S
Sara Ortega-Cubero
Researcher at Carlos III Health Institute
Publications - 55
Citations - 3115
Sara Ortega-Cubero is an academic researcher from Carlos III Health Institute. The author has contributed to research in topics: Frontotemporal dementia & Single-nucleotide polymorphism. The author has an hindex of 24, co-authored 54 publications receiving 2508 citations. Previous affiliations of Sara Ortega-Cubero include University of Barcelona & University of Navarra.
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Journal ArticleDOI
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
Rebecca Sims,Sven J. van der Lee,Adam C. Naj,Céline Bellenguez,Céline Bellenguez,Nandini Badarinarayan,Johanna Jakobsdottir,Brian W. Kunkle,Anne Boland,Rachel Raybould,Joshua C. Bis,Eden R. Martin,Benjamin Grenier-Boley,Benjamin Grenier-Boley,Stefanie Heilmann-Heimbach,Vincent Chouraki,Vincent Chouraki,Amanda B. Kuzma,Kristel Sleegers,Kristel Sleegers,Maria Vronskaya,Agustín Ruiz,Robert R. Graham,Robert Olaso,Per Hoffmann,Per Hoffmann,Megan L. Grove,Badri N. Vardarajan,Mikko Hiltunen,Markus M. Nöthen,Charles C. White,Kara L. Hamilton-Nelson,Jacques Epelbaum,Wolfgang Maier,Wolfgang Maier,Seung Hoan Choi,Gary W. Beecham,Cécile Dulary,Stefan Herms,Stefan Herms,Albert V. Smith,Cory C. Funk,Céline Derbois,Andreas J. Forstner,Shahzad Ahmad,Hong-Dong Li,Delphine Bacq,Denise Harold,Claudia L. Satizabal,Claudia L. Satizabal,Otto Valladares,Alessio Squassina,Rhodri Thomas,Jennifer A. Brody,Liming Qu,Pascual Sánchez-Juan,Taniesha Morgan,Frank J. Wolters,Yi Zhao,Florentino Sanchez Garcia,Nicola Denning,Myriam Fornage,John Malamon,Maria Candida Deniz Naranjo,Elisa Majounie,Thomas H. Mosley,Beth A. Dombroski,David Wallon,Michelle K. Lupton,Michelle K. Lupton,Josée Dupuis,Patrice L. Whitehead,Laura Fratiglioni,Laura Fratiglioni,Christopher Medway,Xueqiu Jian,Shubhabrata Mukherjee,Lina Keller,Kristelle Brown,Honghuang Lin,Laura B. Cantwell,Francesco Panza,Bernadette McGuinness,Sonia Moreno-Grau,Jeremy D. Burgess,Vincenzo Solfrizzi,Petra Proitsi,Hieab H.H. Adams,Mariet Allen,Davide Seripa,Pau Pastor,L. Adrienne Cupples,L. Adrienne Cupples,Nathan D. Price,Didier Hannequin,Ana Frank-García,Ana Frank-García,Daniel Levy,Daniel Levy,Paramita Chakrabarty,Paolo Caffarra,Paolo Caffarra,Ina Giegling,Alexa S. Beiser,Alexa S. Beiser,Vilmantas Giedraitis,Harald Hampel,Harald Hampel,Melissa E. Garcia,Xue Wang,Lars Lannfelt,Patrizia Mecocci,Gudny Eiriksdottir,Paul K. Crane,Florence Pasquier,Florence Pasquier,Virginia Boccardi,Isabel Henández,Robert Barber,Martin Scherer,Lluís Tárraga,Perrie M. Adams,Markus Leber,Yuning Chen,Marilyn S. Albert,Steffi G. Riedel-Heller,Valur Emilsson,Duane Beekly,Anne Braae,Reinhold Schmidt,Deborah Blacker,Carlo Masullo,Helena Schmidt,Rachelle S. Doody,Gianfranco Spalletta,W. T. Longstreth,Thomas Fairchild,Paola Bossù,Oscar L. Lopez,Matthew P. Frosch,Eleonora Sacchinelli,Bernardino