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Browsing publications by Professor Grainne Gorman.

Newcastle AuthorsTitleYearFull text
Dr John Bourke
Dr Yi Ng
Dr Matthew Bates
Emeritus Professor Doug Turnbull
Professor Grainne Gorman
et al.
Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder2022
Professor Grainne Gorman
Professor Hanns Lochmuller
Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights2022
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
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
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 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
Ewen Sommerville
Professor Patrick Chinnery
Professor Grainne Gorman
Professor Robert Taylor
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis2022
Professor Grainne Gorman
Professor Robert Taylor
The application of Raman spectroscopy to the diagnosis of mitochondrial muscle disease: A preliminary comparison between fibre optic probe and microscope formats2022
Dr Monika Olahova
Dr Ewen Sommerville
Dr Jack Collier
Professor Grainne Gorman
Professor Robert Taylor
et al.
POLRMT mutations impair mitochondrial transcription causing neurological disease2021
Professor Grainne Gorman
Professor Rita Horvath
Dr Richard Quinton
Dr Andrew Schaefer
Dr Patrick Yu Wai Man
et al.
100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report2021
Professor 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 Cecilia Jimenez Moreno
Professor Grainne Gorman
Correction to: Patient Preferences in Rare Diseases: A Qualitative Study in Neuromuscular Disorders to Inform a Quantitative Preference Study (The Patient - Patient-Centered Outcomes Research, (2021), 10.1007/s40271-020-00482-z)2021
Jane Newman
Dr James Miller
Professor Djordje Jakovljevic
Professor Grainne Gorman
Emeritus Professor Doug Turnbull
et al.
Interventions for promoting physical activity in people with neuromuscular disease2021
Professor Grainne Gorman
miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 12021
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 Cecilia Jimenez Moreno
Professor Grainne Gorman
Patient Preferences in Rare Diseases: A Qualitative Study in Neuromuscular Disorders to Inform a Quantitative Preference Study2021
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 Grainne Gorman
Dr Cecilia Jimenez Moreno
Christine Dyer
A study protocol for quantifying patient preferences in neuromuscular disorders: A case study of the IMI PREFER Project2020
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
Dr Daniel Erskine
Dr Amy Reeve
Dr Tuomo Polvikoski
Dr Andrew Schaefer
Professor Robert Taylor
et al.
Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls2020
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 Oliver Russell
Professor Grainne Gorman
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
Mitochondrial Diseases: Hope for the Future2020
Dr Heather Moore
Dr Alasdair Blain
Emeritus Professor Doug Turnbull
Professor Grainne Gorman
Systematic review of cognitive deficits in adult mitochondrial disease2020
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 Nikoletta Nikolenko
Dr Marleny Jimenez-Castleton
Professor Grainne Gorman
Professor Hanns Lochmuller
Activities of daily living in myotonic dystrophy type 12019
Dr Cecilia Jimenez Moreno
Dr Nikoletta Nikolenko
Dr Alasdair Blain
Jane Newman
Jassi Sodhi
et al.
Analysis of the functional capacity outcome measures for myotonic dystrophy2019
Dr Cecilia Jimenez Moreno
Dr Sarah Charman
Dr Nikoletta Nikolenko
Maxwell Larweh
Professor Grainne Gorman
et al.
Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy2019
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
Dr Nikoletta Nikolenko
Dr Cecilia Jimenez Moreno
Professor Grainne Gorman
Professor Hanns Lochmuller
Disease burden of myotonic dystrophy type 12019
Dr Rachel Boal
Dr Yi Ng
Dr Sarah Pickett
Dr Andrew Schaefer
Catherine Feeney
et al.
Height as a clinical biomarker of disease burden in adult mitochondrial disease2019
Dr Ewen Sommerville
Dr Francesco Bruni
Dr Kyle Thompson
Dr Mariana Rocha
Dr Langping He
et al.
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance2019
Dr Ewen Sommerville
Dr Monika Olahova
Dr Angela Pyle
Dr Langping He
Professor Bobby McFarland
et al.
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy2019
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 Cecilia Jimenez Moreno
Professor Grainne Gorman
Outcome Measures and Quality of Life in Mitochondrial Diseases2019
Dr Yi Ng
Dr Mika Martikainen
Professor Grainne Gorman
Dr Alasdair Blain
Dr Andrew Schaefer
et al.
Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study2019
Dr 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 Cecilia Jimenez Moreno
Professor Hanns Lochmuller
Professor Mike Catt
Professor Grainne Gorman
Professor Mike Catt
et al.
Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial2018
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 Richard Dodds
Dr Karen Davies
Dr Antoneta Granic
Dr Kieren Hollingsworth
Charlotte Warren
et al.
Mitochondrial respiratory chain function and content are preserved in the skeletal muscle of active very old men and women2018
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 Boglárka Bánsági
Dr Mark Baker
Matt Jennings
Professor Roger Whittaker
Dr Jennifer Duff
et al.
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation2018
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
Sila Hopton
Gavin Falkous
Dr Fiona Norwood
Professor Grainne Gorman
Professor Robert Taylor
et al.
Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene2018
Sasiharan Sithamparanathan
Dr Mariana Rocha
Dr Jehill Parikh
Karolina Rygiel
Gavin Falkous
et al.
Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study2018
Dr 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
Dr Thomas Nicholls
Dr Ewen Sommerville
Professor Grainne Gorman
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
et al.
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA2018
Dr Nichola Lax
Professor Grainne Gorman
Emeritus Professor Doug Turnbull
Central nervous system involvement in mitochondrial disease2017
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 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
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
Dr Cecilia Jimenez Moreno
Jane Newman
Dr Sarah Charman
Professor Mike Catt
Professor Mike Trenell
et al.
Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review2017
Dr Cecilia Jimenez Moreno
Jane Newman
Dr Sarah Charman
Professor Mike Catt
Professor Mike Trenell
et al.
Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review2017
Dr Ewen Sommerville
Rachel Phelps
Dr Steven Hardy
Dr Angela Pyle
Dr Andrew Schaefer
et al.
Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia2017
Dr Matthew Bates
Professor Christopher Eggett
Dr Mario Siervo
Dr Sophie Cassidy
Jane Newman
et al.
Pathophysiology of exercise intolerance in chronic diseases: the role of diminished cardiac performance in mitochondrial and heart failure patients2017
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 Nichola Lax
Dr John Grady
Dr Alex Laude
Felix Chan
Philippa Hepplewhite
et al.
Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease2016
Professor Grainne Gorman
Professor Patrick Chinnery
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
Mitochondrial diseases2016
Dr Boglarka Bansagi
Dr John O'Sullivan
Dr Juliane Mueller
Dr Jennifer Duff
Professor Grainne Gorman
et al.
Multifocal motor neuropathy caused by phosphatase and tensin homologue (PTEN) mutation2016
Professor Grainne Gorman
Professor Bobby McFarland
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base2016
Dr Steven Hardy
Dr Andrew Purvis
Dr Mariana Rocha
Syeda Ahmed
Gavin Falkous
et al.
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy2016
Professor Roger Whittaker
Professor Grainne Gorman
Dr Yi Ng
Emeritus Professor Doug Turnbull
Prevalence and Outcome of Mitochondrial Epilepsy Reply2016
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 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
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 Amy Vincent
Dr Yi Ng
Dr Kathryn White
Tracey Davey
Gavin Falkous
et al.
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy2016
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
Maria Wesolowska
Professor Grainne Gorman
Dr Charlotte Alston
Aleksandra Pajak
Dr Angela Pyle
et al.
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease2015
Dr Mika Martikainen
Professor Grainne Gorman
Dr Paul Goldsmith
Professor David Burn
Emeritus Professor Doug Turnbull
et al.
Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C “NARP” mutation2015
Professor Grainne Gorman
Dr Gerald Pfeffer
Dr Helen Griffin
Dr Marzena Kurzawa-Akanbi
Jessica Gabriel
et al.
Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 282015
Professor Grainne Gorman
Dr Cecilia Jimenez Moreno
Professor Hanns Lochmuller
Professor Mike Trenell
Professor Mike Catt
et al.
Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial2015
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
Professor Grainne Gorman
Dr John Grady
Dr Yi Ng
Dr Andrew Schaefer
Dr Richard McNally
et al.
