Victoria Alvarez

Victoria Alvarez

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Victoria Alvarez

Victoria Alvarez

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Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gennady Roshchupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul 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 Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 Aug 15. Epub 2019 Aug 15.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1038/s41588-019-0495-7DOI Listing
August 2019

HTT gene intermediate alleles in neurodegeneration: evidence for association with Alzheimer's disease.

Neurobiol Aging 2019 04 28;76:215.e9-215.e14. Epub 2018 Nov 28.

Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain; Department of Neurology, Hospital Universitario de Cabueñes, Gijón, Spain.

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.11.014DOI Listing
April 2019

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gennady Roshchupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul 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 Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 03 28;51(3):414-430. Epub 2019 Feb 28.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1038/s41588-019-0358-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463297PMC
March 2019

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Authors:
Rebecca Sims Sven J van der Lee Adam C Naj Céline Bellenguez Nandini Badarinarayan Johanna Jakobsdottir Brian W Kunkle Anne Boland Rachel Raybould Joshua C Bis Eden R Martin Benjamin Grenier-Boley Stefanie Heilmann-Heimbach Vincent Chouraki Amanda B Kuzma Kristel Sleegers Maria Vronskaya Agustin Ruiz Robert R Graham Robert Olaso Per Hoffmann Megan L Grove Badri N Vardarajan Mikko Hiltunen Markus M Nöthen Charles C White Kara L Hamilton-Nelson Jacques Epelbaum Wolfgang Maier Seung-Hoan Choi Gary W Beecham Cécile Dulary Stefan Herms Albert V Smith Cory C Funk Céline Derbois Andreas J Forstner Shahzad Ahmad Hongdong Li Delphine Bacq Denise Harold 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 Dombroski David Wallon Michelle K Lupton Josée Dupuis Patrice Whitehead 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 Adams Mariet Allen Davide Seripa Pau Pastor L Adrienne Cupples Nathan D Price Didier Hannequin Ana Frank-García Daniel Levy Paramita Chakrabarty Paolo Caffarra Ina Giegling Alexa S Beiser Vilmantas Giedraitis Harald Hampel Melissa E Garcia Xue Wang Lars Lannfelt Patrizia Mecocci Gudny Eiriksdottir Paul K Crane Florence Pasquier Virginia Boccardi Isabel Henández Robert C Barber Martin Scherer Lluis Tarraga Perrie M Adams Markus Leber Yuning Chen Marilyn S Albert Steffi 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 J Fairchild Paola Bossù Oscar L Lopez Matthew P Frosch Eleonora Sacchinelli Bernardino Ghetti Qiong Yang Ryan M Huebinger Frank Jessen Shuo Li M Ilyas Kamboh John Morris Oscar Sotolongo-Grau Mindy J Katz Chris Corcoran Melanie Dunstan Amy Braddel Charlene Thomas Alun Meggy Rachel Marshall Amy Gerrish Jade Chapman Miquel Aguilar Sarah Taylor Matt Hill Mònica Díez Fairén Angela Hodges Bruno Vellas Hilkka Soininen Iwona Kloszewska 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 S Barber Keeley Brookes Chiara Cupidi Raffaele Giovanni Maletta David Carrell Sandro Sorbi Susanne Moebus Maria Urbano Alberto Pilotto Johannes Kornhuber Paolo Bosco Stephen Todd David Craig Janet Johnston Michael Gill Brian Lawlor Aoibhinn Lynch Nick C Fox John Hardy Roger L Albin 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 D Bowen Adam Boxer James R Burke Jeffrey M Burns Joseph D Buxbaum Nigel J Cairns Chuanhai Cao Chris S Carlson Cynthia M Carlsson Regina M Carney Minerva M Carrasquillo Steven L Carroll Carolina Ceballos Diaz Helena C Chui David G Clark David H Cribbs Elizabeth A Crocco Charles DeCarli Malcolm Dick Ranjan Duara Denis A Evans Kelley M Faber Kenneth B Fallon David W Fardo Martin R Farlow Steven Ferris Tatiana M Foroud Douglas R 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 Abner Lee-Way Jin Gyungah Jun Anna Karydas Jeffrey A Kaye Ronald 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 N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller John C Morris Jill R Murrell Amanda J Myers Sid O'Bryant John M Olichney Vernon S Pankratz Joseph E Parisi Henry L Paulson William Perry Elaine Peskind Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray 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 G Smith Joshua A Sonnen Salvatore Spina Robert A 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 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 P De Deyn Carmen Muñoz Fernadez Yoland Aladro Benito Hakan Thonberg Charlotte Forsell Lena Lilius Anne Kinhult-Stählbom Lena Kilander RoseMarie Brundin Letizia Concari Seppo Helisalmi Anne Maria Koivisto Annakaisa Haapasalo Vincent Dermecourt Nathalie Fievet Olivier Hanon Carole Dufouil Alexis Brice Karen Ritchie Bruno Dubois Jayanadra J Himali C Dirk Keene JoAnn Tschanz Annette L Fitzpatrick Walter A Kukull Maria Norton Thor Aspelund Eric B Larson Ron Munger Jerome I Rotter Richard B Lipton María J Bullido Albert Hofman Thomas J Montine Eliecer Coto Eric Boerwinkle Ronald C Petersen Victoria Alvarez Fernando Rivadeneira Eric M Reiman Maura Gallo Christopher J O'Donnell Joan S Reisch Amalia Cecilia Bruni Donald R Royall Martin Dichgans Mary Sano Daniela Galimberti 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 Rita Guerreiro Ammar Al-Chalabi Christopher E Shaw John Collinge David Mann Magda Tsolaki Jordi Clarimón Rebecca Sussams Simon Lovestone Michael C O'Donovan Michael J Owen Timothy W Behrens Simon Mead Alison M Goate Andre G Uitterlinden Clive Holmes 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 Sara Ortega-Cubero Hakon Hakonarson Dominique Campion Merce Boada John Keoni Kauwe Lindsay A Farrer Christine Van Broeckhoven M Arfan Ikram Lesley Jones Jonathan L Haines Christophe Tzourio Lenore J Launer Valentina Escott-Price Richard Mayeux Jean-François Deleuze Najaf Amin Peter A Holmans Margaret A Pericak-Vance Philippe Amouyel Cornelia M van Duijn Alfredo Ramirez Li-San Wang Jean-Charles Lambert Sudha Seshadri Julie Williams Gerard D Schellenberg

