Simon Mead

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Age at onset in genetic prion disease and the design of preventive clinical trials.

Neurology 2019 Jul 6;93(2):e125-e134. Epub 2019 Jun 6.

From Broad Institute of MIT and Harvard (E.V.M., S.M.V.), Cambridge; Analytical and Translational Genetics Unit (E.V.M.), Massachusetts General Hospital; Program in Biological and Biomedical Sciences (E.V.M., S.M.V.), Harvard Medical School, Boston; Prion Alliance (E.V.M., S.M.V.), Cambridge; Harvard Business School (M.C.O.), Boston, MA; Institut du Cerveau et de la Moelle Épinière (J.-P.B., S.H.), ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne Université; Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob (J.-P.B., S.H., J.-L.P.), Assistance Publique-Hôpitaux de Paris, France; National Reference Center for TSE (I.Z., C.P., P.H., T.K.), Georg-August University, Göttingen, Germany; IRCCS-Istituto delle Scienze Neurologiche di Bologna (P.P., S.C.); Departments of Experimental, Diagnostic and Specialty Medicine (P.P.) and Biomedical and Neuromotor Sciences (S.C.), University of Bologna, Italy; National Prion Disease Pathology Surveillance Center (J.S.), Case Western Reserve University, Cleveland, OH; MRC Prion Unit at UCL (J.K., S.M.), Institute of Prion Diseases, University College London, UK; Memory and Aging Center (J.C.F., L.T.T., M.D.G.), University of California San Francisco; Australian National CJD Registry (C.S., S.J.C.), University of Melbourne, Parkville, Australia; Department of Neurological Science (T.K.), Tohoku University Graduate School of Medicine, Sendai; Department of Public Health (R.A., Y.N.), Jichi Medical University, Shimotsuke; Department of Neurology and Neurobiology of Aging (T.H., M.Y.), Kanazawa University Graduate School of Medical Sciences, Kanazawa; Department of Neurology and Neurological Science (N.S.), Tokyo Medical and Dental University; National Center of Neurology and Psychiatry (T.T., H.M.), Kodaira, Japan; Laboratory of Prion Neurobiology (R.C.), Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan; AULSS2 Ca' Foncello Hospital (I.R.), Treviso, Italy; Spanish National Reference Center for CJD (J.d.P.-C., M.C.), Instituto de Salud Carlos III and CIBERNED, Madrid, Spain; and NHS National Prion Clinic (S.M.), National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Foundation Trust, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1212/WNL.0000000000007745DOI Listing
July 2019

Review: Fluid biomarkers in the human prion diseases.

Mol Cell Neurosci 2019 Jun 4;97:81-92. Epub 2018 Dec 4.

MRC Prion Unit at University College London (UCL), UCL Institute of Prion Diseases, UCL, London W1W 7FF, United Kingdom of Great Britain and Northern Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.mcn.2018.12.003DOI Listing
June 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

Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease.

Brain 2019 Mar;142(3):760-770

National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust (UCLH), London, UK.

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awy358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391599PMC
March 2019

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gena Roschupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 03 28;51(3):414-430. Epub 2019 Feb 28.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1038/s41588-019-0358-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463297PMC
March 2019

Early onset cerebral amyloid angiopathy following childhood exposure to cadaveric dura.

Ann Neurol 2019 Feb 17;85(2):284-290. Epub 2019 Jan 17.

Stroke Research Centre, Department of Brain Repair and Rehabilitation, University College London Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London.

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http://doi.wiley.com/10.1002/ana.25407
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http://dx.doi.org/10.1002/ana.25407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6492172PMC
February 2019

Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease.

Alzheimers Res Ther 2019 Feb 20;11(1):19. Epub 2019 Feb 20.

Dementia Research Centre, Department of Neurodegenerative Diseases, UCL Institute of Neurology, Queen Square, Box 16, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1186/s13195-019-0472-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383280PMC
February 2019

Evaluating the causality of novel sequence variants in the prion protein gene by example.

Neurobiol Aging 2018 11 15;71:265.e1-265.e7. Epub 2018 May 15.

MRC Prion Unit, UCL Institute of Prion Diseases, London, UK; National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCLH NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175539PMC
November 2018

Reply to: Intrinsic Toxicity of Antibodies to the Globular Domain of the Prion Protein.

Biol Psychiatry 2018 10 12;84(7):e53-e54. Epub 2018 Apr 12.

Medical Research Council Prion Unit, Institute of Prion Diseases, University College London, London, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00063223183143
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http://dx.doi.org/10.1016/j.biopsych.2018.04.002DOI Listing
October 2018

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.

Brain 2018 10;141(10):2895-2907

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1093/brain/awy238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158742PMC
October 2018

The most problematic symptoms of prion disease - an analysis of carer experiences.

