Peter Heutink

Peter Heutink

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Peter Heutink

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

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

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

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

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

Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts.

Neurol Genet 2019 Aug 9;5(4):e348. Epub 2019 Jul 9.

Laboratory of Neurogenetics (H.I., C.B., H.L.L., F.F., D.G.H., A.B.S., M.A.N.), National Institute on Aging, National Institutes of Health, Bethesda; Data Tecnica International (H.I., M.A.N.), Glen Echo, MD; Precision Neurology Program (G.L., C.R.S.), Harvard Medical School, Brigham and Women's Hospital; Neurogenomics Laboratory (G.L., C.R.S.), Harvard Medical School, Brigham and Women's Hospital; Ann Romney Center for Neurologic Diseases (G.L., C.R.S.), Brigham and Women's Hospital, Boston, MA; The Norwegian Centre for Movement Disorders (J.M.-G., G.A.), Stavanger University Hospital; Department of Chemistry (J.M.-G., G.A.), Bioscience and Environmental Engineering, University of Stavanger, Norway; Assistance-Publique Hôpitaux de Paris (J.-C.C.), ICM, INSERM UMRS 1127, CNRS 7225, ICM, Department of Neurology and CIC Neurosciences, Pitié-Salpêtrière Hospital, Paris, France; Department of Neurology (L.P., M.T.), Oslo University Hospital, Norway; Department of Neurology (M.N., B.R.B., B.P.W.), Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands; Michael J Fox Foundation (S.J.H.), New York; Translational Genome Sciences (K.-D.H.N, K.E.), Biogen, Cambridge, MA; Department of Neurology University of Pennsylvania (J.R.), Philadelphia, PA; Department of Biostatistics and Computational Biology (S.E.), University of Rochester, NY; Department of Computer Science (F.F.), University of Illinois Urbana-Champaign; Department of Neurology (P.A.), Center for Health + Technology, University of Rochester, NY; Department of Clinical Neurosciences (K.M.S., R.W.), University of Cambridge, John van Geest Centre for Brain Repair, UK; Department of Pathology and Laboratory Medicine (V.M.V.D.), Center for Neurodegenerative Disease Research, Parelman School of Medicine at the University of Pennsylvania, Philadelphia; Genetics and Pharmacogenomics (A.G.D.-W.), Merck Research Laboratory, Boston, MA; Statistical Genetics (A.G.D.-W.), Biogen, Cambridge, MA; Institut du cerveau et de la moelle épinière ICM (A.B., F.D.); Sorbonne Université SU (A.B.); INSERM UMR (A.B.), Paris, France; Department of Neurology (G.A.), Stavanger University Hospital, Norway; Preventive Neurology Unit (A.J.N.), Wolfson Institute of Preventive Medicine, Queen Mary University of London; Department of Molecular Neuroscience (A.J.N.), UCL Institute of Neurology, London, UK; Department of Neurology (O.-B.T.), Haukeland University Hospital; University of Bergen (O.-B.T.), Bergen, Norway; Department of Neurology (J.R.E.), Nottingham University NHS Trust, UK; Centre for Clinical Brain Sciences (D.P.B.), University of Edinburgh; Anne Rowling Regenerative Neurology Clinic (D.P.B.), University of Edinburgh; Usher Institute of Population Health Sciences and Informatics (D.P.B.), University of Edinburgh, Scotland; Department of Medical and Molecular Genetics (C.E.W.), Indiana University, Indianapolis; Department of Neurology (D.K.S.), Beth Israel Deaconess Medical Center; Harvard Medical School (D.K.S.), Boston; Voyager Therapeutics (B.R.), Cambridge, MA; Department of Neurology (B.R.), University of Rochester School of Medicine, NY; Institute of Clinical Medicine (M.T.), University of Oslo, Norway; German Center for Neurodegenerative Diseases-Tubingen (P.H.); HIH Tuebingen (P.H.), Germany; Department of Psychiatry (D.W.), University of Pennsylvania School of Medicine; Department of Veterans Affairs (D.W.), Philadelphia, PA; and Department of Clinical Neurosciences (R.A.B., C.H.W.-G.), University of Cambridge, UK; Department of Neurology (J.J.V.H.), Leiden University Medical Center, The Netherlands.

