Claire Troakes

Claire Troakes

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Claire Troakes

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RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.

Brain 2019 Oct 11. Epub 2019 Oct 11.

United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK.

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http://dx.doi.org/10.1093/brain/awz313DOI Listing
October 2019

Transcriptomic analysis of probable asymptomatic and symptomatic alzheimer brains.

Brain Behav Immun 2019 Aug 4;80:644-656. Epub 2019 May 4.

Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; NIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust (SLaM) & Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College London, UK; Health Data Research UK London, University College London, 222 Euston Road, London, UK; Institute of Health Informatics, University College London, 222 Euston Road, London, UK; The National Institute for Health Research University College London Hospitals Biomedical Research Centre, University College London, 222 Euston Road, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.bbi.2019.05.009DOI Listing
August 2019

Heritability and genetic variance of dementia with Lewy bodies.

Neurobiol Dis 2019 07 3;127:492-501. Epub 2019 Apr 3.

Department of Neurodegenerative Diseases, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2019.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588425PMC
July 2019

The Psychiatric Risk Gene NT5C2 Regulates Adenosine Monophosphate-Activated Protein Kinase Signaling and Protein Translation in Human Neural Progenitor Cells.

Biol Psychiatry 2019 Jul 30;86(2):120-130. Epub 2019 Mar 30.

Department of Basic & Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom; Medical Research Council Centre for Neurodevelopmental Disorders, King's College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.03.977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6614717PMC
July 2019

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Authors:
Cyril Pottier Yingxue Ren Ralph B Perkerson Matt Baker Gregory D Jenkins Marka van Blitterswijk Mariely DeJesus-Hernandez Jeroen G J van Rooij Melissa E Murray Elizabeth Christopher Shannon K McDonnell Zachary Fogarty Anthony Batzler Shulan Tian Cristina T Vicente Billie Matchett Anna M Karydas Ging-Yuek Robin Hsiung Harro Seelaar Merel O Mol Elizabeth C Finger Caroline Graff Linn Öijerstedt Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Johannes Prudlo Patrizia Rizzu Javier Simon-Sanchez Dieter Edbauer Sigrun Roeber Janine Diehl-Schmid Bret M Evers Andrew King M Marsel Mesulam Sandra Weintraub Changiz Geula Kevin F Bieniek Leonard Petrucelli Geoffrey L Ahern Eric M Reiman Bryan K Woodruff Richard J Caselli Edward D Huey Martin R Farlow Jordan Grafman Simon Mead Lea T Grinberg Salvatore Spina Murray Grossman David J Irwin Edward B Lee EunRan Suh Julie Snowden David Mann Nilufer Ertekin-Taner Ryan J Uitti Zbigniew K Wszolek Keith A Josephs Joseph E Parisi David S Knopman Ronald C Petersen John R Hodges Olivier Piguet Ethan G Geier Jennifer S Yokoyama Robert A Rissman Ekaterina Rogaeva Julia Keith Lorne Zinman Maria Carmela Tartaglia Nigel J Cairns Carlos Cruchaga Bernardino Ghetti Julia Kofler Oscar L Lopez Thomas G Beach Thomas Arzberger Jochen Herms Lawrence S Honig Jean Paul Vonsattel Glenda M Halliday John B Kwok Charles L White Marla Gearing Jonathan Glass Sara Rollinson Stuart Pickering-Brown Jonathan D Rohrer John Q Trojanowski Vivianna Van Deerlin Eileen H Bigio Claire Troakes Safa Al-Sarraj Yan Asmann Bruce L Miller Neill R Graff-Radford Bradley F Boeve William W Seeley Ian R A Mackenzie John C van Swieten Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Acta Neuropathol 2019 Jun 9;137(6):879-899. Epub 2019 Feb 9.

Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.

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http://link.springer.com/10.1007/s00401-019-01962-9
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http://dx.doi.org/10.1007/s00401-019-01962-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533145PMC
June 2019

Heterogeneous Nuclear Ribonucleoprotein E2 (hnRNP E2) Is a Component of TDP-43 Aggregates Specifically in the A and C Pathological Subtypes of Frontotemporal Lobar Degeneration.