Int Psychogeriatr 2018 Oct 24:1-10. Epub 2018 Oct 24.

NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery,University College London (UCL) Hospitals NHS Foundation Trust,London,UK.

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http://dx.doi.org/10.1017/S1041610218001588DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372072PMC
October 2018

Clinical trials.

Handb Clin Neurol 2018 ;153:431-444

Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan, Italy.

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http://dx.doi.org/10.1016/B978-0-444-63945-5.00024-6DOI Listing
September 2018

Plasma tau is increased in frontotemporal dementia.

J Neurol Neurosurg Psychiatry 2018 Aug 13;89(8):804-807. Epub 2018 Feb 13.

Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/jnnp-2017-317260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204947PMC
August 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

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

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

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

Methods for Molecular Diagnosis of Human Prion Disease.

Methods Mol Biol 2017 ;1658:311-346

MRC Prion Unit at UCL, UCL Institute of Prion Diseases, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/978-1-4939-7244-9_22DOI Listing
May 2018

Imaging and CSF analyses effectively distinguish CJD from its mimics.

J Neurol Neurosurg Psychiatry 2018 May 15;89(5):461-466. Epub 2017 Nov 15.

MRC Prion Unit at UCL, UCL Institute of Prion Diseases, London, UK.

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http://dx.doi.org/10.1136/jnnp-2017-316853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5909756PMC
May 2018

Evidence of amyloid-β cerebral amyloid angiopathy transmission through neurosurgery.

Acta Neuropathol 2018 05 15;135(5):671-679. Epub 2018 Feb 15.

Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s00401-018-1822-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904220PMC
May 2018

Detection of Creutzfeldt-Jakob disease prions in skin: implications for healthcare.

Genome Med 2018 03 26;10(1):22. Epub 2018 Mar 26.

National Prion Clinic, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1186/s13073-018-0536-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868066PMC
March 2018

The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature.

PLoS One 2018 5;13(1):e0190818. Epub 2018 Jan 5.

NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery (NHNN), University College London Hospitals NHS Foundation Trust, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0190818PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5755885PMC
February 2018

Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study.

Neuroimage Clin 2017 2;13:89-96. Epub 2016 Nov 2.

National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCLH Hospitals NHS Foundation Trust, Box 98, Queen Square, London WC1N 3BG, United Kingdom; MRC Prion Unit, Department of Neurodegenerative Diseases, UCL Institute of Neurology, Queen Square House, Queen Square, London WC1N 3BG, United Kingdom.

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http://dx.doi.org/10.1016/j.nicl.2016.10.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133666PMC
November 2017

The TMEM106B risk allele is associated with lower cortical volumes in a clinically diagnosed frontotemporal dementia cohort.

J Neurol Neurosurg Psychiatry 2017 11 26;88(11):997-998. Epub 2017 Apr 26.

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1136/jnnp-2017-315641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740537PMC
November 2017

Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration.

Neurology 2017 Nov 25;89(21):2167-2175. Epub 2017 Oct 25.

From the Dementia Research Centre (P.S.J.W., T.P., N.S.R., A.N., Y.L., K.M., I.B.M., R.L.A., H.P., J.K., M.N.R., J.M.S., N.C.F.) and MRC Prion Unit (R.D., S.M.), Department of Neurodegenerative Diseases, UCL Institute of Neurology; Department of Medical Statistics (T.P.), London School of Hygiene & Tropical Medicine, UK; and Clinical Neurochemistry Laboratory, Institute of Neuroscience and Physiology (K.B., H.Z.), the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.

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http://dx.doi.org/10.1212/WNL.0000000000004667DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696646PMC
November 2017

A novel prion protein variant in a patient with semantic dementia.

J Neurol Neurosurg Psychiatry 2017 10 1;88(10):890-892. Epub 2017 Jun 1.

MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/jnnp-2017-315577DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629930PMC
October 2017

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Lancet Neurol 2017 09 20;16(9):701-711. Epub 2017 Jun 20.

UCL Huntington's Disease Centre, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(17)30161-8DOI Listing
September 2017

