Robert D S Pitceathly

Robert D S Pitceathly

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Robert D S Pitceathly

Robert D S Pitceathly

Publications by authors named "Robert D S Pitceathly"

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34Publications

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Drug repurposing in neurological diseases: an integrated approach to reduce trial and error.

J Neurol Neurosurg Psychiatry 2019 Nov 6;90(11):1270-1275. Epub 2019 Jun 6.

MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK

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http://dx.doi.org/10.1136/jnnp-2019-320879DOI Listing
November 2019

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.

Mitochondrion 2019 Jul 8;47:294-297. Epub 2019 Feb 8.

MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15677249183017
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http://dx.doi.org/10.1016/j.mito.2019.02.004DOI Listing
July 2019

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in -Related Diseases.

J Clin Med 2019 07 8;8(7). Epub 2019 Jul 8.

MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

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http://dx.doi.org/10.3390/jcm8070991DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679130PMC
July 2019

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Neurol Genet 2019 Apr 1;5(2):e322. Epub 2019 Apr 1.

Department of Neuromuscular Diseases (A.H., A.C., M.G.H., M.M.R.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Molecular Neuroscience (A.M.P., H.H.), UCL Queen Square Institute of Neurology; Department of Neuro-ophthalmology (F.B.F.R.C.O.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Division of Neuropathology (Z.J., S.B.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Department of Clinical and Movement Neurosciences (Z.J.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (L.D., S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Human Genetics and Hussman Institute for Human Genomics (A.P.R., S.Z.), University of Miami, FL; Department of Neurogenetics (C.E.W., J.M.P.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; Neurometabolic Unit (I.P.H.), the National Hospital for Neurology and Neurosurgery, University College London Hospitals; and Department of Neurodegenerative Disease (S.B.), UCL Queen Square Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501639PMC
April 2019

NDUFA4 (Renamed COXFA4) Is a Cytochrome-c Oxidase Subunit.

Trends Endocrinol Metab 2018 07 7;29(7):452-454. Epub 2018 Apr 7.

Department of Clinical Neurosciences, UCL Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.tem.2018.03.009DOI Listing
July 2018

Clinicopathologic and molecular spectrum of -related mitochondrial disease.

Neurol Genet 2017 Jun 2;3(3):e149. Epub 2017 May 2.

MRC Centre for Neuromuscular Diseases (E.B., O.V.P., A.M., A.H., J.L.H., H.H., M.G.H., R.D.S.P.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (A.M., A.M.P., J.L.H., H.H., M.G.H.), Division of Neuropathology (J.L.H.), Department of Clinical Neuroscience (J.-W.T., A.S., I.J.H.), UCL Institute of Neurology; Neurometabolic Unit (I.H.), Neurogenetics Unit (C.E.W., M.G.S.), Department of Neuro-ophthalmology (G.T.P.), National Hospital for Neurology and Neurosurgery, London; Nuffield Department of Obstetrics and Gynaecology (J.P.), University of Oxford; MRC-Mitochondrial Biology Unit (M.Z.), Cambridge, UK; Unit of Molecular Neurogenetics (D.G.), Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan, Italy; Oxford Medical Genetics Laboratories (J.T., C.S., C.F.), Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, UK; Department of Neurology (M.A.K.), Nizam's Institute of Medical Sciences; CSIR-Centre for Cellular and Molecular Biology (A.P., K.T.), Hyderabad, Telangana, India; MRC Mill Hill Laboratory (I.J.H.), London, UK; Biodonostia Research Institute (I.J.H.), San Sebastián, Spain; and Department of Basic and Clinical Neuroscience (R.D.S.P.), Institute of Psychiatry, Psychology and Neuroscience, King's College London, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413961PMC
June 2017

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Neuromuscul Disord 2016 08 11;26(8):504-10. Epub 2016 May 11.

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2016.05.006DOI Listing
August 2016

Mitochondrial Extrapyramidal Syndromes: Using Age and Phenomenology to Guide Genetic Testing.

JAMA Neurol 2016 06;73(6):630-2

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, England2Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College Lon.

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http://dx.doi.org/10.1001/jamaneurol.2016.0756DOI Listing
June 2016

Interventions for dysphagia in long-term, progressive muscle disease.

