Patrick F Chinnery

Summary

Affiliation: University of Newcastle
Country: UK

Publications

  1. pmc Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations
    Gerald Pfeffer
    From the Institute of Genetic Medicine G P, P Y W M, P F C, Newcastle Institute of Neurology A B, University College London and Department of Clinical Neurosciences D A S C, University of Cambridge, UK
    Neurology 81:2073-81. 2013
  2. pmc Epigenetics, epidemiology and mitochondrial DNA diseases
    Patrick F Chinnery
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    Int J Epidemiol 41:177-87. 2012
  3. pmc Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON
    Gavin Hudson
    Institute for Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Mitochondrion 11:620-2. 2011
  4. doi request reprint POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts
    Joanna D Stewart
    Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Biochim Biophys Acta 1812:321-5. 2011
  5. 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
  6. pmc Pathogenic mitochondrial DNA mutations are common in the general population
    Hannah R Elliott
    Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, UK
    Am J Hum Genet 83:254-60. 2008
  7. pmc Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers
    Matthew G D Bates
    Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
    Eur Heart J Cardiovasc Imaging 14:650-8. 2013
  8. pmc What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
    Vivienne C M Neeve
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Brain 135:3614-26. 2012
  9. pmc Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
    Gerald Pfeffer
    Institute of Genetic Medicine, Central Parkway, Newcastle, UK
    J Neurol Neurosurg Psychiatry 83:883-6. 2012
  10. pmc Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy
    Gavin Hudson
    Institute for Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Mol Vis 16:2760-4. 2010

Detail Information

Publications70

  1. pmc Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations
    Gerald Pfeffer
    From the Institute of Genetic Medicine G P, P Y W M, P F C, Newcastle Institute of Neurology A B, University College London and Department of Clinical Neurosciences D A S C, University of Cambridge, UK
    Neurology 81:2073-81. 2013
    ..To determine whether the association between multiple sclerosis (MS) and Leber hereditary optic neuropathy (LHON) (known as "Harding disease") is a chance finding, or the 2 disorders are mechanistically linked...
  2. pmc Epigenetics, epidemiology and mitochondrial DNA diseases
    Patrick F Chinnery
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    Int J Epidemiol 41:177-87. 2012
    ..These observations open the door to future studies investigating the role of mtDNA methylation in human disease...
  3. pmc Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON
    Gavin Hudson
    Institute for Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Mitochondrion 11:620-2. 2011
    ..Our findings suggest that genetic variation in MAPT is unlikely to make a major contribution to the risk of blindness among LHON mutation carriers...
  4. doi request reprint POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts
    Joanna D Stewart
    Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Biochim Biophys Acta 1812:321-5. 2011
    ....
  5. 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. ..
  6. pmc Pathogenic mitochondrial DNA mutations are common in the general population
    Hannah R Elliott
    Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, UK
    Am J Hum Genet 83:254-60. 2008
    ..The exclusive detection of m.14484T-->C on haplogroup J implicates the background mtDNA haplotype in mutagenesis. These findings emphasize the importance of developing new approaches to prevent transmission...
  7. pmc Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers
    Matthew G D Bates
    Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
    Eur Heart J Cardiovasc Imaging 14:650-8. 2013
    ..Screening strategies for cardiac disease are unclear. We investigated whether myocardial abnormalities could be identified in mitochondrial DNA mutation carriers without clinical cardiac involvement...
  8. pmc What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
    Vivienne C M Neeve
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Brain 135:3614-26. 2012
    ..Our results suggest that the mitochondrial DNA background plays an important role in modifying the disease phenotype but nuclear modifiers, epigenetic and environmental factors may also influence the severity of disease...
  9. pmc Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
    Gerald Pfeffer
    Institute of Genetic Medicine, Central Parkway, Newcastle, UK
    J Neurol Neurosurg Psychiatry 83:883-6. 2012
    ..The authors report two families with onset of ataxia in adulthood (with pyramidal dysfunction and/or peripheral neuropathy variably present), who are clinically indistinguishable from other spinocerebellar ataxia patients...
  10. pmc Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy
    Gavin Hudson
    Institute for Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Mol Vis 16:2760-4. 2010
    ....
  11. pmc Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization
    Angela Pyle
    Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle upon Tyne, UK
    J Neurogenet 27:176-82. 2013
    ....
