Nicholas W Wood

Nicholas W Wood

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Nicholas W Wood

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Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia!

Mov Disord 2019 04;34(4):589-592

Department of Motor Neuroscience and Movement Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.

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http://doi.wiley.com/10.1002/mds.27638
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http://dx.doi.org/10.1002/mds.27638DOI Listing
April 2019

DNA repair in trinucleotide repeat ataxias.

FEBS J 2018 10 10;285(19):3669-3682. Epub 2018 Sep 10.

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

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http://dx.doi.org/10.1111/febs.14644DOI Listing
October 2018

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

Neurology 2018 06 11;90(23):e2059-e2067. Epub 2018 May 11.

From The Dalglish Family 22q Clinic for Adults and Department of Psychiatry (E.B., A.M.F., A.S.B.), Toronto General Research Institute (A.S.B.), and Division of Cardiology, Department of Medicine (A.S.B.), University Health Network, Toronto, Canada; De Hartekamp Groep (E.B.), Centre for People with Intellectual Disability, Haarlem; Department of Nuclear Medicine (E.B., J.B.), Academic Medical Center, Amsterdam, the Netherlands; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute (N.J.B., A.M.F., A.S.B.), Centre for Addiction and Mental Health, Toronto; Institute of Medical Science (N.J.B., M.M., A.E.L., A.S.B.), Division of Neurology, Department of Medicine (C.M., M.M., A.E.L.), and Department of Psychiatry (A.S.B.), University of Toronto; Deer Lodge Movement Disorders Centre (S.U.); Section of Neurology (S.U.), Division of Internal Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg; Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease Research (C.M., A.E.L.), Toronto Western Hospital and University of Toronto, Canada; Department of Molecular Neuroscience (K.Y.M., N.W.W.), UCL Institute of Neurology, London, UK; Department of Neurology (S.K.), Kansai Medical University, Osaka, Japan; Department of Neurology (M.J.B.), University of Virginia School of Medicine, Charlottesville; Medical Genetics Unit (P.P.), Perugia University Hospital, Italy; Department of Neurology (B.D.B.), University of Colorado Anschutz Medical Campus, Aurora; Neurology Section (B.D.B.), VA Eastern Colorado Health Care System, Denver; Cognitive & Movement Disorders Clinic and Hurvitz Brain Sciences Research Program (M.M.), Sunnybrook Health Sciences Centre, Toronto, Canada; Departments of Clinical Neurosciences (Movement Disorders) (B.D.) and Genetics (Neurogenetics) (K.N.), Timone University Hospital (AP-HM), Provence-Alpes-Côte d'Azur; Aix-Marseille University (B.D., K.N.), Marseille; Department of Genetics (Neurogenetics) (P.C., A.J.), Pitié-Salpêtrière University Hospital; Sorbonne University (P.C., A.J.), Paris; Department of Neurosciences (Movement Disorders) (E.M.), Lille University Hospital; Lille University (E.M.); Department of Neurology (Movement Disorders) (T.D.), Pierre Wertheimer University Hospital, Lyon; Marc Jeannerod Center for Cognitive Neurosciences (T.D.), Lyon-1 University; Department of Neurology (Movement Disorders) and Clinical Investigation Center (Clinical and Experimental Neurosciences) (O.C.), Poitiers University Hospital; Department of Neurology (Movement Disorders) (S.D.), Rennes University Hospital; Rennes-1 University (S.D.); Department of Clinical Neurosciences (Movement Disorders) (M.B.), Nice University Hospital, France; Department of Psychiatry (A.M.F.), Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, the Netherlands; Center for Human Genetics (E.V., A.S., A.V.), University Hospital Leuven; Department of Human Genetics (A.S.), KU Leuven, Belgium; Department of Neurology (A.P.), University of Munich, Germany; Scientific and Technological Coordination Unit of the ANLIS Directorate (C.P.), National Administration of Laboratories and Institutes of Health, Argentina; Department of Neurodegenerative Diseases (T.G.), Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (T.G.); Department of Neurology (K.C.), AZ Turnhout, Antwerp, Belgium; Neurology Unit and Stroke Center (F.B.), Hôpital Foch, Suresnes, France; Movement Disorder Division (K.M.), Johns Hopkins University, Baltimore, MD; and Psychological Medicine and Clinical Neurosciences (N.M.W.), MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff University, UK.

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http://dx.doi.org/10.1212/WNL.0000000000005660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993183PMC
June 2018

Stratification of candidate genes for Parkinson's disease using weighted protein-protein interaction network analysis.

