Javier Simon-Sanchez

Javier Simon-Sanchez

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Javier Simon-Sanchez

Javier Simon-Sanchez

Publications by authors named "Javier Simon-Sanchez"

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

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

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

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

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

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Authors:
Cyril Pottier Yingxue Ren Ralph B Perkerson Matt Baker Gregory D Jenkins Marka van Blitterswijk Mariely DeJesus-Hernandez Jeroen G J van Rooij Melissa E Murray Elizabeth Christopher Shannon K McDonnell Zachary Fogarty Anthony Batzler Shulan Tian Cristina T Vicente Billie Matchett Anna M Karydas Ging-Yuek Robin Hsiung Harro Seelaar Merel O Mol Elizabeth C Finger Caroline Graff Linn Öijerstedt Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Johannes Prudlo Patrizia Rizzu Javier Simon-Sanchez Dieter Edbauer Sigrun Roeber Janine Diehl-Schmid Bret M Evers Andrew King M Marsel Mesulam Sandra Weintraub Changiz Geula Kevin F Bieniek Leonard Petrucelli Geoffrey L Ahern Eric M Reiman Bryan K Woodruff Richard J Caselli Edward D Huey Martin R Farlow Jordan Grafman Simon Mead Lea T Grinberg Salvatore Spina Murray Grossman David J Irwin Edward B Lee EunRan Suh Julie Snowden David Mann Nilufer Ertekin-Taner Ryan J Uitti Zbigniew K Wszolek Keith A Josephs Joseph E Parisi David S Knopman Ronald C Petersen John R Hodges Olivier Piguet Ethan G Geier Jennifer S Yokoyama Robert A Rissman Ekaterina Rogaeva Julia Keith Lorne Zinman Maria Carmela Tartaglia Nigel J Cairns Carlos Cruchaga Bernardino Ghetti Julia Kofler Oscar L Lopez Thomas G Beach Thomas Arzberger Jochen Herms Lawrence S Honig Jean Paul Vonsattel Glenda M Halliday John B Kwok Charles L White Marla Gearing Jonathan Glass Sara Rollinson Stuart Pickering-Brown Jonathan D Rohrer John Q Trojanowski Vivianna Van Deerlin Eileen H Bigio Claire Troakes Safa Al-Sarraj Yan Asmann Bruce L Miller Neill R Graff-Radford Bradley F Boeve William W Seeley Ian R A Mackenzie John C van Swieten Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Acta Neuropathol 2019 Jun 9;137(6):879-899. Epub 2019 Feb 9.

Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.

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http://link.springer.com/10.1007/s00401-019-01962-9
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http://dx.doi.org/10.1007/s00401-019-01962-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533145PMC
June 2019

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

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

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

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http://dx.doi.org/10.1002/mds.27442DOI Listing
August 2018

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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http://dx.doi.org/10.1016/j.parkreldis.2017.12.007DOI Listing
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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http://dx.doi.org/10.1002/mds.26886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5318291PMC
February 2017

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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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http://dx.doi.org/10.1212/WNL.0000000000001345DOI Listing
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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http://dx.doi.org/10.1038/ejhg.2013.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895635PMC
February 2014

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

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

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

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

Cervical dystonia and genetic common variation in the dopamine pathway.

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

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

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

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

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

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

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

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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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0007494PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2761542PMC
October 2009

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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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddn340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2638775PMC
January 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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http://dx.doi.org/10.1016/S1474-4422(08)70241-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824165PMC
November 2008

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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http://dx.doi.org/10.1093/hmg/ddn096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2574854PMC
July 2008

Genomewide SNP assay reveals mutations underlying Parkinson disease.

Hum Mutat 2008 Feb;29(2):315-22

Molecular Genetics Unit, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/humu.20626DOI Listing
February 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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http://dx.doi.org/10.1111/j.1460-9568.2006.04616.xDOI Listing
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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http://dx.doi.org/10.1016/j.neulet.2005.03.015DOI Listing
July 2005