Bru Cormand

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Bru Cormand

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Genome-wide association meta-analysis of cocaine dependence: Shared genetics with comorbid conditions.

Prog Neuropsychopharmacol Biol Psychiatry 2019 Aug 15;94:109667. Epub 2019 Jun 15.

Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Catalonia, Spain; Institut de Recerca Sant Joan de Déu (IR-SJD), Esplugues de Llobregat, Catalonia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.pnpbp.2019.109667DOI Listing
August 2019

Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes

J Psychiatry Neurosci 2019 May 16;44(4):1-10. Epub 2019 May 16.

From the Departament de Genètica, Microbiologia i Estadística, Universitat de Barcelona, Spain (Torrico, Vivó-Luque, Fernàndez-Castillo, Cormand, Toma); the Institute of Biomedicine, University of Barcelona, Barcelona, Spain (Torrico, Fernàndez-Castillo, Cormand, Toma); the Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain (Torrico, Fernàndez-Castillo, Cormand, Toma); the Institut de Recerca Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain (Torrico, Fernàndez-Castillo, Cormand); the Neuroscience Research Australia, Sydney, NSW, Australia (Shaw, Fullerton, Toma); the School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia (Shaw, Fullerton, Toma); the Institute for Research in Biomedicine (IRB Barcelona) and the Barcelona Institute of Science and Technology, Barcelona, Spain (Mosca, Aloy); the Child and Adolescent Mental Health Unit, Hospital Universitari Mútua de Terrassa, Spain (Hervás); the Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain (Aloy); and the Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain (Bayés).

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http://dx.doi.org/10.1503/jpn.180184DOI Listing
May 2019

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

Nat Genet 2019 01 26;51(1):63-75. Epub 2018 Nov 26.

Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

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http://www.nature.com/articles/s41588-018-0269-7
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http://dx.doi.org/10.1038/s41588-018-0269-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481311PMC
January 2019

MiR-9, miR-153 and miR-124 are down-regulated by acute exposure to cocaine in a dopaminergic cell model and may contribute to cocaine dependence.

Transl Psychiatry 2018 08 30;8(1):173. Epub 2018 Aug 30.

Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1038/s41398-018-0224-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117282PMC
August 2018

Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample.

Drug Alcohol Depend 2018 06 16;187:358-362. Epub 2018 Apr 16.

Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Av. Diagonal 643, 08028 Barcelona, Catalonia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Av. Monforte de Lemos 3-5, Pabellón 11, 280029, Madrid, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Av. Diagonal 643, 08028 Barcelona, Catalonia, Spain; Institut de Recerca Sant Joan de Déu (IR-SJD), Passeig de Sant Joan de Déu 2, 08950 Esplugues de Llobregat, Barcelona, Catalonia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.drugalcdep.2018.03.013DOI Listing
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

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.

Sci Rep 2018 01 12;8(1):694. Epub 2018 Jan 12.

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41598-017-19109-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5766530PMC
January 2018

RBFOX1, encoding a splicing regulator, is a candidate gene for aggressive behavior.

Eur Neuropsychopharmacol 2017 Nov 23. Epub 2017 Nov 23.

Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Catalonia, Spain; Institut de Recerca Sant Joan de Déu (IR-SJD), Esplugues de Llobregat, Catalonia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.euroneuro.2017.11.012DOI Listing
November 2017

Association of the PLCB1 gene with drug dependence.

Sci Rep 2017 08 31;7(1):10110. Epub 2017 Aug 31.

Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1038/s41598-017-10207-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5579249PMC
August 2017

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

Sci Rep 2017 05 31;7(1):2514. Epub 2017 May 31.

Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1038/s41598-017-02554-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451382PMC
May 2017

Transcriptomic Changes in Rat Cortex and Brainstem After Cortical Spreading Depression With or Without Pretreatment With Migraine Prophylactic Drugs.

J Pain 2017 04 3;18(4):366-375. Epub 2016 Dec 3.

Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Catalonia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues, Barcelona, Catalonia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jpain.2016.11.007DOI Listing
April 2017

Meta-analysis of the DRD5 VNTR in persistent ADHD.

Eur Neuropsychopharmacol 2016 09 29;26(9):1527-1532. Epub 2016 Jul 29.

Radboud university medical center, Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics, Nijmegen, The Netherlands; Radboud university medical center, Donders Institute for Brain, Cognition and Behaviour, Department of Psychiatry, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.euroneuro.2016.06.012DOI Listing
September 2016

Aggressive behavior in humans: Genes and pathways identified through association studies.

