Professor Bobby McFarland Emeritus Professor Doug Turnbull	MRC mitochondrial cohort study: development of a UK database	2010
Dr Patrick Yu Wai Man Philip Griffiths Professor Grainne Gorman Professor Roger Whittaker Professor Mark Baker et al.	Multi-system neurological disease is common in patients with OPA1 mutations	2010
Professor Bobby McFarland Professor Rita Horvath Professor Robert Taylor	Next generation genetic diagnosis of metabolic disorders	2010
Professor Bobby McFarland	The childhood presentation of mitochondrial disease	2010
Professor Bobby McFarland	The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study	2010
Dr Helen Tuppen Dr Vanessa Hogan Dr Langping He Dr Mazhor Aldosary Dr Gabriele Saretzki et al.	The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families	2010
Dr Charlotte Alston Professor Bobby McFarland Professor Rita Horvath Professor Robert Taylor	The pathogenic m.3243A > T mitochondrial DNA mutation is associated with a variable neurological phenotype	2010
Dr Anil Gholkar OBE Professor Bobby McFarland	Unilateral Horner's syndrome: An unusual childhood presentation	2010
Professor Bobby McFarland Professor Patrick Chinnery Professor Timothy Cheetham	Abnormal growth in mitochondrial disease	2009
Professor Bobby McFarland Emeritus Professor Doug Turnbull	Batteries not included: diagnosis and management of mitochondrial disease	2009
Professor Grainne Gorman Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Clinical Reasoning: Blurred vision and dancing feet Restless legs syndrome presenting in mitochondrial disease	2009
Professor Bobby McFarland	Do clinical features of mitochondrial diseases vary with the age at presentation? Findings of a UK-wide study	2009
Professor Rita Horvath Dr Helen Tuppen Professor Gavin Hudson Dr Angela Pyle Dr Paul Smith et al.	Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy	2009
Dr Mazhor Aldosary Professor Roger Whittaker Professor Bobby McFarland Professor Judith Goodship Emeritus Professor Doug Turnbull et al.	Neuromuscular disease presentation with three genetic defects involving two genomes	2009
Dr Mazhor Aldosary Professor Roger Whittaker Professor Bobby McFarland Professor Judith Goodship Emeritus Professor Doug Turnbull et al.	Neuromuscular disease presentation with three genetic defects involving two genomes: The characterisation of a novel mitochondrial tRNA mutation exhibiting skewed segregation	2009
Dr Joanna Elson Dr Helen Swalwell Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Pathogenic mitochondrial tRNA mutations - which mutations are inherited and why?	2009
Professor Bobby McFarland Dr Helen Tuppen Dr Andrew Morris Dr Anita Devlin Professor Robert Taylor et al.	Recurrent mutations in the NDUFS2 gene causing isolated complex I deficiency in skeletal muscle	2009
Dr Helen Tuppen Professor Bobby McFarland Professor Robert Taylor Dr Andrew Morris	The Biochemical and Molecular Genetic Aetiology of Leigh Syndrome	2009
Professor Roger Whittaker Professor Bobby McFarland	The Risk of Complications in Pregnancy and Labour for Women with Mitochondrial Disease	2009
Professor Roger Whittaker Dr John Blackwood Dr Charlotte Alston Dr Joanna Elson Professor Bobby McFarland et al.	Urine Heteroplasmy is the Best Predictor of Clinical Outcome in the m.3243A>G mtDNA Mutation	2009
Dr Helen Tuppen Fabiana Fattori Professor Bobby McFarland Professor Robert Taylor	Further pitfalls in the diagnosis of mtDNA mutations: Homoplasmic mt-tRNA mutations	2008
Dr Andrew Schaefer Professor Bobby McFarland Professor Patrick Chinnery Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply	2008
Professor Gavin Hudson Joanna Stewart Emeritus Professor Mike Sir Michael Rawlins Dr Andrew Schaefer Philip Griffiths et al.	Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance	2008
Professor Gavin Hudson Dr Patrick Yu Wai Man Professor Rita Horvath Professor Bobby McFarland Emeritus Professor Doug Turnbull et al.	Mutations in OPA1 cause multiple mtDNA deletions: a novel disorder of mtDNA maintenance	2008
