Patrick F Chinnery

Patrick F Chinnery

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Patrick F Chinnery

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De-fusing mitochondria defuses the mtDNA time-bomb.

Cell Res 2019 Oct;29(10):781-782

MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 0XY, UK.

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http://dx.doi.org/10.1038/s41422-019-0206-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796934PMC
October 2019

Mitochondrial heteroplasmy beyond the oocyte bottleneck.

Semin Cell Dev Biol 2019 Oct 11. Epub 2019 Oct 11.

Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 0XY, UK.

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http://dx.doi.org/10.1016/j.semcdb.2019.10.001DOI Listing
October 2019

Mitochondria in neuroinflammation - Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS.

Neurosci Lett 2019 Sep 28;710:132932. Epub 2017 Jun 28.

Department of Clinical Neuroscience & MRC Mitochondrial Biology Unit, University of Cambridge, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neulet.2017.06.051DOI Listing
September 2019

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.

Authors:
Sven J van der Lee Olivia J Conway Iris Jansen Minerva M Carrasquillo Luca Kleineidam Erik van den Akker Isabel Hernández Kristel R van Eijk Najada Stringa Jason A Chen Anna Zettergren Till F M Andlauer Monica Diez-Fairen Javier Simon-Sanchez Alberto Lleó Henrik Zetterberg Marianne Nygaard Cornelis Blauwendraat Jeanne E Savage Jonas Mengel-From Sonia Moreno-Grau Michael Wagner Juan Fortea Michael J Keogh Kaj Blennow Ingmar Skoog Manuel A Friese Olga Pletnikova Miren Zulaica Carmen Lage Itziar de Rojas Steffi Riedel-Heller Ignacio Illán-Gala Wei Wei Bernard Jeune Adelina Orellana Florian Then Bergh Xue Wang Marc Hulsman Nina Beker Niccolo Tesi Christopher M Morris Begoña Indakoetxea Lyduine E Collij Martin Scherer Estrella Morenas-Rodríguez James W Ironside Bart N M van Berckel Daniel Alcolea Heinz Wiendl Samantha L Strickland Pau Pastor Eloy Rodríguez Rodríguez Bradley F Boeve Ronald C Petersen Tanis J Ferman Jay A van Gerpen Marcel J T Reinders Ryan J Uitti Lluís Tárraga Wolfgang Maier Oriol Dols-Icardo Amit Kawalia Maria Carolina Dalmasso Mercè Boada Uwe K Zettl Natasja M van Schoor Marian Beekman Mariet Allen Eliezer Masliah Adolfo López de Munain Alexander Pantelyat Zbigniew K Wszolek Owen A Ross Dennis W Dickson Neill R Graff-Radford David Knopman Rosa Rademakers Afina W Lemstra Yolande A L Pijnenburg Philip Scheltens Thomas Gasser Patrick F Chinnery Bernhard Hemmer Martijn A Huisman Juan Troncoso Fermin Moreno Ellen A Nohr Thorkild I A Sørensen Peter Heutink Pascual Sánchez-Juan Danielle Posthuma Jordi Clarimón Kaare Christensen Nilüfer Ertekin-Taner Sonja W Scholz Alfredo Ramirez Agustín Ruiz Eline Slagboom Wiesje M van der Flier Henne Holstege

Acta Neuropathol 2019 Aug 27;138(2):237-250. Epub 2019 May 27.

Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02026-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660501PMC
August 2019

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.

Mitochondrion 2019 05 9;46:302-306. Epub 2018 Aug 9.

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.2018.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509278PMC
May 2019

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Alzheimers Dement 2018 12 13;14(12):1632-1639. Epub 2018 Aug 13.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jalz.2018.06.3056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6544509PMC
December 2018

mtDNA Population Variants and Neurodegenerative Diseases.

Front Neurosci 2018 12;12:682. Epub 2018 Oct 12.

Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.

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https://www.frontiersin.org/article/10.3389/fnins.2018.00682
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http://dx.doi.org/10.3389/fnins.2018.00682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194173PMC
October 2018

Oxygen in mitochondrial disease: can there be too much of a good thing?

J Inherit Metab Dis 2018 09 8;41(5):761-763. Epub 2018 Jun 8.

MRC Mitochondrial Biology Unit & Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.

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http://dx.doi.org/10.1007/s10545-018-0210-3DOI Listing
September 2018

First-line genomic diagnosis of mitochondrial disorders.

Nat Rev Genet 2018 07;19(7):399-400

NIHR Translational BioResource in Common and Rare Diseases, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1038/s41576-018-0022-1DOI Listing
July 2018

The mitochondrial DNA genetic bottleneck: inheritance and beyond.

Essays Biochem 2018 07 20;62(3):225-234. Epub 2018 Jul 20.

Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0XY, U.K.