Mitochondrial Donation: How Many Women Could Benefit?2015
Professor 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 Yi Ng
Professor Grainne Gorman
Emeritus Professor Doug Turnbull
Mika Martikainen
The diagnosis of posterior reversible encephalopathy syndrome2015
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
Professor John Allen
Professor Grainne Gorman
Thermographic assessment of the presence of fatty tumours in myoclonic epilepsy with ragged red fibres2015
Professor Francois van der Westhuizen
Professor Grainne Gorman
Dr Brendan Payne
Dr Joanna Elson
Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop2015
Dr Michael Keogh
Dr Benjamin Aribisala
Dr Jiabao He
Dr Clare Morris
Professor Grainne Gorman
et al.
Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity2015
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 Ewen Sommerville
Professor Patrick Chinnery
Professor Grainne Gorman
Professor Robert Taylor
Adult-onset Mendelian PEO Associated with Mitochondrial Disease2014
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 Charlotte Alston
Gavin Falkous
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Professor Grainne Gorman
et al.
Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation2014
Dr 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 James Frith
Professor Fai Ng
Professor Chris Day
Dr Brendan Payne
Professor Neil Sheerin
et al.
Orthostatic intolerance is common in chronic disease - A clinical cohort study2014
Professor Grainne Gorman
Josh Wood
Professor Mike Trenell
Physical Activity, Exercise, and Aging2014
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 Anna Sarkozy
Dr Debbie Hicks
Dr Steven Laval
Dr Rita Barresi
Dr Lizzie Harris
et al.
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation2013
Professor Grainne Gorman
Dr Robert Pitceathly
Emeritus Professor Doug Turnbull
Professor Robert Taylor
RRM2B-Related Mitochondrial Disease2013
Katherine Jones
Dr Roger Whittaker
Dr James Miller
Professor Djordje Jakovljevic
Emeritus Professor Doug Turnbull
et al.
Can high intensity interval training improve functional capacity and clinical symptoms in inflammatory and mitochondrial myopathies?2013
Philip Griffiths
Dr Fiona Smith
Dr Michael Firbank
Professor Grainne Gorman
Professor Robert Taylor
et al.
Chronic progressive external ophthalmoplegia - Disease mechanisms and clinical outcome measures2013
Dr Matthew Bates
Dr Kieren Hollingsworth
Jane Newman
Professor Djordje Jakovljevic
Professor Andrew Blamire
et al.
Concentric hypertrophic remodeling and subendocardial dysfunction in mitochondrial DNA point mutation carriers2013
Dr Matthew Bates
Jane Newman
Professor Djordje Jakovljevic
Dr Kieren Hollingsworth
Professor Andrew Blamire
et al.
Defining cardiac adaptations and safety of endurance training in patients with m.3243A>g-related mitochondrial disease2013
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 Cynthia Yu Wai Man
Dr Fiona Smith
Dr Michael Firbank
Professor Grainne Gorman
Professor Robert Taylor
et al.
Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia2013
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 Charlotte Alston
Dr Andrew Schaefer
Kim Krishnan
Dr Langping He
Kate Craig
et al.
Late-Onset Respiratory Failure Due to Tk2 Mutations Causing Multiple MtDNA Deletions2013
Sally Spendiff
Dr Mojgan Reza
Dr Julie Murphy
Professor Grainne Gorman
Professor Robert Taylor
et al.
Mitochondrial DNA deletions in muscle satellite cells: implications for therapies2013
Katherine Jones
Professor Roger Whittaker
Dr James Miller
Professor Djordje Jakovljevic
Emeritus Professor Doug Turnbull
et al.
The Effects of High Intensity Interval Training on Clinical Symptoms and Functional Capacity in Adults with Neuromuscular Disease2013
Professor Rita Horvath
Dr Angela Pyle
Professor Grainne Gorman
Professor Hanns Lochmuller
Professor Robert Taylor
et al.
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK32012
Dr 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
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 Kieren Hollingsworth
Jane Newman
Professor Djordje Jakovljevic
Professor Bernard Keavney
et al.
Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers2012
Dr Matt Bates
Dr Kieren Hollingsworth
Robert Taylor
Emeritus Professor Doug Turnbull
Professor Mike Trenell
et al.
Concentric remodeling and increased myocardial torsion in mitochondrial DNA point mutation carriers2012
Dr Patrick Yu Wai Man
Professor Grainne Gorman
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia2012
Dr Matt Bates
Dr Kieren Hollingsworth
Jane Newman
Professor Djordje Jakovljevic
Professor Andrew Blamire
et al.