BMC Genomics 2018 Jun 13;19(1):452. Epub 2018 Jun 13.

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1B 5EH, UK.

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http://dx.doi.org/10.1186/s12864-018-4804-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6000968PMC
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

loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Ann Clin Transl Neurol 2018 02 22;5(2):216-221. Epub 2018 Jan 22.

Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom.

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http://dx.doi.org/10.1002/acn3.522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817843PMC
February 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

Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to mutations.

Neurol Genet 2017 Oct 22;3(5):e188. Epub 2017 Sep 22.

Department of Molecular Neuroscience (D.S.L., J.H., N.W.W., H.H., H.P.-F.), UCL Institute of Neurology, London, UK; MRC Toxicology Unit (S.H.Y.L., L.M.M.), Leicester, UK; Reta Lila Weston Institute of Neurological Studies (A.J.N.), UCL Institute of Neurology, London, UK; and Neurogenetics Laboratory (H.H.), National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5610041PMC
October 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

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Am J Hum Genet 2017 Jun;100(6):969-977

Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.ajhg.2017.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473715PMC
June 2017

Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A.

Neurol Genet 2016 Oct 16;2(5):e101. Epub 2016 Aug 16.

Department of Molecular Neuroscience (D.S.L., N.W.W., H.H.), UCL Institute of Neurology; and Neurogenetics Laboratory (H.H.), National Hospital for Neurology & Neurosurgery, Queen Square, London.

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http://dx.doi.org/10.1212/NXG.0000000000000101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988466PMC
October 2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Authors:
Wouter van Rheenen Aleksey Shatunov Annelot M Dekker Russell L McLaughlin Frank P Diekstra Sara L Pulit Rick A A van der Spek Urmo Võsa Simone de Jong Matthew R Robinson Jian Yang Isabella Fogh Perry Tc van Doormaal Gijs H P Tazelaar Max Koppers Anna M Blokhuis William Sproviero Ashley R Jones Kevin P Kenna Kristel R van Eijk Oliver Harschnitz Raymond D Schellevis William J Brands Jelena Medic Androniki Menelaou Alice Vajda Nicola Ticozzi Kuang Lin Boris Rogelj Katarina Vrabec Metka Ravnik-Glavač Blaž Koritnik Janez Zidar Lea Leonardis Leja Dolenc Grošelj Stéphanie Millecamps François Salachas Vincent Meininger Mamede de Carvalho Susana Pinto Jesus S Mora Ricardo Rojas-García Meraida Polak Siddharthan Chandran Shuna Colville Robert Swingler Karen E Morrison Pamela J Shaw John Hardy Richard W Orrell Alan Pittman Katie Sidle Pietro Fratta Andrea Malaspina Simon Topp Susanne Petri Susanne Abdulla Carsten Drepper Michael Sendtner Thomas Meyer Roel A Ophoff Kim A Staats Martina Wiedau-Pazos Catherine Lomen-Hoerth Vivianna M Van Deerlin John Q Trojanowski Lauren Elman Leo McCluskey A Nazli Basak Ceren Tunca Hamid Hamzeiy Yesim Parman Thomas Meitinger Peter Lichtner Milena Radivojkov-Blagojevic Christian R Andres Cindy Maurel Gilbert Bensimon Bernhard Landwehrmeyer Alexis Brice Christine A M Payan Safaa Saker-Delye Alexandra Dürr Nicholas W Wood Lukas Tittmann Wolfgang Lieb Andre Franke Marcella Rietschel Sven Cichon Markus M Nöthen Philippe Amouyel Christophe Tzourio Jean-François Dartigues Andre G Uitterlinden Fernando Rivadeneira Karol Estrada Albert Hofman Charles Curtis Hylke M Blauw Anneke J van der Kooi Marianne de Visser An Goris Markus Weber Christopher E Shaw Bradley N Smith Orietta Pansarasa Cristina Cereda Roberto Del Bo Giacomo P Comi Sandra D'Alfonso Cinzia Bertolin Gianni Sorarù Letizia Mazzini Viviana Pensato Cinzia Gellera Cinzia Tiloca Antonia Ratti Andrea Calvo Cristina Moglia Maura Brunetti Simona Arcuti Rosa Capozzo Chiara Zecca Christian Lunetta Silvana Penco Nilo Riva Alessandro Padovani Massimiliano Filosto Bernard Muller Robbert Jan Stuit Ian Blair Katharine Zhang Emily P McCann Jennifer A Fifita Garth A Nicholson Dominic B Rowe Roger Pamphlett Matthew C Kiernan Julian Grosskreutz Otto W Witte Thomas Ringer Tino Prell Beatrice Stubendorff Ingo Kurth Christian A Hübner P Nigel Leigh Federico Casale Adriano Chio Ettore Beghi Elisabetta Pupillo Rosanna Tortelli Giancarlo Logroscino John Powell Albert C Ludolph Jochen H Weishaupt Wim Robberecht Philip Van Damme Lude Franke Tune H Pers Robert H Brown Jonathan D Glass John E Landers Orla Hardiman Peter M Andersen Philippe Corcia Patrick Vourc'h Vincenzo Silani Naomi R Wray Peter M Visscher Paul I W de Bakker Michael A van Es R Jeroen Pasterkamp Cathryn M Lewis Gerome Breen Ammar Al-Chalabi Leonard H van den Berg Jan H Veldink

