Angela Pyle

Angela Pyle

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Angela Pyle

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Circulating cell-free mitochondrial DNA levels in Parkinson's disease are influenced by treatment.

Mol Neurodegener 2020 Feb 18;15(1):10. Epub 2020 Feb 18.

Wellcome Centre for Mitochondrial Research, Biosciences Institute, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1186/s13024-020-00362-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029508PMC
February 2020

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

J Inherit Metab Dis 2020 Jan 10;43(1):36-50. Epub 2019 May 10.

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041634PMC
January 2020

Cell-free mitochondrial DNA in progressive multiple sclerosis.

Mitochondrion 2019 05 8;46:307-312. Epub 2018 Aug 8.

Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; The Wellcome Centre for Mitochondrial Research, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2018.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509276PMC
May 2019

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

Mitochondrial DNA changes in pedunculopontine cholinergic neurons in Parkinson disease.

Ann Neurol 2017 Dec 4;82(6):1016-1021. Epub 2017 Dec 4.

Division of Brain Sciences, Faculty of Medicine, Hammersmith Hospital Campus, Imperial College London, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.25099DOI Listing
December 2017

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

Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ.

J Allergy Clin Immunol 2017 11 17;140(5):1461-1464.e8. Epub 2017 Jun 17.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom; Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.04.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5667580PMC
November 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

Genetic heterogeneity of motor neuropathies.

Neurology 2017 Mar 1;88(13):1226-1234. Epub 2017 Mar 1.

From the MRC Centre for Neuromuscular Diseases and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., H.G., T.E., J.D., A.B., V.B., H.S., E.F., A.P., H.L., P.F.C., R.H.), and Institute of Neuroscience (R.G.W., J.M.), Newcastle University, Newcastle upon Tyne; Bristol Genetics Laboratory (T.A., M.G., N.F.), Pathology Sciences, North Bristol NHS Trust, Southmead Hospital; Medical Genetic Center (S.K.), Munich, Germany; Department of Paediatric Neurology (V.R.), Royal Victoria Infirmary, Newcastle upon Tyne Foundation Hospitals NHS Trust; Nuffield Department of Clinical Neurosciences (E.F.), University of Oxford; and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.

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http://dx.doi.org/10.1212/WNL.0000000000003772DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373778PMC
March 2017

Reduced mitochondrial DNA is not a biomarker of depression in Parkinson's disease.

Mov Disord 2016 12 18;31(12):1923-1924. Epub 2016 Oct 18.

Mitochondrial Research Group, University of Newcastle Upon Tyne, Newcastle Upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/mds.26825DOI Listing
December 2016

A Woman With Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems.

JAMA Neurol 2016 12;73(12):1494-1495

Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom5Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.1001/jamaneurol.2016.3613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551223PMC
December 2016

Phenotypic convergence of Menkes and Wilson disease.

Neurol Genet 2016 Dec 17;2(6):e119. Epub 2016 Nov 17.

John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5114694PMC
December 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

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.

Neurol Genet 2016 Apr 3;2(2):e59. Epub 2016 Mar 3.

Wellcome Trust Centre for Mitochondrial Research (D.L.-S., H.G., J.D., A.P., R.W.T., P.Y.-W.-M., R.H., P.F.C.), Institute of Genetic Medicine (D.L.-S., H.G., J.D., A.P., P.Y.-W.-M., R.H.), and Institute of Neuroscience (R.W.T.), Newcastle University, Newcastle upon Tyne, United Kingdom; Howard Hughes Medical Institute (K.J.K., D.T., V.K.M.), Department of Molecular Biology, Massachusetts General Hospital, Boston, MA; Department of Paediatric Neurology (A.-M.C., K.P.), The General Infirmary, Leeds, United Kingdom; Department of Child Neurology (V.R.), The Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom; Department of Systems Biology (V.K.M.), Harvard Medical School, Boston, MA; Broad Institute (V.K.M.), Cambridge, MA; Department of Clinical Neurosciences (P.F.C.), University of Cambridge; and MRC Mitochondrial Biology Unit (P.F.C.), Cambridge Biomedical Campus, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830195PMC
April 2016

Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease.

Neurobiol Aging 2016 Feb 5;38:216.e7-216.e10. Epub 2015 Nov 5.

Mitochondrial Research Group, Institute of Genetic Medicine, University of Newcastle Upon Tyne, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.10.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4759605PMC
February 2016

Somatic mtDNA variation is an important component of Parkinson's disease.

Neurobiol Aging 2016 Feb 6;38:217.e1-217.e6. Epub 2015 Nov 6.

Mitochondrial Research Group, Institute of Genetic Medicine, University of Newcastle Upon Tyne, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.10.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4759607PMC
February 2016

Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's disease.

Ann Neurol 2015 Dec 13;78(6):1000-4. Epub 2015 Nov 13.

Mitochondrial Research Group, University of Newcastle Upon Tyne, Newcastle Upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ana.24515DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551217PMC
December 2015

The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Brain 2015 Nov 10;138(Pt 11):e391. Epub 2015 Jun 10.

1 The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK 2 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK

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http://dx.doi.org/10.1093/brain/awv159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4620510PMC
November 2015

SCP2 mutations and neurodegeneration with brain iron accumulation.

Neurology 2015 Nov 23;85(21):1909-11. Epub 2015 Oct 23.

From the Institute of Genetic Medicine (R.H., D.L.-S., K.D., J.D., M.K., A.P., P.F.C.), Newcastle University, Newcastle upon Tyne; and The Walton Centre NHS Trust (N.F.), Liverpool, UK.

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http://dx.doi.org/10.1212/WNL.0000000000002157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4662697PMC
November 2015

Reply: Evaluation of exome sequencing variation in undiagnosed ataxias.

