Publications by Professor Grainne Gorman - ePrints

Browsing publications by Professor Grainne Gorman.

Newcastle Authors	Title	Year
Dr Renae Stefanetti Jane Newman Dr Alasdair Blain Professor Grainne Gorman	Auditory and vestibular function in mitochondrial patients harbouring the m.3243A>G variant	2024
Professor Grainne Gorman Professor Robert Taylor	Conformational fingerprinting with Raman spectroscopy reveals protein structure as a translational biomarker of muscle pathology	2024
Dr Elizaveta Olkhova Dr Laura Alexandra Smith Bethany Dennis Dr Yi Ng Dr Fiona LeBeau et al.	Delineating mechanisms underlying parvalbumin neuron impairment in different neurological and neurodegenerative disorders: the emerging role of mitochondrial dysfunction	2024
Professor Grainne Gorman	The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity	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 Elizaveta Olkhova Carla Bradshaw Emeritus Professor Doug Turnbull Dr Fiona LeBeau Dr Yi Ng et al.	A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction	2023
Dr Elizaveta Olkhova Dr Laura Alexandra Smith Carla Bradshaw Professor Grainne Gorman Dr Daniel Erskine et al.	Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology	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
Cecilia Jimenez Moreno Dr Nikoletta Nikolenko Professor Grainne Gorman Gabriella-Denisa Hathazi Dr Sally Spendiff et al.	Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1	2023
Dr Yi Ng Professor Grainne Gorman	Stroke-like episodes in adult mitochondrial disease	2023
Imogen Franklin Dr Paul Milne Jordan Childs Dr Roisin Boggan Isabel Barrow et al.	T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants	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
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 disorder	2022
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 insights	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 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
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
Dr Albert Lim Dr Yi Ng Dr Alasdair Blain Dr Cecilia Jimenez Moreno Dr Charlotte Alston et al.	Natural History of Leigh Syndrome: A Study of Disease Burden and Progression	2022
Professor Grainne Gorman Professor Robert Taylor	Non-negative matrix factorisation of Raman spectra finds common patterns relating to neuromuscular disease across differing equipment configurations, preclinical models and human tissue	2022
Dr 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
Ewen Sommerville Professor Patrick Chinnery Professor Grainne Gorman Professor Robert Taylor	RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis	2022
Professor Grainne Gorman Professor Robert Taylor	The application of Raman spectroscopy to the diagnosis of mitochondrial muscle disease: A preliminary comparison between fibre optic probe and microscope formats	2022
Dr Monika Olahova Dr Ewen Sommerville Dr Jack Collier Professor Grainne Gorman Professor Robert Taylor et al.	POLRMT mutations impair mitochondrial transcription causing neurological disease	2021
Professor Grainne Gorman Professor Rita Horvath Dr Richard Quinton Dr Andrew Schaefer Dr Patrick Yu Wai Man et al.	100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report	2021
Professor 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	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 disease	2021
Professor Grainne Gorman	miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1	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 Cecilia Jimenez Moreno Professor Grainne Gorman	Patient Preferences in Rare Diseases: A Qualitative Study in Neuromuscular Disorders to Inform a Quantitative Preference Study	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 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 Project	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
Dr Daniel Erskine Dr Amy Reeve Dr Tuomo Polvikoski Dr Andrew Schaefer Professor Robert Taylor et al.	Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls	2020
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 Oliver Russell Professor Grainne Gorman Professor Robert Lightowlers Emeritus Professor Doug Turnbull	Mitochondrial Diseases: Hope for the Future	2020
Dr Heather Moore Dr Alasdair Blain Emeritus Professor Doug Turnbull Professor Grainne Gorman	Systematic review of cognitive deficits in adult mitochondrial disease	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 Nikoletta Nikolenko Dr Marleny Jimenez-Castleton Professor Grainne Gorman Professor Hanns Lochmuller	Activities of daily living in myotonic dystrophy type 1	2019
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 dystrophy	2019
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 dystrophy	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
Dr Nikoletta Nikolenko Dr Cecilia Jimenez Moreno Professor Grainne Gorman Professor Hanns Lochmuller	Disease burden of myotonic dystrophy type 1	2019
Dr Rachel Boal Dr Yi Ng Dr Sarah Pickett Dr Andrew Schaefer Catherine Feeney et al.	Height as a clinical biomarker of disease burden in adult mitochondrial disease	2019
Dr Ewen Sommerville Dr Francesco Bruni Dr Kyle Thompson Dr Mariana Rocha Dr Langping He et al.	Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance	2019