Ghetti,Qiong Yang,Ryan M. Huebinger,Frank Jessen,Frank Jessen,Frank Jessen,Shuo Li,M. Ilyas Kamboh,John C. Morris,Oscar Sotolongo-Grau,Mindy J. Katz,Chris Corcoran,Melanie L. Dunstan,Amy Braddel,Charlene Thomas,Alun Meggy,Rachel Marshall,Amy Gerrish,Jade Chapman,Miquel Aguilar,Sarah Taylor,Matt Hill,Monica Diez Fairen,Angela Hodges,Bruno Vellas,Hilkka Soininen,Iwona Kłoszewska,Makrina Daniilidou,James Uphill,Yogen Patel,Joseph T. Hughes,Jenny Lord,James Turton,Annette M. Hartmann,Roberta Cecchetti,Chiara Fenoglio,Maria Serpente,Marina Arcaro,Carlo Caltagirone,Maria Donata Orfei,Antonio Ciaramella,Sabrina Pichler,Manuel Mayhaus,Wei Gu,Alberto Lleó,Juan Fortea,Rafael Blesa,Imelda Barber,Keeley J. Brookes,Chiara Cupidi,Raffaele Maletta,David Carrell,Sandro Sorbi,Susanne Moebus,Maria Urbano,Alberto Pilotto,Johannes Kornhuber,Paolo Bosco,Stephen Todd,David Craig,Janet A. Johnston,Michael Gill,Brian A. Lawlor,Aoibhinn Lynch,Nick C. Fox,John Hardy,Roger L. Albin,Liana G. Apostolova,Liana G. Apostolova,Liana G. Apostolova,Steven E. Arnold,Sanjay Asthana,Craig S. Atwood,Clinton T. Baldwin,Lisa L. Barnes,Sandra Barral,Thomas G. Beach,James T. Becker,Eileen H. Bigio,Thomas D. Bird,Bradley F. Boeve,James Bowen,Adam L. Boxer,James R. Burke,Jeffrey M. Burns,Joseph D. Buxbaum,Nigel J. Cairns,Chuanhai Cao,Christopher S. Carlson,Cynthia M. Carlsson,Regina M. Carney,Minerva M. Carrasquillo,Steven L. Carroll,Carolina Ceballos Diaz,Helena C. Chui,David G. Clark,David G. Clark,David H. Cribbs,Elizabeth Crocco,Charles DeCarli,Malcolm B. Dick,Ranjan Duara,Denis A. Evans,Kelley Faber,Kenneth B. Fallon,David W. Fardo,Martin R. Farlow,Steven H. Ferris,Tatiana Foroud,Douglas Galasko,Marla Gearing,Daniel H. Geschwind,John R. Gilbert,Neill R. Graff-Radford,Robert C. Green,John H. Growdon,Ronald L. Hamilton,Lindy E. Harrell,Lawrence S. Honig,Matthew J. Huentelman,Christine M. Hulette,Bradley T. Hyman,Gail P. Jarvik,Erin L. Abner,Lee-Way Jin,Gyungah Jun,Anna Karydas,Jeffrey Kaye,Jeffrey Kaye,Ronald C. Kim,Neil W. Kowall,Joel H. Kramer,Frank M. LaFerla,James J. Lah,James B. Leverenz,Allan I. Levey,Ge Li,Andrew P. Lieberman,Kathryn L. Lunetta,Constantine G. Lyketsos,Daniel C. Marson,Frank Martiniuk,Deborah C. Mash,Eliezer Masliah,Wayne C. McCormick,Susan M. McCurry,Andrew McDavid,Ann C. McKee,M.-Marsel Mesulam,Bruce L. Miller,Carol A. Miller,Joshua W. Miller,Jill R. Murrell,Amanda J. Myers,Sid E. O'Bryant,John M Olichney,Vernon S. Pankratz,Joseph E. Parisi,Henry L. Paulson,William Perry,Elaine R. Peskind,Aimee Pierce,Wayne W. Poon,Huntington Potter,Joseph F. Quinn,Joseph F. Quinn,Ashok Raj,Murray A. Raskind,Barry Reisberg,Christiane Reitz,John M. Ringman,Erik D. Roberson,Ekaterina Rogaeva,Howard J. Rosen,Roger N. Rosenberg,Mark A. Sager,Andrew J. Saykin,Julie A. Schneider,Lon S. Schneider,William W. Seeley,Amanda Smith,Joshua A. Sonnen,Salvatore Spina,Robert S. Stern,Russell H. Swerdlow,Rudolph E. Tanzi,Tricia