Rita Guerreiro

Rita Guerreiro

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Rita Guerreiro

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Heritability and genetic variance of dementia with Lewy bodies.

Neurobiol Dis 2019 Jul 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

Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment.

Transl Psychiatry 2019 May 24;9(1):154. Epub 2019 May 24.

Institute of Neuroscience Biomedical Research Building Campus for Ageing and Vitality Newcastle University, Newcastle upon Tyne, NE4 5PL, UK.

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http://dx.doi.org/10.1038/s41398-019-0485-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534556PMC
May 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

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

Cutaneous markers of occult spinal dysraphism.

Pediatr Neonatol 2019 Mar 27. Epub 2019 Mar 27.

Department of Paediatrics, Hospital Garcia de Orta, EPE, Almada, Portugal.

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https://linkinghub.elsevier.com/retrieve/pii/S18759572183071
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http://dx.doi.org/10.1016/j.pedneo.2019.03.010DOI Listing
March 2019

LRP10 in α-synucleinopathies.

Lancet Neurol 2018 12 13;17(12):1032-1033. Epub 2018 Nov 13.

UK Dementia Research Institute at University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30399-5DOI Listing
December 2018

splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria.

Neurol Genet 2018 Oct 19;4(5):e273. Epub 2018 Sep 19.

Department of Molecular Neuroscience (S.C., J.B., R.G.), UCL Institute of Neurology, University College London, United Kingdom; Paediatric Neurology Department (C.M., S.T.D.), Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central; Genetics Department (M.A.), Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central; Reference Center of Inherited Metabolic Diseases (A.C.F.), Centro Hospitalar de Lisboa Central; Neuroradiology Department (C.C.), Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal; UK Dementia Research Institute (J.B., R.G.), University College London, United Kingdom; and Department of Medical Sciences (J.B., R.G.), Institute of Biomedicine, iBiMED, University of Aveiro, Portugal.

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http://dx.doi.org/10.1212/NXG.0000000000000273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167175PMC
October 2018

The genetic landscape of Alzheimer disease.

Handb Clin Neurol 2018 ;148:395-408

Department of Molecular Neuroscience, University College London Institute of Neurology, London, United Kingdom; Department of Medical Sciences, Institute of Biomedicine iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-64076-5.00026-0DOI Listing
August 2018

The role of TREM2 in Alzheimer's disease and other neurodegenerative disorders.

Lancet Neurol 2018 08 17;17(8):721-730. Epub 2018 Jul 17.

UK Dementia Research Institute, University College London, London, UK; 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/S1474-4422(18)30232-1DOI Listing
August 2018

The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions.

Curr Neurol Neurosci Rep 2018 Aug 10;18(10):67. Epub 2018 Aug 10.

Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1007/s11910-018-0874-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097049PMC
August 2018

Genetics of dementia in a Finnish cohort.

Eur J Hum Genet 2018 06 23;26(6):827-837. Epub 2018 Feb 23.

Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1038/s41431-018-0117-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974394PMC
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

Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family.

Neurol Genet 2018 Feb 24;4(1):e215. Epub 2018 Jan 24.

Department of Internal Medicine (S.C., L.S.M.), School of Medicine, Federal University of Minas Gerais; Neurology Service (S.C., L.S.M.), Hospital das Clinicas, Federal University de Minas Gerais, Belo Horizonte, Brazil; Department of Molecular Neuroscience (R.G., J.B.), UCL Institute of Neurology, London, United Kingdom; and Department of Medical Sciences (R.G., J.B.), Institute of Biomedicine iBiMED, University of Aveiro, Portugal.

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http://dx.doi.org/10.1212/NXG.0000000000000215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820599PMC
February 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

Mutations in TYROBP are not a common cause of dementia in a Turkish cohort.

Neurobiol Aging 2017 10 28;58:240.e1-240.e3. Epub 2017 Jun 28.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.06.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985528PMC
October 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

Mutations in a Sibship with Multifocal Polymyoclonus.

Tremor Other Hyperkinet Mov (N Y) 2017 13;7:452. Epub 2017 Apr 13.

Neurosciences Unit, University College London, Institute of Child Health, London, UK.

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http://dx.doi.org/10.7916/D8Q52VBVDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395678PMC
April 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

CLN8 disease caused by large genomic deletions.

Mol Genet Genomic Med 2017 Jan 23;5(1):85-91. Epub 2016 Nov 23.

MRC Laboratory for Molecular Cell Biology Genetics and Genomics Medicine Unit Department of Genetics, Evolution and Environment Institute of Child Health University College London Gower Street London WC1E 6BT UK.

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http://dx.doi.org/10.1002/mgg3.263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241206PMC
January 2017

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

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

A Novel MAPT Mutation Causing Corticobasal Syndrome Led by Progressive Apraxia of Speech.

J Alzheimers Dis 2015 ;48(4):923-6

Dementia Research Centre, Department of Neurodegenerative Disease, London, UK.

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http://dx.doi.org/10.3233/JAD-150477DOI Listing
August 2016

Mutation of TBCK causes a rare recessive developmental disorder.

