Robert W Taylor

Robert W Taylor

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Robert W Taylor

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A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Neuromuscul Disord 2019 Sep 21;29(9):693-697. Epub 2019 Aug 21.

Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

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http://dx.doi.org/10.1016/j.nmd.2019.08.005DOI Listing
September 2019

Resolving complexity in mitochondrial disease: Towards precision medicine.

Mol Genet Metab 2019 Sep 14. Epub 2019 Sep 14.

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

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http://dx.doi.org/10.1016/j.ymgme.2019.09.003DOI Listing
September 2019

A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes.

Mitochondrion 2019 Jul 22;47:18-23. Epub 2019 Apr 22.

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2019.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617384PMC
July 2019

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.

J Clin Endocrinol Metab 2019 Jun;104(6):2057-2066

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, United Kingdom.

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-00957DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469958PMC
June 2019

Mitochondrial Donation - Which Women Could Benefit?

N Engl J Med 2019 05;380(20):1971-1972

Newcastle University, Newcastle Upon Tyne, United Kingdom

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http://dx.doi.org/10.1056/NEJMc1808565DOI Listing
May 2019

Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual ability.

Ann Clin Transl Neurol 2019 May 27;6(5):826-836. Epub 2019 Mar 27.

Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne NE2 4HH United Kingdom.

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http://dx.doi.org/10.1002/acn3.736DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6529924PMC
May 2019

Recent advances in understanding the molecular genetic basis of mitochondrial disease.

J Inherit Metab Dis 2019 Apr 25. Epub 2019 Apr 25.

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1002/jimd.12104DOI Listing
April 2019

Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions.

Nat Commun 2019 02 15;10(1):759. Epub 2019 Feb 15.

Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, Gothenburg, SE-405 30, Sweden.

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http://dx.doi.org/10.1038/s41467-019-08673-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377680PMC
February 2019

Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.

Brain Pathol 2019 01 9;29(1):97-113. Epub 2018 Oct 9.

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1111/bpa.12640DOI Listing
January 2019

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network.

Cell Rep 2019 01 15;26(4):996-1009.e4. Epub 2019 Jan 15.

Department of Psychiatry, Division of Behavioral Medicine, Columbia University Irving Medical Center, New York, NY, USA; Department of Neurology and Columbia Translational Neuroscience Initiative, H. Houston Merritt Center, Columbia University Irving Medical Center, New York, NY, USA; Columbia University Aging Center, Columbia University, New York, NY, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22111247193001
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http://dx.doi.org/10.1016/j.celrep.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6513570PMC
January 2019

Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations.

J Pathol 2018 12 5;246(4):427-432. Epub 2018 Nov 5.

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1002/path.5156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282723PMC
December 2018

Expanding the phenotype of de novo -linked mitochondrial disease to include mild myopathy.

Neurol Genet 2018 Aug 20;4(4):e256. Epub 2018 Jul 20.

Medical Research Council Mitochondrial Biology Unit (M.S.K., E.R.S.K.), University of Cambridge, Wellcome Trust/MRC Building, Cambridge Biomedical Campus, UK; Wellcome Centre for Mitochondrial Research (K.T., S.H., L.H., R.W.D.), Institute of Neuroscience, Newcastle University, UK; and Department of Neurology (X.R.O.), Perelman School of Medicine, Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, University of Pennsylvania.

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http://dx.doi.org/10.1212/NXG.0000000000000256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055355PMC
August 2018

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Neurol Genet 2018 08 1;4(4):e262. Epub 2018 Aug 1.

Genome Damage and Stability Centre (G.Z-V., K.W.C.), University of Sussex, Falmer, Brighton, United Kingdom; Wellcome Centre for Mitochondrial Research (F.B., K.T., L.H., R.T.), Institute of Neuroscience, Newcastle University, Tyne, United Kingdom; Sussex Drug Discovery Centre (S.W.), University of Sussex, Falmer, Brighton, United Kingdom; Department of Human Genetics (A.P.M.d.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; and Medical Genetics (A.P.M.d.B., D.N.), Ochsner Health Center for Children, New Orleans, LA.

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http://dx.doi.org/10.1212/NXG.0000000000000262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089694PMC
August 2018

A novel histochemistry assay to assess and quantify focal cytochrome c oxidase deficiency.

