R McFarland

Summary

Affiliation: University of Newcastle
Country: UK

Publications

  1. ncbi request reprint Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation
    Robert McFarland
    Departments of Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Nat Genet 30:145-6. 2002
  2. ncbi request reprint The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management
    Victoria Nesbitt
    Wellcome Trust Centre for Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
    J Neurol Neurosurg Psychiatry 84:936-8. 2013
  3. ncbi request reprint Batteries not included: diagnosis and management of mitochondrial disease
    R McFarland
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, Newcastle University, Newcastle upon Tyne, UK
    J Intern Med 265:210-28. 2009
  4. ncbi request reprint Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1)
    R McFarland
    Newcastle upon Tyne NHS Hospitals Trust, Newcastle upon Tyne, UK
    Arch Dis Child 93:151-3. 2008
  5. ncbi request reprint Homoplasmy, heteroplasmy, and mitochondrial dystonia
    R McFarland
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Neurology 69:911-6. 2007
  6. ncbi request reprint The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy
    Robert McFarland
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    Neuromuscul Disord 18:63-7. 2008
  7. ncbi request reprint Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene
    R W Taylor
    Mitochondrial Research Group, School of Neurology, Neurobiology, and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK
    Neurology 62:1420-3. 2004
  8. 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
  9. ncbi request reprint Prevalence and progression of diabetes in mitochondrial disease
    R G Whittaker
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Diabetologia 50:2085-9. 2007
  10. ncbi request reprint A scale to monitor progression and treatment of mitochondrial disease in children
    C Phoenix
    Mitochondrial Research Group, 4th Floor, The Medical School, Framlington Place, University of Newcastle upon Tyne, UK
    Neuromuscul Disord 16:814-20. 2006

