Dr Andrew Schaefer
Kate Craig
Sila Hopton
Gavin Falkous
Professor Robert Taylor
et al. | Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy | 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 ursula Moore
Professor Volker Straub
Dr Rita Barresi
Professor Michela Guglieri
Dr Hannah Hayhurst
et al. | Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy | 2022 |
|
Professor Grainne Gorman
Professor Rita Horvath
Dr Richard Quinton
Dr Andrew Schaefer
Dr Patrick Yu Wai Man
et al. | 100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report | 2021 |
|
Jack Collier
Dr Monika Olahova
Dr Nuria Martinez Lopez
Dr Tuomo Polvikoski
Dr Andrew Schaefer
et al. | Developmental consequences of defective Atg7-mediated autophagy in humans | 2021 |
|
Dr 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 |
|
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 |
|
Dr Yi Ng
Dr Kyle Thompson
Daniela Loher
Sila Hopton
Gavin Falkous
et al. | Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency | 2020 |
|
Charlotte Zierz
Karen Baty
Sila Hopton
Gavin Falkous
Dr Andrew Schaefer
et al. | A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia | 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 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 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 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 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 |
|
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 Simao Cruz
Dr Andrew Schaefer
| Clinical Reasoning: A 71-year-old woman with subacute progressive distal weakness and paresthesia after vaccination | 2017 |
|
Dr Yi Ng
Professor Robert Taylor
Dr Andrew Schaefer
| Diabetes Mellitus in Mitochondrial Disease | 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 |
|
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 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
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 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 |
|
Dr Timothy Walls
Dr Anna Sarkozy
Dr Marta Bertoli
Dr Andrew Schaefer
Emerita Professor Katherine Bushby
et al. | Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies | 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 Charlotte Alston
Dr Robert Pitceathly
Professor Bobby McFarland
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
et al. | The urinary proteome and metabonome differ from normal in adults with mitochondrial disease | 2015 |
|
Dr Yi Ng
Dr Charlotte Alston
Professor Rita Horvath
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
et al. | A genetic weakness - Phoenician legacy or Celtic heritage? | 2014 |
|
Dr 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 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 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 |
|
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 |
|
Dr Andrew Schaefer
Professor Mark Walker
Emeritus Professor Doug Turnbull
Professor Robert Taylor
| Endocrine disorders in 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 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 |
|
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 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 |
|
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 |
|
Dr Thomas Cope
Professor Bobby McFarland
Dr Andrew Schaefer
| Rapid-onset, linezolid-induced lactic acidosis in MELAS. | 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 |
|
Dr Evelyn Jaros
Emeritus Professor Robert Perry
Dr Amy Reeve
Dr Andrew Schaefer
Professor Robert Taylor
et al. | Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions | 2009 |
|
Dr Stephan Jaiser
Dr Adam Cassidy
Dr Joseph Guadagno
Dr Andrew Schaefer
Dr Kirstie Anderson
et al. | Denture Cream as a Cause of Copper Deficiency and Neurological Disease | 2009 |
|
Adillah Binti Yusof
Dr Martin Barron
Dr Stephanie Needham
Dr Andrew Schaefer
Professor Robert Taylor
et al. | Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation | 2008 |
|
Dr Andrew Schaefer
Professor Bobby McFarland
Professor Patrick Chinnery
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al. | Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply | 2008 |
|
Professor Gavin Hudson
Joanna Stewart