Am J Med Genet B Neuropsychiatr Genet 2016 07 15;171(5):676-96. Epub 2016 Jan 15.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1002/ajmg.b.32419DOI Listing
July 2016

The genetics of aggression: Where are we now?

Am J Med Genet B Neuropsychiatr Genet 2016 07 8;171(5):559-61. Epub 2016 Apr 8.

Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1002/ajmg.b.32450DOI Listing
July 2016

Genetics of aggressive behavior: An overview.

Am J Med Genet B Neuropsychiatr Genet 2016 Jan 8;171B(1):3-43. Epub 2015 Sep 8.

Departments of Psychiatry and of Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, New York.

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http://dx.doi.org/10.1002/ajmg.b.32364DOI Listing
January 2016

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

Am J Med Genet A 2016 Jan 7;170A(1):24-31. Epub 2015 Oct 7.

Department of Genetics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.37418DOI Listing
January 2016

Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder.

Am J Med Genet B Neuropsychiatr Genet 2015 Sep 14;168(6):480-491. Epub 2015 Jul 14.

Psychiatric Genetics Unit, Institute Vall d'Hebron Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.b.32340DOI Listing
September 2015

Replication study of previous migraine genome-wide association study findings in a Spanish sample of migraine with aura.

Cephalalgia 2015 Aug 11;35(9):776-82. Epub 2014 Nov 11.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Spain Institut de Biomedicina de la Universitat de Barcelona (IBUB), Spain Center for Biomedical Network Research on Rare Diseases (CIBERER)-Institute of Health Carlos III, Spain

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http://dx.doi.org/10.1177/0333102414557841DOI Listing
August 2015

Frustrated expected reward induces differential transcriptional changes in the mouse brain.

Addict Biol 2015 Jan 6;20(1):22-37. Epub 2014 Oct 6.

Laboratori de Neurofarmacologia, Departament de Ciències Experimentals i de la Salut, PRBB, Universitat Pompeu Fabra, Spain.

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http://dx.doi.org/10.1111/adb.12188DOI Listing
January 2015

Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.

J Neurol Sci 2014 Sep 17;344(1-2):37-42. Epub 2014 Jun 17.

Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain. Electronic address:

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

The involvement of serotonin polymorphisms in autistic spectrum symptomatology.

Psychiatr Genet 2014 Aug;24(4):158-63

aDepartment of Child Psychiatry bFundació Docència i Recerca Mútua Terrassa, Hospital Universitari Mútua Terrassa cDepartment of Genetics, University of Barcelona dInstitut de Biomedicina de la Universitat de Barcelona (IBUB) eBiomedical Network Research Centre on Rare Diseases (CIBERER) fPsychiatric Genetics Unit, Vall d"Hebron Research Institute (VHIR) gNational Center for Genome Analysis (CNAG) hDepartment of Psychiatry, Hospital Sant Joan de Deu iDepartment of Psychiatry, Hospital Santa Creu i Sant Pau, Barcelona, Spain jDepartment of Neuroscience, Institute of Psychiatry, King's College London, London, UK.

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http://www.ub.edu/geneticaclasses/brucormand/pdfs/99.pdf
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
Publisher Site
http://dx.doi.org/10.1097/YPG.0000000000000034DOI Listing
August 2014

A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy.

Eur J Paediatr Neurol 2014 May 8;18(3):430-3. Epub 2014 Jan 8.

Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; Secció de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798140000
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http://dx.doi.org/10.1016/j.ejpn.2013.12.011DOI Listing
May 2014

Genome-wide copy number variation analysis in adult attention-deficit and hyperactivity disorder.

J Psychiatr Res 2014 Feb 9;49:60-7. Epub 2013 Nov 9.

Department of Psychiatry, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Biomedical Network Research Centre on Mental Health (CIBERSAM), Barcelona, Spain; Psychiatric Genetics Unit, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jpsychires.2013.10.022DOI Listing
February 2014

Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses.

Psychiatr Genet 2013 Dec;23(6):262-6

aSeville Biomedical Research Institute (IBiS), Virgen del Rocio University Hospital, CSIC bDepartment of Medical Physiology and Biophysics, University of Seville, Seville cChild and Adolescent Mental Health Unit, Mutua de Terrassa University Hospital, Terrassa dDepartment of Genetics, Faculty of Biology, University of Barcelona eBiomedical Network Research Centre on Rare Diseases (CIBERER) fInstitute of Biomedicine (IBUB), University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1097/YPG.0000000000000013DOI Listing
December 2013

Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs).

Eur Neuropsychopharmacol 2013 Nov 29;23(11):1463-73. Epub 2013 Jul 29.