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http://dx.doi.org/10.1212/NXG.0000000000000348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659137PMC
August 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

HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype.

Mov Disord 2018 08 25;33(8):1354-1358. Epub 2018 Aug 25.

German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1002/mds.27442DOI Listing
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 J 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

Establishing the role of rare coding variants in known Parkinson's disease risk loci.

Neurobiol Aging 2017 11 2;59:220.e11-220.e18. Epub 2017 Aug 2.

Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.07.009DOI Listing
November 2017

FADS2 Genetic Variance in Combination with Fatty Acid Intake Might Alter Composition of the Fatty Acids in Brain.

PLoS One 2013 27;8(6):e68000. Epub 2013 Jun 27.

Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands ; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Neuroscience Campus Amsterdam, VU University Amsterdam, Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0068000PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3694926PMC
October 2017

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia.

Neurodegener Dis 2017 20;17(2-3):83-88. Epub 2016 Oct 20.

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1159/000448896DOI Listing
September 2017

Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohorts.

Lancet Neurol 2017 08 16;16(8):620-629. Epub 2017 Jun 16.

Neurogenomics Laboratory and Parkinson Personalized Medicine Program of Harvard Medical School and Brigham and Women's Hospital, Boston, MA, USA; Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital, Boston, MA, USA; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA; Biomarkers Program, Harvard NeuroDiscovery Center, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(17)30122-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5761650PMC
August 2017

FANTOM5 CAGE profiles of human and mouse samples.

Authors:
Shuhei Noguchi Takahiro Arakawa Shiro Fukuda Masaaki Furuno Akira Hasegawa Fumi Hori Sachi Ishikawa-Kato Kaoru Kaida Ai Kaiho Mutsumi Kanamori-Katayama Tsugumi Kawashima Miki Kojima Atsutaka Kubosaki Ri-Ichiroh Manabe Mitsuyoshi Murata Sayaka Nagao-Sato Kenichi Nakazato Noriko Ninomiya Hiromi Nishiyori-Sueki Shohei Noma Eri Saijyo Akiko Saka Mizuho Sakai Christophe Simon Naoko Suzuki Michihira Tagami Shoko Watanabe Shigehiro Yoshida Peter Arner Richard A Axton Magda Babina J Kenneth Baillie Timothy C Barnett Anthony G Beckhouse Antje Blumenthal Beatrice Bodega Alessandro Bonetti James Briggs Frank Brombacher Ailsa J Carlisle Hans C Clevers Carrie A Davis Michael Detmar Taeko Dohi Albert S B Edge Matthias Edinger Anna Ehrlund Karl Ekwall Mitsuhiro Endoh Hideki Enomoto Afsaneh Eslami Michela Fagiolini Lynsey Fairbairn Mary C Farach-Carson Geoffrey J Faulkner Carmelo Ferrai Malcolm E Fisher Lesley M Forrester Rie Fujita Jun-Ichi Furusawa Teunis B Geijtenbeek Thomas Gingeras Daniel Goldowitz Sven Guhl Reto Guler Stefano Gustincich Thomas J Ha Masahide Hamaguchi Mitsuko Hara Yuki Hasegawa Meenhard Herlyn Peter Heutink Kelly J Hitchens David A Hume Tomokatsu Ikawa Yuri Ishizu Chieko Kai Hiroshi Kawamoto Yuki I Kawamura Judith S Kempfle Tony J Kenna Juha Kere Levon M Khachigian Toshio Kitamura Sarah Klein S Peter Klinken Alan J Knox Soichi Kojima Haruhiko Koseki Shigeo Koyasu Weonju Lee Andreas Lennartsson Alan Mackay-Sim Niklas Mejhert Yosuke Mizuno Hiromasa Morikawa Mitsuru Morimoto Kazuyo Moro Kelly J Morris Hozumi Motohashi Christine L Mummery Yutaka Nakachi Fumio Nakahara Toshiyuki Nakamura Yukio Nakamura Tadasuke Nozaki Soichi Ogishima Naganari Ohkura Hiroshi Ohno Mitsuhiro Ohshima Mariko Okada-Hatakeyama Yasushi Okazaki Valerio Orlando Dmitry A Ovchinnikov Robert Passier Margaret Patrikakis Ana Pombo Swati Pradhan-Bhatt Xian-Yang Qin Michael Rehli Patrizia Rizzu Sugata Roy Antti Sajantila Shimon Sakaguchi Hiroki Sato Hironori Satoh Suzana Savvi Alka Saxena Christian Schmidl Claudio Schneider Gundula G Schulze-Tanzil Anita Schwegmann Guojun Sheng Jay W Shin Daisuke Sugiyama Takaaki Sugiyama Kim M Summers Naoko Takahashi Jun Takai Hiroshi Tanaka Hideki Tatsukawa Andru Tomoiu Hiroo Toyoda Marc van de Wetering Linda M van den Berg Roberto Verardo Dipti Vijayan Christine A Wells Louise N Winteringham Ernst Wolvetang Yoko Yamaguchi Masayuki Yamamoto Chiyo Yanagi-Mizuochi Misako Yoneda Yohei Yonekura Peter G Zhang Silvia Zucchelli Imad Abugessaisa Erik Arner Jayson Harshbarger Atsushi Kondo Timo Lassmann Marina Lizio Serkan Sahin Thierry Sengstag Jessica Severin Hisashi Shimoji Masanori Suzuki Harukazu Suzuki Jun Kawai Naoto Kondo Masayoshi Itoh Carsten O Daub Takeya Kasukawa Hideya Kawaji Piero Carninci Alistair R R Forrest Yoshihide Hayashizaki