  12. pmc Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency
    Veronika Boczonadi
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Hum Mol Genet 22:4602-15. 2013
    ..Our results show that l-cysteine supplementation is a potential treatment for RIRCD and for TRMU deficiency, and is likely to have broader application for the growing group of intra-mitochondrial translation disorders. ..
  13. pmc The prevalence and natural history of dominant optic atrophy due to OPA1 mutations
    Patrick Yu-Wai-Man
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, UK
    Ophthalmology 117:1538-46, 1546.e1. 2010
    ..To define the prevalence and natural history of this optic nerve disorder, we performed a population-based epidemiologic and molecular study of presumed DOA cases in the north of England...
  14. ncbi request reprint Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
    Gerald Pfeffer
    Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK
    J Neurol Neurosurg Psychiatry 85:331-8. 2014
    ..Some of the original patients had features resembling myofibrillar myopathy (MFM), arguing that TTN mutations could be a much more common cause of inherited muscle disease, especially in presence of early respiratory involvement...
  15. ncbi request reprint Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3
    Rita Horvath
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    J Neurol Neurosurg Psychiatry 83:174-8. 2012
    ..Inherited ataxias are heterogeneous disorders affecting both children and adults. The primary cause can be identified in about half of the patients and only very few can receive causative therapy...
  16. pmc Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT
    Vivienne C M Neeve
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Mitochondrion 13:743-8. 2013
    ..Our data illustrate that exome sequencing is an excellent diagnostic tool, and its value in clinical medicine is enormous, however it can only be optimally exploited if combined with detailed phenotyping and functional studies. ..
  17. ncbi request reprint Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy
    Achilles Spyropoulos
    Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, England
    JAMA Neurol 70:1552-5. 2013
    ..The phenotypic heterogeneity is partly owing to different percentage levels of mutant mtDNA heteroplasmy in different tissues, but the factors influencing this are poorly understood...
  18. ncbi request reprint New treatments for mitochondrial disease-no time to drop our standards
    Gerald Pfeffer
    Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Ageing and Health, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    Nat Rev Neurol 9:474-81. 2013
    ..In this Perspectives article, we make recommendations for the design of future treatment trials in mitochondrial diseases. Patients and physicians should no longer rely on potentially biased data, with the associated costs and risks. ..
  19. pmc Universal heteroplasmy of human mitochondrial DNA
    Brendan A I Payne
    Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastleupon Tyne NE1 3BZ, UK
    Hum Mol Genet 22:384-90. 2013
    ..Ostensibly de novo somatic mtDNA mutations, seen in mtDNA maintenance disorders and neurodegenerative disease and aging, will partly be due to the clonal expansion of low-level inherited variants...
  20. pmc Diagnosis and treatment of mitochondrial myopathies
    Gerald Pfeffer
    Institute of Genetic Medicine, Newcastle University, Newcastle NE13BZ, United Kingdom
    Ann Med 45:4-16. 2013
    ..Emphasis is placed on practical management considerations while including some recent updates in the field...
  21. pmc Genetic variations within the OPA1 gene are not associated with neuromyelitis optica
    Kamil S Sitarz
    Mitochondrial Research Group, Institute of Genetic Medicine, Newcastle University, UK
    Mult Scler 18:240-3. 2012
    ..We therefore screened for OPA1 in 32 patients with NMO. No pathogenic mutations were found, and none of the 13 single-nucleotide polymorphisms identified were associated with an increased risk of developing NMO...
  22. 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...
  23. ncbi request reprint An investigation of mitochondrial haplogroups in autism
    Lindsey Kent
    Developmental Psychiatry, University of Cambridge, Cambridge, UK
    Am J Med Genet B Neuropsychiatr Genet 147:987-9. 2008
    ..The mtDNA haplogroup was determined in 162 autism probands, and compared to two sets of population controls. Results show no compelling evidence of an association of any mitochondrial haplogroup in autism...
  24. ncbi request reprint A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy
    Rita Horvath
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    Mov Disord 27:789-93. 2012
    ..Neurodegeneration with brain iron accumulation is clinically and genetically heterogeneous because of mutations in at least 7 nuclear genes...
  25. ncbi request reprint X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy
    Gavin Hudson
    Mitochondrial Research Group, Newcastle University, UK
    Mol Vis 13:2339-43. 2007
    ..Small studies have failed to detect dramatic skewed X-inactivation in women transmitting LHON mutations. However, segregation analyses predicted skewing only in a proportion of women, which would not have been detected in these studies...