Joanna Stewart Dr Angela Pyle Emeritus Professor Mike Sir Michael Rawlins Professor Gavin Hudson Dr Andrew Morris et al.	Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.	2008
Dr Joanna Rorbach Dr Helen Tuppen Professor Zofia Chrzanowska-Lightowlers Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation	2008
Professor Bobby McFarland Professor Roger Whittaker Professor Robert Taylor Emeritus Professor Doug Turnbull	Pre-eclampsia and magnesium toxicity with therapeutic plasma level in a woman with m.3243A > G melas mutation	2008
Dr Andrew Schaefer Professor Bobby McFarland Professor Roger Whittaker Professor Robert Taylor Professor Patrick Chinnery et al.	Prevalence of mitochondrial DNA disease in adults	2008
Dr Andrew Schaefer Professor Roger Whittaker Professor Bobby McFarland Professor Patrick Chinnery Professor Robert Taylor et al.	Reply	2008
Professor Bobby McFarland Professor Gavin Hudson Professor Robert Taylor Dr Stephen Hodges Professor Patrick Chinnery et al.	Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1)	2008
Professor Bobby McFarland Dr Helen Swalwell Emeritus Professor Doug Turnbull Emerita Professor Katherine Bushby Professor Robert Taylor et al.	The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy	2008
Professor Robert Taylor Professor Bobby McFarland Emeritus Professor Doug Turnbull	The NCG Service for Rare Mitochondrial Disorders of Adults and Children: a clinical and molecular genetics perspective	2008
Dr Charlotte Alston Professor Roger Whittaker Dr John Blackwood Professor Bobby McFarland Emeritus Professor Doug Turnbull et al.	Urinary epithelia as an indicator of m.3243A>G heteroplasmy levels and predictor of clinical outcome	2008
Dr Helen Swalwell Professor Bobby McFarland Dr Joanna Elson Dr Langping He Emerita Professor Katherine Bushby et al.	A maternally inherited mitochondrial tRNA mutation masquerading as limb girdle muscular dystrophy: Insights into the transmission of mtDNA mutations	2007
Professor Roger Whittaker Dr Andrew Schaefer Professor Bobby McFarland Professor Robert Taylor Professor Mark Walker et al.	Diabetes and deafness: Is it sufficient to screen for the mitochondrial 3243A>G mutation alone?	2007
Professor Bobby McFarland Professor Patrick Chinnery Dr Andrew Schaefer Dr Andrew Morris Sharon Foster et al.	Homoplasmy, heteroplasmy, and mitochondrial dystonia	2007
Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial disease - Its impact, etiology, and pathology	2007
Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Mitochondrial Disease-Its Impact, Etiology, and Pathology	2007
Professor Roger Whittaker Dr Andrew Schaefer Professor Bobby McFarland Professor Robert Taylor Professor Mark Walker et al.	Prevalence and progression of diabetes in mitochondrial disease	2007
Dr Helen Swalwell Professor Bobby McFarland Emeritus Professor Doug Turnbull Professor Robert Taylor	Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation	2007
Professor Patrick Chinnery Professor Gavin Hudson Professor Robert Taylor Emeritus Professor Doug Turnbull Dr Vankateswara Ramesh et al.	When and how should neurologists test for mutations in POLG?	2007
Professor Robert Taylor Dr Helen Swalwell Dr Denise Kirby Professor Bobby McFarland Dr Anna Mitchell et al.	[abstract] The molecular genetic basis of respiratory chain complex I deficiency: Clinical presentations and mtDNA mutations	2006
Professor Robert Taylor Dr Andrew Schaefer Dr Langping He Professor Bobby McFarland Professor Roger Whittaker et al.	[abstract] The prevalence of pathogenic mitochondrial DNA mutations in adults	2006
Dr Andrew Schaefer Dr Joanna Elson Emeritus Professor Doug Turnbull Professor Bobby McFarland	A scale to monitor progression and treatment of mitochondrial disease in children	2006
Dr Andrew Schaefer Dr Joanna Elson Professor Bobby McFarland Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	Mitochondrial disease in adults: A scale to monitor progression and treatment	2006