Sci Data 2017 08 29;4:170112. Epub 2017 Aug 29.

RIKEN Omics Science Center, Yokohama, Kanagawa 230-0045, Japan.

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http://dx.doi.org/10.1038/sdata.2017.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574368PMC
August 2017

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases.

JAMA Neurol 2017 07;74(7):780-792

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany30Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1001/jamaneurol.2017.0469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710535PMC
July 2017

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Am J Hum Genet 2017 Jul;101(1):87-103

Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Genetics of Cognitive Dysfunction Laboratory, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501871PMC
July 2017

Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia.

Brain 2017 May;140(5):1437-1446

Department of Complex Trait Genetics, VU University, Center for Neurogenomics and Cognitive Research, Amsterdam, 1081 HV, The Netherlands.

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http://dx.doi.org/10.1093/brain/awx066DOI Listing
May 2017

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.

Parkinsonism Relat Disord 2016 08 3;29:117-20. Epub 2016 Mar 3.

Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Behavioral Neurology and Movement Disorders Unit, Capa, 34390 Istanbul, Turkey; Dept. of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany.

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http://dx.doi.org/10.1016/j.parkreldis.2016.03.001DOI Listing
August 2016

Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson's Disease.

PLoS One 2015 18;10(6):e0128651. Epub 2015 Jun 18.

Department of Anatomy and Neurosciences, section Quantitative Morphology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0128651PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4472235PMC
April 2016

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.

Tremor Other Hyperkinet Mov (N Y) 2016 16;6:363. Epub 2016 Mar 16.

Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.7916/D81G0M12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811020PMC
April 2016

Is the MC1R variant p.R160W associated with Parkinson's?

Ann Neurol 2016 Jan 12;79(1):159-61. Epub 2015 Dec 12.

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

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http://dx.doi.org/10.1002/ana.24527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738170PMC
January 2016

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.

Neurobiol Aging 2016 Jan 30;37:208.e11-208.e17. Epub 2015 Sep 30.

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; Neurodegeneration, German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.09.016DOI Listing
January 2016

Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism.

Genome Biol Evol 2015 Nov 11;7(12):3239-48. Epub 2015 Nov 11.

Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal Instituto de Patologia e Imunologia Molecular da Universidade do Porto-IPATIMUP, Portugal.

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http://dx.doi.org/10.1093/gbe/evv214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700947PMC
November 2015

Variation in PARK10 is not associated with risk and age at onset of Parkinson's disease in large clinical cohorts.

Neurobiol Aging 2015 Oct 10;36(10):2907.e13-7. Epub 2015 Jul 10.