  26. pmc Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy
    Gavin Hudson
    Mitochondrial Research Group, Institute of Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
    Mol Vis 15:870-5. 2009
    ..Folate deficiency is known to cause bilateral optic neuropathy, and defects of folate metabolism have been associated with nonarteritic ischemic optic neuropathy...
  27. pmc Characterizing mild cognitive impairment in incident Parkinson disease: the ICICLE-PD study
    Alison J Yarnall
    From the Institute for Ageing and Health A J Y, G W D, M J F, D J B, Industrial Statistics Research Unit S Y C, and Institute of Genetic Medicine G H, P F C, Newcastle University John van Geest Centre for Brain Repair D P B, J R E, R A B, Department of Clinical Neurosciences C N, S W R, J B R, Behavioural and Clinical Neuroscience Institute C N, S W R, J B R, T W R, MRC Cognition and Brain Sciences Unit C N, S W R, J B R, Departments of Psychiatry J T O and Psychology T W R, University of Cambridge, UK School of Medicine T K K, Griffith University, Australia Paracelsus Elena Klinik B M, Kassel, and Göttingen University Institute for Neuropathology N K, Prion and Dementia Research Unit, University Medical Centre Göttingen, Germany Centre for Human Psychopharmacology K W, Swinburne University, Melbourne, Australia and Department of Medicine D J W, Stockholm
    Neurology 82:308-16. 2014
    ..To describe the frequency of mild cognitive impairment (MCI) in Parkinson disease (PD) in a cohort of newly diagnosed incident PD cases and the associations with a panel of biomarkers...
  28. ncbi request reprint Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing
    Angela Pyle
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, England
    Arch Neurol 69:1351-4. 2012
    ..To determine the genetic basis of an unexplained multisystem neurological disorder affecting 2 siblings...
  29. pmc Titin mutation segregates with hereditary myopathy with early respiratory failure
    Gerald Pfeffer
    Institute of Genetic Medicine, Central Parkway, Newcastle, NE1 3BZ, UK
    Brain 135:1695-713. 2012
    ..With 363 exons, screening TTN presented a major challenge until recently. However, whole exome sequencing provides a reliable cost-effective approach, providing the gene of interest is adequately captured...
  30. ncbi request reprint Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome
    Sophie E Winder-Rhodes
    Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK
    Mov Disord 27:312-5. 2012
    ..We explored genetic links between these disorders and studied the pathology of Sanfilippo syndrome to investigate a common pathway toward α-synuclein aggregation...
  31. ncbi request reprint What causes mitochondrial DNA deletions in human cells?
    Kim J Krishnan
    Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Nat Genet 40:275-9. 2008
    ..This conclusion has important implications for prevention of mtDNA disease and, potentially, for our understanding of the aging process...
  32. pmc Disorders of the optic nerve in mitochondrial cytopathies: new ideas on pathogenesis and therapeutic targets
    Kamil S Sitarz
    Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle, UK
    Curr Neurol Neurosci Rep 12:308-17. 2012
    ..There are currently limited treatments for these blinding ocular disorders and, ultimately, the aim is to translate these major advances into tangible benefits for patients and their families...
  33. ncbi request reprint The implications of mitochondrial DNA copy number regulation during embryogenesis
    Phillippa J Carling
    Mitochondrial Research Group, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Mitochondrion 11:686-92. 2011
    ..Here we review current understanding of the factors regulating the amount of mtDNA within cells and discuss the relevance of these findings to our understanding of the inheritance of mtDNA heteroplasmy...
  34. pmc Mitochondrial DNA haplogroups and risk of transient ischaemic attack and ischaemic stroke: a genetic association study
    Patrick F Chinnery
    Mitochondrial Research Group, Institute for Ageing and Health and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Lancet Neurol 9:498-503. 2010
    ..We investigated whether there is an association between mtDNA haplotypes and incidence of stroke...
  35. 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
    ....
  36. ncbi request reprint Neuroferritinopathy
    Michael J Keogh
    Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom
    Int Rev Neurobiol 110:91-123. 2013
    ..This chapter summarizes the genetic etiology, pathological, radiological, and clinical data from all published data to date and suggested potential new avenues for therapy. ..