Front Neurosci 2019 4;13:551. Epub 2019 Jun 4.

London Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.

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http://dx.doi.org/10.3389/fnins.2019.00551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558155PMC
June 2019

A comprehensive screening of copy number variability in dementia with Lewy bodies.

Neurobiol Aging 2019 03 24;75:223.e1-223.e10. Epub 2018 Oct 24.

Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK; Department of Medical Sciences and Institute of Biomedicine, iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183038
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541211PMC
March 2019

Parallel profiling of DNA methylation and hydroxymethylation highlights neuropathology-associated epigenetic variation in Alzheimer's disease.

Clin Epigenetics 2019 03 21;11(1):52. Epub 2019 Mar 21.

College of Medicine and Health, University of Exeter Medical School, Exeter University, RILD Building Level 4, Royal Devon and Exeter Hospital, Barrack Rd, Exeter, EX2 5DW, UK.

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http://dx.doi.org/10.1186/s13148-019-0636-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429761PMC
March 2019

A cross-brain regions study of ANK1 DNA methylation in different neurodegenerative diseases.

Neurobiol Aging 2019 02 13;74:70-76. Epub 2018 Oct 13.

University of Exeter Medical School, University of Bristol, Exeter, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.09.024DOI Listing
February 2019

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.

Neurobiol Aging 2019 01 24;73:229.e5-229.e9. Epub 2018 Aug 24.

United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183030
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.08.015DOI Listing
January 2019

Elevated DNA methylation across a 48-kb region spanning the HOXA gene cluster is associated with Alzheimer's disease neuropathology.

Alzheimers Dement 2018 12 15;14(12):1580-1588. Epub 2018 Mar 15.

Institute of Clinical and Biomedical Science, University of Exeter Medical School, RILD Building, Royal Devon & Exeter Hospital Campus, Exeter, Devon, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jalz.2018.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438205PMC
December 2018

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Authors:
Cyril Pottier Xiaolai Zhou Ralph B Perkerson Matt Baker Gregory D Jenkins Daniel J Serie Roberta Ghidoni Luisa Benussi Giuliano Binetti Adolfo López de Munain Miren Zulaica Fermin Moreno Isabelle Le Ber Florence Pasquier Didier Hannequin Raquel Sánchez-Valle Anna Antonell Albert Lladó Tammee M Parsons NiCole A Finch Elizabeth C Finger Carol F Lippa Edward D Huey Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Robert A Rissman Jaroslaw Slawek Emilia Sitek Peter Johannsen Jørgen E Nielsen Yingxue Ren Marka van Blitterswijk Mariely DeJesus-Hernandez Elizabeth Christopher Melissa E Murray Kevin F Bieniek Bret M Evers Camilla Ferrari Sara Rollinson Anna Richardson Elio Scarpini Giorgio G Fumagalli Alessandro Padovani John Hardy Parastoo Momeni Raffaele Ferrari Francesca Frangipane Raffaele Maletta Maria Anfossi Maura Gallo Leonard Petrucelli EunRan Suh Oscar L Lopez Tsz H Wong Jeroen G J van Rooij Harro Seelaar Simon Mead Richard J Caselli Eric M Reiman Marwan Noel Sabbagh Mads Kjolby Anders Nykjaer Anna M Karydas Adam L Boxer Lea T Grinberg Jordan Grafman Salvatore Spina Adrian Oblak M-Marsel Mesulam Sandra Weintraub Changiz Geula John R Hodges Olivier Piguet William S Brooks David J Irwin John Q Trojanowski Edward B Lee Keith A Josephs Joseph E Parisi Nilüfer Ertekin-Taner David S Knopman Benedetta Nacmias Irene Piaceri Silvia Bagnoli Sandro Sorbi Marla Gearing Jonathan Glass Thomas G Beach Sandra E Black Mario Masellis Ekaterina Rogaeva Jean-Paul Vonsattel Lawrence S Honig Julia Kofler Amalia C Bruni Julie Snowden David Mann Stuart Pickering-Brown Janine Diehl-Schmid Juliane Winkelmann Daniela Galimberti Caroline Graff Linn Öijerstedt Claire Troakes Safa Al-Sarraj Carlos Cruchaga Nigel J Cairns Jonathan D Rohrer Glenda M Halliday John B Kwok John C van Swieten Charles L White Bernardino Ghetti Jill R Murell Ian R A Mackenzie Ging-Yuek R Hsiung Barbara Borroni Giacomina Rossi Fabrizio Tagliavini Zbigniew K Wszolek Ronald C Petersen Eileen H Bigio Murray Grossman Vivianna M Van Deerlin William W Seeley Bruce L Miller Neill R Graff-Radford Bradley F Boeve Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Lancet Neurol 2018 06 30;17(6):548-558. Epub 2018 Apr 30.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30126-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237181PMC
June 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.