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; Genome Biology of Neurodegenerative Diseases, German Center for Neurodegenerative diseases (DZNE)-Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.07.008DOI Listing
October 2015

CHCHD2 and Parkinson's disease.

Lancet Neurol 2015 Jul;14(7):678-9

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Silcherstraße 5, 70276, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(15)00094-0DOI Listing
July 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

Polygenic risk of Parkinson disease is correlated with disease age at onset.

Ann Neurol 2015 Apr 13;77(4):582-91. Epub 2015 Mar 13.

Institute of Psychological Medicine and Clinical Neurosciences, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff University School of Medicine, Cardiff, United Kingdom.

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http://dx.doi.org/10.1002/ana.24335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737223PMC
April 2015

Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells.

Hum Mol Genet 2015 Jan 20;24(1):100-17. Epub 2014 Aug 20.

Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, 4710-057 Braga ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães and

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http://dx.doi.org/10.1093/hmg/ddu422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4262494PMC
January 2015

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

Authors:
Dongmei Yu Carol A Mathews Jeremiah M Scharf Benjamin M Neale Lea K Davis Eric R Gamazon Eske M Derks Patrick Evans Christopher K Edlund Jacquelyn Crane Jesen A Fagerness Lisa Osiecki Patience Gallagher Gloria Gerber Stephen Haddad Cornelia Illmann Lauren M McGrath Catherine Mayerfeld Sampath Arepalli Cristina Barlassina Cathy L Barr Laura Bellodi Fortu Benarroch Gabriel Bedoya Berrió O Joseph Bienvenu Donald W Black Michael H Bloch Helena Brentani Ruth D Bruun Cathy L Budman Beatriz Camarena Desmond D Campbell Carolina Cappi Julio C Cardona Silgado Maria C Cavallini Denise A Chavira Sylvain Chouinard Edwin H Cook M R Cookson Vladimir Coric Bernadette Cullen Daniele Cusi Richard Delorme Damiaan Denys Yves Dion Valsama Eapen Karin Egberts Peter Falkai Thomas Fernandez Eduardo Fournier Helena Garrido Daniel Geller Donald L Gilbert Simon L Girard Hans J Grabe Marco A Grados Benjamin D Greenberg Varda Gross-Tsur Edna Grünblatt John Hardy Gary A Heiman Sian M J Hemmings Luis D Herrera Dianne M Hezel Pieter J Hoekstra Joseph Jankovic James L Kennedy Robert A King Anuar I Konkashbaev Barbara Kremeyer Roger Kurlan Nuria Lanzagorta Marion Leboyer James F Leckman Leonhard Lennertz Chunyu Liu Christine Lochner Thomas L Lowe Sara Lupoli Fabio Macciardi Wolfgang Maier Paolo Manunta Maurizio Marconi James T McCracken Sandra C Mesa Restrepo Rainald Moessner Priya Moorjani Jubel Morgan Heike Muller Dennis L Murphy Allan L Naarden Erika Nurmi William Cornejo Ochoa Roel A Ophoff Andrew J Pakstis Michele T Pato Carlos N Pato John Piacentini Christopher Pittenger Yehuda Pollak Scott L Rauch Tobias Renner Victor I Reus Margaret A Richter Mark A Riddle Mary M Robertson Roxana Romero Maria C Rosário David Rosenberg Stephan Ruhrmann Chiara Sabatti Erika Salvi Aline S Sampaio Jack Samuels Paul Sandor Susan K Service Brooke Sheppard Harvey S Singer Jan H Smit Dan J Stein Eric Strengman Jay A Tischfield Maurizio Turiel Ana V Valencia Duarte Homero Vallada Jeremy Veenstra-VanderWeele Susanne Walitza Ying Wang Mike Weale Robert Weiss Jens R Wendland Herman G M Westenberg Yin Yao Shugart Ana G Hounie Euripedes C Miguel Humberto Nicolini Michael Wagner Andres Ruiz-Linares Danielle C Cath William McMahon Danielle Posthuma Ben A Oostra Gerald Nestadt Guy A Rouleau Shaun Purcell Michael A Jenike Peter Heutink Gregory L Hanna David V Conti Paul D Arnold Nelson B Freimer S Evelyn Stewart James A Knowles Nancy J Cox David L Pauls

Am J Psychiatry 2015 Jan 31;172(1):82-93. Epub 2014 Oct 31.