Professor Rita Horvath Professor Gavin Hudson Professor Hanns Lochmuller Professor Bobby McFarland Dr Vankateswara Ramesh et al.	Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene	2006
Professor Robert Taylor Dr Joanna Elson Professor Bobby McFarland Dr Anna Mitchell Emeritus Professor Doug Turnbull et al.	Sequence variation in the mitochondrial genome: what is the pathogenic mutation?	2005
Dr Andrew Schaefer Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Timelines in mitochondrial DNA disease: Genotypes, phenotypes, and disease progression	2005
Professor Bobby McFarland Dr Debbie Pye Dr Michael Glanville Professor Zofia Chrzanowska-Lightowlers Emeritus Professor Doug Turnbull et al.	A homoplasmic mtDNA mutation promotes rapid decay of deacylated mt-tRNAVal	2004
Professor Bobby McFarland Professor Robert Taylor Professor Patrick Chinnery Emeritus Professor Doug Turnbull	A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis	2004
Dr Joanna Elson Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough	2004
Professor Bobby McFarland Dr Joanna Elson Professor Robert Taylor Emeritus Professor Doug Turnbull	Assigning pathogenicity to mitochondrial tRNA mutations: when 'definitely maybe' is not good enough	2004
Professor Robert Taylor Dr Andrew Schaefer Christine Hayes Professor Bobby McFarland Emeritus Professor Doug Turnbull et al.	Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene	2004
Professor Bobby McFarland Professor Robert Taylor	Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation	2004
Professor Bobby McFarland Dr Denise Kirby Emeritus Professor Doug Turnbull Professor Robert Taylor	De Novo Mutations in the Mitochondrial ND3 Gene as a Cause of Infantile Mitochondrial Encephalopathy and Complex I Deficiency	2004
Professor Bobby McFarland Dr Andrew Schaefer Dr Julie Murphy Dr Stephen Lynn Christine Hayes et al.	Familial Myopathy: New Insights into the T14709C Mitochondrial tRNA Mutation	2004
Dr Andrew Schaefer Professor Bobby McFarland Professor Patrick Chinnery Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Mitochondrial disease: new prevalence figures with major resource implications	2004
Dr Denise Kirby Professor Bobby McFarland Emeritus Professor Doug Turnbull Professor Robert Taylor	Mutations of the mitochondrial ND1 gene as a cause of MELAS	2004
Dr Andrew Schaefer Professor Bobby McFarland Professor Patrick Chinnery Emeritus Professor Doug Turnbull Professor Robert Taylor et al.	Nonivasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells	2004
Professor Bobby McFarland Professor Robert Taylor Dr Joanna Elson Professor Robert Lightowlers Emeritus Professor Doug Turnbull et al.	Proving pathogenicity: When evolution is not enough	2004
Professor Robert Taylor Dr Andrew Schaefer Dr Martin Barron Professor Bobby McFarland Emeritus Professor Doug Turnbull et al.	The diagnosis of mitochondrial muscle disease	2004
Professor Bobby McFarland Dr Denise Kirby Emeritus Professor Doug Turnbull Professor Robert Taylor	De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency	2003
Dr Andrew Schaefer Professor Bobby McFarland Dr Julie Murphy Dr Stephen Lynn Christine Hayes et al.	Familial mitochondrial myopathy: New insights into the T14709C mitochondrial tRNA mutation	2003
Professor Robert Taylor Dr Andrew Schaefer Professor Bobby McFarland Emeritus Professor Doug Turnbull	A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy	2002
Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Bobby McFarland Dr Andrew Schaefer	Defects of the mitochondrial genome	2002
Professor Bobby McFarland Professor Robert Taylor Professor Patrick Chinnery Professor Robert Lightowlers Emeritus Professor Doug Turnbull et al.	Health, disability and death: A new spectrum of disease for homoplasmic mutations of mitochondrial DNA	2002
Professor Bobby McFarland Kim Clark Dr Andrew Morris Professor Robert Taylor Dr Sheila MacPhail et al.	Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation	2002
Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	The neurology of mitochondrial DNA disease	2002