A. Thornton-Wells,John Q. Trojanowski,Juan C. Troncoso,Vivianna M. Van Deerlin,Linda J. Van Eldik,Harry V. Vinters,Jean Paul G. Vonsattel,Sandra Weintraub,Kathleen A. Welsh-Bohmer,Kirk C. Wilhelmsen,Jennifer Williamson,Thomas S. Wingo,Randall L. Woltjer,Clinton B. Wright,Chang En Yu,Lei Yu,Fabienne Garzia,Feroze Golamaully,Gislain Septier,Sebastien Engelborghs,Rik Vandenberghe,Peter Paul De Deyn,Carmen Muñoz Fernadez,Yoland Aladro Benito,Håkan Thonberg,Charlotte Forsell,Lena Lilius,Anne Kinhult-Ståhlbom,Lena Kilander,RoseMarie Brundin,Letizia Concari,Letizia Concari,Seppo Helisalmi,Anne M. Koivisto,Annakaisa Haapasalo,Vincent Dermecourt,Nathalie Fievet,Olivier Hanon,Carole Dufouil,Carole Dufouil,Alexis Brice,Alexis Brice,Karen Ritchie,Bruno Dubois,Bruno Dubois,Jayanadra J. Himali,C. Dirk Keene,JoAnn T. Tschanz,Annette L. Fitzpatrick,Walter A. Kukull,Maria C. Norton,Thor Aspelund,Eric B. Larson,Eric B. Larson,Ronald G. Munger,Jerome I. Rotter,Richard B. Lipton,María J. Bullido,María J. Bullido,Albert Hofman,Thomas J. Montine,Eliecer Coto,Eric Boerwinkle,Eric Boerwinkle,Ronald C. Petersen,Victoria Alvarez,Fernando Rivadeneira,Eric M. Reiman,Maura Gallo,Christopher J. O'Donnell,Joan S. Reisch,Amalia C. Bruni,Donald R. Royall,Martin Dichgans,Martin Dichgans,Mary Sano,Daniela Galimberti,Peter St George-Hyslop,Peter St George-Hyslop,Elio Scarpini,Debby W. Tsuang,Michelangelo Mancuso,Ubaldo Bonuccelli,Ashley R. Winslow,Antonio Daniele,Chuang Kuo Wu,Oliver Peters,Benedetta Nacmias,Matthias Riemenschneider,Reinhard Heun,Carol Brayne,David C. Rubinsztein,Jose Bras,Jose Bras,Rita Guerreiro,Rita Guerreiro,Ammar Al-Chalabi,Christopher Shaw,John Collinge,David G. Mann,David G. Mann,Jordi Clarimón,Rebecca Sussams,Simon Lovestone,Michael Conlon O'Donovan,Michael John Owen,Timothy W. Behrens,Simon Mead,André G. Uitterlinden,André G. Uitterlinden,Carlos Cruchaga,Martin Ingelsson,David A. Bennett,John Powell,Todd E. Golde,Caroline Graff,Philip L. De Jager,Kevin Morgan,Nilufer Ertekin-Taner,Onofre Combarros,Bruce M. Psaty,Peter Passmore,Steven G. Younkin,Claudine Berr,Vilmundur Gudnason,Dan Rujescu,Dennis W. Dickson,Jean-François Dartigues,Anita L. DeStefano,Anita L. DeStefano,Sara Ortega-Cubero,Hakon Hakonarson,Dominique Campion,Mercè Boada,John K Kauwe,Lindsay A. Farrer,Christine Van Broeckhoven,Christine Van Broeckhoven,M. Arfan Ikram,Lesley Jones,Jonathan L. Haines,Christophe Tzourio,Lenore J. Launer,Lenore J. Launer,Valentina Escott-Price,Richard Mayeux,Jean-François Deleuze,Najaf Amin,Alison Goate,Margaret A. Pericak-Vance,Peter Holmans,Cornelia M. van Duijn,Alfredo Ramirez,Alfredo Ramirez,Li-San Wang,Jean-Charles Lambert,Jean-Charles Lambert,Sudha Seshadri,Sudha Seshadri,Julie Williams,Gerard D. Schellenberg +487 more
TL;DR: Three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease are observed, providing additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's Disease.