Collaborators

Detail Information

Publications40

  1. ncbi request reprint Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation
    Robert McFarland
    Departments of Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Nat Genet 30:145-6. 2002
    ..The mother is clinically normal, but a severe biochemical and molecular genetic defect was present in both a fatally affected child and the mother. This family highlights the role of homoplasmic mt-tRNA mutations in genetic disease...
  2. ncbi request reprint The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management
    Victoria Nesbitt
    Wellcome Trust Centre for Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
    J Neurol Neurosurg Psychiatry 84:936-8. 2013
    ..Many patients affected by this mutation exhibit a clinical phenotype that does not fall within accepted criteria for the currently recognised classical mitochondrial syndromes...
  3. ncbi request reprint Batteries not included: diagnosis and management of mitochondrial disease
    R McFarland
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, Newcastle University, Newcastle upon Tyne, UK
    J Intern Med 265:210-28. 2009
    ..In this review we shall focus on the diagnosis and management of mitochondrial diseases that lead directly or indirectly to disruption of the process of oxidative phosphorylation...
  4. ncbi request reprint Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1)
    R McFarland
    Newcastle upon Tyne NHS Hospitals Trust, Newcastle upon Tyne, UK
    Arch Dis Child 93:151-3. 2008
    ..Sequencing of the mitochondrial polymerase gamma gene (POLG1) revealed four heterozygous substitutions, two of which have been identified in cases of Alpers-Huttenlocher disease...
  5. ncbi request reprint Homoplasmy, heteroplasmy, and mitochondrial dystonia
    R McFarland
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Neurology 69:911-6. 2007
    ..A mitochondrial etiology was considered in each case because of the association of dystonia with other less prominent clinical features such as epilepsy...
  6. ncbi request reprint The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy
    Robert McFarland
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    Neuromuscul Disord 18:63-7. 2008
    ..This report is therefore the first description of the phenotype associated solely with this mutation and confirms its pathogenicity...
  7. ncbi request reprint Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene
    R W Taylor
    Mitochondrial Research Group, School of Neurology, Neurobiology, and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK
    Neurology 62:1420-3. 2004
    ..This G12147A transition is heteroplasmic, predicted to disrupt a highly conserved base pair, and segregates with the cytochrome c oxidase deficiency in single muscle fibers...
  8. 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...
  9. ncbi request reprint Prevalence and progression of diabetes in mitochondrial disease
    R G Whittaker
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Diabetologia 50:2085-9. 2007
    ..3243A>G mutation...
  10. ncbi request reprint A scale to monitor progression and treatment of mitochondrial disease in children
    C Phoenix
    Mitochondrial Research Group, 4th Floor, The Medical School, Framlington Place, University of Newcastle upon Tyne, UK
    Neuromuscul Disord 16:814-20. 2006
    ..We anticipate that use of this tool will facilitate both longitudinal natural history studies and the assessment of future therapeutic interventions...
  11. ncbi request reprint Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations
    H A L Tuppen
    Mitochondrial Research Group, Department of Neurology, Medical School, Newcastle University, Newcastle upon Tyne, UK
    J Med Genet 45:55-61. 2008
    ..These mutations must conform to specific pathogenic criteria, documenting unequivocally a functional defect of the mutant mt-tRNA...
  12. pmc Initial development and validation of a mitochondrial disease quality of life scale
    J L Elson
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    Neuromuscul Disord 23:324-9. 2013
    ..NMQ is a valuable assessment tool and consists of 63 items within 16 unidimensional domains, each demonstrating good internal reliability (Cronbach's α≥0.83) and construct validity...
  13. ncbi request reprint Mitochondrial disease in adults: a scale to monitor progression and treatment
    A M Schaefer
    Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
    Neurology 66:1932-4. 2006
    ..In this article, the authors describe the development and validation of a practical and semiquantitative rating scale, the Newcastle Mitochondrial Disease Adult Scale...
  14. ncbi request reprint Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
    J D Stewart
    Mitochondrial Research Group, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK
    J Med Genet 46:209-14. 2009
    ..Mutations in POLG1 have been linked to a spectrum of clinical phenotypes, and may account for up to 25% of all adult presentations of mitochondrial disease...
  15. ncbi request reprint Mitochondrial disease--its impact, etiology, and pathology
    R McFarland
    Mitochondrial Research Group, School of Neurology, Neurobiology, and Psychiatry, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, United Kingdom
    Curr Top Dev Biol 77:113-55. 2007
    ..In this chapter, we discuss these issues and offer our own views based on our cumulative experience of investigating and managing these diseases over the last 20 years...
  16. pmc Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
    Rita Horvath
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK
    Brain 132:3165-74. 2009
    ..This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis...
  17. 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
  18. ncbi request reprint A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy
    Robert W Taylor
    Department of Neurology, The Medical School, University of Newcastle upon Tyne, Framlington Place, NE2 4HH, Newcastle upon Tyne, UK
    Neuromuscul Disord 12:659-664. 2002
    ..Moreover, we were unable to detect the A4267G mutation in lymphocytes, buccal epithelia and hair of the patient's mother and two siblings, implying that the A4267G transition represents a sporadic, germline mutation...
  19. pmc Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
    John P Kemp
    Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Brain 134:183-95. 2011
    ....
  20. ncbi request reprint De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
    Robert McFarland
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, United Kingdom
    Ann Neurol 55:58-64. 2004