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Authors:
Rebecca Sims Sven J van der Lee Adam C Naj Céline Bellenguez Nandini Badarinarayan Johanna Jakobsdottir Brian W Kunkle Anne Boland Rachel Raybould Joshua C Bis Eden R Martin Benjamin Grenier-Boley Stefanie Heilmann-Heimbach Vincent Chouraki Amanda B Kuzma Kristel Sleegers Maria Vronskaya Agustin Ruiz Robert R Graham Robert Olaso Per Hoffmann Megan L Grove Badri N Vardarajan Mikko Hiltunen Markus M Nöthen Charles C White Kara L Hamilton-Nelson Jacques Epelbaum Wolfgang Maier Seung-Hoan Choi Gary W Beecham Cécile Dulary Stefan Herms Albert V Smith Cory C Funk Céline Derbois Andreas J Forstner Shahzad Ahmad Hongdong Li Delphine Bacq Denise Harold Claudia L Satizabal Otto Valladares Alessio Squassina Rhodri Thomas Jennifer A Brody Liming Qu Pascual Sánchez-Juan Taniesha Morgan Frank J Wolters Yi Zhao Florentino Sanchez Garcia Nicola Denning Myriam Fornage John Malamon Maria Candida Deniz Naranjo Elisa Majounie Thomas H Mosley Beth Dombroski David Wallon Michelle K Lupton Josée Dupuis Patrice Whitehead Laura Fratiglioni Christopher Medway Xueqiu Jian Shubhabrata Mukherjee Lina Keller Kristelle Brown Honghuang Lin Laura B Cantwell Francesco Panza Bernadette McGuinness Sonia Moreno-Grau Jeremy D Burgess Vincenzo Solfrizzi Petra Proitsi Hieab H Adams Mariet Allen Davide Seripa Pau Pastor L Adrienne Cupples Nathan D Price Didier Hannequin Ana Frank-García Daniel Levy Paramita Chakrabarty Paolo Caffarra Ina Giegling Alexa S Beiser Vilmantas Giedraitis Harald Hampel Melissa E Garcia Xue Wang Lars Lannfelt Patrizia Mecocci Gudny Eiriksdottir Paul K Crane Florence Pasquier Virginia Boccardi Isabel Henández Robert C Barber Martin Scherer Lluis Tarraga Perrie M Adams Markus Leber Yuning Chen Marilyn S Albert Steffi Riedel-Heller Valur Emilsson Duane Beekly Anne Braae Reinhold Schmidt Deborah Blacker Carlo Masullo Helena Schmidt Rachelle S Doody Gianfranco Spalletta W T Longstreth Thomas J Fairchild Paola Bossù Oscar L Lopez Matthew P Frosch Eleonora Sacchinelli Bernardino Ghetti Qiong Yang Ryan M Huebinger Frank Jessen Shuo Li M Ilyas Kamboh John Morris Oscar Sotolongo-Grau Mindy J Katz Chris Corcoran Melanie Dunstan Amy Braddel Charlene Thomas Alun Meggy Rachel Marshall Amy Gerrish Jade Chapman Miquel Aguilar Sarah Taylor Matt Hill Mònica Díez Fairén Angela Hodges Bruno Vellas Hilkka Soininen Iwona Kloszewska Makrina Daniilidou James Uphill Yogen Patel Joseph T Hughes Jenny Lord James Turton Annette M Hartmann Roberta Cecchetti Chiara Fenoglio Maria Serpente Marina Arcaro Carlo Caltagirone Maria Donata Orfei Antonio Ciaramella Sabrina Pichler Manuel Mayhaus Wei Gu Alberto Lleó Juan Fortea Rafael Blesa Imelda S Barber Keeley Brookes Chiara Cupidi Raffaele Giovanni Maletta David Carrell Sandro Sorbi Susanne Moebus Maria Urbano Alberto Pilotto Johannes Kornhuber Paolo Bosco Stephen Todd David Craig Janet Johnston Michael Gill Brian Lawlor Aoibhinn Lynch Nick C Fox John Hardy Roger L Albin Liana G Apostolova Steven E Arnold Sanjay Asthana Craig S Atwood Clinton T Baldwin Lisa L Barnes Sandra Barral Thomas G Beach James T Becker Eileen H Bigio Thomas D Bird Bradley F Boeve James D Bowen Adam Boxer James R Burke Jeffrey M Burns Joseph D Buxbaum Nigel J Cairns Chuanhai Cao Chris S Carlson Cynthia M Carlsson Regina M Carney Minerva M Carrasquillo Steven L Carroll Carolina Ceballos Diaz Helena C Chui David G Clark David H Cribbs Elizabeth A Crocco Charles DeCarli Malcolm Dick Ranjan Duara Denis A Evans Kelley M Faber Kenneth B Fallon David W Fardo Martin R Farlow Steven Ferris Tatiana M Foroud Douglas R Galasko Marla Gearing Daniel H Geschwind John R Gilbert Neill R Graff-Radford Robert C Green John H Growdon Ronald L Hamilton Lindy E Harrell Lawrence S Honig Matthew J Huentelman Christine M Hulette Bradley T Hyman Gail P Jarvik Erin Abner Lee-Way Jin Gyungah Jun Anna Karydas Jeffrey A Kaye Ronald Kim Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Ge Li Andrew P Lieberman Kathryn L Lunetta Constantine G Lyketsos Daniel C Marson Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller John C Morris Jill R Murrell Amanda J Myers Sid O'Bryant John M Olichney Vernon S Pankratz Joseph E Parisi Henry L Paulson William Perry Elaine Peskind Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Ekaterina Rogaeva Howard J Rosen Roger N Rosenberg Mark A Sager Andrew J Saykin Julie A Schneider Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Fabienne Garzia Feroze Golamaully Gislain Septier Sebastien Engelborghs Rik Vandenberghe Peter P De Deyn Carmen Muñoz Fernadez Yoland Aladro Benito Hakan Thonberg Charlotte Forsell Lena Lilius Anne Kinhult-Stählbom Lena Kilander RoseMarie Brundin Letizia Concari Seppo Helisalmi Anne Maria Koivisto Annakaisa Haapasalo Vincent Dermecourt Nathalie Fievet Olivier Hanon Carole Dufouil Alexis Brice Karen Ritchie Bruno Dubois Jayanadra J Himali C Dirk Keene JoAnn Tschanz Annette L Fitzpatrick Walter A Kukull Maria Norton Thor Aspelund Eric B Larson Ron Munger Jerome I Rotter Richard B Lipton María J Bullido Albert Hofman Thomas J Montine Eliecer Coto Eric Boerwinkle Ronald C Petersen Victoria Alvarez Fernando Rivadeneira Eric M Reiman Maura Gallo Christopher J O'Donnell Joan S Reisch Amalia Cecilia Bruni Donald R Royall Martin Dichgans Mary Sano Daniela Galimberti Peter St George-Hyslop Elio Scarpini Debby W Tsuang Michelangelo Mancuso Ubaldo Bonuccelli Ashley R Winslow Antonio Daniele Chuang-Kuo Wu Oliver Peters Benedetta Nacmias Matthias Riemenschneider Reinhard Heun Carol Brayne David C Rubinsztein Jose Bras Rita Guerreiro Ammar Al-Chalabi Christopher E Shaw John Collinge David Mann Magda Tsolaki Jordi Clarimón Rebecca Sussams Simon Lovestone Michael C O'Donovan Michael J Owen Timothy W Behrens Simon Mead Alison M Goate Andre G Uitterlinden Clive Holmes Carlos Cruchaga Martin Ingelsson David A Bennett John Powell Todd E Golde Caroline Graff Philip L De Jager Kevin Morgan Nilufer Ertekin-Taner Onofre Combarros Bruce M Psaty Peter Passmore Steven G Younkin Claudine Berr Vilmundur Gudnason Dan Rujescu Dennis W Dickson Jean-François Dartigues Anita L DeStefano Sara Ortega-Cubero Hakon Hakonarson Dominique Campion Merce Boada John Keoni Kauwe Lindsay A Farrer Christine Van Broeckhoven M Arfan Ikram Lesley Jones Jonathan L Haines Christophe Tzourio Lenore J Launer Valentina Escott-Price Richard Mayeux Jean-François Deleuze Najaf Amin Peter A Holmans Margaret A Pericak-Vance Philippe Amouyel Cornelia M van Duijn Alfredo Ramirez Li-San Wang Jean-Charles Lambert Sudha Seshadri Julie Williams Gerard D Schellenberg