Journal ArticleDOI
Frontotemporal dementia and its subtypes: a genome-wide association study
Raffaele Ferrari,Raffaele Ferrari,Dena G. Hernandez,Dena G. Hernandez,Mike A. Nalls,Jonathan D. Rohrer,Adaikalavan Ramasamy,Adaikalavan Ramasamy,John B.J. Kwok,John B.J. Kwok,Carol Dobson-Stone,Carol Dobson-Stone,William S. Brooks,William S. Brooks,Peter R. Schofield,Peter R. Schofield,Glenda M. Halliday,Glenda M. Halliday,John R. Hodges,John R. Hodges,Olivier Piguet,Olivier Piguet,Lauren Bartley,Elizabeth Thompson,Elizabeth Thompson,Eric Haan,Eric Haan,Isabel Hernández,Agustín Ruiz,Mercè Boada,Barbara Borroni,Alessandro Padovani,Carlos Cruchaga,Nigel J. Cairns,Luisa Benussi,Giuliano Binetti,Roberta Ghidoni,Gianluigi Forloni,Daniela Galimberti,Chiara Fenoglio,Maria Serpente,Elio Scarpini,Jordi Clarimón,Alberto Lleó,Rafael Blesa,Maria Landqvist Waldö,Karin Nilsson,Christer Nilsson,Ian R. A. Mackenzie,Ging-Yuek Robin Hsiung,David M. A. Mann,Jordan Grafman,Jordan Grafman,Jordan Grafman,Christopher Morris,Johannes Attems,Timothy D. Griffiths,Ian G. McKeith,Alan J. Thomas,Pietro Pietrini,Edward D. Huey,Eric M. Wassermann,Atik Baborie,Evelyn Jaros,Evelyn Jaros,Michael Tierney,Pau Pastor,Cristina Razquin,Sara Ortega-Cubero,Elena Alonso,Robert Perneczky,Robert Perneczky,Janine Diehl-Schmid,Panagiotis Alexopoulos,Alexander Kurz,Innocenzo Rainero,Elisa Rubino,Lorenzo Pinessi,Ekaterina Rogaeva,Peter St George-Hyslop,Peter St George-Hyslop,Giacomina Rossi,Fabrizio Tagliavini,Giorgio Giaccone,James B. Rowe,James B. Rowe,Johannes C. M. Schlachetzki,Johannes C. M. Schlachetzki,James Uphill,John Collinge,Simon Mead,Adrian Danek,Adrian Danek,Vivianna M. Van Deerlin,Murray Grossman,John Q. Trojanowski,Julie van der Zee,William Deschamps,Tim Van Langenhove,Marc Cruts,Christine Van Broeckhoven,Stefano F. Cappa,Isabelle Le Ber,Didier Hannequin,Véronique Golfier,Martine Vercelletto,Alexis Brice,Benedetta Nacmias,Sandro Sorbi,Silvia Bagnoli,Irene Piaceri,Jørgen E. Nielsen,Jørgen E. Nielsen,Lena E. Hjermind,Lena E. Hjermind,Matthias Riemenschneider,Manuel Mayhaus,Bernd Ibach,Gilles Gasparoni,Sabrina Pichler,Wei Gu,Wei Gu,Martin N. Rossor,Nick C. Fox,Jason D. Warren,Maria Grazia Spillantini,Huw R. Morris,Patrizia Rizzu,Peter Heutink,Julie S. Snowden,Sara Rollinson,Anna Richardson,Alexander Gerhard,Amalia C. Bruni,Raffaele Maletta,Francesca Frangipane,Chiara Cupidi,Livia Bernardi,Maria Anfossi,Maura Gallo,Maria Elena Conidi,Nicoletta Smirne,Rosa Rademakers,Matthew C. Baker,Dennis W. Dickson,Neill R. Graff-Radford,Ronald C. Petersen,David S. Knopman,Keith A. Josephs,Bradley