  37. pmc Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old
    Joanna Collerton
    Institute for Ageing and Health, Newcastle University, Campus for Ageing and Vitality, Newcastle upon Tyne NE4 5PL, UK
    Neurobiol Aging 34:2889.e1-4. 2013
    ..Conflicting data from different populations underscore our conclusion that there is currently no compelling link between inherited mtDNA variants and aging. ..
  38. pmc No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls
    Gavin Hudson
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Ann Rheum Dis 72:136-9. 2013
    ..Initial studies implicate maternally inherited variants of mitochondrial DNA (mtDNA) in subgroups of patients with OA based on gender and specific joint involvement, but these findings have not been replicated...
  39. pmc Unique mitochondrial DNA in highly inbred feral cattle
    Gavin Hudson
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Mitochondrion 12:438-40. 2012
    ..Random population sampling of ~10% of the extant herd identified a single mtDNA haplotype harbouring a unique bovine variant present in all other higher mammals (m.11789C/Y421H) which may contribute to their survival...
  40. doi request reprint A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes
    Lynsey M Cree
    Mitochondrial Research Group, Newcastle University, Newcastle NE2 4HH, UK
    Nat Genet 40:249-54. 2008
    ....
  41. pmc Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity
    Joanna D Stewart
    Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, UK
    Hepatology 52:1791-6. 2010
    ..Therapeutic doses of VPA inhibited human cellular proliferation and high doses caused nonapoptotic cell death, which was not mediated through mitochondrial DNA depletion, mutation, or a defect of fatty acid metabolism...
  42. pmc Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies
    Patrick Yu-Wai-Man
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, UK
    Prog Retin Eye Res 30:81-114. 2011
    ..The ultimate goal is to translate these research advances into clinical practice and new treatment strategies are currently being investigated to improve the visual prognosis for patients with mitochondrial optic neuropathies...
  43. pmc Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations
    Brendan A I Payne
    Mitochondrial Research Group, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Nat Genet 43:806-10. 2011
    ..These observations add weight to the role of somatic mtDNA mutations in the aging process and raise the specter of progressive iatrogenic mitochondrial genetic disease emerging over the next decade...
  44. pmc Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease
    Gavin Hudson
    Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Neurology 80:2042-8. 2013
    ..Our aim was to resolve these inconsistencies and determine whether mtDNA has a significant role in the risk of developing PD...
  45. pmc Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases
    Gavin Hudson
    Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, United Kingdom
    PLoS Genet 10:e1004369. 2014
    ....
  46. pmc Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts
    Kamil S Sitarz
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ UK
    Mol Genet Metab 112:57-63. 2014
    ....
  47. pmc In vivo mitochondrial function in HIV-infected persons treated with contemporary anti-retroviral therapy: a magnetic resonance spectroscopy study
    Brendan A I Payne
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom Department of Infection and Tropical Medicine, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom
    PLoS ONE 9:e84678. 2014
    ..Basal energy requirements may nevertheless be increased. ..
  48. pmc Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
    Kieren G Hollingsworth
    Newcastle Magnetic Resonance Centre, Institute of Cellular Medicine, Newcastle University, Campus for Ageing and Vitality, NE4 5PL, UK
    Neuromuscul Disord 22:592-6. 2012
    ..3243A>G. The early detection of cardiac dysfunction with MRI opens up opportunities to prevent heart failure in these patients through early intervention...
  49. pmc Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis
    Angela Pyle
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle, NE2 4HH, UK
    Intensive Care Med 36:956-62. 2010
    ..We have investigated the cellular basis of the mtDNA depletion in sepsis, and determined clinical correlates with mtDNA depletion...
  50. ncbi request reprint Treatment for mitochondrial disorders
    Gerald Pfeffer
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Cochrane Database Syst Rev 4:CD004426. 2012
    ..This major update was carried out to identify new studies and grade the original studies for potential bias in accordance with revised Cochrane Collaboration guidelines...
  51. ncbi request reprint Hereditary mtDNA heteroplasmy: a baseline for aging?
    Michael Keogh
    Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Cell Metab 18:463-4. 2013
    ..2013) show that inherited mtDNA point mutations lead to a premature aging phenotype in mice and "prime" the maternal lineage, interacting with subsequent somatic mutations to cause brain malformations and shorten lifespan...