Psychiatric Genetics Unit, Vall d'Hebron Research Institute (VHIR), Barcelona, Catalonia, Spain; Department of Psychiatry, Hospital Universitari Vall d'Hebron, Barcelona, Catalonia, Spain; Biomedical Network Research Centre on Mental Health (CIBERSAM), Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1016/j.euroneuro.2013.07.002DOI Listing
November 2013

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.

Mol Genet Genomic Med 2013 Nov 2;1(4):206-22. Epub 2013 Jul 2.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona Barcelona, Spain ; Institut de Biomedicina de la Universitat de Barcelona (IBUB) Barcelona, Spain ; Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III Spain.

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http://dx.doi.org/10.1002/mgg3.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865589PMC
November 2013

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

Authors:
S Hong Lee Stephan Ripke Benjamin M Neale Stephen V Faraone Shaun M Purcell Roy H Perlis Bryan J Mowry Anita Thapar Michael E Goddard John S Witte Devin Absher Ingrid Agartz Huda Akil Farooq Amin Ole A Andreassen Adebayo Anjorin Richard Anney Verneri Anttila Dan E Arking Philip Asherson Maria H Azevedo Lena Backlund Judith A Badner Anthony J Bailey Tobias Banaschewski Jack D Barchas Michael R Barnes Thomas B Barrett Nicholas Bass Agatino Battaglia Michael Bauer Mònica Bayés Frank Bellivier Sarah E Bergen Wade Berrettini Catalina Betancur Thomas Bettecken Joseph Biederman Elisabeth B Binder Donald W Black Douglas H R Blackwood Cinnamon S Bloss Michael Boehnke Dorret I Boomsma Gerome Breen René Breuer Richard Bruggeman Paul Cormican Nancy G Buccola Jan K Buitelaar William E Bunney Joseph D Buxbaum William F Byerley Enda M Byrne Sian Caesar Wiepke Cahn Rita M Cantor Miguel Casas Aravinda Chakravarti Kimberly Chambert Khalid Choudhury Sven Cichon C Robert Cloninger David A Collier Edwin H Cook Hilary Coon Bru Cormand Aiden Corvin William H Coryell David W Craig Ian W Craig Jennifer Crosbie Michael L Cuccaro David Curtis Darina Czamara Susmita Datta Geraldine Dawson Richard Day Eco J De Geus Franziska Degenhardt Srdjan Djurovic Gary J Donohoe Alysa E Doyle Jubao Duan Frank Dudbridge Eftichia Duketis Richard P Ebstein Howard J Edenberg Josephine Elia Sean Ennis Bruno Etain Ayman Fanous Anne E Farmer I Nicol Ferrier Matthew Flickinger Eric Fombonne Tatiana Foroud Josef Frank Barbara Franke Christine Fraser Robert Freedman Nelson B Freimer Christine M Freitag Marion Friedl Louise Frisén Louise Gallagher Pablo V Gejman Lyudmila Georgieva Elliot S Gershon Daniel H Geschwind Ina Giegling Michael Gill Scott D Gordon Katherine Gordon-Smith Elaine K Green Tiffany A Greenwood Dorothy E Grice Magdalena Gross Detelina Grozeva Weihua Guan Hugh Gurling Lieuwe De Haan Jonathan L Haines Hakon Hakonarson Joachim Hallmayer Steven P Hamilton Marian L Hamshere Thomas F Hansen Annette M Hartmann Martin Hautzinger Andrew C Heath Anjali K Henders Stefan Herms Ian B Hickie Maria Hipolito Susanne Hoefels Peter A Holmans Florian Holsboer Witte J Hoogendijk Jouke-Jan Hottenga Christina M Hultman Vanessa Hus Andrés Ingason Marcus Ising Stéphane Jamain Edward G Jones Ian Jones Lisa Jones Jung-Ying Tzeng Anna K Kähler René S Kahn Radhika Kandaswamy Matthew C Keller James L Kennedy Elaine Kenny Lindsey Kent Yunjung Kim George K Kirov Sabine M Klauck Lambertus Klei James A Knowles Martin A Kohli Daniel L Koller Bettina Konte Ania Korszun Lydia Krabbendam Robert Krasucki Jonna Kuntsi Phoenix Kwan Mikael Landén Niklas Långström Mark Lathrop Jacob Lawrence William B Lawson Marion Leboyer David H Ledbetter Phil H Lee Todd Lencz Klaus-Peter Lesch Douglas F Levinson Cathryn M Lewis Jun Li Paul Lichtenstein Jeffrey A Lieberman Dan-Yu Lin Don H Linszen Chunyu Liu Falk W Lohoff Sandra K Loo Catherine Lord Jennifer K Lowe Susanne Lucae Donald J MacIntyre Pamela A F Madden Elena Maestrini Patrik K E Magnusson Pamela B Mahon Wolfgang Maier Anil K Malhotra Shrikant M Mane Christa L Martin Nicholas G Martin Manuel Mattheisen Keith Matthews Morten Mattingsdal Steven A McCarroll Kevin A McGhee James J McGough Patrick J McGrath Peter McGuffin Melvin G McInnis Andrew McIntosh Rebecca McKinney Alan W McLean Francis J McMahon William M McMahon Andrew McQuillin Helena Medeiros Sarah E Medland Sandra Meier Ingrid Melle Fan Meng Jobst Meyer Christel M Middeldorp Lefkos Middleton Vihra Milanova Ana Miranda Anthony P Monaco Grant W Montgomery Jennifer L Moran Daniel Moreno-De-Luca Gunnar Morken Derek W Morris Eric M Morrow Valentina Moskvina Pierandrea Muglia Thomas W Mühleisen Walter J Muir Bertram Müller-Myhsok Michael Murtha Richard M Myers Inez Myin-Germeys Michael C Neale Stan F Nelson Caroline M Nievergelt Ivan Nikolov Vishwajit Nimgaonkar Willem A Nolen Markus M Nöthen John I Nurnberger Evaristus A Nwulia Dale R Nyholt Colm O'Dushlaine Robert D Oades Ann Olincy Guiomar 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Edmund J S Sonuga-Barke David St Clair Matthew State Michael Steffens Hans-Christoph Steinhausen John S Strauss Jana Strohmaier T Scott Stroup James S Sutcliffe Peter Szatmari Szabocls Szelinger Srinivasa Thirumalai Robert C Thompson Alexandre A Todorov Federica Tozzi Jens Treutlein Manfred Uhr Edwin J C G van den Oord Gerard Van Grootheest Jim Van Os Astrid M Vicente Veronica J Vieland John B Vincent Peter M Visscher Christopher A Walsh Thomas H Wassink Stanley J Watson Myrna M Weissman Thomas Werge Thomas F Wienker Ellen M Wijsman Gonneke Willemsen Nigel Williams A Jeremy Willsey Stephanie H Witt Wei Xu Allan H Young Timothy W Yu Stanley Zammit Peter P Zandi Peng Zhang Frans G Zitman Sebastian Zöllner Bernie Devlin John R Kelsoe Pamela Sklar Mark J Daly Michael C O'Donovan Nicholas Craddock Patrick F Sullivan Jordan W Smoller Kenneth S Kendler Naomi R Wray