F. Boeve,Joseph E. Parisi,William W. Seeley,Bruce L. Miller,Anna Karydas,Howard J. Rosen,John C. van Swieten,John C. van Swieten,Elise G.P. Dopper,Harro Seelaar,Yolande A.L. Pijnenburg,Philip Scheltens,Giancarlo Logroscino,Rosa Capozzo,Valeria Novelli,Annibale Alessandro Puca,Massimo Franceschi,Alfredo Postiglione,Graziella Milan,Paolo Sorrentino,Mark Kristiansen,Huei-Hsin Chiang,Caroline Graff,Florence Pasquier,Adeline Rollin,Vincent Deramecourt,Florence Lebert,Dimitrios Kapogiannis,Luigi Ferrucci,Stuart Pickering-Brown,Andrew B. Singleton,John Hardy,Parastoo Momeni +181 more
TL;DR: The findings suggest that immune system processes (link to 6p21.3) and possibly lysosomal and autophagy pathways ( link to 11q14) are potentially involved in FTD.
Journal ArticleDOI
A novel Alzheimer disease locus located near the gene encoding tau protein
Gyungah Jun,Carla A. Ibrahim-Verbaas,Maria Vronskaya,J-C Lambert,J-C Lambert,J-C Lambert,Jaeyoon Chung,Adam C. Naj,Brian W. Kunkle,L-S Wang,J. C. Bis,Céline Bellenguez,Céline Bellenguez,Céline Bellenguez,Denise Harold,K. L. Lunetta,Anita L. DeStefano,Benjamin Grenier-Boley,Benjamin Grenier-Boley,Benjamin Grenier-Boley,Rebecca Sims,Gary W. Beecham,Albert V. Smith,Vincent Chouraki,Kara L. Hamilton-Nelson,M. A. Ikram,Nathalie Fievet,Nathalie Fievet,Nathalie Fievet,Nicola Denning,Eden R. Martin,Helena Schmidt,Yoichiro Kamatani,Melanie L. Dunstan,Otto Valladares,A R Laza,Diana Zelenika,Alfredo Ramirez,Tatiana Foroud,S-H Choi,Anne Boland,Tim Becker,Tim Becker,Walter A. Kukull,S. J. van der Lee,Florence Pasquier,C. Cruchaga,Duane Beekly,Annette L. Fitzpatrick,O. Hanon,Michael Gill,Robert Barber,Vilmundur Gudnason,D. Campion,Seth Love,David A. Bennett,Najaf Amin,Claudine Berr,Magda Tsolaki,Joseph D. Buxbaum,O. L. Lopez,Vincent Deramecourt,Nick C. Fox,Laura B. Cantwell,L. Tárraga,Carole Dufouil,J. Hardy,J. Hardy,Paul K. Crane,G. Eiriksdottir,Didier Hannequin,Robert Clarke,Denis A. Evans,Thomas H. Mosley,Luc Letenneur,Carol Brayne,W. Maier,W. Maier,P. L. De Jager,P. L. De Jager,P. L. De Jager,Valur Emilsson,J. F. Dartigues,J. F. Dartigues,Harald Hampel,Harald Hampel,Kamboh Mi,R. F. A. G. de Bruijn,Christophe Tzourio,Pau Pastor,Eric B. Larson,Eric B. Larson,Jerome I. Rotter,Michael Conlon O'Donovan,Thomas J. Montine,M. A. Nalls,Simon Mead,Eric M. Reiman,Palmi V. Jonsson,Clive Holmes,PH St George-Hyslop,PH St George-Hyslop,Mercè Boada,Peter Passmore,Jens R. Wendland,Reinhold Schmidt,Kevin Morgan,Ashley R. Winslow,John Powell,M. Carasquillo,Steven G. Younkin,Johanna Jakobsdottir,John K Kauwe,Kirk C. Wilhelmsen,Dan