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Author Details

Andrew M Schaefer
Newcastle upon Tyne Hospitals NHS Foundation Trust
2001
77
37
PMIDPaper TitleJournal TitlePublished Year
37567761Leigh syndrome: an adult presentation of a paediatric disease.Pract Neurol2024
37013609Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.EMBO Mol Med2023
34927673Forecasting stroke-like episodes and outcomes in mitochondrial disease.Brain2022
36518302Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy.BMJ Neurol Open2022
35962550Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.Neuropathol Appl Neurobiol2022
34325999A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity.Neuromuscul Disord2021
33842062Neuromuscular Junction Abnormalities in Mitochondrial Disease: An Observational Cohort Study.Neurol Clin Pract2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34161705Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.N Engl J Med2021
31600844Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.Clin Genet2020
31781911Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls.Acta Neuropathol2020
32158465Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency.Front Genet2020
30423112Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.J Clin Endocrinol Metab2019
32090171Consensus-based statements for the management of mitochondrial stroke-like episodes.Wellcome Open Res2019
31187502Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.Ann Neurol2019
31167410A Novel Pathogenic Variant in <i>MT-CO2</i> Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.J Clin Med2019
31139680Cognitive deficits in adult m.3243A&gt;G- and m.8344A&gt;G-related mitochondrial disease: importance of correcting for baseline intellectual ability.Ann Clin Transl Neurol2019
29298851Atypical periodic paralysis and myalgia: A novel <i>RYR1</i> phenotype.Neurology2018
29735722mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A&gt;G mitochondrial disease.EMBO Mol Med2018
29560378Phenotypic heterogeneity in m.3243A&gt;G mitochondrial disease: The role of nuclear factors.Ann Clin Transl Neurol2018
29506874MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.EBioMedicine2018
29283441Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.Ann Neurol2018
29264394Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.Neurol Genet2017
28438848Clinical Reasoning: A 71-year-old woman with subacute progressive distal weakness and paresthesia after vaccination.Neurology2017
28395030Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.JAMA Neurol2017
26188002Sudden adult death syndrome in m.3243A&gt;G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.Eur Heart J2016
27506553The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.Sci Rep2016
27453452Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.Ann Neurol2016
27111573Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.JAMA Neurol2016
25207879The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.Kidney Int2015
26381753Epilepsy in adults with mitochondrial disease: A cohort study.Ann Neurol2015
26265210Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T&gt;C "NARP" mutation.Mov Disord2015
27858754Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.J Neuromuscul Dis2015
27858729Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease.J Neuromuscul Dis2015
26133662Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.Brain2015
25652200Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.Ann Neurol2015
25420100Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.JAMA Neurol2015
24150688Discrete gait characteristics are associated with m.3243A&gt;G and m.8344A&gt;G variants of mitochondrial disease and its pathological consequences.J Neurol2014
24727571Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.Brain2014
24277717Disease progression in patients with single, large-scale mitochondrial DNA deletions.Brain2014
23769710Endocrine disorders in mitochondrial disease.Mol Cell Endocrinol2013
24198295Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.Neurology2013
23742928Defining cardiac adaptations and safety of endurance training in patients with m.3243A&gt;G-related mitochondrial disease.Int J Cardiol2013
23107649Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.Brain2012
21646632RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.Neurology2011
21907311Rapid-onset, linezolid-induced lactic acidosis in MELAS.Mitochondrion2011
19187065Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions.Neuropathol Appl Neurobiol2009
17886296Prevalence of mitochondrial DNA disease in adults.Ann Neurol2008
18984605Resistance training in patients with single, large-scale deletions of mitochondrial DNA.Brain2008
18391161Gastrointestinal tract involvement associated with the 3243A&gt;G mitochondrial DNA mutation.Neurology2008
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Collaborators

Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 65
Newcastle University
Co-authored papers 61
Newcastle University
Co-authored papers 41
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 35
School of Clinical Medicine, University of Cambridge
Co-authored papers 26
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 21
School of Clinical Medicine, University of Cambridge
Co-authored papers 10
Population Health Sciences Institute, Newcastle University
Co-authored papers 4
University of Cambridge
Co-authored papers 4
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Translational and Clinical Research Institute, Newcastle University
Co-authored papers 2
Institute of Neurology, University College London (UCL)
Co-authored papers 2
UCL Great Ormond Street Institute of Child Health, University College London
Co-authored papers 2
The Institute of Neurology, National Hospital for Neurology and Neurosurgery
Co-authored papers 2
Translational and clinical research, Newcastle University Faculty of Medical Sciences
Co-authored papers 2
University of Cambridge
Co-authored papers 2
Alder Hey Children's NHS Foundation Trust
Co-authored papers 2
UCL Great Ormond Street Institute of Child Health
Co-authored papers 2
Guy's Hospital
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UCL Great Ormond Street Institute of Child Health
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Cambridge University Hospitals NHS Foundation Trust
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Vanderbilt University
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Queen Mary University of London
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Institute of Genetic Medicine, International Centre for Life
Co-authored papers 1
Guy's and St Thomas' Hospital
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William Harvey Research Institute, Queen Mary University of London
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Oxford University Hospitals NHS Foundation Trust
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