Nat Genet 2016 09 25;48(9):1043-8. Epub 2016 Jul 25.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/ng.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 2016

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.

J Neurol 2016 Aug 13;263(8):1503-10. Epub 2016 May 13.

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

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http://dx.doi.org/10.1007/s00415-016-8148-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971038PMC
August 2016

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.

Mov Disord 2016 08 19;31(8):1249-51. Epub 2016 Jul 19.

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

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http://dx.doi.org/10.1002/mds.26716DOI Listing
August 2016

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Brain 2016 07 23;139(Pt 7):1904-18. Epub 2016 May 23.

1 Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK 2 Alzheimer's Disease Research Centre, Department of Neurology, Harvard Medical School and Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA

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http://dx.doi.org/10.1093/brain/aww111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939695PMC
July 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

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

ADCY5 mutations are another cause of benign hereditary chorea.

Neurology 2015 Jul 17;85(1):80-8. Epub 2015 Jun 17.

From the Department of Molecular Neuroscience (N.E.M., S.W., J.H., M.R., H.H., N.W.W.) and Sobell Department of Motor Neuroscience and Movement Disorders (R.E., B.B., C.G., M.S., N.Q., K.P.B.), UCL Institute of Neurology, London, UK; IRCCS Istituto Auxologico Italiano (N.E.M.), Department of Neurology and Laboratory of Neuroscience-Department of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano; Dipartimento di Scienze Neurologiche e del Movimento (R.E.), Università di Verona, Italy; Department of Neurology (B.B.), University Hospital Heidelberg; Department of Neurology (C.G.), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; Neurology Clinic (M.S.), Attiko Hospital, University of Athens; and Movement Disorders Department (M.S.), Hygeia Hospital, Athens, Greece.

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http://dx.doi.org/10.1212/WNL.0000000000001720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501937PMC
July 2015

Influence of COMT genotype and affective distractors on the processing of self-generated thought.

Soc Cogn Affect Neurosci 2015 Jun 3;10(6):777-82. Epub 2014 Sep 3.

Institute of Cognitive Neuroscience, University College London, 17 Queen Square, London, WC1N 3AR, UK, Department of Psychological Sciences, Birkbeck, University of London, Malet Street, London, WC1E 7HX, UK and Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1093/scan/nsu118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4305337PMC
June 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

Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Brain 2015 May 14;138(Pt 5):e352. Epub 2014 Nov 14.

1 Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK

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http://dx.doi.org/10.1093/brain/awu309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407186PMC
May 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

Mutations in HPCA cause autosomal-recessive primary isolated dystonia.

Am J Hum Genet 2015 Apr 19;96(4):657-65. Epub 2015 Mar 19.

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; UCL Genetics Institute, London WC1E 6BT, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297150006
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http://dx.doi.org/10.1016/j.ajhg.2015.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385177PMC
April 2015

When the penny drops.

Pract Neurol 2014 Dec 9;14(6):409-14. Epub 2014 Jun 9.

Department of Molecular Neuroscience, UCL Institute of Neurology, and National Hospital for Neurology & Neurosurgery, London, UK.

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http://pn.bmj.com/lookup/doi/10.1136/practneurol-2014-000859
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http://dx.doi.org/10.1136/practneurol-2014-000859DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251201PMC
December 2014

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.

Neurology 2014 Nov 8;83(20):1873-5. Epub 2014 Oct 8.

From UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery (J.H., N.W.W., H.H.); Great Ormond Street Hospital for Children NHS Foundation Trust (D.B., G.A., T.S.J.); UCL Institute of Child Health (R.C., T.S.J., P.M., P.G.); Barts NHS Trust (J.F.), Royal London Hospital; and UCL (P.G., S.E.M.), London, UK.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000098
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http://dx.doi.org/10.1212/WNL.0000000000000981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240432PMC
November 2014

Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.