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http://dx.doi.org/10.1042/EBC20170096DOI Listing
July 2018

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo mutation.

Neurology 2018 05 2;90(21):e1842-e1848. Epub 2018 May 2.

From the Wellcome Centre for Mitochondrial Research (G.S.G.), Institute of Genetic Medicine (B.B., M.J., J.S.M., J.D., H.G., H.L., P.F.C., A.R., R.H.), and Institute of Neuroscience (M.R.B., R.G.W., G.S.G.), Newcastle University, Newcastle upon Tyne, UK; Leibniz-Institute für Analytische Wissenschaften-ISAS-e.V. (V.P., A.R.), Dortmund, Germany; Departments of Neurology (M.R.B., J.A.L.M., G.S.G.) and Clinical Neurophysiology (M.R.B., R.G.W., R.H.), Royal Victoria Infirmary, Newcastle upon Tyne; Department of Cellular and Molecular Physiology (J.O., L.E.S.), Institute of Translational Medicine, University of Liverpool; Department of Clinical Neurosciences (P.F.C.), University of Cambridge, Cambridge Biomedical Campus, UK; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; and Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000005566DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5962916PMC
May 2018

Mitochondria and Hypoxia: Metabolic Crosstalk in Cell-Fate Decisions.

Trends Endocrinol Metab 2018 04 28;29(4):249-259. Epub 2018 Feb 28.

MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK; Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, Cambridge CB2 0QQ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.tem.2018.02.002DOI Listing
April 2018

Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line.

Dev Growth Differ 2018 Jan 24;60(1):21-32. Epub 2018 Jan 24.

MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1111/dgd.12420DOI Listing
January 2018

Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.

PLoS Genet 2017 12 18;13(12):e1007126. Epub 2017 Dec 18.

MRC-Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1007126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757940PMC
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

Monitoring clinical progression with mitochondrial disease biomarkers.

Brain 2017 Oct;140(10):2530-2540

Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.

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http://dx.doi.org/10.1093/brain/awx168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841218PMC
October 2017

mutations and central demyelination: Evidence from electrophysiologic phenotyping in female manifesting carriers.

Neurol Clin Pract 2017 Oct;7(5):451-454

Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Centre for Life (MJK, HES, RH, PFC), and Institute of Neuroscience (SRJ, MRB), Newcastle University; Departments of Neurology (MJK, SRJ, HES, RH, PFC, MRB) and Neurophysiology (SRJ, MRB), Royal Victoria Infirmary, Newcastle Upon Tyne; and Department of Clinical Neurosciences (MJK, PFC), University Neurology Unit, Cambridge Biomedical Campus, UK.

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http://dx.doi.org/10.1212/CPJ.0000000000000346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874467PMC
October 2017

Amyloid-β accumulation in the CNS in human growth hormone recipients in the UK.

Acta Neuropathol 2017 08 27;134(2):221-240. Epub 2017 Mar 27.

National CJD Research & Surveillance Unit, Centre for Clinical Brain Sciences, Deanery of Clinical Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.

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http://dx.doi.org/10.1007/s00401-017-1703-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508038PMC
August 2017

Response to Simon et al.

Acta Neuropathol Commun 2017 04 29;5(1):34. Epub 2017 Apr 29.

Department of Clinical Neurosciences and MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1186/s40478-017-0434-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5410018PMC
April 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

The Effect of Neurological Genomics and Personalized Mitochondrial Medicine.

JAMA Neurol 2017 01;74(1):11-13

Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom3Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom.

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http://dx.doi.org/10.1001/jamaneurol.2016.4506DOI Listing
January 2017

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

Mitochondrial Matchmaking.

N Engl J Med 2016 Nov;375(19):1894-1896

From the MRC Mitochondrial Biology Unit (P.F.C., M.Z.) and the Department of Clinical Neurosciences (P.F.C.) - both at the Cambridge Biomedical Campus, University of Cambridge, Cambridge, United Kingdom.

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http://www.nejm.org/doi/10.1056/NEJMcibr1608715
Publisher Site
http://dx.doi.org/10.1056/NEJMcibr1608715DOI Listing
November 2016

Mitochondrial diseases.

Nat Rev Dis Primers 2016 10 20;2:16080. Epub 2016 Oct 20.

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

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http://dx.doi.org/10.1038/nrdp.2016.80DOI Listing
October 2016

Herpes simplex encephalitis is linked with selective mitochondrial damage; a post-mortem and in vitro study.

Acta Neuropathol 2016 09 25;132(3):433-51. Epub 2016 Jul 25.

Brain Infections Group, Department of Clinical Infection, Microbiology and Immunology, Institute of Infection and Global Health, University of Liverpool, Liverpool, L69 7BE, UK.

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http://dx.doi.org/10.1007/s00401-016-1597-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992034PMC
September 2016

Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.