Lancet Neurol 2018 01 16;17(1):64-74. Epub 2017 Dec 16.

UK Dementia Research Institute, University College London, London, UK; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK; Department of Medical Sciences and Institute of Biomedicine, iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(17)30400-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805394PMC
January 2018

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.

Hum Mol Genet 2017 12;26(24):4765-4777

United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London SE5 9NU, UK.

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https://academic.oup.com/hmg/article/26/24/4765/4157469
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http://dx.doi.org/10.1093/hmg/ddx350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886201PMC
December 2017

Aluminium in brain tissue in familial Alzheimer's disease.

J Trace Elem Med Biol 2017 Mar 9;40:30-36. Epub 2016 Dec 9.

The Birchall Centre, Lennard-Jones Laboratories, Keele University, Staffordshire, ST5 5BG, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jtemb.2016.12.001DOI Listing
March 2017

Clusterin expression is upregulated following acute head injury and localizes to astrocytes in old head injury.

Neuropathology 2017 Feb 1;37(1):12-24. Epub 2016 Jul 1.

Basic and Clinical Neuroscience Department, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1111/neup.12320DOI Listing
February 2017

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

Neurobiol Aging 2017 01 2;49:214.e13-214.e15. Epub 2016 Sep 2.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK; Department of Medical Sciences and Institute of Biomedicine-iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.08.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154872PMC
January 2017

Tissue-specific patterns of allelically-skewed DNA methylation.

Epigenetics 2016 19;11(1):24-35. Epub 2016 Jan 19.

a Institute of Psychiatry, Psychology and Neuroscience, King's College London , London , UK.

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http://dx.doi.org/10.1080/15592294.2015.1127479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4846124PMC
December 2016

In vitro prion-like behaviour of TDP-43 in ALS.

Neurobiol Dis 2016 Dec 30;96:236-247. Epub 2016 Aug 30.

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square House, Queen Square, London WC1N 3BG, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2016.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113659PMC
December 2016

Extended post-mortem delay times should not be viewed as a deterrent to the scientific investigation of human brain tissue: a study from the Brains for Dementia Research Network Neuropathology Study Group, UK.

Acta Neuropathol 2016 11 15;132(5):753-755. Epub 2016 Sep 15.

Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, Salford Royal Hospital, University of Manchester, Salford, Manchester, M6 8HD, UK.

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http://dx.doi.org/10.1007/s00401-016-1617-2DOI Listing
November 2016

Agonist and antagonist bind differently to 5-HT1A receptors during Alzheimer's disease: A post-mortem study with PET radiopharmaceuticals.

Neuropharmacology 2016 10 13;109:88-95. Epub 2016 May 13.

Lyon Neuroscience Research Center, Université Claude Bernard Lyon1, CNRS, INSERM, Lyon, France; Hospices Civils de Lyon, Lyon, France; CERMEP-Imaging Platform, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.neuropharm.2016.05.009DOI Listing
October 2016

Alzheimer-related decrease in CYFIP2 links amyloid production to tau hyperphosphorylation and memory loss.

Brain 2016 Oct 14;139(Pt 10):2751-2765. Epub 2016 Aug 14.