Emeritus Professor Mike Sir Michael Rawlins
Dr Andrew Schaefer
Philip Griffiths
et al. | Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance | 2008 |
|
Dr Andrew Schaefer
Professor Bobby McFarland
Professor Roger Whittaker
Professor Robert Taylor
Professor Patrick Chinnery
et al. | Prevalence of mitochondrial DNA disease in adults | 2008 |
|
Dr Andrew Schaefer
Professor Roger Whittaker
Professor Bobby McFarland
Professor Patrick Chinnery
Professor Robert Taylor
et al. | Reply | 2008 |
|
Dr Julie Murphy
Dr Andrew Schaefer
Professor Robert Taylor
Emeritus Professor Doug Turnbull
| Resistance training in patients with single, large-scale deletions of mitochondrial DNA | 2008 |
|
Dr Angela Pyle
Professor Robert Taylor
Dr Steve Durham
Dr Andrew Schaefer
Dr David Samuels
et al. | Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation | 2007 |
|
Professor Roger Whittaker
Dr Andrew Schaefer
Professor Bobby McFarland
Professor Robert Taylor
Professor Mark Walker
et al. | Diabetes and deafness: Is it sufficient to screen for the mitochondrial 3243A>G mutation alone? | 2007 |
|
Professor Roger Whittaker
Dr Andrew Schaefer
Professor Robert Taylor
Emeritus Professor Doug Turnbull
| Differential diagnosis in ptosis and ophthalmoplegia: Mitochondrial disease or myasthenia? [11] | 2007 |
|
Professor Bobby McFarland
Professor Patrick Chinnery
Dr Andrew Schaefer
Dr Andrew Morris
Sharon Foster
et al. | Homoplasmy, heteroplasmy, and mitochondrial dystonia | 2007 |
|
Dr Julie Murphy
Professor Robert Taylor
Dr Andrew Schaefer
| M.P.3.08 Resistance exercise training in mitochondrial myopathy due to single, large-scale deletions: Implications for therapy | 2007 |
|
Professor Gavin Hudson
Dr Andrew Schaefer
Professor Robert Taylor
Watcharee Tiangyou
Professor David Burn
et al. | Mutation of the Linker Region of the Polymerase {gamma}-1 (POLG1) Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism | 2007 |
|
Professor Gavin Hudson
Dr Andrew Schaefer
Professor Robert Taylor
Professor David Burn
Emeritus Professor Doug Turnbull
et al. | Mutation of the linker region of the polymerase γ-1 (POLG1) gene associated with progressive external ophthalmoplegia and parkinsonism | 2007 |
|
Professor Roger Whittaker
Dr Andrew Schaefer
Professor Bobby McFarland
Professor Robert Taylor
Professor Mark Walker
et al. | Prevalence and progression of diabetes in mitochondrial disease | 2007 |
|
Professor Robert Taylor
Dr Andrew Schaefer
Dr Langping He
Professor Bobby McFarland
Professor Roger Whittaker
et al. | [abstract] The prevalence of pathogenic mitochondrial DNA mutations in adults | 2006 |
|
Dr Andrew Schaefer
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
| A scale to monitor progression and treatment of mitochondrial disease in children | 2006 |
|
Dr Julie Murphy
Professor Robert Taylor
Dr Andrew Schaefer
Dr Joseph Newman
Dr Martin Barron
et al. | Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions | 2006 |
|
Dr Andrew Schaefer
Dr Joanna Elson
Professor Bobby McFarland
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
et al. | Mitochondrial disease in adults: A scale to monitor progression and treatment | 2006 |
|
Dr Susan Betts
Dr Evelyn Jaros
Emeritus Professor Robert Perry
Dr Andrew Schaefer
Professor Robert Taylor
et al. | Molecular neuropathology of MELAS: Level of heteroplasmy in individual neurones and evidence of extensive vascular involvement | 2006 |
|
Professor Gavin Hudson
Professor Robert Taylor
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
et al. | POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions | 2006 |
|
Dr Andrew Schaefer
| Trial of dichloroacetate in MELAS: Toxicity overshadows the assessment of potential benefit | 2006 |
|
Dr Anna Mitchell
Dr Andrew Schaefer
Dr Margaret Jackson
Emeritus Professor Doug Turnbull
Professor Robert Taylor
et al. | A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast | 2005 |
|
Dr Martin Barron
Professor Patrick Chinnery
Denise Howel
Dr Andrew Schaefer
Professor Robert Taylor
et al. | Cytochrome c oxidase deficient muscle fibres: Substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy | 2005 |
|
Dr Terence Smith
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
Philip Griffiths