Nat Genet 2013 Sep 11;45(9):984-94. Epub 2013 Aug 11.

The University of Queensland, Queensland Brain Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1038/ng.2711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3800159PMC
September 2013

Chiari malformation type I: a case-control association study of 58 developmental genes.

PLoS One 2013 21;8(2):e57241. Epub 2013 Feb 21.

Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0057241PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578784PMC
August 2013

Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency.

Mov Disord 2013 Jul 6;28(8):1058-63. Epub 2013 Feb 6.

First Department of Pediatrics, Aghia Sophia Children's Hospital, University of Athens, Athens, Greece.

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http://dx.doi.org/10.1002/mds.25382DOI Listing
July 2013

DISC1 in adult ADHD patients: an association study in two European samples.

Am J Med Genet B Neuropsychiatr Genet 2013 Apr 6;162B(3):227-34. Epub 2013 Feb 6.

Department of Biomedicine, University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1002/ajmg.b.32136DOI Listing
April 2013

Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.

Mol Genet Metab 2012 Dec 14;107(4):716-20. Epub 2012 Oct 14.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921200372
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http://dx.doi.org/10.1016/j.ymgme.2012.10.004DOI Listing
December 2012

A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample.

Cephalalgia 2012 Oct 20;32(14):1076-80. Epub 2012 Aug 20.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1177/0333102412457090DOI Listing
October 2012

Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation.

Headache 2011 Nov-Dec;51(10):1542-6

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.

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http://doi.wiley.com/10.1111/j.1526-4610.2011.02014.x
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http://dx.doi.org/10.1111/j.1526-4610.2011.02014.xDOI Listing
September 2012

Candidate system analysis in ADHD: evaluation of nine genes involved in dopaminergic neurotransmission identifies association with DRD1.

World J Biol Psychiatry 2012 Apr 9;13(4):281-92. Epub 2012 Mar 9.

Department of Psychiatry, Hospital Universitari Vall d'Hebron, and Department of Psychiatry and Legal Medicine, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.3109/15622975.2011.584905DOI Listing
April 2012

SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population.