1 Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, London, SE5 9NU, UK

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http://brain.oxfordjournals.org/content/brain/139/10/2751.fu
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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
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http://dx.doi.org/10.1093/brain/aww205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035822PMC
October 2016

The Identification of Aluminum in Human Brain Tissue Using Lumogallion and Fluorescence Microscopy.

J Alzheimers Dis 2016 10;54(4):1333-1338

The Birchall Centre, Lennard-Jones Laboratories, Keele University, Staffordshire, UK.

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http://dx.doi.org/10.3233/JAD-160648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5088403PMC
October 2016

Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain.

Am J Med Genet B Neuropsychiatr Genet 2016 09 22;171(6):806-14. Epub 2016 Mar 22.

Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.b.32445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988385PMC
September 2016

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Nat Genet 2016 09 25;48(9):1037-42. Epub 2016 Jul 25.

Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560030PMC
September 2016

Upregulation of calpain activity precedes tau phosphorylation and loss of synaptic proteins in Alzheimer's disease brain.

Acta Neuropathol Commun 2016 Mar 31;4:34. Epub 2016 Mar 31.

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, Institute of Psychiatry, Psychology and Neuroscience, Rm1.25, 5 Cutcombe Road, Camberwell, London, SE5 9RX, UK.

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http://dx.doi.org/10.1186/s40478-016-0299-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818436PMC
March 2016

Variation in 5-hydroxymethylcytosine across human cortex and cerebellum.

Genome Biol 2016 Feb 16;17:27. Epub 2016 Feb 16.

University of Exeter Medical School, RILD, University of Exeter, Barrack Road, Devon, UK.

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http://dx.doi.org/10.1186/s13059-016-0871-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756397PMC
February 2016

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.

Acta Neuropathol Commun 2016 Feb 25;4:18. Epub 2016 Feb 25.

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, London, SE5 9NU, UK.

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http://www.actaneurocomms.org/content/pdf/s40478-016-0289-4.
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http://link.springer.com/content/pdf/10.1186%2Fs40478-016-02
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http://actaneurocomms.biomedcentral.com/articles/10.1186/s40
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http://dx.doi.org/10.1186/s40478-016-0289-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766718PMC
February 2016

Lack of association between TDP-43 pathology and tau mis-splicing in Alzheimer's disease.

Neurobiol Aging 2016 Jan 9;37:45-46. Epub 2015 Oct 9.

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.09.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706155PMC
January 2016

On the identification of low allele frequency mosaic mutations in the brains of Alzheimer's disease patients.

Alzheimers Dement 2015 Nov 29;11(11):1265-76. Epub 2015 Apr 29.

VIB Center for the Biology of Disease, KU Leuven, Leuven, Belgium; Center for Human Genetics, KU Leuven, Leuven, Belgium; Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jalz.2015.02.007DOI Listing
November 2015

Assessment of the degree of asymmetry of pathological features in neurodegenerative diseases. What is the significance for brain banks?

J Neural Transm (Vienna) 2015 Oct 29;122(10):1499-508. Epub 2015 May 29.

Department of Clinical Neuropathology, King's College Hospital, Denmark Hill, London, SE5 9RS, UK.

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http://dx.doi.org/10.1007/s00702-015-1410-8DOI Listing
October 2015

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.

Neurobiol Aging 2015 Oct 13;36(10):2908.e17-8. Epub 2015 Jul 13.

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.07.014DOI Listing
October 2015

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.

Acta Neuropathol Commun 2015 Oct 9;3:62. Epub 2015 Oct 9.

Department Of Clinical Neuropathology, Academic Neuroscience Building, King's College Hospital, Denmark Hill, SE5 9RS, London, UK.

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http://actaneurocomms.biomedcentral.com/articles/
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http://dx.doi.org/10.1186/s40478-015-0235-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4600255PMC
October 2015

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.

Acta Neuropathol Commun 2015 Jun 25;3:38. Epub 2015 Jun 25.

Department of Basic and Clinical Neurosciences, Maurice Wohl Clinical Neurosciences Institute, Institute of Psychiatry, Psychology and Neuroscience, Kings College London, London, SE5 8AF, UK.

