Publications by authors named "Javier Simón-Sánchez"

58Publications

Correction to: 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 2020 05;139(5):959-962

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

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May 2020

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.

Authors:
Sara Bandres-Ciga Sarah Ahmed Marya S Sabir Cornelis Blauwendraat Astrid D Adarmes-Gómez Inmaculada Bernal-Bernal Marta Bonilla-Toribio Dolores Buiza-Rueda Fátima Carrillo Mario Carrión-Claro Pilar Gómez-Garre Silvia Jesús Miguel A Labrador-Espinosa Daniel Macias Carlota Méndez-Del-Barrio Teresa Periñán-Tocino Cristina Tejera-Parrado Laura Vargas-González Monica Diez-Fairen Ignacio Alvarez Juan Pablo Tartari Mariateresa Buongiorno Miquel Aguilar Ana Gorostidi Jesús Alberto Bergareche Elisabet Mondragon Ana Vinagre-Aragon Ioana Croitoru Javier Ruiz-Martínez Oriol Dols-Icardo Jaime Kulisevsky Juan Marín-Lahoz Javier Pagonabarraga Berta Pascual-Sedano Mario Ezquerra Ana Cámara Yaroslau Compta Manel Fernández Rubén Fernández-Santiago Esteban Muñoz Eduard Tolosa Francesc Valldeoriola Isabel Gonzalez-Aramburu Antonio Sanchez Rodriguez María Sierra Manuel Menéndez-González Marta Blazquez Ciara Garcia Esther Suarez-San Martin Pedro García-Ruiz Juan Carlos Martínez-Castrillo Lydia Vela-Desojo Clara Ruz Francisco Javier Barrero Francisco Escamilla-Sevilla Adolfo Mínguez-Castellanos Debora Cerdan Cesar Tabernero Maria Jose Gomez Heredia Francisco Perez Errazquin Manolo Romero-Acebal Cici Feliz Jose Luis Lopez-Sendon Marina Mata Irene Martínez Torres Jonggeol Jeffrey Kim Clifton L Dalgard Janet Brooks Sara Saez-Atienzar J Raphael Gibbs Rafael Jorda Juan A Botia Luis Bonet-Ponce Karen E Morrison Carl Clarke Manuela Tan Huw Morris Connor Edsall Dena Hernandez Javier Simon-Sanchez Mike A Nalls Sonja W Scholz Adriano Jimenez-Escrig Jacinto Duarte Francisco Vives Raquel Duran Janet Hoenicka Victoria Alvarez Jon Infante Maria José Marti Jordi Clarimón Adolfo López de Munain Pau Pastor Pablo Mir Andrew Singleton

Mov Disord 2019 12 29;34(12):1851-1863. Epub 2019 Oct 29.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.

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December 2019

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 08 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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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 06 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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June 2019

Role of LRRK2 and SNCA in autosomal dominant Parkinson's disease in Turkey.

Parkinsonism Relat Disord 2018 03 9;48:34-39. Epub 2017 Dec 9.

Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. Electronic address:

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March 2018

ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies.

Mov Disord 2017 02 17;32(2):298-299. Epub 2016 Dec 17.

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.

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February 2017

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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April 2016

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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August 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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January 2016

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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October 2015

Parkinson disease GWAS: the question of lumping or splitting is back again.

Neurology 2015 Mar 6;84(10):966-7. Epub 2015 Feb 6.

From Genetics and Epigenetics of Neurodegeneration (J.S.-S.) and Department of Neurodegenerative Diseases (T.G.), Hertie Institute for Clinical Brain Research, University of Tübingen; and German Center for Neurodegenerative Diseases (J.S.-S., T.G.), Tübingen, Germany.

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March 2015

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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February 2014

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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March 2013

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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October 2011

Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.

PLoS One 2009 Oct 22;4(10):e7494. Epub 2009 Oct 22.

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

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October 2009

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.

PLoS Genet 2009 Mar 13;5(3):e1000415. Epub 2009 Mar 13.

Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, Bethesda, Maryland, United States of America.

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March 2009

Genome-wide association studies in neurological disorders.

Lancet Neurol 2008 Nov;7(11):1067-72

Molecular Genetics Section, Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

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November 2008

Lack of replication of association between GIGYF2 variants and Parkinson disease.

Hum Mol Genet 2009 Jan 15;18(2):341-6. Epub 2008 Oct 15.

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

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January 2009

Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.

Hum Mol Genet 2008 Jul 25;17(13):1988-93. Epub 2008 Mar 25.

Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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July 2008

LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain.

Eur J Neurosci 2006 Feb;23(3):659-66

Unitat de Genètica Molecular, Departament de Genòmica i Proteòmica, Institut de Biomedicina de València-CSIC, C/Jaume Roig, 11, E46010 València, Spain.

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February 2006

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease.

Neurosci Lett 2005 Jul 1-8;382(1-2):191-4. Epub 2005 Apr 1.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A100, MSC 3707, 35 Lincoln Drive, Bethesda, MD 20892, USA.

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July 2005