Nat Genet 2017 09 17;49(9):1373-1384. Epub 2017 Jul 17.

Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/ng.3916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669039PMC
September 2017

CJD mimics and chameleons.

Pract Neurol 2017 Apr 2;17(2):113-121. Epub 2017 Feb 2.

NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/practneurol-2016-001571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520355PMC
April 2017

Diagnosing Sporadic Creutzfeldt-Jakob Disease by the Detection of Abnormal Prion Protein in Patient Urine.

JAMA Neurol 2016 Dec;73(12):1454-1460

MRC Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, London, England.

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http://dx.doi.org/10.1001/jamaneurol.2016.3733DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701732PMC
December 2016

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.

Lancet Neurol 2016 Dec 21;15(13):1326-1335. Epub 2016 Oct 21.

Dementia Research Centre, Department of Neurodegenerative Disease, University College London Institute of Neurology, London, UK.

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http://dx.doi.org/10.1016/S1474-4422(16)30193-4DOI Listing
December 2016

Quantitative EEG parameters correlate with the progression of human prion diseases.

J Neurol Neurosurg Psychiatry 2016 Oct 13;87(10):1061-7. Epub 2016 Jul 13.

NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/jnnp-2016-313501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036210PMC
October 2016

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.

Neurobiol Aging 2016 10 4;46:236.e1-6. Epub 2016 Jul 4.

Department of Molecular Neuroscience, 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/j.neurobiolaging.2016.06.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5166571PMC
October 2016

Use of Diffusion-Weighted Magnetic Resonance Imaging in Sporadic Creutzfeldt-Jakob Disease-Reply.

JAMA Neurol 2016 09;73(9):1154

MRC Prion Unit, Department of Neurodegenerative Diseases, UCL Institute of Neurology, London, England.