J Pathol 2018 07 14;245(3):311-323. Epub 2018 May 14.

Max Planck Institute for Biology of Ageing, Cologne, Germany.

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http://dx.doi.org/10.1002/path.5084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032845PMC
July 2018

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Am J Hum Genet 2018 07;103(1):100-114

IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; The Scripps Laboratories for tRNA Synthetase Research, The Scripps Research Institute, 10650 North Torrey Pines Road, La Jolla, CA 92037, USA; The Scripps Laboratories for tRNA Synthetase Research, Scripps Florida, 130 Scripps Way, Jupiter, FL 33458, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035289PMC
July 2018

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.

Hum Mol Genet 2018 05;27(10):1743-1753

Wellcome Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1093/hmg/ddy080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932559PMC
May 2018

Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.

Neuromuscul Disord 2018 04 23;28(4):350-360. Epub 2017 Nov 23.

FMUC - Faculty of Medicine, University of Coimbra, Coimbra, Portugal; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952895PMC
April 2018

Developing robust arsenic awareness prediction models using machine learning algorithms.

J Environ Manage 2018 Apr 4;211:125-137. Epub 2018 Feb 4.

School of Systems, Management and Leadership, Faculty of Engineering and IT, University of Technology Sydney, Building 11, Level 06, 81 Broadway, Ultimo, NSW 2007, Australia; Department of Energy and Mineral Resources Engineering, Choongmu-gwan, Sejong University, 209 Neungdong-ro Gwangjin-gu, Seoul 05006, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jenvman.2018.01.044DOI Listing
April 2018

Scientific and Ethical Issues in Mitochondrial Donation.

New Bioeth 2018 Apr;24(1):57-73

a Wellcome Centre for Mitochondrial Research, Institute of Neuroscience , Newcastle University , Newcastle upon Tyne , UK.

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http://dx.doi.org/10.1080/20502877.2018.1440725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890307PMC
April 2018

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

Ann Clin Transl Neurol 2018 03 7;5(3):333-345. Epub 2018 Feb 7.

Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne UK.

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http://dx.doi.org/10.1002/acn3.532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846390PMC
March 2018

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

Eur J Paediatr Neurol 2018 Jan 16;22(1):46-55. Epub 2017 Oct 16.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.10.003DOI Listing
January 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 2018

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.

Neurol Genet 2017 Dec 15;3(6):e202. Epub 2017 Dec 15.

Wellcome Centre for Mitochondrial Research (E.W.S., R.L.J., S.A.H., E.L.B., A.M.S., D.M.T., G.S.G., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, United Kingdom; Department of Molecular and Human Genetics (E.W.S.), Baylor College of Medicine, Houston, TX; NHS Highly Specialised Mitochondrial Diagnostic Laboratory (R.L.J., S.A.H., E.L.B., R.W.T.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Wellcome Centre for Mitochondrial Research (A.P.), Institute of Genetic Medicine, Newcastle University, United Kingdom; and Department of Clinical Neurosciences (P.F.C.), School of Clinical Medicine, and MRC Mitochondrial Biology Unit (P.F.C.), University of Cambridge, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732003PMC
December 2017

Decreased male reproductive success in association with mitochondrial dysfunction.

Eur J Hum Genet 2017 10 16;25(10):1162-1164. Epub 2017 Aug 16.

Wellcome Trust Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/ejhg.2017.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600812PMC
October 2017

Novel variants associated with late-onset de novo status epilepticus and progressive ataxia.

Neurol Genet 2017 Oct 9;3(5):e181. Epub 2017 Aug 9.

Wellcome Centre for Mitochondrial Research (Y.S.N., H.P., D.M.T., R.W.T.), Institute of Neuroscience, Newcastle University, Newcastle upon Tyne; and Sheffield Teaching Hospitals NHS Trust and University of Sheffield (N.H., M.H.), Royal Hallamshire Hospital, Sheffield, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550380PMC
October 2017

De novo variant is associated with decreased mitochondrial respiratory chain activities.

Neurol Genet 2017 Oct 22;3(5):e187. Epub 2017 Sep 22.