Rujescu,Markus M. Nöthen,Albert Hofman,Lesley Jones,Perrie M. Adams,Marilyn S. Albert,Marilyn S. Albert,Roger L Albin,Liana G. Apostolova,Steven E. Arnold,Sanjay Asthana,Craig S. Atwood,Clinton T Baldwin,Michjael M. Barmada,Lisa L. Barnes,Thomas G. Beach,James T. Becker,James T. Becker,Eileen H. Bigio,Thomas D Bird,Deborah Blacker,Bradley F. Boeve,James Bowen,A. Boxer,James R. Burke,Nigel J. Cairns,Chuanhai Cao,Christopher S. Carlson,Cynthia M. Carlsson,Regina M. Carney,Minerva M. Carrasquillo,Steven L. Carroll,Helena C. Chui,David G. Clark,Jason J. Corneveaux,David H. Cribbs,Elizabeth Crocco,Carlos Cruchaga,Philip L. De Jager,Philip L. De Jager,Philip L. De Jager,Charles DeCarli,Steven T. DeKosky,F. Yesim Demirci,Malcolm B. Dick,Dennis W. Dickson,Rachelle S. Doody,Ranjan Duara,Nilufer Ertekin-Taner,Kelley Faber,Thomas Fairchild,Kenneth B. Fallon,Martin R. Farlow,Steven H. Ferris,Matthew P. Frosch,Douglas Galasko,Marla Gearing,Daniel H. Geschwind,Bernardino Ghetti,John R. Gilbert,Jonathan D. Glass,Neill R. Graff-Radford,Robert C. Green,John H. Growdon,Hakon Hakonarson,Ronald L. Hamilton,John Hardy,John Hardy,Lindy E. Harrell,Elizabeth Head,Lawrence S. Honig,Ryan M. Huebinger,Matthew J. Huentelman,Christine M. Hulette,Bradley T. Hyman,Gail P. Jarvik,Gregory A. Jicha,Lee-Way Jin,Anna Karydas,John S. K. Kauwe,Jeffrey Kaye,Ronald C. Kim,Edward H. Koo,Neil W. Kowall,Joel H. Kramer,Frank M. LaFerla,James J. Lah,James B. Leverenz,Allan I. Levey,Ge Li,Andrew P. Lieberman,Chiao-Feng Lin,Oscar L. Lopez,Constantine G. Lyketsos,Wendy J. Mack,Daniel C. Marson,Frank Martiniuk,Deborah C. Mash,Eliezer Masliah,Wayne C. McCormick,Susan M. McCurry,Andrew McDavid,Ann C. McKee,M.-Marsel Mesulam,Bruce L. Miller,Carol A. Miller,Joshua W. Miller,John C. Morris,Shubhabrata Mukherjee,Jill R. Murrell,Amanda J. Myers,Sid E. O'Bryant,John M Olichney,Vernon S. Pankratz,Joseph E. Parisi,Amanda Partch,Henry L. Paulson,William Perry,Elaine R. Peskind,Ronald C. Petersen,Aimee Pierce,Wayne W. Poon,Huntington Potter,Joseph F. Quinn,Ashok Raj,Murray A. Raskind,Barry Reisberg,Joan S. Reisch,Christiane Reitz,John M. Ringman,Erik D. Roberson,Ekaterina Rogaeva,Howard J. Rosen,Roger N. Rosenberg,Donald R. Royall,Mark A. Sager,Mary Sano,Andrew J. Saykin,Julie A. Schneider,Lon S. Schneider,William W. Seeley,Amanda G. Smith,Joshua A. Sonnen,Salvatore Spina,Robert S. Stern,Rudolph E. Tanzi,Tricia A. Thornton-Wells,John Q. Trojanowski,Juan C. Troncoso,Debby W. Tsuang,Vivianna M. Van Deerlin,Linda J. Van Eldik,Badri N. Vardarajan,Harry V. Vinters,Jean Paul Vonsattel,Sandra