From the Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston; the Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Mass.; the Department of Psychiatry, University of California, San Francisco; the Department of Neurology, Massachusetts General Hospital, Boston; the Division of Cognitive and Behavioral Neurology, Brigham and Women's Hospital, Boston; the Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston; Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago; the Department of Psychiatry, Academic Medical Center, University of Amsterdam, Amsterdam; the Department of Preventive Medicine, Division of Biostatistics, Keck School of Medicine, University of Southern California, Los Angeles; the Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Md.; the Genomic and Bioinformatic Unit, Filarete Foundation, Milan, Italy; the Department of Health Sciences, Graduate School of Nephrology, University of Milan, Milan; the Toronto Western Research Institute, University Health Network, Toronto; Hospital for Sick Children, Toronto; Università Vita-Salute San Raffaele, Milan; the Herman Dana Division of Child and Adolescent Psychiatry, Hadassah-Hebrew University Medical Center, Jerusalem; Universidad de Antioquia, Universidad Pontificia Bolivariana, Medellín, Colombia; the Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore; the Department of Psychiatry, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City; the Child Study Center and the Department of Psychiatry, Yale University School of Medicine, New Haven, Conn.; the Department of Psychiatry, University of São Paulo Medical School, São Paulo, Brazil; North Shore-Long Island Jewish Medical Center and North Shore-Lo

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http://dx.doi.org/10.1176/appi.ajp.2014.13101306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4282594PMC
January 2015

C9orf72; abnormal RNA expression is the key.

Exp Neurol 2014 Dec 27;262 Pt B:102-10. Epub 2014 May 27.

Genome Biology of Neurodegenerative Diseases, German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Paul-Ehrlich-Straße 15, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1016/j.expneurol.2014.05.020DOI Listing
December 2014

Population and genomic lessons from genetic analysis of two Indian populations.

Hum Genet 2014 Oct 1;133(10):1273-87. Epub 2014 Jul 1.

Department of Genetics, University of Delhi South Campus, New Delhi, 110 021, India.

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http://dx.doi.org/10.1007/s00439-014-1462-0DOI Listing
October 2014

Brain-specific noncoding RNAs are likely to originate in repeats and may play a role in up-regulating genes in cis.

Int J Biochem Cell Biol 2014 Sep 30;54:331-7. Epub 2014 Jun 30.

Genomics Core Facility, Biomedical Research Centre, Guy's and St Thomas' Trust, 7th Floor Tower Wing, Guy's Hospital, London SE1 9RT, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2014.06.014DOI Listing
September 2014

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.

Authors:
Lauren M McGrath Dongmei Yu Christian Marshall Lea K Davis Bhooma Thiruvahindrapuram Bingbin Li Carolina Cappi Gloria Gerber Aaron Wolf Frederick A Schroeder Lisa Osiecki Colm O'Dushlaine Andrew Kirby Cornelia Illmann Stephen Haddad Patience Gallagher Jesen A Fagerness Cathy L Barr Laura Bellodi Fortu Benarroch O Joseph Bienvenu Donald W Black Michael H Bloch Ruth D Bruun Cathy L Budman Beatriz Camarena Danielle C Cath Maria C Cavallini Sylvain Chouinard Vladimir Coric Bernadette Cullen Richard Delorme Damiaan Denys Eske M Derks Yves Dion Maria C Rosário Valsama Eapen Patrick Evans Peter Falkai Thomas V Fernandez Helena Garrido Daniel Geller Hans J Grabe Marco A Grados Benjamin D Greenberg Varda Gross-Tsur Edna Grünblatt Gary A Heiman Sian M J Hemmings Luis D Herrera Ana G Hounie Joseph Jankovic James L Kennedy Robert A King Roger Kurlan Nuria Lanzagorta Marion Leboyer James F Leckman Leonhard Lennertz Christine Lochner Thomas L Lowe Gholson J Lyon Fabio Macciardi Wolfgang Maier James T McCracken William McMahon Dennis L Murphy Allan L Naarden Benjamin M Neale Erika Nurmi Andrew J Pakstis Michele T Pato Carlos N Pato John Piacentini Christopher Pittenger Yehuda Pollak Victor I Reus Margaret A Richter Mark Riddle Mary M Robertson David Rosenberg Guy A Rouleau Stephan Ruhrmann Aline S Sampaio Jack Samuels Paul Sandor Brooke Sheppard Harvey S Singer Jan H Smit Dan J Stein Jay A Tischfield Homero Vallada Jeremy Veenstra-VanderWeele Susanne Walitza Ying Wang Jens R Wendland Yin Yao Shugart Euripedes C Miguel Humberto Nicolini Ben A Oostra Rainald Moessner Michael Wagner Andres Ruiz-Linares Peter Heutink Gerald Nestadt Nelson Freimer Tracey Petryshen Danielle Posthuma Michael A Jenike Nancy J Cox Gregory L Hanna Helena Brentani Stephen W Scherer Paul D Arnold S Evelyn Stewart Carol A Mathews James A Knowles Edwin H Cook David L Pauls Kai Wang Jeremiah M Scharf