Brain 2015 Oct 4;138(Pt 10):e384. Epub 2015 Apr 4.

Institute of Genetic Medicine, Newcastle University, NE1 3BZ, UK

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http://dx.doi.org/10.1093/brain/awv088DOI Listing
October 2015

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering.

J Neurol 2015 Jul 10;262(7):1673-7. Epub 2015 May 10.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK,

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http://link.springer.com/10.1007/s00415-015-7755-y
Publisher Site
http://dx.doi.org/10.1007/s00415-015-7755-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503877PMC
July 2015

Phenotypic variability of TRPV4 related neuropathies.

Neuromuscul Disord 2015 Jun 18;25(6):516-21. Epub 2015 Mar 18.

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454778PMC
June 2015

Respiratory chain deficiency in nonmitochondrial disease.

Neurol Genet 2015 Jun 27;1(1):e6. Epub 2015 Apr 27.

Wellcome Trust Centre for Mitochondrial Research (A.P., H.J.N., H.G., K.D., M.S.-K., P.F.C., R.H.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Medical Genetics Center (A.A., L.F., B.C., S.K., E.H.-F.), Munich, Germany; Division of Neuropediatrics and Muscle Disorders (J.K.), University Medical Center, Freiburg, Germany; Department of Paediatrics (I.B., M.C.), University Hospital Center Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia; Department of Paediatrics (M.K.), Hospital Baden-Baden, Germany; and Department of Molecular Genetics and Diagnostics (V.K.), NIEH, Budapest, Hungary.

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http://dx.doi.org/10.1212/NXG.0000000000000006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821083PMC
June 2015

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans.

PLoS Genet 2015 May 14;11(5):e1005040. Epub 2015 May 14.

Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle-upon-Tyne, United Kingdom; Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1005040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431825PMC
May 2015

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.

Neurology 2015 Apr 1;84(17):1818-20. Epub 2015 Apr 1.

From the Wellcome Centre for Mitochondrial Research (M.J.K., A.P., D.D., H.G., K.D., G.E., R.H., P.F.C.), Institute of Genetic Medicine, Centre for Life, Newcastle University; and Royal Victoria Infirmary (M.J.K., J.M., R.H., P.F.C.), Newcastle Upon Tyne, UK.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000151
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424129PMC
April 2015

Increased yield of exome sequencing by off-target mitochondrial DNA analysis.

Ann Neurol 2015 Mar 14;77(3):553. Epub 2015 Feb 14.

Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ana.24360DOI Listing
March 2015

SPG7 mutations are a common cause of undiagnosed ataxia.

Neurology 2015 Mar 13;84(11):1174-6. Epub 2015 Feb 13.

From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK.

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http://dx.doi.org/10.1212/WNL.0000000000001369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371411PMC
March 2015

Exome sequencing in undiagnosed inherited and sporadic ataxias.

Brain 2015 Feb 12;138(Pt 2):276-83. Epub 2014 Dec 12.

1 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK

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http://dx.doi.org/10.1093/brain/awu348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306819PMC
February 2015

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

JAMA Neurol 2015 Jan;72(1):106-11

Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, England2Institute for Ageing and Health, National Institute for Health Research Biomedical Research Centre for Ageing, Newcastle University, Newcastle upon Tyne, Englan.

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http://dx.doi.org/10.1001/jamaneurol.2014.1753DOI Listing
January 2015

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.

Genet Med 2014 Dec 5;16(12):962-71. Epub 2014 Jun 5.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK.

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http://dx.doi.org/10.1038/gim.2014.66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272251PMC
December 2014

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes.

Br J Ophthalmol 2014 May 23;98(5):711-3. Epub 2014 Jan 23.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, , Newcastle upon Tyne, Tyne and Wear, UK.

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http://dx.doi.org/10.1136/bjophthalmol-2013-304534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995215PMC
May 2014

Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old.

Neurobiol Aging 2013 Dec 30;34(12):2889.e1-4. Epub 2013 Apr 30.

Institute for Ageing and Health, Newcastle University, Campus for Ageing and Vitality, Newcastle upon Tyne NE4 5PL, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906612PMC
December 2013

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.

J Neurogenet 2013 Dec 4;27(4):176-82. Epub 2013 Nov 4.

Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine , Newcastle upon Tyne , UK.

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http://dx.doi.org/10.3109/01677063.2013.831094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038496PMC
December 2013

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.

Arch Neurol 2012 Oct;69(10):1351-4

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, England.

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http://dx.doi.org/10.1001/archneurol.2012.1472DOI Listing
October 2012

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

J Neurol Neurosurg Psychiatry 2012 Feb 29;83(2):174-8. Epub 2011 Oct 29.

Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1136/jnnp-2011-301258DOI Listing
February 2012

POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.

Biochim Biophys Acta 2011 Mar 5;1812(3):321-5. Epub 2010 Dec 5.

Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1016/j.bbadis.2010.11.012DOI Listing
March 2011

Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis.

Intensive Care Med 2010 Jun 12;36(6):956-62. Epub 2010 Mar 12.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle, NE2 4HH, UK.

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http://dx.doi.org/10.1007/s00134-010-1823-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4034433PMC
June 2010

Mitochondrial DNA and survival after sepsis: a prospective study.

Lancet 2005 Dec;366(9503):2118-21

University Department of Surgical & Reproductive Sciences, University of Newcastle upon Tyne, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/S0140-6736(05)67890-7DOI Listing
December 2005

Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.

Ann Neurol 2005 Apr;57(4):564-7

Mitochondrial Research Group, The University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ana.20417DOI Listing
April 2005