| Ocular motility findings in chronic progressive external ophthalmoplegia | 2005 |
|
Dr Andrew Schaefer
Philip Griffiths
Emeritus Professor Doug Turnbull
Professor Robert Taylor
| Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis | 2005 |
|
Dr Andrew Schaefer
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
| Timelines in mitochondrial DNA disease: Genotypes, phenotypes, and disease progression | 2005 |
|
Dr Andrew Schaefer
Dr Julie Murphy
Dr Martin Barron
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al. | Treating the untreatable: Exercise induced stem cell activation as a novel treatment for mitochondrial myopathy | 2005 |
|
Professor Robert Taylor
Dr Andrew Schaefer
Christine Hayes
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
et al. | Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene | 2004 |
|
Professor Bobby McFarland
Dr Andrew Schaefer
Dr Julie Murphy
Dr Stephen Lynn
Christine Hayes
et al. | Familial Myopathy: New Insights into the T14709C Mitochondrial tRNA Mutation | 2004 |
|
Dr Andrew Schaefer
Professor Bobby McFarland
Professor Patrick Chinnery
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al. | Mitochondrial disease: new prevalence figures with major resource implications | 2004 |
|
Professor Robert Taylor
Professor Patrick Chinnery
Professor Robert Lightowlers
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
et al. | Mitochondrial DNA deletion in "identical" twin brothers | 2004 |
|
Dr Langping He
Professor Robert Taylor
Professor Patrick Chinnery
Professor Robert Lightowlers
Dr Andrew Schaefer
et al. | Mitochondrial DNA deletion in identical twins | 2004 |
|
Professor Patrick Chinnery
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
Professor Robert Taylor
| No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation | 2004 |
|
Dr Andrew Schaefer
Professor Bobby McFarland
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
Professor Robert Taylor
et al. | Nonivasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells | 2004 |
|
Dr Andrew Schaefer
Dr Martin Barron
Philip Griffiths
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al. | Ophthalmoplegia: When all the tests are negative | 2004 |
|
Professor Gavin Hudson
Dr Andrew Schaefer
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
et al. | Sensory ataxic neuropathy due to a novel C10Orf2 (Twinkle) gene mutation with germline mosaicism | 2004 |
|
Professor Robert Taylor
Dr Andrew Schaefer
Dr Martin Barron
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
et al. | The diagnosis of mitochondrial muscle disease | 2004 |
|
Professor Patrick Chinnery
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
| The epidemiology of mitochondrial disorders | 2004 |
|
Dr Andrew Schaefer
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
| The epidemiology of mitochondrial disorders - past, present and future | 2004 |
|
Joanne Betts
Dr Evelyn Jaros
Emeritus Professor Robert Perry
Dr Andrew Schaefer
Dr Martin Barron
et al. | The neuropathology of mitochondrial DNA disorders | 2004 |
|
Dr Andrew Schaefer
Professor Bobby McFarland
Dr Julie Murphy
Dr Stephen Lynn
Christine Hayes
et al. | Familial mitochondrial myopathy: New insights into the T14709C mitochondrial tRNA mutation | 2003 |
|
Professor Patrick Chinnery
Professor Robert Taylor
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
| Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO) | 2003 |
|
Dr David Cottrell
Dr Andrew Schaefer
Dr Gillian Borthwick
Emeritus Professor Robert Perry
Emeritus Professor Doug Turnbull
et al. | Neuronal apoptosis occurs in patients with mitochondrial DNA disorders | 2003 |
|
Philip Griffiths
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
| Ocular motility findings in chronic progressive external ophthalmoplegia | 2003 |
|
Professor Robert Taylor
Dr Andrew Schaefer
Professor Bobby McFarland
Emeritus Professor Doug Turnbull
| A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy | 2002 |
|
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Professor Bobby McFarland
Dr Andrew Schaefer
| Defects of the mitochondrial genome | 2002 |
|
Dr Andrew Schaefer
Professor Robert Taylor
Professor Patrick Chinnery
| Mitochondrial disease and symptom progression: A complex management issue | 2002 |
|
