Michael J Keogh

Michael J Keogh

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Michael J Keogh

Michael J Keogh

Publications by authors named "Michael J Keogh"

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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

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

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

Mitochondrial DNA mutations in neurodegeneration.

Biochim Biophys Acta 2015 Nov 23;1847(11):1401-11. Epub 2015 May 23.

Institute of Genetic Medicine, Centre for Life, Newcastle University, NE1 3BZ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2015.05.015DOI Listing
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

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

A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism.

Neurogenetics 2015 Jan 25;16(1):65-7. Epub 2014 Nov 25.

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/10.1007/s10048-014-0431-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6600868PMC
January 2015

LRRK2 exonic variants and risk of multiple system atrophy.

Neurology 2014 Dec 5;83(24):2256-61. Epub 2014 Nov 5.

From the Section of Biostatistics (M.G.H., N.N.D.) and Departments of Neuroscience (A.I.S.-O., S.R., K.O., M.E.M., D.W.D., O.A.R.) and Neurology (S.F., W.P.C., R.J.U., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Molecular Neuroscience (L.S., A.S., H.H.), Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Department of Medical Genetics (M.J.F.), University of British Columbia, Vancouver, Canada; Laboratory of Neurogenetics (A.B.S.), National Institute on Aging, Bethesda, MD; Institute of Genetic Medicine (P.F.C., M.J.K.), Newcastle University, Central Parkway, Newcastle upon Tyne; Neuropathology Unit (S.M.G.), Department of Medicine, Imperial College London; Queen Square Brain Bank for Neurological Disorders (J.L.H., K.A.), Department of Molecular Neuroscience, UCL Institute of Neurology, University College London; Clinical and Cognitive Sciences Research Group (D.M.A.M.), Institute of Brain, Behavior and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford; and MRC London Neurodegenerative Diseases Brain Bank (S.A.-S., C.T.), King's College London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000001078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277668PMC
December 2014

Neuroferritinopathy.

Int Rev Neurobiol 2013 ;110:91-123

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

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http://dx.doi.org/10.1016/B978-0-12-410502-7.00006-5DOI Listing
July 2014

Early neuropsychiatry features in neuroferritinopathy.

Mov Disord 2013 Aug 23;28(9):1310-3. Epub 2013 Feb 23.

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http://dx.doi.org/10.1002/mds.25371DOI Listing
August 2013

How to spot mitochondrial disease in adults.

Clin Med (Lond) 2013 Feb;13(1):87-92

James Cook Hospital, Middlesbrough.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873718PMC
http://dx.doi.org/10.7861/clinmedicine.13-1-87DOI Listing
February 2013

Radiological presentation of a giant bulla as a tension pneumothorax.

J Emerg Med 2012 Sep 16;43(3):e211-3. Epub 2011 Sep 16.

Department of Cardiothoracic Surgery, Oxford Heart Centre, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1016/j.jemermed.2011.06.005DOI Listing
September 2012

Subclinical exposure to low-dose endotoxin impairs EEG maturation in preterm fetal sheep.

Am J Physiol Regul Integr Comp Physiol 2012 Aug 13;303(3):R270-8. Epub 2012 Jun 13.

Department of Physiology, University of Auckland, New Zealand.

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http://dx.doi.org/10.1152/ajpregu.00216.2012DOI Listing
August 2012

Current concepts and controversies in neurodegeneration with brain iron accumulation.

Semin Pediatr Neurol 2012 Jun;19(2):51-6

Mitochondrial Research Group, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle Upon Tyne, UK.

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http://dx.doi.org/10.1016/j.spen.2012.03.004DOI Listing
June 2012

Limited predictive value of early changes in EEG spectral power for neural injury after asphyxia in preterm fetal sheep.

Pediatr Res 2012 Apr 15;71(4 Pt 1):345-53. Epub 2012 Feb 15.

Fetal Physiology and Neuroscience Group, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1038/pr.2011.80DOI Listing
April 2012

Neuroferritinopathy: a new inborn error of iron metabolism.

Neurogenetics 2012 Feb 26;13(1):93-6. Epub 2012 Jan 26.

Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1007/s10048-011-0310-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038507PMC
February 2012

Abnormal saline: redressing the balance.

Br J Hosp Med (Lond) 2011 Jan;72(1):M2-3

Department of General Surgery, Royal Berkshire Hospital, Reading.

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January 2011

Specific interaction of hepatitis C virus glycoproteins with mannan binding lectin inhibits virus entry.

Protein Cell 2010 Jul 29;1(7):664-74. Epub 2010 Jul 29.

Institute of Infection, Immunity and Inflammation, School of Molecular Medical Sciences, The University of Nottingham, Queen's Medical Centre, Nottingham, NG7 2UH, UK.

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http://dx.doi.org/10.1007/s13238-010-0088-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4875281PMC
July 2010

Statin-associated weakness in myasthenia gravis: a case report.

J Med Case Rep 2010 Feb 20;4:61. Epub 2010 Feb 20.

Department of Stroke Medicine, United Lincolnshire Hospitals Trust, Lincoln County Hospital, Lincoln, LN2 5QY, UK.

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http://dx.doi.org/10.1186/1752-1947-4-61DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2834677PMC
February 2010

A review of femoroacetabular impingement in athletes.

Sports Med 2008 ;38(10):863-78

Faculty of Medicine and Health Sciences, University of Nottingham Medical School, Queens Medical Centre, Nottingham, UK.

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http://dx.doi.org/10.2165/00007256-200838100-00005DOI Listing
February 2009