Andrew M Schaefer

Summary

Affiliation: Freeman Hospital
Country: UK

Publications

  1. pmc Endocrine disorders in mitochondrial disease
    Andrew M Schaefer
    Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK Electronic address
    Mol Cell Endocrinol 379:2-11. 2013
  2. ncbi request reprint Prevalence of mitochondrial DNA disease in adults
    Andrew M Schaefer
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, Newcastle University, Newcastle upon Tyne, United Kingdom
    Ann Neurol 63:35-9. 2008
  3. doi request reprint Resistance training in patients with single, large-scale deletions of mitochondrial DNA
    Julie L Murphy
    Mitochondrial Research Group, Newcastle University, Framlington Place, Newcastle upon Tyne, UK
    Brain 131:2832-40. 2008
  4. pmc Epilepsy in adults with mitochondrial disease: A cohort study
    Roger G Whittaker
    Institute of Neuroscience, Henry Wellcome Building for Neuroecology, Newcastle University, Newcastle upon Tyne, United Kingdom
    Ann Neurol 78:949-57. 2015
  5. pmc Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
    Grainne S Gorman
    Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom Institute of Neuroscience, Henry Wellcome Building for Neuroecology, Newcastle upon Tyne, United Kingdom
    Ann Neurol 77:753-9. 2015
  6. pmc Mitochondrial donation--how many women could benefit?
    Grainne S Gorman
    Newcastle University, Newcastle upon Tyne, United Kingdom
    N Engl J Med 372:885-7. 2015
  7. pmc Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
    Gerald Pfeffer
    1 Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Brain 137:1323-36. 2014
  8. doi request reprint Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28
    Grainne S Gorman
    Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, England2Institute for Ageing and Health, National Institute for Health Research Biomedical Research Centre for Ageing, Newcastle University, Newcastle upon Tyne, Englan
    JAMA Neurol 72:106-11. 2015
  9. pmc Disease progression in patients with single, large-scale mitochondrial DNA deletions
    John P Grady
    1 Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
    Brain 137:323-34. 2014
  10. ncbi request reprint Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance
    Gavin Hudson
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Brain 131:329-37. 2008

Collaborators

Detail Information

Publications12

  1. pmc Endocrine disorders in mitochondrial disease
    Andrew M Schaefer
    Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK Electronic address
    Mol Cell Endocrinol 379:2-11. 2013
    ....
  2. ncbi request reprint Prevalence of mitochondrial DNA disease in adults
    Andrew M Schaefer
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, Newcastle University, Newcastle upon Tyne, United Kingdom
    Ann Neurol 63:35-9. 2008
    ..Consequently, the aim of this study was to accurately define the prevalence of mtDNA disease (primary mutation occurs in mtDNA) in the working-age population of the North East of England...
  3. doi request reprint Resistance training in patients with single, large-scale deletions of mitochondrial DNA
    Julie L Murphy
    Mitochondrial Research Group, Newcastle University, Framlington Place, Newcastle upon Tyne, UK
    Brain 131:2832-40. 2008
    ....
  4. pmc Epilepsy in adults with mitochondrial disease: A cohort study
    Roger G Whittaker
    Institute of Neuroscience, Henry Wellcome Building for Neuroecology, Newcastle University, Newcastle upon Tyne, United Kingdom
    Ann Neurol 78:949-57. 2015
    ..The aim of this work was to determine the prevalence and progression of epilepsy in adult patients with mitochondrial disease...
  5. pmc Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
    Grainne S Gorman
    Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom Institute of Neuroscience, Henry Wellcome Building for Neuroecology, Newcastle upon Tyne, United Kingdom
    Ann Neurol 77:753-9. 2015
    ..We comprehensively assessed the prevalence of all forms of adult mitochondrial disease to include pathogenic mutations in both nuclear and mtDNA...
  6. pmc Mitochondrial donation--how many women could benefit?
    Grainne S Gorman
    Newcastle University, Newcastle upon Tyne, United Kingdom
    N Engl J Med 372:885-7. 2015
    ..The authors provide estimates of the number of affected pregnancies per year in the United Kingdom and the United States. ..
  7. pmc Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
    Gerald Pfeffer
    1 Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Brain 137:1323-36. 2014
    ..The complex neurological phenotype is likely a result of the clonal expansion of secondary mitochondrial DNA mutations modulating the phenotype, driven by compensatory mitochondrial biogenesis. ..
  8. doi request reprint Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28
    Grainne S Gorman
    Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, England2Institute for Ageing and Health, National Institute for Health Research Biomedical Research Centre for Ageing, Newcastle University, Newcastle upon Tyne, Englan
    JAMA Neurol 72:106-11. 2015
    ....
  9. pmc Disease progression in patients with single, large-scale mitochondrial DNA deletions
    John P Grady
    1 Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
    Brain 137:323-34. 2014
    ....
  10. ncbi request reprint Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance
    Gavin Hudson
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Brain 131:329-37. 2008
    ..This demonstrates the importance of OPA1 in mtDNA maintenance, and implicates OPA1 in diseases associated with secondary defects of mtDNA...
  11. ncbi request reprint Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone?
    Roger G Whittaker
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, Newcastle University, Newcastle upon Tyne, UK
    Diabetes Care 30:2238-9. 2007
  12. pmc Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences
    Brook Galna
    Clinical Ageing Research Unit, Campus for Ageing and Vitality, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
    J Neurol 261:73-82. 2014
    ..Discrete gait characteristics may help describe functional deficits in mitochondrial disease, enhance measures of disease severity and pathology, and could be used to document treatment effects of novel therapies. ..