Neurol Genet 2016 Jun 24;2(3):e76. Epub 2016 May 24.

Department of Molecular Neuroscience (R.J.G., J.B.), Institute of Neurology; MRC Laboratory for Molecular Cell Biology (R.B., S.E.M.), University College London; Manchester Centre for Genomic Medicine (D.D.), University of Manchester and Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust; Royal Preston Hospital (C.d.G.), Genetics and Genomics Medicine Programme (S.E.M.), UCL Institute of Child Health and Department of Genetics, Evolution and Environment, University College London, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881620PMC
June 2016

RARS2 mutations in a sibship with infantile spasms.

Epilepsia 2016 May 8;57(5):e97-e102. Epub 2016 Apr 8.

Molecular Neurosciences, Developmental Neurosciences Programme, UCL-Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1111/epi.13358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864753PMC
May 2016

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

J Neurosci Res 2016 Apr 13;94(4):339-47. Epub 2016 Jan 13.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/jnr.23710DOI Listing
April 2016

Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene.

Neurobiol Aging 2016 Apr 30;40:191.e1-191.e8. Epub 2015 Dec 30.

CNC-Center for Neuroscience and Cell Biology, Neurogenetics Department, University of Coimbra, Portugal; Neurology Department, Coimbra University Hospital, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.12.015DOI Listing
April 2016

The clinical syndrome of dystonia with anarthria/aphonia.

Parkinsonism Relat Disord 2016 Mar 28;24:20-7. Epub 2016 Jan 28.

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2016.01.022DOI Listing
March 2016

The age factor in Alzheimer's disease.

Genome Med 2015 Oct 20;7:106. Epub 2015 Oct 20.

Department of Molecular Neuroscience, Institute of Neurology, University College London, 1 Wakefield Street, London, WC1N 1PJ, UK.

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http://dx.doi.org/10.1186/s13073-015-0232-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617238PMC
October 2015

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.

Neurol Genet 2015 Jun 18;1(1):e9. Epub 2015 Jun 18.

Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06 UMR S 1127 (S.L., F.C.-D., C.C., A.N., A.B.), Paris, France; Centre d'Investigation Clinique Pitié Neurosciences CIC-1422 (F.C.-D.); AP-HP, Hôpital de la Salpêtrière (A.B.), Department of Genetics and Cytogenetics, Paris, France; Department of Molecular Neuroscience (J.B., L.D., R.G., M.F., N.W., J.H.), UCL Institute of Neurology, London, United Kingdom; Laboratory of Neurogenetics (E.M., M.F., A.S.), National Institute on Aging, Bethesda, MD; Hertie Institute for Clinical Brain Research (P.H., T.G.), University of Tübingen and DZNE (P.H., T.G.), German Center for Neurodegenerative Diseases, Tübingen, Germany; and Institut des Maladies Neurodégénératives (F.T.), Université de Bordeaux et CHU de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1212/NXG.0000000000000009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821081PMC
June 2015

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

Mov Disord 2015 May 27;30(6):828-33. Epub 2014 Dec 27.

Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.26129DOI Listing
May 2015

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

Am J Hum Genet 2015 Mar 26;96(3):474-9. Epub 2015 Feb 26.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375449PMC
March 2015

SnapShot: Genetics of ALS and FTD.

Cell 2015 Feb;160(4):798-798.e1

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 1PJ, UK.

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http://dx.doi.org/10.1016/j.cell.2015.01.052DOI Listing
February 2015

SnapShot: Genetics of Parkinson's disease.

Cell 2015 Jan;160(3):570-570.e1

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 1PJ, UK.

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http://dx.doi.org/10.1016/j.cell.2015.01.019DOI Listing
January 2015

Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease.

Curr Genet Med Rep 2015;3:19-25

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG UK ; Clinical Neurochemistry Laboratory, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg, Mölndal, Sweden.

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http://dx.doi.org/10.1007/s40142-014-0062-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317514PMC
January 2015

Nonsense mutation in PRNP associated with clinical Alzheimer's disease.

Neurobiol Aging 2014 Nov 27;35(11):2656.e13-2656.e16. Epub 2014 May 27.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4175176PMC
November 2014

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

Neurobiol Aging 2014 Oct 18;35(10):2419.e23-2419.e25. Epub 2014 Apr 18.

Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S1127, Centre de Recherche de l'Institut du Cerveau et de la Moelle, Paris, France.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208293PMC
October 2014

Genetics of Alzheimer's disease.

Neurotherapeutics 2014 Oct;11(4):732-7

Department of Molecular Neuroscience, Institute of Neurology, UCL, 1 Wakefield Street, London, WC1N 1PJ, UK,

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http://dx.doi.org/10.1007/s13311-014-0295-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362699PMC
October 2014

Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.

Hum Mol Genet 2014 Sep 2;23(R1):R47-53. Epub 2014 May 2.

Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/hmg/ddu203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170717PMC
September 2014

Mutant ADA2 in vasculopathies.