Weintraub,Kathleen A. Welsh-Bohmer,Jennifer Williamson,Sarah Wishnek,Randall L. Woltjer,Clinton B. Wright,Chuang-Kuo Wu,Chang En Yu,Lei Yu,Rhoda Au,Philip A. Wolf,Alexa S. Beiser,Claudia L. Satizabal,André G. Uitterlinden,Fernando Rivadeneira,Peter J. Koudstaal,William T. Longstreth,Lewis H. Kuller,Thomas Lumley,Kenneth Rice,Tamara B. Harris,Mike A. Nalls,Josef Marksteiner,Peter Dal-Bianco,Anna Maria Töglhofer,Paul Freudenberger,Gerhard Ransmayr,Thomas Benke,Anna Maria Toeglhofer,Eric Boerwinkle,Jan Bressler,Myriam Fornage,Francisco J. Morón,Isabel Hernández,Maitee Rosende Roca,Ana Mauleón,Montserrat Alegret,Reposo Ramírez-Lorca,Antonio González-Pérez,Annick Alpérovitch,Victoria Alvarez,Pascale Barberger-Gateau,Karolien Bettens,Paola Bossù,Alexis Brice,María J. Bullido,Paolo Caffara,Jordi Clarimón,Onofre Combarros,Eliecer Coto,Maria del Zampo,Marc Delepine,Maria Candida Deniz Naranjo,Jacques Epelbaum,Laura Fratiglioni,Daniela Galimberti,Caroline Graff,Mikko Hiltunen,Martin Ingelsson,Lina Keller,Lars Lannfelt,Alberto Lleó,Michelangelo Mancuso,Ignacio Mateo,Patrizia Mecocci,Benedetta Nacmias,Francesco Panza,Alberto Pilotto,Florentino Sanchez Garcia,Elio Scarpini,Davide Seripa,Kristel Sleegers,Hlikka Soininen,Sandro Sorbi,Gianfranco Spalletta,David Wallon,Charlene Thomas,Amy Gerrish,Jade Chapman,Alexandra Stretton,Angharad R. Morgan,Harriet Oldham,Michael John Owen,Patrick G. Kehoe,Christopher Medway,Kristelle Brown,Jenny Lord,James Turton,Nigel M. Hooper,Emma R.L.C. Vardy,Jason D. Warren,Jonathan M. Schott,James Uphill,Paul Hollingworth,DClin Psy,Natalie S. Ryan,Martin N. Rossor,John Collinge,Yoav Ben-Shlomo,Daniilidou Makrina,Olymbia Gkatzima,Michelle K. Lupton,Maria Koutroumani,Despoina Avramidou,Antonia Germanou,Frank Jessen,Steffi G. Riedel-Heller,Martin Dichgans,R. Heun,Heike Kölsch,Britta Schürmann,Christine Herold,André Lacour,Dmitriy Drichel,Per Hoffmann,Johannes Kornhuber,Wei Gu,T. Feulner,Manuel Mayhaus,Sabrina Pichler,Matthias Riemenschneider,Hendrik van den Bussche,Brian A. Lawlor,Aoibhinn Lynch,David M. A. Mann,A. David Smith,Donald Warden,Gordon K. Wilcock,Isabella Heuser,Jens Wiltfang,Lutz Frölich,Michael Hüll,Kevin H. Mayo,Gill Livingston,Nicholas Bass,Hugh Gurling,Andrew McQuillin,Rhian Gwilliam,Panagiotis Deloukas,Ammar Al-Chalabi,Christopher Shaw,Andrew B. Singleton,Rita Guerreiro,Giancarlo Russo,Karl-Heinz Jöckel,Susanne Moebus,Norman Klopp,H-Erich Wichmann,Li Ma,Gina Bisceglio,Elizabeth M. C. Fisher,Nick Warner,Stuart Pickering-Brown,David Craig,Janet A. Johnston,Bernadette McGuinness,Stephen Todd,David