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http://dx.doi.org/10.1186/s40478-015-0218-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479315PMC
June 2015

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes.

Neurobiol Aging 2015 May 19;36(5):2006.e1-9. Epub 2015 Feb 19.

Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.02.017DOI Listing
May 2015

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

Neurobiol Aging 2015 Mar 31;36(3):1602.e17-27. Epub 2014 Oct 31.

Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's Health Partners, King's College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.10.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357530PMC
March 2015

Evidence that the presynaptic vesicle protein CSPalpha is a key player in synaptic degeneration and protection in Alzheimer's disease.

Mol Brain 2015 Jan 29;8. Epub 2015 Jan 29.

Centre for Cellular Basis of Behaviour, Department of Neuroscience, King's College London, 125 Coldharbour Lane, London, SE5 9NU, UK.

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http://dx.doi.org/10.1186/s13041-015-0096-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4314762PMC
January 2015

Gamma-synuclein pathology in amyotrophic lateral sclerosis.

Ann Clin Transl Neurol 2015 Jan 12;2(1):29-37. Epub 2014 Dec 12.

School of Biosciences, Cardiff University Museum Avenue, Cardiff, CF10 3AX, United Kingdom.

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http://dx.doi.org/10.1002/acn3.143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4301672PMC
January 2015

The phenotypic spectrum of progressive supranuclear palsy: a retrospective multicenter study of 100 definite cases.

Mov Disord 2014 Dec 5;29(14):1758-66. Epub 2014 Nov 5.

Department of Neurology, Technische Universität München, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Department of Neurology, Philipps Universität, Marburg, Germany.

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http://www.neurokopfzentrum.med.tum.de/pdf/respondek2014.pdf
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http://doi.wiley.com/10.1002/mds.26054
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http://dx.doi.org/10.1002/mds.26054DOI Listing
December 2014

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

Cross-region reduction in 5-hydroxymethylcytosine in Alzheimer's disease brain.

Neurobiol Aging 2014 Aug 6;35(8):1850-4. Epub 2014 Feb 6.

Institute of Biomedical & Clinical Science, University of Exeter Medical School, University of Exeter, Devon, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066184PMC
August 2014

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

Acta Neuropathol Commun 2014 Jun 20;2:70. Epub 2014 Jun 20.

Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford M6 8HD, UK.

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http://dx.doi.org/10.1186/2051-5960-2-70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229740PMC
June 2014

Compromised paraspeckle formation as a pathogenic factor in FUSopathies.

Hum Mol Genet 2014 May 11;23(9):2298-312. Epub 2013 Dec 11.

School of Biosciences, Cardiff University, Museum Avenue, Cardiff CF10 3AX, UK.

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http://dx.doi.org/10.1093/hmg/ddt622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976330PMC
May 2014

Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain.

Epigenetics 2014 Apr 29;9(4):587-99. Epub 2014 Jan 29.

University of Exeter Medical School; Exeter University; Exeter, UK; Institute of Psychiatry; King's College London; London, UK.

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http://www.tandfonline.com/doi/abs/10.4161/epi.27806
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http://dx.doi.org/10.4161/epi.27806DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121369PMC
April 2014

Simulated surgical-type cerebral biopsies from post-mortem brains allows accurate neuropathological diagnoses in the majority of neurodegenerative disease groups.

Acta Neuropathol Commun 2013 Aug 19;1:53. Epub 2013 Aug 19.

Department of Clinical Neuropathology, Academic Neuroscience Building, Kings College Hospital, SE5 9RS Denmark Hill, London, England.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893367PMC
August 2013

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant.

Acta Neuropathol 2013 Feb 28;125(2):303-10. Epub 2012 Sep 28.

Department of Clinical Neuropathology, Academic Neuroscience Building, King's College Hospital, Denmark Hill, London SE5 9RS, UK,

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http://link.springer.com/10.1007/s00401-012-1050-0
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February 2013

The genetics and neuropathology of amyotrophic lateral sclerosis.

Acta Neuropathol 2012 Sep 2;124(3):339-52. Epub 2012 Aug 2.