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http://dx.doi.org/10.1001/jamaneurol.2016.2384DOI Listing
September 2016

Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia.

Neurology 2016 Sep 31;87(13):1329-36. Epub 2016 Aug 31.

From the Dementia Research Centre (J.D.R., I.O.C.W., K.M.D., E.B., E.G., A.F., M.J.C., S.O., J.M.N., J.M.S., N.C.F., J.D.W.), MRC Prion Unit (S.M., R.D.), Department of Neurodegenerative Disease, and Department of Molecular Neuroscience (J.T., H.Z.), UCL Institute of Neurology, Queen Square; Centre for Medical Image Computing (J.M.C., S.O.), University College London; Department of Medical Statistics (J.M.N.), London School of Hygiene and Tropical Medicine, UK; UmanDiagnostics (N.N.), Umeå; and Clinical Neurochemistry Laboratory (U.A., K.B., H.Z.), Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.

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http://dx.doi.org/10.1212/WNL.0000000000003154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5047041PMC
September 2016

Collinge et al. reply.

Nature 2016 09;537(7620):E7-9

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1038/nature19087DOI Listing
September 2016

Collinge et al. reply.

Nature 2016 07;535(7611):E2-3

Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1038/nature18603DOI Listing
July 2016

Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes.

Neurology 2016 05 1;86(18):1736-43. Epub 2016 Apr 1.

From the Department of Clinical Neurosciences (I.T.S.C.-G., K.P., P.V.R., A.W., C.J.L., K.E.D., J.W., J.B.R.) and Cambridge Institute of Public Health (C.B.), University of Cambridge; Dementia Research Centre (K.M.D.) and MRC Prion Unit and Department of Neurodegenerative Disease (S.M.), University College London, UK; and University Medical Center Eppendorf (E.W.), University Hamburg, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000002638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854589PMC
May 2016

Clinical Trial Simulations Based on Genetic Stratification and the Natural History of a Functional Outcome Measure in Creutzfeldt-Jakob Disease.

JAMA Neurol 2016 Apr;73(4):447-55

Medical Research Council Prion Unit, Department of Neurodegnerative Disease, University College London Institute of Neurology, London, England2National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College London Hospitals, NH.

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http://dx.doi.org/10.1001/jamaneurol.2015.4885DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701731PMC
April 2016

Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study.

BMC Med Genet 2016 Apr 7;17:28. Epub 2016 Apr 7.

MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1186/s12881-016-0278-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823897PMC
April 2016

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.

Brain 2016 Feb 11;139(Pt 2):e9. Epub 2015 Sep 11.

1 Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK 4 Sobell Department of Motor Neuroscience and Movement Disorders, Queen Square, London, WC1N 3BG, UK

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http://dx.doi.org/10.1093/brain/awv223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963427PMC
February 2016

Review: an update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations.

Neuropathol Appl Neurobiol 2015 Dec 6;41(7):858-81. Epub 2015 Jul 6.

Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/nan.12250DOI Listing
December 2015

Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years.

Brain 2015 Nov 11;138(Pt 11):3386-99. Epub 2015 Aug 11.

1 National Prion Clinic, National Hospital for Neurology and Neurosurgery (NHNN), University College London (UCL) Hospitals NHS Foundation Trust, Queen Square, London WC1N 3BG, UK 2 MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
Publisher Site
http://dx.doi.org/10.1093/brain/awv235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4620512PMC
November 2015