J Am Acad Child Adolesc Psychiatry 2014 Aug 24;53(8):910-9. Epub 2014 Jun 24.

Massachusetts General Hospital, Boston; Brigham and Womens Hospital, Boston; Harvard-MIT Broad Institute, Boston. Electronic address:

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http://dx.doi.org/10.1016/j.jaac.2014.04.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4218748PMC
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 promoter-level mammalian expression atlas.

Authors:
Alistair R R Forrest Hideya Kawaji Michael Rehli J Kenneth Baillie Michiel J L de Hoon Vanja Haberle Timo Lassmann Ivan V Kulakovskiy Marina Lizio Masayoshi Itoh Robin Andersson Christopher J Mungall Terrence F Meehan Sebastian Schmeier Nicolas Bertin Mette Jørgensen Emmanuel Dimont Erik Arner Christian Schmidl Ulf Schaefer Yulia A Medvedeva Charles Plessy Morana Vitezic Jessica Severin Colin A Semple Yuri Ishizu Robert S Young Margherita Francescatto Intikhab Alam Davide Albanese Gabriel M Altschuler Takahiro Arakawa John A C Archer Peter Arner Magda Babina Sarah Rennie Piotr J Balwierz Anthony G Beckhouse Swati Pradhan-Bhatt Judith A Blake Antje Blumenthal Beatrice Bodega Alessandro Bonetti James Briggs Frank Brombacher A Maxwell Burroughs Andrea Califano Carlo V Cannistraci Daniel Carbajo Yun Chen Marco Chierici Yari Ciani Hans C Clevers Emiliano Dalla Carrie A Davis Michael Detmar Alexander D Diehl Taeko Dohi Finn Drabløs Albert S B Edge Matthias Edinger Karl Ekwall Mitsuhiro Endoh Hideki Enomoto Michela Fagiolini Lynsey Fairbairn Hai Fang Mary C Farach-Carson Geoffrey J Faulkner Alexander V Favorov Malcolm E Fisher Martin C Frith Rie Fujita Shiro Fukuda Cesare Furlanello Masaaki Furino Jun-ichi Furusawa Teunis B Geijtenbeek Andrew P Gibson Thomas Gingeras Daniel Goldowitz Julian Gough Sven Guhl Reto Guler Stefano Gustincich Thomas J Ha Masahide Hamaguchi Mitsuko Hara Matthias Harbers Jayson Harshbarger Akira Hasegawa Yuki Hasegawa Takehiro Hashimoto Meenhard Herlyn Kelly J Hitchens Shannan J Ho Sui Oliver M Hofmann Ilka Hoof Furni Hori Lukasz Huminiecki Kei Iida Tomokatsu Ikawa Boris R Jankovic Hui Jia Anagha Joshi Giuseppe Jurman Bogumil Kaczkowski Chieko Kai Kaoru Kaida Ai Kaiho Kazuhiro Kajiyama Mutsumi Kanamori-Katayama Artem S Kasianov Takeya Kasukawa Shintaro Katayama Sachi Kato Shuji Kawaguchi Hiroshi Kawamoto Yuki I Kawamura Tsugumi Kawashima Judith S Kempfle Tony J Kenna Juha Kere Levon M Khachigian Toshio Kitamura S Peter Klinken Alan J Knox Miki Kojima Soichi Kojima Naoto Kondo Haruhiko Koseki Shigeo Koyasu