Dr Ewen Sommerville Dr Monika Olahova Dr Angela Pyle Dr Langping He Professor Bobby McFarland et al.	Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy	2019
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 Cecilia Jimenez Moreno Professor Grainne Gorman	Outcome Measures and Quality of Life in Mitochondrial Diseases	2019
Dr Yi Ng Dr Mika Martikainen Professor Grainne Gorman Dr Alasdair Blain Dr Andrew Schaefer et al.	Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study	2019
Dr 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 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 trial	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 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 women	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 Boglárka Bánsági Professor 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 mutation	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
Sila Hopton Gavin Falkous Dr Fiona Norwood Professor Grainne Gorman Professor Robert Taylor et al.	Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene	2018
Sasiharan Sithamparanathan Dr Mariana Rocha Dr Jehill Parikh Karolina Rygiel Gavin Falkous et al.	Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study	2018
Dr 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
Dr Thomas Nicholls Dr Ewen Sommerville Professor Grainne Gorman Emeritus Professor Doug Turnbull Professor Patrick Chinnery et al.	Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA	2018
Dr Nichola Lax Professor Grainne Gorman Emeritus Professor Doug Turnbull	Central nervous system involvement in mitochondrial disease	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 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
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
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 Review	2017
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 Review	2017
Dr Ewen Sommerville Rachel Phelps Dr Steven Hardy Dr Angela Pyle Dr Andrew Schaefer et al.	Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia	2017
Dr 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 patients	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 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 disease	2016
Professor Grainne Gorman Professor Patrick Chinnery Professor Bobby McFarland Emeritus Professor Doug Turnbull	Mitochondrial diseases	2016
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) mutation	2016
Professor Grainne Gorman Professor Bobby McFarland	Nutritional interventions in primary mitochondrial disorders: Developing an evidence base	2016
Dr Steven Hardy Dr Andrew Purvis Dr Mariana Rocha Syeda Ahmed Gavin Falkous et al.	Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy	2016
Professor Roger Whittaker Professor Grainne Gorman Dr Yi Ng Emeritus Professor Doug Turnbull	Prevalence and Outcome of Mitochondrial Epilepsy Reply	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 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
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 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 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
Maria Wesolowska Professor Grainne Gorman Dr Charlotte Alston Aleksandra Pajak Dr Angela Pyle et al.	Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease	2015
Dr 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” mutation	2015
Professor Grainne Gorman Dr Gerald Pfeffer Dr Helen Griffin Dr Marzena Kurzawa-Akanbi Jessica Gabriel et al.	Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28	2015
Professor 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 trial	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
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 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 Yi Ng Professor Grainne Gorman Emeritus Professor Doug Turnbull Mika Martikainen	The diagnosis of posterior reversible encephalopathy syndrome	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
Professor John Allen Professor Grainne Gorman	Thermographic assessment of the presence of fatty tumours in myoclonic epilepsy with ragged red fibres	2015
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 Workshop	2015
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 severity	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 Ewen Sommerville Professor Patrick Chinnery Professor Grainne Gorman Professor Robert Taylor	Adult-onset Mendelian PEO Associated with Mitochondrial Disease	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 Charlotte Alston Gavin Falkous Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Grainne Gorman et al.	Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation	2014
Dr 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 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 study	2014
Professor Grainne Gorman Josh Wood Professor Mike Trenell	Physical Activity, Exercise, and Aging	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 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 Mutation	2013
Professor Grainne Gorman Dr Robert Pitceathly Emeritus Professor Doug Turnbull Professor Robert Taylor	RRM2B-Related Mitochondrial Disease	2013
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 measures	2013
Dr Matthew Bates Dr Kieren Hollingsworth Jane Newman Professor Djordje Jakovljevic Professor Andrew Blamire et al.	Concentric hypertrophic remodeling and subendocardial dysfunction in mitochondrial DNA point mutation carriers	2013
