Research Topics
Genomes and Genes | Kevin TalbotSummaryAffiliation: University of Oxford Country: UK Publications
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Publications
Development of a patient reported outcome measure for fatigue in motor neurone disease: the Neurological Fatigue Index (NFI-MND)Chris J Gibbons
Walton Centre for Neurology and Neurosurgery, Lower Lane, Liverpool, UK
Health Qual Life Outcomes 9:101. 2011..Fatigue was defined as reversible motor weakness and whole-body tiredness that was predominantly brought on by muscular exertion and was partially relieved by rest...- Rasch analysis of the hospital anxiety and depression scale (HADS) for use in motor neurone diseaseChris J Gibbons
Walton Centre for Neurology and Neurosurgery, Lower Lane, Liverpool, UK
Health Qual Life Outcomes 9:82. 2011..This study seeks to analyse the construct validity of the HADS in MND by fitting its data to the Rasch model... - Motor neurone diseaseK Talbot
Department of Clinical Neurology, Radcliffe Infirmary, Oxford OX2 6HE, UK
Postgrad Med J 78:513-9. 2002..If, as seems likely, complex inherited and environmental factors contribute to the pathogenesis of MND, future treatment may involve a combination of molecular based treatments or restoration of cellular integrity using stem cell grafts... 
Is good housekeeping the key to motor neuron survival?Kevin Talbot
MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, UK
Cell 133:572-4. 2008..Reporting in this issue, Zhang et al. (2008) challenge prior assumptions about the housekeeping function of SMN and demonstrate that loss of SMN leads to highly tissue-specific effects on splicing...
Neuromuscular disorders: therapeutic advancesKevin Talbot
Department of Clinical Neurology, University of Oxford, Radcliffe Infirmary, Oxford, OX2 6HE, UK
Lancet Neurol 6:18-9. 2007- Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative diseaseKevin Talbot
Department of Physiology, Anatomy and Genetics, University of Oxford, Henry Wellcome Building of Gene Function, South Parks Road, Oxford OX1 3QX, UK
Hum Mol Genet 15:R182-7. 2006..Pure ALS, through ALS with cognitive impairment and ALS-FTD to pure FTD-U, may represent a continuous spectrum of ubiquitin-associated neurodegenerative disease... - TDP-43 expression in mouse models of amyotrophic lateral sclerosis and spinal muscular atrophyBradley J Turner
University of Oxford, MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, South Parks Road, Oxford, OX1 3QX, UK
BMC Neurosci 9:104. 2008..Here, we characterise TDP-43 localisation, expression levels and post-translational modifications in mouse models of ALS and spinal muscular atrophy (SMA)... - Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse modelBradley J Turner
MRC Functional Genomics Unit, University of Oxford, Department of Physiology, Anatomy and Genetics, Oxford, UK
Neurobiol Dis 34:511-7. 2009..We therefore propose that SMN replacement and upregulation strategies considered for SMA therapy may have protective potential for ALS... - Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophyDirk Bäumer
MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, United Kingdom
PLoS Genet 5:e1000773. 2009.... - Dismutase-competent SOD1 mutant accumulation in myelinating Schwann cells is not detrimental to normal or transgenic ALS model miceBradley J Turner
MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, John Radcliffe Hospital, University of Oxford, Oxford OX1 3QX, UK
Hum Mol Genet 19:815-24. 2010..We conclude that dismutase-competent mutant SOD1 accumulation within Schwann cells is not pathological to spinal motor neurons or deleterious to disease course in transgenic ALS model mice, in contrast to astrocytes and microglia... - The molecular genetics of non-ALS motor neuron diseasesPaul A James
Department of Physiology, Anatomy and Genetics, Oxford University, Oxford, UK
Biochim Biophys Acta 1762:986-1000. 2006..We review the clinical and molecular features of this diverse group of genetically determined conditions and consider the implications for the broad group of motor neuron diseases in general... - The role of RNA processing in the pathogenesis of motor neuron degenerationDirk Bäumer
MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, OX1 3QX, UK
Expert Rev Mol Med 12:e21. 2010..Complete understanding of how these pathways interact and elucidation of specialised mechanisms for mRNA targeting and processing in motor neurons are likely to produce new targets for therapy in ALS and related disorders... - Cardiovascular fitness as a risk factor for amyotrophic lateral sclerosis: indirect evidence from record linkage studyMartin R Turner
Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK
J Neurol Neurosurg Psychiatry 83:395-8. 2012..Hospital admission for coronary heart disease (CHD) might serve as an objective marker of reduced cardiovascular fitness... - Pattern of spread and prognosis in lower limb-onset ALSMartin R Turner
Oxford University Department of Clinical Neurology, Oxford, UK
Amyotroph Lateral Scler 11:369-73. 2010..The time interval to this initial spread is a powerful factor in predicting overall survival, and could be used to facilitate decision-making and effective care planning... - The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophyJames N Sleigh
MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX, UK
Dis Model Mech 4:457-67. 2011.... - Whole-brain magnetic resonance spectroscopic imaging measures are related to disability in ALSCharlotte J Stagg
Centre for Functional Magnetic Resonance of the Brain, University of Oxford, UK
Neurology 80:610-5. 2013.... - A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoesSteven Ackerley
Department of Human Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK
Hum Mol Genet 15:347-54. 2006..These findings suggest a possible pathogenic mechanism for HSPB1 whereby the mutation may lead to preferential motor neuron loss by disrupting selective components essential for axonal structure and transport... - The diagnostic pathway and prognosis in bulbar-onset amyotrophic lateral sclerosisMartin R Turner