Sarah Krampitz Atsutaka Kubosaki Andrew T Kwon Jeroen F J Laros Weonju Lee Andreas Lennartsson Kang Li Berit Lilje Leonard Lipovich Alan Mackay-Sim Ri-ichiroh Manabe Jessica C Mar Benoit Marchand Anthony Mathelier Niklas Mejhert Alison Meynert Yosuke Mizuno David A de Lima Morais Hiromasa Morikawa Mitsuru Morimoto Kazuyo Moro Efthymios Motakis Hozumi Motohashi Christine L Mummery Mitsuyoshi Murata Sayaka Nagao-Sato Yutaka Nakachi Fumio Nakahara Toshiyuki Nakamura Yukio Nakamura Kenichi Nakazato Erik van Nimwegen Noriko Ninomiya Hiromi Nishiyori Shohei Noma Shohei Noma Tadasuke Noazaki Soichi Ogishima Naganari Ohkura Hiroko Ohimiya Hiroshi Ohno Mitsuhiro Ohshima Mariko Okada-Hatakeyama Yasushi Okazaki Valerio Orlando Dmitry A Ovchinnikov Arnab Pain Robert Passier Margaret Patrikakis Helena Persson Silvano Piazza James G D Prendergast Owen J L Rackham Jordan A Ramilowski Mamoon Rashid Timothy Ravasi Patrizia Rizzu Marco Roncador Sugata Roy Morten B Rye Eri Saijyo Antti Sajantila Akiko Saka Shimon Sakaguchi Mizuho Sakai Hiroki Sato Suzana Savvi Alka Saxena Claudio Schneider Erik A Schultes Gundula G Schulze-Tanzil Anita Schwegmann Thierry Sengstag Guojun Sheng Hisashi Shimoji Yishai Shimoni Jay W Shin Christophe Simon Daisuke Sugiyama Takaai Sugiyama Masanori Suzuki Naoko Suzuki Rolf K Swoboda Peter A C 't Hoen Michihira Tagami Naoko Takahashi Jun Takai Hiroshi Tanaka Hideki Tatsukawa Zuotian Tatum Mark Thompson Hiroo Toyodo Tetsuro Toyoda Elvind Valen Marc van de Wetering Linda M van den Berg Roberto Verado Dipti Vijayan Ilya E Vorontsov Wyeth W Wasserman Shoko Watanabe Christine A Wells Louise N Winteringham Ernst Wolvetang Emily J Wood Yoko Yamaguchi Masayuki Yamamoto Misako Yoneda Yohei Yonekura Shigehiro Yoshida Susan E Zabierowski Peter G Zhang Xiaobei Zhao Silvia Zucchelli Kim M Summers Harukazu Suzuki Carsten O Daub Jun Kawai Peter Heutink Winston Hide Tom C Freeman Boris Lenhard Vladimir B Bajic Martin S Taylor Vsevolod J Makeev Albin Sandelin David A Hume Piero Carninci Yoshihide Hayashizaki

Nature 2014 Mar;507(7493):462-70

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http://dx.doi.org/10.1038/nature13182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4529748PMC
March 2014

Accurate prediction of a minimal region around a genetic association signal that contains the causal variant.

Eur J Hum Genet 2014 Feb 5;22(2):238-42. Epub 2013 Jun 5.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895635PMC
February 2014

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.