Cochrane Database Syst Rev 2016 Feb 9;2:CD004303. Epub 2016 Feb 9.

Department of Neurology, King's College Hospital NHS Foundation Trust, 9th floor Ruskin Wing, Denmark Hill, London, UK, SE5 9RS.

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http://dx.doi.org/10.1002/14651858.CD004303.pub4DOI Listing
February 2016

Extra-ocular muscle MRI in genetically-defined mitochondrial disease.

Eur Radiol 2016 Jan 21;26(1):130-7. Epub 2015 May 21.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s00330-015-3801-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666274PMC
January 2016

Mitochondrial disorders: disease mechanisms and therapeutic approaches.

Discov Med 2015 Nov;20(111):325-31

MRC Centre for Neuromuscular Diseases, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, United Kingdom.

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November 2015

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.

Kidney Int 2015 Mar 10;87(3):610-22. Epub 2014 Sep 10.

Medical Research Council Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College London Institute of Neurology, London, UK.

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http://dx.doi.org/10.1038/ki.2014.297DOI Listing
March 2015

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Brain 2014 Dec 3;137(Pt 12):3200-12. Epub 2014 Oct 3.

1 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1093/brain/awu279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240292PMC
December 2014

Mitochondrial myopathies in adults and children: management and therapy development.

Curr Opin Neurol 2014 Oct;27(5):576-82

aDepartment of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London bWellcome Trust Centre for Mitochondrial Research, Newcastle University and NUTH NHS Foundation Trust, Newcastle upon Tyne, UK.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/WCO.0000000000000126DOI Listing
October 2014

Whole-genome sequencing and the clinician: a tale of two cities.

J Neurol Neurosurg Psychiatry 2014 Sep 4;85(9):1012-5. Epub 2014 Apr 4.

MRC Centre for Neuromuscular Diseases, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/jnnp-2013-306264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145416PMC
September 2014

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.

J Neurol Neurosurg Psychiatry 2014 May 6;85(5):486-92. Epub 2013 Nov 6.

Department of Molecular Neuroscience and Reta Lila Weston Research Laboratories, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, , London, UK.

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http://dx.doi.org/10.1136/jnnp-2013-306387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995331PMC
May 2014

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

JAMA Neurol 2013 Dec;70(12):1556-61

Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, England13Department of Molecular Neuroscience, University College London Institute o.

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http://dx.doi.org/10.1001/jamaneurol.2013.3242DOI Listing
December 2013

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

J Neurol Neurosurg Psychiatry 2013 Aug 25;84(8):936-8. Epub 2013 Jan 25.

Wellcome Trust Centre for Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp-2012-303528
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http://dx.doi.org/10.1136/jnnp-2012-303528DOI Listing
August 2013

Muscle MRI in Bethlem myopathy.

BMJ Case Rep 2013 Apr 16;2013. Epub 2013 Apr 16.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/bcr-2013-008596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3645630PMC
April 2013

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations.

J Neurol Neurosurg Psychiatry 2013 Jan 29;84(1):107-10. Epub 2012 Aug 29.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/jnnp-2012-303232DOI Listing
January 2013

Toward a mtDNA locus-specific mutation database using the LOVD platform.

Hum Mutat 2012 Sep 2;33(9):1352-8. Epub 2012 Jul 2.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/humu.22118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394605PMC
September 2012

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.

J Med Genet 2011 Sep 4;48(9):610-7. Epub 2011 Mar 4.

1MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/jmg.2010.088328DOI Listing
September 2011

A dizzy and disorientated DJ.

Pract Neurol 2011 Aug;11(4):252-5

Department of Neurology, Ninewells Hospital, Dundee, UK.

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http://dx.doi.org/10.1136/practneurol-2011-000065DOI Listing
August 2011

Copper deficiency: an unusual case of myelopathy with neuropathy.

Ann Clin Biochem 2008 Jul;45(Pt 4):434-5

University Hospital of South Manchester, Southmoor Road, Wythenshawe, Manchester M23 9LT, UK.

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http://dx.doi.org/10.1258/acb.2008.007218DOI Listing
July 2008