Wellcome Centre for Mitochondrial Research (E.W.S., C.L.A., L.H., G.F., R.M., R.W.T.), Institute of Neuroscience, Newcastle University, United Kingdom; Department of Molecular and Human Genetics (E.W.S.), Baylor College of Medicine, Houston, TX; Wellcome Centre for Mitochondrial Research (A.P.), Institute of Genetic Medicine, Newcastle University; Armistead Child Development Centre (K.N.), Kings Cross Hospital, Dundee, Scotland; Department of Clinical Neurosciences (P.F.C.), School of Clinical Medicine, University of Cambridge; and MRC Mitochondrial Biology Unit (P.F.C.), University of Cambridge, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5610040PMC
October 2017

Recent Advances in Mitochondrial Disease.

Annu Rev Genomics Hum Genet 2017 08 17;18:257-275. Epub 2017 Apr 17.

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom; email:

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http://dx.doi.org/10.1146/annurev-genom-091416-035426DOI Listing
August 2017

Camptocormia and shuffling gait due to a novel mutation: Diagnostic pitfalls.

Neurol Genet 2017 Jun 5;3(3):e147. Epub 2017 Apr 5.

Department of Neurology (J.R., C.K.), Department of Epileptology (W.S.K.), Life and Brain Centre (W.S.K.), and Centre for Rare Diseases Bonn (ZSEB) (C.K.), University Hospital of Bonn, Germany; Department of Neurology (D.L.), University of Halle/S., Germany; and Wellcome Trust Centre for Mitochondrial Research (D.L., S.A.H., G.F., C.V.Y.K., R.L.J., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384303PMC
June 2017

The genetics and pathology of mitochondrial disease.

J Pathol 2017 Jan 2;241(2):236-250. Epub 2016 Nov 2.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1002/path.4809DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5215404PMC
January 2017

Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions.

Neurol Genet 2016 Dec 19;2(6):e113. Epub 2016 Oct 19.

Form the Department of Neurology (D.L., M.E.K., C.C., S.Z.), Institute of Medical Epidemiology, Biometrics and Informatics (A.W.), University of Halle-Wittenberg, Halle/Saale, Germany; Wellcome Trust Centre for Mitochondrial Research (C.L.A., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, UK; and Department of Neurology (M.D.), Technical University Munich, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089902PMC
December 2016

Dysferlin mutations and mitochondrial dysfunction.

Neuromuscul Disord 2016 11 29;26(11):782-788. Epub 2016 Aug 29.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5091283PMC
November 2016

The swinging pendulum of biomarkers in mitochondrial disease: The role of FGF21.

Neurology 2016 11 28;87(22):2286-2287. Epub 2016 Oct 28.

From the Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine (H.E.S., R.H.) and Institute of Neuroscience (R.W.T.), Newcastle University, Newcastle upon Tyne; and John Walton Muscular Dystrophy Research Centre (H.E.S., R.H.), Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1212/WNL.0000000000003383DOI Listing
November 2016

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.

Epilepsia 2016 Oct 24;57(10):1531-1545. Epub 2016 Aug 24.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1111/epi.13508DOI Listing
October 2016

Mitochondrial dysfunction in myofibrillar myopathy.

Neuromuscul Disord 2016 10 10;26(10):691-701. Epub 2016 Aug 10.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066370PMC
October 2016

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

Neuromuscul Disord 2016 10 17;26(10):702-705. Epub 2016 Aug 17.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066368PMC
October 2016

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

Neurol Genet 2016 Aug 23;2(4):e82. Epub 2016 Jun 23.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience (S.A.H., E.L.B., A.I.P., M.C.R., S.A., G.F., Y.S.N., D.M.T., G.S.G., R.W.T.), The Medical School, Institute of Genetic Medicine (R.H.), Newcastle University; Nuffield Department of Obstetrics and Gynaecology (J.P.), University of Oxford; Department of Neurology (M.R.R.), King's College Hospital NHS Foundation Trust, London; Departments of Neurology and Neuropathology (O.O., N.B.), Cork University Hospital, Ireland; and The Walton Centre for Neurology and Neurosurgery (C.F.D.), Liverpool, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4972142PMC
August 2016

Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.

JIMD Rep 2017 30;33:61-68. Epub 2016 Aug 30.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1007/8904_2016_581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413444PMC
August 2016