Evidence of early cardiac impairment in m.3243A > G mutation carriers2012
Dr Charlotte Alston
Professor Rita Horvath
Professor Michael Hanna
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
et al.
Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease2012
Jane Newman
Professor Djordje Jakovljevic
Dr Matt Bates
Emeritus Professor Doug Turnbull
Dr Brook Galna
et al.
Improving clinical trials evaluation: physiological and functional correlates in mitochondrial disease2012
Heather Moore
Professor Mike Trenell
Emeritus Professor Doug Turnbull
Professor Grainne Gorman
Processing speed is impaired in patients with Mitochondrial Disease2012
Professor Grainne Gorman
Professor Rita Horvath
Professor Andrew Blamire
Professor Patrick Chinnery
Progressive Brain Iron Accumulation in Neuroferritinopathy Measured by the Thalamic T2*Relaxation Rate2012
Dr Julie Murphy
Jane Newman
Thiloka Ratnaike
Gavin Falkous
Dr Charlotte Alston
et al.
Resistance training in patients with mitochondrial myopathy2012
Dr Charlotte Alston
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Professor Grainne Gorman
et al.
The c.48G > A variant in the mitochondrial DNA maintenance gene, RRM2B, causes adult-onset autosomal dominant PEO via aberrant splicing2012
Professor Grainne Gorman
Professor Raj Kalaria
Professor Gary Ford
Professor Patrick Chinnery
The minimum prevalence of CADASIL in northeast England2012
Vivienne Neeve
Professor Hanns Lochmuller
Dr Gavin Hudson
Professor Grainne Gorman
Emeritus Professor Doug Turnbull
et al.
What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?2012
Dr Charlotte Alston
Dr Robert Pitceathly
Professor Michael Hanna
Dr Andrew Schaefer
Professor Patrick Chinnery
et al.
Dominant and recessive RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions2011
Dr Andrew Schaefer
Professor Patrick Chinnery
Professor Rita Horvath
Emeritus Professor Doug Turnbull
Professor Grainne Gorman
et al.
Dominant and recessive RRM2B mutations cause familial PEO and multiple mtDNA deletions in muscle2011
Professor Grainne Gorman
Dr Joanna Elson
Dr Thomas Ploetz
Emeritus Professor Doug Turnbull
Professor Mike Trenell
et al.
Habitual Physical Activity in Mitochondrial Disease2011
Professor Rita Horvath
Emeritus Professor Doug Turnbull
Professor Mike Trenell
Dr Kieren Hollingsworth
Professor Grainne Gorman
et al.
Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment2011
Dr Andrew Schaefer
Professor Patrick Chinnery
Professor Rita Horvath
Emeritus Professor Doug Turnbull
Professor Grainne Gorman
et al.
RRM2B mutations are frequent in familial peo with multiple mtDNA deletions2011
Professor Rita Horvath
Emeritus Professor Doug Turnbull
Professor Mike Trenell
Dr Kieren Hollingsworth
Professor Grainne Gorman
et al.
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene2011
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 Grainne Gorman
Emeritus Professor Doug Turnbull
Professor Rita Horvath
Professor Roger Whittaker
Angela Phillips
et al.
Development and validation of a quality of life scale for mitochondrial disease (MITO-QOL)2010
Professor Grainne Gorman
Dr Joanna Elson
Professor Mike Trenell
Emeritus Professor Doug Turnbull
Habitual physical activity in mitochondrial disease - do we need to intervene?2010
Professor Grainne Gorman
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Professor Mike Trenell
Habitual physical activity in mitochondrial disease - do we need to intervene?2010
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 Patrick Chinnery
Dr Matthew Jackson
Dr Patrick Yu Wai Man
Professor Grainne Gorman
Michelle Baker
et al.
Mutations in OPA1 expand the clinical phenotype of mitochondrial disease2010
Dr Joanna Elson
Professor Grainne Gorman
Professor Roger Whittaker
Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions2010
Professor Grainne Gorman
Joanna Stewart
Dr Mark Buddles
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
et al.
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Joanna Stewart
Dr Mark Buddles
Professor Patrick Chinnery
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Professor Robert Taylor
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