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Browsing publications by Professor Bobby McFarland.

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 Anna Basu
Dr Rob Forsyth
Professor Bobby McFarland
Dr Ki Pang
Dr Henriette van Ruiten
et al.
Chickenpox and stroke - joining the dots2022
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 Study2022
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
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 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 Episodes2022
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
Dr David Houghton
Dr Yi Ng
Dr Renae Stefanetti
Paula Hynd
Dr 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 disease2022
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 disease2022
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
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 disease2021
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 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
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 defects2021
Professor Bobby McFarland
Professor Robert Taylor
The Effect of tRNA[Ser]Sec Isopentenylation on Selenoprotein Expression2021
Dr Uwe Richter
Professor Bobby McFarland
Professor Robert Taylor
Dr Sarah Pickett
The molecular pathology of pathogenic mitochondrial tRNA variants2021
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 features2020
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
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
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 disease2020
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 Deficiency2020
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 Bobby McFarland
Professor Robert Taylor
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey2020
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 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
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
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
Professor Patrick Chinnery
Professor Rita Horvath
Professor Bobby McFarland
Dr Victoria Nesbitt
Dr Hannah Steele
et al.
Diagnosis of 'possible' mitochondrial disease: an existential crisis2019
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 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
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
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
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
Roisin Boggan
Dr Albert Lim
Professor Robert Taylor
Professor Bobby McFarland
Dr Sarah Pickett
et al.
Resolving complexity in mitochondrial disease: Towards precision medicine2019
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 cerebellitis2019
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 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 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
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
Professor Grainne Gorman
Professor Bobby McFarland
Dr Jane Stewart
Catherine Feeney
Emeritus Professor Doug Turnbull
et al.
Mitochondrial donation: from test tube to clinic2018
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 Cecilia Jimenez Moreno
Professor Bobby McFarland
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop2018
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
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
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 Yi Ng
Professor Bobby McFarland
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection2017
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
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 project2017
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 Charalampos Tzoulis
Professor Bobby McFarland
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease2017
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, Italy2017
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 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
Professor Bobby McFarland
The presence of anaemia negatively influences survival in patients with POLG 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
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
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
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
Professor Bobby McFarland
Professor Robert Taylor
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure2016
Professor Bobby McFarland
International Paediatric Mitochondrial Disease Scale2016
Professor Grainne Gorman
Professor Patrick Chinnery
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
Mitochondrial diseases2016
Professor Grainne Gorman
Professor Bobby McFarland
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base2016
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
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
Dr Yi Ng
Professor Grainne Gorman
Professor Bobby McFarland
Solid organ transplantation in primary mitochondrial disease: Proceed with caution2016
Dr Yi Ng
Professor Grainne Gorman
Professor Bobby McFarland
Solid organ transplantation in primary mitochondrial disease: Proceed with caution2016
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 Amy Vincent
Dr Yi Ng
Dr Kathryn White
Tracey Davey
Gavin Falkous
et al.
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy2016
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 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 centre2015
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
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
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
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
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
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 disease2015
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 Francesco Bruni
Professor Bobby McFarland
Professor Robert Taylor
The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism2015
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 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 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 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 consequences2014
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
Dr Robert Pitceathly
Professor Bobby McFarland
Mitochondrial myopathies in adults and children: management and therapy development2014
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 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
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
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 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
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 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
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
Helen Bogle
Dr Nichola Lax
Dr Evelyn Jaros
Professor Bobby McFarland
Professor Robert Taylor
et al.
Neuropathological changes in Alpers' syndrome2013
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 standards2013
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
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 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 Utilisation2013
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 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
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 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
Professor Bobby McFarland
Cerebral folate deficiency-mishaps and misdirection2012
Julia Tonge
Professor Volker Straub
Professor Hanns Lochmuller
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
et al.
Clinical research activity in Newcastle MRC centre2012
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
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
Professor Bobby McFarland
SURF1 deficiency: Natural history study of a UK cohort2012
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 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 utilisation2012
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
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
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 homocysteinuria2011
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 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 mutation2011
Dr Victoria Nesbitt
Professor Bobby McFarland
Diabetes is not a common feature in children with mtDNA disease2011
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
Rebecca Say
Professor Roger Whittaker
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al.
Mitochondrial disease in pregnancy: a systematic review2011
Dr Victoria Nesbitt
Professor Roger Whittaker
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
Professor Robert Taylor
et al.
mtDNA disease for the neurologist2011
Professor Bobby McFarland
Dr Joanna Elson
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression2011
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
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 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 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 UK2011
Professor Bobby McFarland
Professor Robert Taylor
The relationship between the pyruvate dehydrogenase complex and the mitochondrial respiratory chain2011
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
A neurological perspective on mitochondrial disease2010
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
Professor Bobby McFarland
Depressive behaviour in children diagnosed with a mitochondrial disorder2010
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
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
Dr Anna Basu
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
Kearns-Sayre Syndrome2010
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 Jill Cadwgan
Professor Roger Whittaker
Professor Bobby McFarland
Mitochondrial diseases in childhood: a clinical approach to investigation and management2010
Dr John Yarham
Dr Joanna Elson
Professor Bobby McFarland
Professor Robert Taylor
Mitochondrial tRNA mutations and disease2010
Dr Robert Pitceathly
Dr Victoria Nesbitt
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
MRC mitochondrial cohort study: development of a UK database2010
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 Bobby McFarland
The childhood presentation of mitochondrial disease2010
Professor Bobby McFarland
The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study2010
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 Anil Gholkar OBE
Professor Bobby McFarland
Unilateral Horner's syndrome: An unusual childhood presentation2010
Professor Bobby McFarland
Professor Patrick Chinnery
Professor Timothy Cheetham
Abnormal growth in mitochondrial disease2009
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
Batteries not included: diagnosis and management of mitochondrial disease2009
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 Bobby McFarland
Do clinical features of mitochondrial diseases vary with the age at presentation? Findings of a UK-wide study2009
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
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
Professor Roger Whittaker
Professor Bobby McFarland
The Risk of Complications in Pregnancy and Labour for Women with Mitochondrial Disease2009
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
Dr Helen Tuppen
Fabiana Fattori
Professor Bobby McFarland
Professor Robert Taylor
Further pitfalls in the diagnosis of mtDNA mutations: Homoplasmic mt-tRNA mutations2008
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
Dr 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 maintenance2008
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
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 Andrew Schaefer
Professor Roger Whittaker
Professor Bobby McFarland
Professor Patrick Chinnery
Professor Robert Taylor
et al.
Reply2008
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 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 mutations2007
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 dystonia2007
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 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
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
Dr Andrew Schaefer
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
A scale to monitor progression and treatment of mitochondrial disease in children2006
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 treatment2006
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
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
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-tRNAVal2004
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
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
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 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
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 Robert Taylor
Dr Andrew Schaefer
Dr Martin Barron
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
et al.
The diagnosis of mitochondrial muscle disease2004
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
Dr Andrew Schaefer
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy2002
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Professor Bobby McFarland
Dr Andrew Schaefer
Defects of the mitochondrial genome2002
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 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
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
The neurology of mitochondrial DNA disease2002