Mov Disord 2014 Jul 21;29(8):1060-4. Epub 2014 Apr 21.

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

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http://dx.doi.org/10.1002/mds.25883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190821PMC
July 2014

The phenotypic spectrum of DYT24 due to ANO3 mutations.

Mov Disord 2014 Jun 17;29(7):928-34. Epub 2014 Jan 17.

Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom; Neurology Clinic, Attiko Hospital, University of Athens, Greece.

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http://doi.wiley.com/10.1002/mds.25802
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http://dx.doi.org/10.1002/mds.25802DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150528PMC
June 2014

PINK1 deficiency in β-cells increases basal insulin secretion and improves glucose tolerance in mice.

Open Biol 2014 May 7;4:140051. Epub 2014 May 7.

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

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http://dx.doi.org/10.1098/rsob.140051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4042854PMC
May 2014

Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.

Mov Disord Clin Pract 2014 Apr 10;1(1):3-13. Epub 2014 Apr 10.

UCL Department of Molecular Neuroscience and UCL Genetics Institute University College London London United Kingdom.

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http://dx.doi.org/10.1002/mdc3.12000DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6183020PMC
April 2014

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation.

Biol Psychiatry 2014 Mar 17;75(5):386-97. Epub 2013 Jul 17.

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http://dx.doi.org/10.1016/j.biopsych.2013.03.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923972PMC
March 2014

ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

Neurology 2014 Mar 21;82(12):1065-7. Epub 2014 Feb 21.

From the Department of Molecular Neuroscience (U.-M.S.) and Sobell Department of Motor Neuroscience and Movement Disorders (M.S., K.P.B.), UCL Institute of Neurology, London, UK; University of Kiel (S.A.S., G.D., F.H.), Movement Disorders Clinic, Germany; Department of Paediatrics (L.C.), Great Ormond Street Hospital, London, UK; Second Department of Neurology (M.S.), University of Athens, Greece; and UCL Department of Molecular Neuroscience and UCL Genetics Institute (N.W.W.), University College London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000000254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962990PMC
March 2014

Friedreich's ataxia and other hereditary ataxias in Greece: an 18-year perspective.

J Neurol Sci 2014 Jan 16;336(1-2):87-92. Epub 2013 Oct 16.

Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens, Greece.

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http://dx.doi.org/10.1016/j.jns.2013.10.012DOI Listing
January 2014

No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia.

Mov Disord 2014 Jan 12;29(1):154-5. Epub 2013 Nov 12.

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

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http://doi.wiley.com/10.1002/mds.25713
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http://dx.doi.org/10.1002/mds.25713DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235246PMC
January 2014

A novel prion disease associated with diarrhea and autonomic neuropathy.

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

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

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

Genome-wide association analysis identifies 13 new risk loci for schizophrenia.