Oxford University Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK
J Neurol Sci 294:81-5. 2010..Diagnostic delay is a common occurrence in ALS, and many BO patients report having attended other specialist clinics prior to diagnosis... - Biomarkers in amyotrophic lateral sclerosisMartin R Turner
Department of Clinical Neurology, University of Oxford, Oxford, UK
Lancet Neurol 8:94-109. 2009..Such biomarkers might also resolve complexities of phenotypic heterogeneity in clinical trials. In this Review, we discuss the development of biomarkers in ALS and consider potential future directions for research... - Age-dependent and -independent behavioral deficits in Tg2576 miceR M J Deacon
Department of Experimental Psychology, University of Oxford, South Parks Road, Oxford OX1 3UD, UK
Behav Brain Res 189:126-38. 2008..However, this model might perform better behaviorally on a different genetic background... - Magnetic resonance imaging of pathological processes in rodent models of amyotrophic lateral sclerosisMatthew C Evans
Oxford University Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK
Amyotroph Lateral Scler 13:288-301. 2012..These are potentially important steps towards the ultimate goal of human therapeutic translation... - HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomesAlice S Kwok
MRC Functional Genomics Unit, Department of Anatomy Physiology and Genetics, University of Oxford, South Parks Road, Oxford, UK
J Neurochem 119:1155-61. 2011..We conclude that defects in HspB8-mediated autophagy are likely to contribute to dHMNII pathology and their detection in peripheral blood mononuclear cells could be a useful, accessible biomarker for the disease... - Integration of structural and functional magnetic resonance imaging in amyotrophic lateral sclerosisGwenaelle Douaud
Oxford Centre for Functional Magnetic Resonance of the Brain FMRIB, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DU, UK
Brain 134:3470-9. 2011.... - Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALSBradley J Turner
MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, UK
Prog Neurobiol 85:94-134. 2008..This review summarises the wealth of known genetic and therapeutic modifiers in rodent models with SOD1 mutations and discusses these in the wider context of ALS pathoetiology and treatment... - Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophyMuhammed Z Cader
Henry Wellcome Building for Gene Function, MRC Functional Genetics Unit, University of Oxford, South Parks Road, Oxford OX1 3QX, United Kingdom
FEBS Lett 581:2959-64. 2007..Reduced enzyme activity may underlie neuronal degeneration, although a dominant-negative effect is more likely in this autosomal dominant disorder... - Head and other physical trauma requiring hospitalisation is not a significant risk factor in the development of ALSMartin R Turner
Oxford University Department of Clinical Neurology, John Radcliffe Hospital, Oxford, OX3 9DU, UK
J Neurol Sci 288:45-8. 2010..The high risk of head injury observed in the immediate post-diagnosis period may be amenable to primary prevention... - Spinal muscular atrophies reveal motor neuron vulnerability to defects in ribonucleoprotein handlingKirstie Anderson
Department of Human Anatomy and Genetics, University of Oxford and Department of Clinical Neurology, Radcliffe Infirmary, Oxford, UK
Curr Opin Neurol 16:595-9. 2003..In addition we can expect to learn much about basic neuronal biology and about the pathways that are relevant to more common neurodegenerative disorders such as amyotrophic lateral sclerosis... - Activation of mutant protein kinase Cgamma leads to aberrant sequestration and impairment of its cellular functionGraeme Doran
MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, UK
Biochem Biophys Res Commun 372:447-53. 2008..These studies suggest that Purkinje cell damage in SCA14 may result from a reduction of PKCgamma activity due its aberrant sequestration in the early endosome compartment... - A case of celiac disease mimicking amyotrophic lateral sclerosisMartin R Turner
Department of Neurology, John Radcliffe Hospital, Oxford, UK
Nat Clin Pract Neurol 3:581-4. 2007..The thigh muscle in the affected leg showed signs of wasting. The patient had a remote family history of celiac disease... - Functional vitamin B12 deficiencyMartin R Turner
Department of Neurology, John Radcliffe Hospital, University of Oxford, Oxford, UK
Pract Neurol 9:37-41. 2009..Such patients may respond to repeated high-dose injections of B12... - Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disordersN J Parkinson
University of Oxford, MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, Henry Wellcome Centre for Gene Function, South Parks Road, Oxford OX1 3QX, UK
Neuromuscul Disord 18:394-7. 2008..This study indicates that mutations in these genes do not contribute significantly to the cause of motor neuron diseases in the human population... - Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27)P A James
MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK
J Neurol Neurosurg Psychiatry 79:461-3. 2008..Expression of this and other known mutations in cell culture demonstrated enhanced aggregation of mutant HSPB1 protein compared with wild-type... - Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophyLyndsay M Murray
Centre for Integrative Physiology, University of Edinburgh Medical School, Edinburgh EH8 9XD, UK
Hum Mol Genet 17:949-62. 2008.... - Musculoskeletal diseases: from complex genetics to therapyKevin Talbot
Curr Opin Pharmacol 3:277-9. 2003 - The study of rare diseases: butterfly collecting or an entrée to understanding common conditions?Kevin Talbot
Pract Neurol 7:210-1. 2007 - Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathyOleg V Evgrafov
Department of Psychiatry, New York State Psychiatric Institute Research Foundation for Mental Hygiene, Unit 28, 1051 Riverside Drive, New York, New York 10032, USA
Nat Genet 36:602-6. 2004..Cotransfection of neurofilament light chain (NEFL) and mutant HSPB1 resulted in altered neurofilament assembly in cells devoid of cytoplasmic intermediate filaments...