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

Authors:
Valentina Escott-Price Céline Bellenguez Li-San Wang Seung-Hoan Choi Denise Harold Lesley Jones Peter Holmans Amy Gerrish Alexey Vedernikov Alexander Richards Anita L DeStefano Jean-Charles Lambert Carla A Ibrahim-Verbaas Adam C Naj Rebecca Sims Gyungah Jun Joshua C Bis Gary W Beecham Benjamin Grenier-Boley Giancarlo Russo Tricia A Thornton-Wells Nicola Denning Albert V Smith Vincent Chouraki Charlene Thomas M Arfan Ikram Diana Zelenika Badri N Vardarajan Yoichiro Kamatani Chiao-Feng Lin Helena Schmidt Brian Kunkle Melanie L Dunstan Maria Vronskaya Andrew D Johnson Agustin Ruiz Marie-Thérèse Bihoreau Christiane Reitz Florence Pasquier Paul Hollingworth Olivier Hanon Annette L Fitzpatrick Joseph D Buxbaum Dominique Campion Paul K Crane Clinton Baldwin Tim Becker Vilmundur Gudnason Carlos Cruchaga David Craig Najaf Amin Claudine Berr Oscar L Lopez Philip L De Jager Vincent Deramecourt Janet A Johnston Denis Evans Simon Lovestone Luc Letenneur Isabel Hernández David C Rubinsztein Gudny Eiriksdottir Kristel Sleegers Alison M Goate Nathalie Fiévet Matthew J Huentelman Michael Gill Kristelle Brown M Ilyas Kamboh Lina Keller Pascale Barberger-Gateau Bernadette McGuinness Eric B Larson Amanda J Myers Carole Dufouil Stephen Todd David Wallon Seth Love Ekaterina Rogaeva John Gallacher Peter St George-Hyslop Jordi Clarimon Alberto Lleo Anthony Bayer Debby W Tsuang Lei Yu Magda Tsolaki Paola Bossù Gianfranco Spalletta Petra Proitsi John Collinge Sandro Sorbi Florentino Sanchez Garcia Nick C Fox John Hardy Maria Candida Deniz Naranjo Paolo Bosco Robert Clarke Carol Brayne Daniela Galimberti Elio Scarpini Ubaldo Bonuccelli Michelangelo Mancuso Gabriele Siciliano Susanne Moebus Patrizia Mecocci Maria Del Zompo Wolfgang Maier Harald Hampel Alberto Pilotto Ana Frank-García Francesco Panza Vincenzo Solfrizzi Paolo Caffarra Benedetta Nacmias William Perry Manuel Mayhaus Lars Lannfelt Hakon Hakonarson Sabrina Pichler Minerva M Carrasquillo Martin Ingelsson Duane Beekly Victoria Alvarez Fanggeng Zou Otto Valladares Steven G Younkin Eliecer Coto Kara L Hamilton-Nelson Wei Gu Cristina Razquin Pau Pastor Ignacio Mateo Michael J Owen Kelley M Faber Palmi V Jonsson Onofre Combarros Michael C O'Donovan Laura B Cantwell Hilkka Soininen Deborah Blacker Simon Mead Thomas H Mosley David A Bennett Tamara B Harris Laura Fratiglioni Clive Holmes Renee F A G de Bruijn Peter Passmore Thomas J Montine Karolien Bettens Jerome I Rotter Alexis Brice Kevin Morgan Tatiana M Foroud Walter A Kukull Didier Hannequin John F Powell Michael A Nalls Karen Ritchie Kathryn L Lunetta John S K Kauwe Eric Boerwinkle Matthias Riemenschneider Mercè Boada Mikko Hiltunen Eden R Martin Reinhold Schmidt Dan Rujescu Jean-François Dartigues Richard Mayeux Christophe Tzourio Albert Hofman Markus M Nöthen Caroline Graff Bruce M Psaty Jonathan L Haines Mark Lathrop Margaret A Pericak-Vance Lenore J Launer Christine Van Broeckhoven Lindsay A Farrer Cornelia M van Duijn Alfredo Ramirez Sudha Seshadri Gerard D Schellenberg Philippe Amouyel Julie Williams

PLoS One 2014 12;9(6):e94661. Epub 2014 Jun 12.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4055488PMC
October 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

Evidence for human transmission of amyloid-β pathology and cerebral amyloid angiopathy.

Nature 2015 Sep;525(7568):247-50

Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1038/nature15369DOI Listing
September 2015

Neuronal antibodies in patients with suspected or confirmed sporadic Creutzfeldt-Jakob disease.

J Neurol Neurosurg Psychiatry 2015 Jun 22;86(6):692-4. Epub 2014 Sep 22.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1136/jnnp-2014-308695DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4453627PMC
June 2015

Rare structural genetic variation in human prion diseases.

Neurobiol Aging 2015 May 22;36(5):2004.e1-8. Epub 2015 Jan 22.

MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.01.011DOI Listing
May 2015

The cognitive profile of prion disease: a prospective clinical and imaging study.

Ann Clin Transl Neurol 2015 May 7;2(5):548-58. Epub 2015 Apr 7.

NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery (NHNN), University College London Hospitals NHS Foundation Trust London, United Kingdom ; MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology London, United Kingdom.

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http://dx.doi.org/10.1002/acn3.195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435708PMC
May 2015

Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.

Neurobiol Aging 2015 Mar 12;36(3):1601.e1-5. Epub 2014 Dec 12.

Faculty of Human and Medical Sciences, Institute of Brain Behaviour and Mental Health, University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4353501PMC
March 2015

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.

Lancet Neurol 2015 Mar 29;14(3):291-301. Epub 2015 Jan 29.

Dementia Research Centre, University College London (UCL) Institute of Neurology, London, UK.

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http://dx.doi.org/10.1016/S1474-4422(14)70233-9DOI Listing
March 2015

A new prion disease: relationship with central and peripheral amyloidoses.

Nat Rev Neurol 2015 Feb 27;11(2):90-7. Epub 2015 Jan 27.

MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1038/nrneurol.2014.263DOI Listing
February 2015

Predictive testing for inherited prion disease: report of 22 years experience.