Authors:
Stephan Ripke Colm O'Dushlaine Kimberly Chambert Jennifer L Moran Anna K Kähler Susanne Akterin Sarah E Bergen Ann L Collins James J Crowley Menachem Fromer Yunjung Kim Sang Hong Lee Patrik K E Magnusson Nick Sanchez Eli A Stahl Stephanie Williams Naomi R Wray Kai Xia Francesco Bettella Anders D Borglum Brendan K Bulik-Sullivan Paul Cormican Nick Craddock Christiaan de Leeuw Naser Durmishi Michael Gill Vera Golimbet Marian L Hamshere Peter Holmans David M Hougaard Kenneth S Kendler Kuang Lin Derek W Morris Ole Mors Preben B Mortensen Benjamin M Neale Francis A O'Neill Michael J Owen Milica Pejovic Milovancevic Danielle Posthuma John Powell Alexander L Richards Brien P Riley Douglas Ruderfer Dan Rujescu Engilbert Sigurdsson Teimuraz Silagadze August B Smit Hreinn Stefansson Stacy Steinberg Jaana Suvisaari Sarah Tosato Matthijs Verhage James T Walters Douglas F Levinson Pablo V Gejman Kenneth S Kendler Claudine Laurent Bryan J Mowry Michael C O'Donovan Michael J Owen Ann E Pulver Brien P Riley Sibylle G Schwab Dieter B Wildenauer Frank Dudbridge Peter Holmans Jianxin Shi Margot Albus Madeline Alexander Dominique Campion David Cohen Dimitris Dikeos Jubao Duan Peter Eichhammer Stephanie Godard Mark Hansen F Bernard Lerer Kung-Yee Liang Wolfgang Maier Jacques Mallet Deborah A Nertney Gerald Nestadt Nadine Norton Francis A O'Neill George N Papadimitriou Robert Ribble Alan R Sanders Jeremy M Silverman Dermot Walsh Nigel M Williams Brandon Wormley Maria J Arranz Steven Bakker Stephan Bender Elvira Bramon David Collier Benedicto Crespo-Facorro Jeremy Hall Conrad Iyegbe Assen Jablensky Rene S Kahn Luba Kalaydjieva Stephen Lawrie Cathryn M Lewis Kuang Lin Don H Linszen Ignacio Mata Andrew McIntosh Robin M Murray Roel A Ophoff John Powell Dan Rujescu Jim Van Os Muriel Walshe Matthias Weisbrod Durk Wiersma Peter Donnelly Ines Barroso Jenefer M Blackwell Elvira Bramon Matthew A Brown Juan P Casas Aiden P Corvin Panos Deloukas Audrey Duncanson Janusz Jankowski Hugh S Markus Christopher G Mathew Colin N A Palmer Robert Plomin Anna Rautanen Stephen J Sawcer Richard C Trembath Ananth C Viswanathan Nicholas W Wood Chris C A Spencer Gavin Band Céline Bellenguez Colin Freeman Garrett Hellenthal Eleni Giannoulatou Matti Pirinen Richard D Pearson Amy Strange Zhan Su Damjan Vukcevic Peter Donnelly Cordelia Langford Sarah E Hunt Sarah Edkins Rhian Gwilliam Hannah Blackburn Suzannah J Bumpstead Serge Dronov Matthew Gillman Emma Gray Naomi Hammond Alagurevathi Jayakumar Owen T McCann Jennifer Liddle Simon C Potter Radhi Ravindrarajah Michelle Ricketts Avazeh Tashakkori-Ghanbaria Matthew J Waller Paul Weston Sara Widaa Pamela Whittaker Ines Barroso Panos Deloukas Christopher G Mathew Jenefer M Blackwell Matthew A Brown Aiden P Corvin Mark I McCarthy Chris C A Spencer Elvira Bramon Aiden P Corvin Michael C O'Donovan Kari Stefansson Edward Scolnick Shaun Purcell Steven A McCarroll Pamela Sklar Christina M Hultman Patrick F Sullivan

Nat Genet 2013 Oct 25;45(10):1150-9. Epub 2013 Aug 25.

1] Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA. [2] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [3].

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http://dx.doi.org/10.1038/ng.2742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827979PMC
October 2013

Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

Neurology 2013 Sep 14;81(13):1148-51. Epub 2013 Aug 14.

From the Department of Molecular Neuroscience (G.C., N.W.W.), and Sobell Department of Motor Neuroscience and Movement Disorders (M.S., K.P.B.), UCL Institute of Neurology, Queen Square, London, UK; Neurology Centre and Research (M.D.M.), Kolhapur, India; Department of Neurology (S.A.S.), University of Kiel, Germany; Movement Disorders Clinic (M.S.), Second Department of Neurology, Attiko Hospital, University of Athens, Greece; and Neurology Clinic (M.S.), Philipps University, Marburg, Germany.

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http://dx.doi.org/10.1212/WNL.0b013e3182a55fa2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3795596PMC
September 2013

The genetics of dystonia: new twists in an old tale.

Brain 2013 Jul 17;136(Pt 7):2017-37. Epub 2013 Jun 17.

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

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http://dx.doi.org/10.1093/brain/awt138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3692036PMC
July 2013

Signalling properties of inorganic polyphosphate in the mammalian brain.

Nat Commun 2013 ;4:1362

Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK.

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http://dx.doi.org/10.1038/ncomms2364DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3562455PMC
June 2013

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

Ann Neurol 2013 Apr 19;73(4):546-53. Epub 2013 Feb 19.

Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.23832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698699PMC
April 2013

The role of the mitochondrial NCX in the mechanism of neurodegeneration in Parkinson's disease.

Adv Exp Med Biol 2013 ;961:241-9

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

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http://dx.doi.org/10.1007/978-1-4614-4756-6_20DOI Listing
March 2013

Dopamine induced neurodegeneration in a PINK1 model of Parkinson's disease.

PLoS One 2012 25;7(5):e37564. Epub 2012 May 25.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0037564PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3360782PMC
December 2012

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.

Ann Neurol 2012 Sep;72(3):455-63

Department of Clinical Neurosciences, University College London Institute of Neurology.

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http://dx.doi.org/10.1002/ana.23614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638323PMC
September 2012