N Engl J Med 2014 07;371(5):478-80

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http://dx.doi.org/10.1056/NEJMc1405506DOI Listing
July 2014

Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family.

Neurobiol Aging 2013 Dec 17;34(12):2890.e1-5. Epub 2013 Jul 17.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898264PMC
December 2013

A paired RNAi and RabGAP overexpression screen identifies Rab11 as a regulator of β-amyloid production.

Cell Rep 2013 Dec;5(6):1536-51

Systems and Cell Biology of Neurodegeneration, University of Zurich, Wagistrasse 12, 8952 Schlieren, Switzerland; Division of Psychiatry Research, University of Zurich, Wagistrasse 12, 8952 Schlieren, Switzerland; Graduate Program of the Zurich Neuroscience Center, University of Zurich, Wagistrasse 12, 8952 Schlieren, Switzerland; Graduate Program of the Zurich Center for Integrative Human Physiology, University of Zurich, Wagistrasse 12, 8952 Schlieren, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2013.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004174PMC
December 2013

CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.

Eur J Paediatr Neurol 2013 Nov 2;17(6):657-60. Epub 2013 Jun 2.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.ejpn.2013.04.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3847240PMC
November 2013

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

JAMA Neurol 2013 Nov;70(11):1403-10

INSERM, UMR_S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Hôpital de la Salpêtrière, F-75013, Paris, France2Université Pierre Marie Curie-Paris 06, UMR_S975, F-75013, Paris, France3Centre national de la recherche scientifique, UMR 7225, F-75013, Paris, France4AP-HP, Hôpital de la Pitié-Salpêtrière, Centre de Référence des Démences Rares, Paris, France5AP-HP, Hôpital de la Pitié-Salpêtrière, Département des maladies du système nerveux, Paris, France.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamaneurol.2013.3849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199096PMC
November 2013

SnapShot: genetics of Alzheimer's disease.

Cell 2013 Nov;155(4):968-968.e1

Reta Lilla Weston Institute, University College London, London WC1N 1PJ, UK.

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http://dx.doi.org/10.1016/j.cell.2013.10.037DOI Listing
November 2013

TREM2 and neurodegenerative disease.

N Engl J Med 2013 10;369(16):1569-70

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http://dx.doi.org/10.1056/NEJMc1306509DOI Listing
October 2013

A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

J Neurol Sci 2013 Sep 28;332(1-2):141-4. Epub 2013 Jun 28.

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

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http://dx.doi.org/10.1016/j.jns.2013.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750216PMC
September 2013

Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort.

Neurobiol Aging 2012 Jul 4;33(7):1481.e7-12. Epub 2012 Jan 4.

Institute of Neurology, Clinical Center of Serbia, Belgrade, Serbia.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.12.007DOI Listing
July 2012

Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice.

PLoS One 2012 15;7(2):e31152. Epub 2012 Feb 15.

Neuroscience and Physiology, State University of New York Upstate Medical University, Syracuse, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0031152PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3280280PMC
June 2012

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

Hum Mol Genet 2012 Jun 2;21(12):2646-50. Epub 2012 Mar 2.

Department of Molecular Neuroscience, Institute of Neurology, UCL, London, UK.

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http://dx.doi.org/10.1093/hmg/dds089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3363329PMC
June 2012

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease.

Nat Rev Neurosci 2012 Jun 20;13(7):453-64. Epub 2012 Jun 20.

Reta Lilla Weston Laboratories and Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.

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http://www.nature.com/articles/nrn3271
Publisher Site
http://dx.doi.org/10.1038/nrn3271DOI Listing
June 2012

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease.

J Alzheimers Dis 2012 ;28(2):377-87

MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.3233/JAD-2011-110824DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118466PMC
May 2012

Screening for VPS35 mutations in Parkinson's disease.

Neurobiol Aging 2012 Apr 7;33(4):838.e1-5. Epub 2011 Dec 7.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.10.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3629567PMC
April 2012

Complement receptor 1 (CR1) and Alzheimer's disease.

Immunobiology 2012 Feb 23;217(2):244-50. Epub 2011 Jul 23.

Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1016/j.imbio.2011.07.017DOI Listing
February 2012

[The chemokines and their receptors: characteristics and physiological functions].

Acta Med Port 2011 Dec 31;24 Suppl 4:967-76. Epub 2011 Dec 31.

Centro de Patogénese Molecular, Unidade dos Retrovirus e Infecções Associadas, Faculdade de Farmácia, Universidade de Lisboa, Lisboa, Portugal.

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December 2011

Clusterin as an Alzheimer biomarker.

Arch Neurol 2011 Nov;68(11):1459-60

Departments of Molecular Neuroscience and Clinical Neuroscience, Reta Lila Weston Research Laboratories, Institute of Neurology, University College London, Queen Square House, Ninth Floor, Queen Square, London WC1N3BG, England.

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http://dx.doi.org/10.1001/archneurol.2011.1000DOI Listing
November 2011

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Neuron 2011 Oct 21;72(2):257-68. Epub 2011 Sep 21.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200438PMC
October 2011