Eur J Hum Genet 2014 Dec 9;22(12):1351-6. Epub 2014 Apr 9.

1] NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College Hospitals NHS Trust, London, UK [2] MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1038/ejhg.2014.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4091984PMC
December 2014

In vitro screen of prion disease susceptibility genes using the scrapie cell assay.

Hum Mol Genet 2014 Oct 15;23(19):5102-8. Epub 2014 May 15.

MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK

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http://dx.doi.org/10.1093/hmg/ddu233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159154PMC
October 2014

Altered body schema processing in frontotemporal dementia with C9ORF72 mutations.

J Neurol Neurosurg Psychiatry 2014 Sep 12;85(9):1016-23. Epub 2014 Feb 12.

Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1136/jnnp-2013-306995DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145454PMC
September 2014

Blood test for variant Creutzfeldt-Jakob disease--reply.

JAMA Neurol 2014 Aug;71(8):1054-5

MRC Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, London, England3National Prion Clinic, National Hospital for Neurology and Neurosurgery, London, England.

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http://dx.doi.org/10.1001/jamaneurol.2014.1539DOI Listing
August 2014

Frontotemporal dementia and its subtypes: a genome-wide association study.

Authors:
Raffaele Ferrari Dena G Hernandez Michael A Nalls Jonathan D Rohrer Adaikalavan Ramasamy John B J Kwok Carol Dobson-Stone William S Brooks Peter R Schofield Glenda M Halliday John R Hodges Olivier Piguet Lauren Bartley Elizabeth Thompson Eric Haan Isabel Hernández Agustín Ruiz Mercè Boada Barbara Borroni Alessandro Padovani Carlos Cruchaga Nigel J Cairns Luisa Benussi Giuliano Binetti Roberta Ghidoni Gianluigi Forloni Daniela Galimberti Chiara Fenoglio Maria Serpente Elio Scarpini Jordi Clarimón Alberto Lleó Rafael Blesa Maria Landqvist Waldö Karin Nilsson Christer Nilsson Ian R A Mackenzie Ging-Yuek R Hsiung David M A Mann Jordan Grafman Christopher M Morris Johannes Attems Timothy D Griffiths Ian G McKeith Alan J Thomas P Pietrini Edward D Huey Eric M Wassermann Atik Baborie Evelyn Jaros Michael C Tierney Pau Pastor Cristina Razquin Sara Ortega-Cubero Elena Alonso Robert Perneczky Janine Diehl-Schmid Panagiotis Alexopoulos Alexander Kurz Innocenzo Rainero Elisa Rubino Lorenzo Pinessi Ekaterina Rogaeva Peter St George-Hyslop Giacomina Rossi Fabrizio Tagliavini Giorgio Giaccone James B Rowe Johannes C M Schlachetzki James Uphill John Collinge Simon Mead Adrian Danek Vivianna M Van Deerlin Murray Grossman John Q Trojanowski Julie van der Zee William Deschamps Tim Van Langenhove Marc Cruts Christine Van Broeckhoven Stefano F Cappa Isabelle Le Ber Didier Hannequin Véronique Golfier Martine Vercelletto Alexis Brice Benedetta Nacmias Sandro Sorbi Silvia Bagnoli Irene Piaceri Jørgen E Nielsen Lena E Hjermind Matthias Riemenschneider Manuel Mayhaus Bernd Ibach Gilles Gasparoni Sabrina Pichler Wei Gu Martin N Rossor Nick C Fox Jason D Warren Maria Grazia Spillantini Huw R Morris Patrizia Rizzu Peter Heutink Julie S Snowden Sara Rollinson Anna Richardson Alexander Gerhard Amalia C Bruni Raffaele Maletta Francesca Frangipane Chiara Cupidi Livia Bernardi Maria Anfossi Maura Gallo Maria Elena Conidi Nicoletta Smirne Rosa Rademakers Matt Baker Dennis W Dickson Neill R Graff-Radford Ronald C Petersen David Knopman Keith A Josephs Bradley F Boeve Joseph E Parisi William W Seeley Bruce L Miller Anna M Karydas Howard Rosen John C van Swieten Elise G P Dopper Harro Seelaar Yolande A L Pijnenburg Philip Scheltens Giancarlo Logroscino Rosa Capozzo Valeria Novelli Annibale A Puca Massimo Franceschi Alfredo Postiglione Graziella Milan Paolo Sorrentino Mark Kristiansen Huei-Hsin Chiang Caroline Graff Florence Pasquier Adeline Rollin Vincent Deramecourt Florence Lebert Dimitrios Kapogiannis Luigi Ferrucci Stuart Pickering-Brown Andrew B Singleton John Hardy Parastoo Momeni

Lancet Neurol 2014 Jul;13(7):686-99

Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Science Center, Lubbock, Texas, USA.