Dr Matthew Bates Jane Newman Professor Djordje Jakovljevic Dr Kieren Hollingsworth Professor Andrew Blamire et al.	Defining cardiac adaptations and safety of endurance training in patients with m.3243A>g-related mitochondrial disease	2013
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 Cynthia Yu Wai Man Dr Fiona Smith Dr Michael Firbank Professor Grainne Gorman Professor Robert Taylor et al.	Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia	2013
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 Charlotte Alston Dr Andrew Schaefer Kim Krishnan Dr Langping He Kate Craig et al.	Late-Onset Respiratory Failure Due to Tk2 Mutations Causing Multiple MtDNA Deletions	2013
Sally Spendiff Dr Mojgan Reza Dr Julie Murphy Professor Grainne Gorman Professor Robert Taylor et al.	Mitochondrial DNA deletions in muscle satellite cells: implications for therapies	2013
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 Disease	2013
Professor Rita Horvath Dr Angela Pyle Professor Grainne Gorman Professor Hanns Lochmuller Professor Robert Taylor et al.	Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3	2012
Dr 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
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 Kieren Hollingsworth Jane Newman Professor Djordje Jakovljevic Professor Bernard Keavney et al.	Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers	2012
Dr 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 carriers	2012
Dr Patrick Yu Wai Man Professor Grainne Gorman Professor Robert Taylor Emeritus Professor Doug Turnbull	Diagnostic investigations of patients with chronic progressive external ophthalmoplegia	2012
Dr Matt Bates Dr Kieren Hollingsworth Jane Newman Professor Djordje Jakovljevic Professor Andrew Blamire et al.	Evidence of early cardiac impairment in m.3243A > G mutation carriers	2012
Dr Charlotte Alston Professor Rita Horvath Professor Michael Hanna Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease	2012
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 disease	2012
Heather Moore Professor Mike Trenell Emeritus Professor Doug Turnbull Professor Grainne Gorman	Processing speed is impaired in patients with Mitochondrial Disease	2012
Professor Grainne Gorman Professor Rita Horvath Professor Andrew Blamire Professor Patrick Chinnery	Progressive Brain Iron Accumulation in Neuroferritinopathy Measured by the Thalamic T2*Relaxation Rate	2012
Dr Julie Murphy Jane Newman Thiloka Ratnaike Gavin Falkous Dr Charlotte Alston et al.	Resistance training in patients with mitochondrial myopathy	2012
Dr Charlotte Alston Dr Andrew Schaefer Emeritus Professor Doug Turnbull Professor Robert Taylor Professor Grainne Gorman et al.	The c.48G > A variant in the mitochondrial DNA maintenance gene, RRM2B, causes adult-onset autosomal dominant PEO via aberrant splicing	2012
Professor Grainne Gorman Professor Raj Kalaria Professor Gary Ford Professor Patrick Chinnery	The minimum prevalence of CADASIL in northeast England	2012
Vivienne Neeve Professor Hanns Lochmuller Professor Gavin Hudson Professor Grainne Gorman Emeritus Professor Doug Turnbull et al.	What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?	2012
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 deletions	2011
Dr Andrew Schaefer Professor Patrick Chinnery Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Grainne Gorman et al.	Dominant and recessive RRM2B mutations cause familial PEO and multiple mtDNA deletions in muscle	2011
Professor Grainne Gorman Dr Joanna Elson Dr Thomas Ploetz Emeritus Professor Doug Turnbull Professor Mike Trenell et al.	Habitual Physical Activity in Mitochondrial Disease	2011
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 treatment	2011
Dr Andrew Schaefer Professor Patrick Chinnery Professor Rita Horvath Emeritus Professor Doug Turnbull Professor Grainne Gorman et al.	RRM2B mutations are frequent in familial peo with multiple mtDNA deletions	2011
Professor 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 gene	2011
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 Professor Mark Baker et al.	Multi-system neurological disease is common in patients with OPA1 mutations	2010
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 disease	2010
Dr Joanna Elson Professor Grainne Gorman Professor Roger Whittaker	Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions	2010
Professor Grainne Gorman Joanna Stewart Dr Mark Buddles Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO	2010
Professor Grainne Gorman Joanna Stewart Dr Mark Buddles Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients	2009
Professor Grainne Gorman Dr Michael Hutchinson	Clinical Reasoning: An unusual case of papilledema after orthotopic liver transplantation	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
Dr Patrick Yu Wai Man Professor Grainne Gorman Dr David Bateman Professor Patrick Chinnery	Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6	2009
Professor Grainne Gorman Dr Daniel Birchall Professor Patrick Chinnery	Fragile X premutation presenting as essential tremor	2008
Professor Rita Horvath Professor Grainne Gorman Professor Patrick Chinnery	How Can We Treat Mitochondrial Encephalomyopathies? Approaches to Therapy	2008