  52. 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...
  53. ncbi request reprint 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands
    Patrick F Chinnery
    Mitochondrial Research Group and Institutes of Neuroscience and Human Genetics, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Neuromuscul Disord 18:259-67. 2008
  54. pmc Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
    Robert D S Pitceathly
    MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
    Brain 135:3392-403. 2012
    ....
  55. pmc Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
    Fiona L M Norwood
    Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Brain 132:3175-86. 2009
    ..The study also illustrates the immense diagnostic progress since the first regional survey over 50 years ago by Walton and Nattrass...
  56. pmc A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy
    Thomas Klopstock
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Brain 134:2677-86. 2011
    ....
  57. ncbi request reprint EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
    Veronika Boczonadi
    1 Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK 2
    Nat Commun 5:4287. 2014
    ..These findings show the central role of the exosomal pathway in neurodegenerative disease. ..
  58. doi request reprint Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6
    Patrick Yu-Wai-Man
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    J Neurol 256:78-82. 2009
    ..These findings demonstrate phenotypic overlap between SCA6 and episodic ataxia type 2, which are both due to mutations in CACNL1A4...
  59. pmc A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure
    Gerald Pfeffer
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle NE1 3BZ, United Kingdom Department of Neurology, Royal Victoria Infirmary, Queen Victoria Road, Newcastle NE1 4LP, United Kingdom
    Neuromuscul Disord 24:241-4. 2014
    ..This proves that the p.C30071R mutation itself (rather than the haplotype containing this mutation) causes hereditary myopathy with early respiratory failure and suggests its independent origin in different ethnic groups. ..
  60. pmc A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization
    Kieren T Lythgow
    Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Mitochondrion 11:444-9. 2011
    ..This approach will help to accelerate the identification of new mitochondrial disease genes by providing a principled way for the selection for combination of appropriate prediction methods of mitochondrial localization of proteins...
  61. pmc Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease
    Marzena Kurzawa-Akanbi
    Medical Toxicology Centre, Wolfson Building, Newcastle University, Newcastle upon Tyne, UK
    J Neurochem 123:298-309. 2012
    ..The results indicate that mutation in GBA leads to additional lysosomal abnormalities, enhanced by an impaired UPR, potentially causing α-synuclein accumulation...
  62. pmc Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G
    Steve E Durham
    Mitochondrial Research Group, Newcastle University, Newcastle, UK
    Am J Hum Genet 81:189-95. 2007
    ....
  63. pmc Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    Gavin Hudson
    Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Am J Hum Genet 81:228-33. 2007
    ..Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder...
  64. ncbi request reprint Mitochondrial myopathies: developments in treatment
    Adam Hassani
    Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Curr Opin Neurol 23:459-65. 2010
    ..Existing therapies continue to be evaluated and novel treatment strategies are starting to appear on the horizon...
  65. pmc Neuroferritinopathy: a new inborn error of iron metabolism
    Michael J Keogh
    Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Neurogenetics 13:93-6. 2012
    ..All three harbouring the pathogenic c.460InsA mutation showed iron deposition; these findings show pathological iron accumulation begins in early childhood which is of major importance in understanding and developing treatment for NBIA...
  66. ncbi request reprint Mutations in SUCLA2: a tandem ride back to the Krebs cycle
    Patrick F Chinnery
    Mitochondrial Research Group and Institute of Human Genetics, Newcastle University, The Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Brain 130:606-9. 2007
  67. ncbi request reprint Current concepts and controversies in neurodegeneration with brain iron accumulation
    Michael J Keogh
    Mitochondrial Research Group, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK
    Semin Pediatr Neurol 19:51-6. 2012
    ..Herein, we summarize current concepts of NBIA pathogenesis and discuss important gaps in current knowledge, outlining key questions in the field...
  68. ncbi request reprint Neuroferritinopathy
    John Burn
    Institute of Human Genetics, Newcastle University, Newcastle on Tyne, UK
    Semin Pediatr Neurol 13:176-81. 2006
    ....
  69. pmc Distinct critical cerebellar subregions for components of verbal working memory
    Freya E Cooper
    Institute of Neuroscience, Newcastle University, UK
    Neuropsychologia 50:189-97. 2012
    ..The work confirms the involvement of the cerebellum in verbal working memory and defines specific subsystems for this within the cerebellum...