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Species | R McFarlandSummaryAffiliation: University of Newcastle Country: UK Publications
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Publications
Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutationRobert 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...- The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathyRobert 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... - Homoplasmy, heteroplasmy, and mitochondrial dystoniaR 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... 
Batteries not included: diagnosis and management of mitochondrial diseaseR 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...- 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... - Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) geneR 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... - Prevalence of mitochondrial DNA disease in adultsAndrew 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... - Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutationsH 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... - A scale to monitor progression and treatment of mitochondrial disease in childrenC 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... - Prevalence and progression of diabetes in mitochondrial diseaseR 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... - Mitochondrial disease in adults: a scale to monitor progression and treatmentA 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... - Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and childrenJ 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... - Mitochondrial disease--its impact, etiology, and pathologyR 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... 
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathyRita 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...- 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 - Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyJohn P Kemp
Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
Brain 134:183-95. 2011.... - A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathyRobert 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... - The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotypeCharlotte 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... - De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiencyRobert 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... - A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysisRobert 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... - Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenanceGavin 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... - Multi-system neurological disease is common in patients with OPA1 mutationsP Yu-Wai-Man
Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
Brain 133:771-86. 2010.... - Familial myopathy: new insights into the T14709C mitochondrial tRNA mutationRobert 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... - 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... - Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutationHelen 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... - Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutationJoanna 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... - Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cellsMartina 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... - The diagnosis of mitochondrial muscle diseaseRobert 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... - Abnormal growth in mitochondrial diseaseS 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... - Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutationEmma 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... - Neuromuscular disease presentation with three genetic defects involving two genomesMazhor 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... - A neurological perspective on mitochondrial diseaseRobert McFarland
Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
Lancet Neurol 9:829-40. 2010.... - The neurology of mitochondrial DNA diseaseRobert 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... - The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesHelen 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... - Mitochondrial diseases in childhood: a clinical approach to investigation and managementJill 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... - Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enoughRobert 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.... - Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita 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... - Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutationEmma L Blakely
J Neurol 254:1283-5. 2007