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http://dx.doi.org/10.1016/S1474-4422(14)70065-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112126PMC
July 2014

A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.

Neuropathol Appl Neurobiol 2014 Jun;40(4):502-13

Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/nan.12100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4260146PMC
June 2014

Population screening for variant Creutzfeldt-Jakob disease using a novel blood test: diagnostic accuracy and feasibility study.

JAMA Neurol 2014 Apr;71(4):421-8

MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, England5National Prion Clinic, National Hospital for Neurology and Neurosurgery, Queen Square, London, England.

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http://dx.doi.org/10.1001/jamaneurol.2013.6001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4158718PMC
April 2014

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.

Acta Neuropathol 2014 Mar 19;127(3):407-18. Epub 2014 Jan 19.

Cell and Molecular Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s00401-013-1239-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4003885PMC
March 2014

Variant Creutzfeldt-Jakob disease with extremely low lymphoreticular deposition of prion protein.

JAMA Neurol 2014 Mar;71(3):340-3

National Prion Clinic, National Hospital for Neurology and Neurosurgery, Queen Square, London, England2Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London, En.

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http://dx.doi.org/10.1001/jamaneurol.2013.5378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4158717PMC
March 2014

The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.

Acta Neuropathol 2014 Mar 11;127(3):319-32. Epub 2014 Feb 11.

MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s00401-014-1253-7DOI Listing
March 2014

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.

Neurology 2014 Jan 20;82(4):292-9. Epub 2013 Dec 20.

From the Departments of Neurodegenerative Disease (D.J.H.M., P.M., E.J.W., S.M., S.J.T.) and Molecular Neuroscience (H.H.), UCL Institute of Neurology, London; MRC Prion Unit (M.P., J.B., T.C., G.A.), London; and Neurogenetics Unit (J.H., J.M.P., E.M., A.H., M.G.S., H.H.), National Hospital for Neurology and Neurosurgery, University College London Hospitals, UK.

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http://dx.doi.org/10.1212/WNL.0000000000000061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3929197PMC
January 2014

A highly specific blood test for vCJD.

Blood 2014 Jan;123(3):452-3

Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1182/blood-2013-11-539239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3894497PMC
January 2014

Creutzfeld-Jakob disease--reply.

JAMA Neurol 2013 Dec;70(12):1589

Department of Clinical Neurosciences, Royal Free Hospital, London, England.

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http://dx.doi.org/10.1001/jamaneurol.2013.4777DOI Listing
December 2013

A novel prion disease associated with diarrhea and autonomic neuropathy.

N Engl J Med 2013 Nov;369(20):1904-14

Medical Research Council (MRC) Prion Unit (S.M., J.B., C.C., S.J., J.M.L., H.A.-D., B.S., M.K.S., S.B., J.D.F.W., J.C.), Department of Molecular Neuroscience (S.G., N.W.W.), and Dementia Research Centre, Department of Neurodegenerative Disease (J.D.W.), and MRC Centre for Neuromuscular Diseases (M.M.R.), University College London (UCL) Institute of Neurology; the National Prion Clinic (S.M., D.C., D.G., H.H., P.R., J.C.), National Hospital for Neurology and Neurosurgery (M.K.), UCL Hospitals National Health Service Trust (A.F.); and the Queen Square Brain Bank (H.A., T.L., T.R., J.L.H.) - all in London.

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http://dx.doi.org/10.1056/NEJMoa1214747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863770PMC
November 2013

Autoantibodies in sporadic Creutzfeldt-Jakob disease.

JAMA Neurol 2013 Jul;70(7):919-22

Clinical Neurosciences, Royal Free London NHS Foundation Trust, London NW3 2QG, England.

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http://dx.doi.org/10.1001/jamaneurol.2013.2077DOI Listing
July 2013

Genetics of prion diseases.

Curr Opin Genet Dev 2013 Jun 19;23(3):345-51. Epub 2013 Mar 19.

MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.gde.2013.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3705206PMC
June 2013

MRI findings are often missed in the diagnosis of Creutzfeldt-Jakob disease.

BMC Neurol 2012 Dec 5;12:153. Epub 2012 Dec 5.

MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, and National Prion Clinic, University College London Hospitals NHS Trust, WC1N 3BG, London, UK.

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http://dx.doi.org/10.1186/1471-2377-12-153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3604954PMC
December 2012

Video Rating in Neurodegenerative Disease Clinical Trials: The Experience of PRION-1.

Dement Geriatr Cogn Dis Extra 2012 Jan 8;2(1):286-97. Epub 2012 Aug 8.

MRC Prion Unit and Department of Neurodegenerative Disease, University College London Institute of Neurology, and National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, UK.

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http://dx.doi.org/10.1159/000339730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3435531PMC
January 2012