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Browsing publications by Dr Andrew Schaefer.

Newcastle AuthorsTitleYearFull text
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
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
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 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
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
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 Deficiency2020
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 Ataxia2019
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 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 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 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 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
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 Simao Cruz
Dr Andrew Schaefer
Clinical Reasoning: A 71-year-old woman with subacute progressive distal weakness and paresthesia after vaccination2017
Dr Yi Ng
Professor Robert Taylor
Dr Andrew Schaefer
Diabetes Mellitus in Mitochondrial Disease2017
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
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 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
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 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
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 dystroglycanopathies2015
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 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 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 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 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
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
Dr Andrew Schaefer
Professor Mark Walker
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Endocrine disorders in 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 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
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 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
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
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 deletions2011
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 deletions2009
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 Disease2009
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 mutation2008
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 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
Dr Julie Murphy
Dr Andrew Schaefer
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Resistance training in patients with single, large-scale deletions of mitochondrial DNA2008
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 mutation2007
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 dystonia2007
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 therapy2007
Dr 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 Parkinsonism2007
Dr 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 parkinsonism2007
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
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 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 deletions2006
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
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 involvement2006
Dr 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 deletions2006
Dr Andrew Schaefer
Trial of dichloroacetate in MELAS: Toxicity overshadows the assessment of potential benefit2006
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 yeast2005
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 myopathy2005
Dr Terence Smith
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
Philip Griffiths
Ocular motility findings in chronic progressive external ophthalmoplegia2005
Dr Andrew Schaefer
Philip Griffiths
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis2005
Dr Andrew Schaefer
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Timelines in mitochondrial DNA disease: Genotypes, phenotypes, and disease progression2005
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 myopathy2005
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
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
Professor Robert Taylor
Professor Patrick Chinnery
Professor Robert Lightowlers
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
et al.
Mitochondrial DNA deletion in "identical" twin brothers2004
Dr Langping He
Professor Robert Taylor
Professor Patrick Chinnery
Professor Robert Lightowlers
Dr Andrew Schaefer
et al.
Mitochondrial DNA deletion in identical twins2004
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 mutation2004
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
Dr Andrew Schaefer
Dr Martin Barron
Philip Griffiths
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al.
Ophthalmoplegia: When all the tests are negative2004
Dr 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 mosaicism2004
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 Patrick Chinnery
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
The epidemiology of mitochondrial disorders2004
Dr Andrew Schaefer
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
The epidemiology of mitochondrial disorders - past, present and future2004
Joanne Betts
Dr Evelyn Jaros
Emeritus Professor Robert Perry
Dr Andrew Schaefer
Dr Martin Barron
et al.
The neuropathology of mitochondrial DNA disorders2004
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 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 disorders2003
Philip Griffiths
Dr Andrew Schaefer
Emeritus Professor Doug Turnbull
Ocular motility findings in chronic progressive external ophthalmoplegia2003
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
Dr Andrew Schaefer
Professor Robert Taylor
Professor Patrick Chinnery
Mitochondrial disease and symptom progression: A complex management issue2002