Cathy E Woodward

Cathy E Woodward

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Cathy E Woodward

Cathy E Woodward

Publications by authors named "Cathy E Woodward"

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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

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

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

J Inherit Metab Dis 2015 May 29;38(3):445-57. Epub 2014 Oct 29.

Genetic Medicine, Central Manchester University Hospitals NHS Foundation trust, St Mary's Hospital, 6th Floor, Oxford Road, Manchester, M 13 9WL, UK.

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http://dx.doi.org/10.1007/s10545-014-9778-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432108PMC
May 2015

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

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

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