    ..Mitochondrial DNA disease may be considerably more prevalent in the pediatric population than currently predicted and should be considered in patients with infantile mitochondrial encephalopathies and complex I deficiency...
  21. 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...
  22. ncbi request reprint A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis
    Robert McFarland
    Mitochondrial Research Group, Department of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Framlington Place, NE2 4HH, UK
    Neuromuscul Disord 14:162-6. 2004
    ..We believe that this study demonstrates the importance of whole mitochondrial genome sequencing and of access to large sequence databases...
  23. ncbi request reprint The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype
    Charlotte L Alston
    Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK
    Neuromuscul Disord 20:403-6. 2010
    ..3243A>T mutation with COX deficiency...
  24. pmc Multi-system neurological disease is common in patients with OPA1 mutations
    P Yu-Wai-Man
    Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Brain 133:771-86. 2010
    ....
  25. ncbi request reprint Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?
    Joanna L Elson
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Hum Mutat 30:E984-92. 2009
    ..This is entirely compatible with recent observations on the mitochondrial genetic bottleneck in early development and has important implications for families with mt-tRNA disease...
  26. pmc Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation
    Joanna Rorbach
    Mitochondrial Research Group, Institute of Neuroscience, Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK
    Nucleic Acids Res 36:3065-74. 2008
    ..These data indicate that variations in the levels of VARS2L between tissue types and patients could underlie the difference in clinical presentation between individuals homoplasmic for the 1624C>T mutation...
  27. ncbi request reprint Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation
    Helen A L Tuppen
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK
    Mol Genet Metab 100:345-8. 2010
    ..Our data indicate that BCS1L mutations can cause a variable, neurological course which is not always fatal in childhood...
  28. ncbi request reprint Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation
    Robert McFarland
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, United Kingdom
    Ann Neurol 55:478-84. 2004
    ..Furthermore, variation in phenotype between homoplasmic individuals implies a crucial contribution from the nuclear genetic environment in determining the clinical outcome of mt-tRNA mutations...
  29. ncbi request reprint Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells
    Martina T McDonnell
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne, UK
    Eur J Hum Genet 12:778-81. 2004
    ..These data strongly support the use of urinary epithelial cells as the tissue of choice in the noninvasive diagnosis of the 3243A > G mutation...
  30. ncbi request reprint The diagnosis of mitochondrial muscle disease
    Robert W Taylor
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Neuromuscul Disord 14:237-45. 2004
    ..Here, we describe a step-by-step approach to the clinical and laboratory diagnosis of mitochondrial muscle disease, highlighting the many potential problems that can hinder reaching the correct diagnosis...
  31. doi request reprint Abnormal growth in mitochondrial disease
    S Wolny
    Department of Paediatrics, Royal Victoria Infirmary, Newcastle upon Tyne, UK
    Acta Paediatr 98:553-4. 2009
    ..To review the height and weight of children with mitochondrial disease attending our supra-regional service...
  32. ncbi request reprint Neuromuscular disease presentation with three genetic defects involving two genomes
    Mazhor Al-Dosary
    Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK
    Neuromuscul Disord 19:841-4. 2009
    ..Muscle biopsy revealed many COX-deficient fibres which we show contain high levels of a third genetic defect--a novel, mitochondrial tRNA(Leu(CUN)) (MTTL2) gene mutation...
  33. ncbi request reprint A neurological perspective on mitochondrial disease
    Robert McFarland
    Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
    Lancet Neurol 9:829-40. 2010
    ....
  34. ncbi request reprint Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation
    Emma L Blakely
    Mitochondrial Research Group, School of Neurology, Neurobiology, and Psychiatry, The Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK
    J Neurol Sci 225:99-103. 2004
    ..This report further confirms the frequent association of mitochondrial tRNA mutation with neurological presentations, even in paediatric cases...
  35. ncbi request reprint The neurology of mitochondrial DNA disease
    Robert McFarland
    Department of Neurology, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Lancet Neurol 1:343-51. 2002
    ..In addition, we have included clinical guidance on the investigation and management of patients with suspected or proven mitochondrial disease based on our own experience over the past decade...
  36. ncbi request reprint Mitochondrial diseases in childhood: a clinical approach to investigation and management
    Jill Edith Kisler
    Department of Paediatric Neurology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
    Dev Med Child Neurol 52:422-33. 2010
    ..The aim of this review is to provide paediatric neurologists, paediatricians, and allied health professionals with a structured approach to the diagnosis and management of children with suspected or confirmed mitochondrial disease...
  37. pmc The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families
    Helen A L Tuppen
    Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne, UK
    Brain 133:2952-63. 2010
    ..Our results confirm that NDUFS2 is a mutational hotspot in Caucasian children with isolated complex I deficiency and recommend the routine diagnostic investigation of this gene in patients with Leigh or Leigh-like phenotypes...
  38. ncbi request reprint Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough
    Robert McFarland
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne NE2 4HH, UK
    Trends Genet 20:591-6. 2004
    ....
  39. ncbi request reprint Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene
    Rita Horvath
    Metabolic Diseases Centre, Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing Munich, Germany
    Brain 129:1674-84. 2006
    ..1399G-->A (A467T) is common in children, but complete POLG1 sequencing is required to identify multiple mutations that can have complex implications for genetic counselling...
  40. ncbi request reprint Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation
    Emma L Blakely
    J Neurol 254:1283-5. 2007