Department of Clinical Neuroscience, King's College London, Institute of Psychiatry, De Crespigny Park, London, SE5 8AF, UK.

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http://dx.doi.org/10.1007/s00401-012-1022-4DOI Listing
September 2012

Cyclin-dependent kinase 5 activator p25 is generated during memory formation and is reduced at an early stage in Alzheimer's disease.

Biol Psychiatry 2011 Jul 26;70(2):159-68. Epub 2011 May 26.

Department of Neuroscience, Medical Research Council Centre for Neurodegeneration Research, Institute of Psychiatry, King's College London, London, UK.

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http://dx.doi.org/10.1016/j.biopsych.2011.04.011DOI Listing
July 2011

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders.

Acta Neuropathol 2011 Apr 1;121(4):519-27. Epub 2011 Mar 1.

Department of Clinical Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, Institute of Psychiatry, De Crespigny Park, London SE58AF, UK.

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http://dx.doi.org/10.1007/s00401-011-0813-3DOI Listing
April 2011

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption.

Authors:
Gunter Schumann Lachlan J Coin Anbarasu Lourdusamy Pimphen Charoen Karen H Berger David Stacey Sylvane Desrivières Fazil A Aliev Anokhi A Khan Najaf Amin Yurii S Aulchenko Georgy Bakalkin Stephan J Bakker Beverley Balkau Joline W Beulens Ainhoa Bilbao Rudolf A de Boer Delphine Beury Michiel L Bots Elemi J Breetvelt Stéphane Cauchi Christine Cavalcanti-Proença John C Chambers Toni-Kim Clarke Norbert Dahmen Eco J de Geus Danielle Dick Francesca Ducci Alanna Easton Howard J Edenberg Tõnu Esko Tõnu Esk Alberto Fernández-Medarde Tatiana Foroud Nelson B Freimer Jean-Antoine Girault Diederick E Grobbee Simonetta Guarrera Daniel F Gudbjartsson Anna-Liisa Hartikainen Andrew C Heath Victor Hesselbrock Albert Hofman Jouke-Jan Hottenga Matti K Isohanni Jaakko Kaprio Kay-Tee Khaw Brigitte Kuehnel Jaana Laitinen Stéphane Lobbens Jian'an Luan Massimo Mangino Matthieu Maroteaux Giuseppe Matullo Mark I McCarthy Christian Mueller Gerjan Navis Mattijs E Numans Alejandro Núñez Dale R Nyholt Charlotte N Onland-Moret Ben A Oostra Paul F O'Reilly Miklos Palkovits Brenda W Penninx Silvia Polidoro Anneli Pouta Inga Prokopenko Fulvio Ricceri Eugenio Santos Johannes H Smit Nicole Soranzo Kijoung Song Ulla Sovio Michael Stumvoll Ida Surakk Thorgeir E Thorgeirsson Unnur Thorsteinsdottir Claire Troakes Thorarinn Tyrfingsson Anke Tönjes Cuno S Uiterwaal Andre G Uitterlinden Pim van der Harst Yvonne T van der Schouw Oliver Staehlin Nicole Vogelzangs Peter Vollenweider Gerard Waeber Nicholas J Wareham Dawn M Waterworth John B Whitfield Erich H Wichmann Gonneke Willemsen Jacqueline C Witteman Xin Yuan Guangju Zhai Jing H Zhao Weihua Zhang Nicholas G Martin Andres Metspalu Angela Doering James Scott Tim D Spector Ruth J Loos Dorret I Boomsma Vincent Mooser Leena Peltonen Kari Stefansson Cornelia M van Duijn Paolo Vineis Wolfgang H Sommer Jaspal S Kooner Rainer Spanagel Ulrike A Heberlein Marjo-Riitta Jarvelin Paul Elliott

Proc Natl Acad Sci U S A 2011 Apr 6;108(17):7119-24. Epub 2011 Apr 6.

Medical Research Council-Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College, London SE5 8AF, United Kingdom.

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http://dx.doi.org/10.1073/pnas.1017288108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084048PMC
April 2011