Am J Med Genet B Neuropsychiatr Genet 2012 Jan 7;159B(1):94-103. Epub 2011 Dec 7.

Facultat de Biologia, Departament de Genètica, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.b.32007DOI Listing
January 2012

Association study between the DAT1, DBH and DRD2 genes and cocaine dependence in a Spanish sample.

Psychiatr Genet 2010 Dec;20(6):317-20

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1097/YPG.0b013e32833b6320DOI Listing
December 2010

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene.

J Inherit Metab Dis 2010 Dec 21;33(6):795-802. Epub 2010 Sep 21.

Departament of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Dèu, 2, 08950 Esplugues, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-010-9196-1DOI Listing
December 2010

A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.

Proc Natl Acad Sci U S A 2010 Jan 8;107(4):1672-7. Epub 2010 Jan 8.

Laboratory of Molecular Physiology and Channelopathies, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain.

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http://dx.doi.org/10.1073/pnas.0908359107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824376PMC
January 2010

Two-stage case-control association study of dopamine-related genes and migraine.

BMC Med Genet 2009 Sep 21;10:95. Epub 2009 Sep 21.

Grup de Recerca en Neurologia Infantil, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1186/1471-2350-10-95DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758864PMC
September 2009

Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred.

Neurogenetics 2009 Jul 20;10(3):191-8. Epub 2009 Jan 20.

Grup de Recerca en Neurologia Infantil i Psiquiatria Genètica, Institut de Recerca Hospital Universitari Vall d'Hebron, Pg. Vall d'Hebron 119-129, 08035 Barcelona, Spain.

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http://dx.doi.org/10.1007/s10048-008-0169-6DOI Listing
July 2009

The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition.

Pflugers Arch 2009 Jul 3;458(3):489-502. Epub 2009 Feb 3.

Department of Experimental and Health Sciences, Laboratory of Molecular Physiology and Channelopathies, Universitat Pompeu Fabra, Edifici PRBB, Barcelona, Spain.

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http://link.springer.com/10.1007/s00424-009-0637-3
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July 2009

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.

J Neurol Sci 2009 May 20;280(1-2):10-4. Epub 2009 Feb 20.

Grup de Recerca en Neurologia Infantil i Psiquiatria Genètica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.jns.2009.01.005DOI Listing
May 2009

Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population.

Neurosci Lett 2009 May 6;455(2):105-9. Epub 2009 Mar 6.

Grup de Recerca en Neurologia Infantil i Psiquiatria Genètica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.neulet.2009.03.011DOI Listing
May 2009

Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.

Mol Genet Metab 2008 Jul 10;94(3):305-12. Epub 2008 Apr 10.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2008.02.012DOI Listing
July 2008

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.

Mol Genet Metab 2007 Sep-Oct;92(1-2):122-30. Epub 2007 Jul 20.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Av. Diagonal 645, edifici annex, 3a planta, E-08028 Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2007.06.002DOI Listing
November 2007

Implication of chromosome 18 in hypertension by sibling pair and association analyses: putative involvement of the RKHD2 gene.

Hypertension 2006 Nov 2;48(5):883-91. Epub 2006 Oct 2.

Servei de Nefrologia, Hospital Clínic, Universitat de Barcelona, Villarroel 170, 08036 Barcelona, Spain.

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http://dx.doi.org/10.1161/01.HYP.0000244085.52918.a0DOI Listing
November 2006

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.

Hum Genet 2005 Jul 23;117(2-3):275-7. Epub 2005 Apr 23.

Departament de Genètica, Facultat de Biología, Universitat de Barcelona, Av. Diagonal 645, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1007/s00439-005-1288-xDOI Listing
July 2005

Association of TGF-beta1 polymorphisms with chronic renal disease.

J Nephrol 2004 Nov-Dec;17(6):794-9

Nephrology Service, Hospital Clinic, Faculty of Biology, Faculty of Medicine, University of Barcelona, Spain.

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March 2005

Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease.

Blood Cells Mol Dis 2003 Sep-Oct;31(2):183-6

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Spain.

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May 2004

Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients.

Hum Genet 2003 Apr 14;112(4):426-9. Epub 2003 Feb 14.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Av. Diagonal, 645, E-08028 Barcelona, Spain.

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http://dx.doi.org/10.1007/s00439-002-0894-0DOI Listing
April 2003

[New adult-onset ataxia in a Finnish family].

Duodecim 2002 ;118(20):2115-22

Seinäjoen keskussairaala, fysiatrian ja kuntoutuksen yksikkö sekä neurologian yksikkö 60220 Seinäjoki.

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December 2002