C. Rubinsztein,Simon Lovestone,Anthony Bayer,John Gallacher,Petroula Proitsi,Sara Ortega-Cubero,Jonathan L. Haines,Bruce M. Psaty,Bruce M. Psaty,C. Van Broeckhoven,Peter Holmans,L. J. Launer,Richard Mayeux,Mark Lathrop,Alison Goate,Valentina Escott-Price,Sudha Seshadri,Margaret A. Pericak-Vance,P. Amouyel,P. Amouyel,P. Amouyel,Julie Williams,C M van Duijn,Gerard D. Schellenberg,Lindsay A. Farrer +450 more
TL;DR: The authors' APOE-stratified GWAS is the first to show GWS association for AD with SNPs in the chromosome 17q21.31 region, and the finding in the stage 1 sample that AD risk is significantly influenced by the interaction of APOE with TMEM106B (P=1·6 × 10−7) is noteworthy, because TMEM 106B variants have previously been associated with risk of frontotemporal dementia.
Journal ArticleDOI
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of Dementia with Lewy Bodies.
Jose Bras,Rita Guerreiro,Lee Darwent,Laura Parkkinen,Olaf Ansorge,Valentina Escott-Price,Dena G. Hernandez,Mike A. Nalls,Lorraine N. Clark,Lawrence S. Honig,Karen Marder,Wiesje M. van der Flier,Afina W. Lemstra,Philip Scheltens,Ekaterina Rogaeva,Peter St George-Hyslop,Peter St George-Hyslop,Elisabet Londos,Henrik Zetterberg,Sara Ortega-Cubero,Sara Ortega-Cubero,Pau Pastor,Pau Pastor,Tanis J. Ferman,Neill R. Graff-Radford,Owen A. Ross,Imelda Barber,Anne Braae,Kristelle Brown,Kevin Morgan,Walter Maetzler,Daniela Berg,Claire Troakes,Safa Al-Sarraj,Tammaryn Lashley,Yaroslau Compta,Tamas Revesz,Andrew J. Lees,Nigel J. Cairns,Glenda M. Halliday,Glenda M. Halliday,David M. A. Mann,Stuart Pickering-Brown,Dennis W. Dickson,Andrew B. Singleton,John Hardy +45 more
TL;DR: It is indicated that DLB has a unique genetic risk profile when compared with the two most common neurodegenerative diseases and that the lysosome may play an important role in the etiology of this disorder.
Journal ArticleDOI
Automated neuromelanin imaging as a diagnostic biomarker for Parkinson's disease
Gabriel Castellanos,Gabriel Castellanos,María A. Fernández-Seara,María A. Fernández-Seara,Oswaldo Lorenzo-Betancor,Oswaldo Lorenzo-Betancor,Sara Ortega-Cubero,Sara Ortega-Cubero,Marc Puigvert,Javier Uranga,Marta Vidorreta,Jaione Irigoyen,Elena Lorenzo,Arrate Muñoz-Barrutia,Arrate Muñoz-Barrutia,Carlos Ortiz-de-Solorzano,Pau Pastor,Maria A. Pastor,Maria A. Pastor +18 more
TL;DR: The diagnostic accuracy of an automated segmentation and quantification method of the SNc and locus coeruleus volumes based on neuromelanin‐sensitive MRI (NM‐MRI) in patients with idiopathic and monogenic Parkinson's disease is analyzed.