Neurology 2016 Sep 10;87(10):1031-5. Epub 2016 Aug 10.

From the John Walton Muscular Dystrophy Research Centre (H.E.S., E.H., R.B., J.M., V.S.), Newcastle University; Department of Cardiology (A.B., J.P.B.), Freeman Hospital, NUTH NHS Foundation Trust; Medical Research Council Mitochondrial Biology Unit (P.F.C.); and Department of Clinical Neurosciences (P.F.C.), School of Clinical Medicine, University of Cambridge, UK.

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http://dx.doi.org/10.1212/WNL.0000000000003064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027812PMC
September 2016

A multiple sclerosis-like disorder in patients with OPA1 mutations.

Ann Clin Transl Neurol 2016 09 19;3(9):723-9. Epub 2016 Jul 19.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine Newcastle University Newcastle upon Tyne NE1 3BZ United Kingdom; MRC-Mitochondrial Biology Unit Cambridge Biomedical Campus Cambridge CB2 0XY United Kingdom; Department of Clinical Neurosciences Cambridge Biomedical Campus University of Cambridge Cambridge CB2 0QQ United Kingdom.

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http://dx.doi.org/10.1002/acn3.323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018584PMC
September 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

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.

Ophthalmology 2016 07 10;123(7):1624-6. Epub 2016 Feb 10.

Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK; Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.ophtha.2016.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558247PMC
July 2016

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Brain 2016 06 25;139(Pt 6):e33. Epub 2016 Mar 25.

Department of Clinical Neuroscience, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0QQ, UK Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK

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http://dx.doi.org/10.1093/brain/aww051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892749PMC
June 2016

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

JAMA Neurol 2016 06;73(6):668-74

Wellcome Trust Centre for Mitochondrial Research and Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, England.

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http://dx.doi.org/10.1001/jamaneurol.2016.0355DOI Listing
June 2016

Emerging therapies for mitochondrial disorders.

Brain 2016 06 3;139(Pt 6):1633-48. Epub 2016 May 3.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK MRC-Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, CB2 0XY, UK Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, Cambridge, CB2 0QQ, UK

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http://dx.doi.org/10.1093/brain/aww081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892756PMC
June 2016

The frequency of the m.1555A>G () variant in UK patients with suspected mitochondrial deafness.

Hearing Balance Commun 2016;14(2):101-102. Epub 2016 May 20.

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

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http://dx.doi.org/10.3109/21695717.2016.1151124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886845PMC
May 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

Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.

Brain 2016 Mar 10;139(Pt 3):e18. Epub 2015 Dec 10.

1 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK 6 Medical Research Council Mitochondrial Biology Unit, Cambridge, UK 7 Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, UK

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http://dx.doi.org/10.1093/brain/awv340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839597PMC
March 2016

Mitochondrial disease: mimics and chameleons.

Pract Neurol 2015 Dec 22;15(6):424-35. Epub 2015 Jul 22.

Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

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http://pn.bmj.com/content/15/6/424.full.pdf
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http://pn.bmj.com/lookup/doi/10.1136/practneurol-2015-001191
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http://dx.doi.org/10.1136/practneurol-2015-001191DOI Listing
December 2015

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

Mitochondrial disease in adults: what's old and what's new?

EMBO Mol Med 2015 Dec;7(12):1503-12

Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK Medical Research Council - Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK

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http://dx.doi.org/10.15252/emmm.201505079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4693502PMC
December 2015

Mitochondrial pathology in progressive cerebellar ataxia.

Cerebellum Ataxias 2015 4;2:16. Epub 2015 Dec 4.

Academic Department of Neurosciences, Royal Hallamshire Hospital, Glossop Road, Sheffield, S10 2JF UK.

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http://dx.doi.org/10.1186/s40673-015-0035-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4670505PMC
December 2015

Mitochondrial dysfunction in aging: Much progress but many unresolved questions.

Biochim Biophys Acta 2015 Nov 4;1847(11):1347-53. Epub 2015 Jun 4.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, UK. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2015.05.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4580208PMC
November 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

Inherited mtDNA variations are not strong risk factors in human prion disease.

Neurobiol Aging 2015 Oct 10;36(10):2908.e1-3. Epub 2015 Jul 10.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542657PMC
October 2015

Prevalence of neurogenetic disorders in the North of England.

Neurology 2015 Oct 4;85(14):1195-201. Epub 2015 Sep 4.

From the Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1212/WNL.0000000000001995DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607600PMC
October 2015

The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease.

Nat Rev Genet 2015 09;16(9):530-42

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

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http://dx.doi.org/10.1038/nrg3966DOI Listing
September 2015

Mitochondrial Causes of Epilepsy: Evaluation, Diagnosis, and Treatment.

Semin Neurol 2015 Jun 10;35(3):300-9. Epub 2015 Jun 10.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1055/s-0035-1552624DOI Listing
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