Nat Genet 2017 09 17;49(9):1373-1384. Epub 2017 Jul 17.

Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/ng.3916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669039PMC
September 2017

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Mol Neurobiol 2017 07 6;54(5):3906-3910. Epub 2016 Dec 6.

Dermatology Department, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.

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http://dx.doi.org/10.1007/s12035-016-0305-5DOI Listing
July 2017

Screening of the Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

Circ Cardiovasc Genet 2017 Apr;10(2)

From the Unidad de Referencia de Cardiopatías Familiares-HUCA, Genética Molecular y Cardiología, Hospital Universitario Central Asturias, Oviedo, Spain (J.G., R.L., J.R.R., C.M., M.M., B.A., S.I., V.A., B.D.-M., P.A., E.C.); Fundación Asturcor, Spain (J.R.R., C.M.); Departamento de Medicina, Universidad de Oviedo, Spain (C.M., E.C.); Centro Salud El Cristo, Oviedo, Spain (S.T.); and Red de Investigación Renal (REDINREN), Madrid, Spain (E.C.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001584DOI Listing
April 2017

KCNQ1 gene variants in the risk for type 2 diabetes and impaired renal function in the Spanish Renastur cohort.

Mol Cell Endocrinol 2016 May 9;427:86-91. Epub 2016 Mar 9.

Genética Molecular-Laboratorio Medicina, HUCA, Oviedo, Spain; Universidad de Oviedo, Oviedo, Spain; Red investigacion renal (REDINREN), Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mce.2016.03.007DOI Listing
May 2016

Assessing the role of TUBA4A gene in frontotemporal degeneration.

Neurobiol Aging 2016 Feb 5;38:215.e13-215.e14. Epub 2015 Nov 5.

Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.10.030DOI Listing
February 2016