Authors:
Lea K Davis Dongmei Yu Clare L Keenan Eric R Gamazon Anuar I Konkashbaev Eske M Derks Benjamin M Neale Jian Yang S Hong Lee Patrick Evans Cathy L Barr Laura Bellodi Fortu Benarroch Gabriel Bedoya Berrio Oscar J Bienvenu Michael H Bloch Rianne M Blom Ruth D Bruun Cathy L Budman Beatriz Camarena Desmond Campbell Carolina Cappi Julio C Cardona Silgado Danielle C Cath Maria C Cavallini Denise A Chavira Sylvain Chouinard David V Conti Edwin H Cook Vladimir Coric Bernadette A Cullen Dieter Deforce Richard Delorme Yves Dion Christopher K Edlund Karin Egberts Peter Falkai Thomas V Fernandez Patience J Gallagher Helena Garrido Daniel Geller Simon L Girard Hans J Grabe Marco A Grados Benjamin D Greenberg Varda Gross-Tsur Stephen Haddad Gary A Heiman Sian M J Hemmings Ana G Hounie Cornelia Illmann Joseph Jankovic Michael A Jenike James L Kennedy Robert A King Barbara Kremeyer Roger Kurlan Nuria Lanzagorta Marion Leboyer James F Leckman Leonhard Lennertz Chunyu Liu Christine Lochner Thomas L Lowe Fabio Macciardi James T McCracken Lauren M McGrath Sandra C Mesa Restrepo Rainald Moessner Jubel Morgan Heike Muller Dennis L Murphy Allan L Naarden William Cornejo Ochoa Roel A Ophoff Lisa Osiecki Andrew J Pakstis Michele T Pato Carlos N Pato John Piacentini Christopher Pittenger Yehuda Pollak Scott L Rauch Tobias J Renner Victor I Reus Margaret A Richter Mark A Riddle Mary M Robertson Roxana Romero Maria C Rosàrio David Rosenberg Guy A Rouleau Stephan Ruhrmann Andres Ruiz-Linares Aline S Sampaio Jack Samuels Paul Sandor Brooke Sheppard Harvey S Singer Jan H Smit Dan J Stein E Strengman Jay A Tischfield Ana V Valencia Duarte Homero Vallada Filip Van Nieuwerburgh Jeremy Veenstra-Vanderweele Susanne Walitza Ying Wang Jens R Wendland Herman G M Westenberg Yin Yao Shugart Euripedes C Miguel William McMahon Michael Wagner Humberto Nicolini Danielle Posthuma Gregory L Hanna Peter Heutink Damiaan Denys Paul D Arnold Ben A Oostra Gerald Nestadt Nelson B Freimer David L Pauls Naomi R Wray S Evelyn Stewart Carol A Mathews James A Knowles Nancy J Cox Jeremiah M Scharf

PLoS Genet 2013 Oct 24;9(10):e1003864. Epub 2013 Oct 24.

Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1003864DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812053PMC
October 2013

Regional differences in gene expression and promoter usage in aged human brains.

Neurobiol Aging 2013 Jul 19;34(7):1825-36. Epub 2013 Feb 19.

Section Medical Genomics, Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.01.005DOI Listing
July 2013

Cervical dystonia and genetic common variation in the dopamine pathway.

Parkinsonism Relat Disord 2013 Mar 14;19(3):346-9. Epub 2012 Sep 14.

Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.parkreldis.2012.08.016DOI Listing
March 2013

Neurodegeneration: new road leads back to the synapse.

Neuron 2012 Sep;75(6):935-8

Department of Clinical Genetics, Center for Neurogenomics and Cognitive Research-CNCR, Neuroscience Campus Amsterdam-NCA, VU Medical Center, 1081 HV Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.neuron.2012.09.006DOI Listing
September 2012

Catechol-O-methyltransferase Val158Met and the risk of dyskinesias in Parkinson's disease.

Mov Disord 2012 Jan 14;27(1):132-5. Epub 2011 Nov 14.

Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/mds.23805DOI Listing
January 2012

High content screening in neurodegenerative diseases.

J Vis Exp 2012 Jan 6(59):e3452. Epub 2012 Jan 6.

Department of Clinical Genetics, VU University Medical Center.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3369774PMC
January 2012

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

Somatic retrotransposition alters the genetic landscape of the human brain.

Nature 2011 Oct 30;479(7374):534-7. Epub 2011 Oct 30.

Division of Genetics and Genomics, The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Edinburgh EH25 9RG, UK.

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http://dx.doi.org/10.1038/nature10531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224101PMC
October 2011

The complete automation of cell culture: improvements for high-throughput and high-content screening.

J Biomol Screen 2011 Sep 20;16(8):932-9. Epub 2011 Jul 20.

VUMC-Clinical Genetics, Amsterdam, the Netherlands.

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September 2011