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

Authors:
Valentina Escott-Price Céline Bellenguez Li-San Wang Seung-Hoan Choi Denise Harold Lesley Jones Peter Holmans Amy Gerrish Alexey Vedernikov Alexander Richards Anita L DeStefano Jean-Charles Lambert Carla A Ibrahim-Verbaas Adam C Naj Rebecca Sims Gyungah Jun Joshua C Bis Gary W Beecham Benjamin Grenier-Boley Giancarlo Russo Tricia A Thornton-Wells Nicola Denning Albert V Smith Vincent Chouraki Charlene Thomas M Arfan Ikram Diana Zelenika Badri N Vardarajan Yoichiro Kamatani Chiao-Feng Lin Helena Schmidt Brian Kunkle Melanie L Dunstan Maria Vronskaya Andrew D Johnson Agustin Ruiz Marie-Thérèse Bihoreau Christiane Reitz Florence Pasquier Paul Hollingworth Olivier Hanon Annette L Fitzpatrick Joseph D Buxbaum Dominique Campion Paul K Crane Clinton Baldwin Tim Becker Vilmundur Gudnason Carlos Cruchaga David Craig Najaf Amin Claudine Berr Oscar L Lopez Philip L De Jager Vincent Deramecourt Janet A Johnston Denis Evans Simon Lovestone Luc Letenneur Isabel Hernández David C Rubinsztein Gudny Eiriksdottir Kristel Sleegers Alison M Goate Nathalie Fiévet Matthew J Huentelman Michael Gill Kristelle Brown M Ilyas Kamboh Lina Keller Pascale Barberger-Gateau Bernadette McGuinness Eric B Larson Amanda J Myers Carole Dufouil Stephen Todd David Wallon Seth Love Ekaterina Rogaeva John Gallacher Peter St George-Hyslop Jordi Clarimon Alberto Lleo Anthony Bayer Debby W Tsuang Lei Yu Magda Tsolaki Paola Bossù Gianfranco Spalletta Petra Proitsi John Collinge Sandro Sorbi Florentino Sanchez Garcia Nick C Fox John Hardy Maria Candida Deniz Naranjo Paolo Bosco Robert Clarke Carol Brayne Daniela Galimberti Elio Scarpini Ubaldo Bonuccelli Michelangelo Mancuso Gabriele Siciliano Susanne Moebus Patrizia Mecocci Maria Del Zompo Wolfgang Maier Harald Hampel Alberto Pilotto Ana Frank-García Francesco Panza Vincenzo Solfrizzi Paolo Caffarra Benedetta Nacmias William Perry Manuel Mayhaus Lars Lannfelt Hakon Hakonarson Sabrina Pichler Minerva M Carrasquillo Martin Ingelsson Duane Beekly Victoria Alvarez Fanggeng Zou Otto Valladares Steven G Younkin Eliecer Coto Kara L Hamilton-Nelson Wei Gu Cristina Razquin Pau Pastor Ignacio Mateo Michael J Owen Kelley M Faber Palmi V Jonsson Onofre Combarros Michael C O'Donovan Laura B Cantwell Hilkka Soininen Deborah Blacker Simon Mead Thomas H Mosley David A Bennett Tamara B Harris Laura Fratiglioni Clive Holmes Renee F A G de Bruijn Peter Passmore Thomas J Montine Karolien Bettens Jerome I Rotter Alexis Brice Kevin Morgan Tatiana M Foroud Walter A Kukull Didier Hannequin John F Powell Michael A Nalls Karen Ritchie Kathryn L Lunetta John S K Kauwe Eric Boerwinkle Matthias Riemenschneider Mercè Boada Mikko Hiltunen Eden R Martin Reinhold Schmidt Dan Rujescu Jean-François Dartigues Richard Mayeux Christophe Tzourio Albert Hofman Markus M Nöthen Caroline Graff Bruce M Psaty Jonathan L Haines Mark Lathrop Margaret A Pericak-Vance Lenore J Launer Christine Van Broeckhoven Lindsay A Farrer Cornelia M van Duijn Alfredo Ramirez Sudha Seshadri Gerard D Schellenberg Philippe Amouyel Julie Williams

PLoS One 2014 12;9(6):e94661. Epub 2014 Jun 12.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4055488PMC
October 2015

Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.

Circ J 2014 22;78(12):2963-71. Epub 2014 Oct 22.

Molecular Genetics Dept-Laboratory of Medicine-Renal Foundation (IRSIN-FRIAT), Hospital Central Asturias.

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http://dx.doi.org/10.1253/circj.cj-14-0628DOI Listing
July 2015

A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.

Gene 2015 Apr 17;561(1):165-9. Epub 2015 Feb 17.

Genética-Laboratorio de Medicina, Hospital Universitario Central Asturias, Oviedo, Spain; Departamento de Medicina, Universidad de Oviedo, Oviedo, Spain; Red de Investigación Renal (REDINREN), Madrid, Spain; Fundación Renal I. Alvarez de Toledo, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.02.040DOI Listing
April 2015

MiRNA profile in the substantia nigra of Parkinson's disease and healthy subjects.

J Mol Neurosci 2014 Dec 5;54(4):830-6. Epub 2014 Oct 5.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, 33006, Oviedo, Spain.

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http://link.springer.com/content/pdf/10.1007/s12031-014-0428
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http://dx.doi.org/10.1007/s12031-014-0428-yDOI Listing
December 2014

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.

Nat Commun 2014 Oct 29;5:5326. Epub 2014 Oct 29.

Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología-IUOPA, Universidad de Oviedo, 33006 Oviedo, Spain.

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http://dx.doi.org/10.1038/ncomms6326DOI Listing
October 2014

A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients.

J Hum Genet 2014 Jul 15;59(7):376-80. Epub 2014 May 15.

1] Genética Molecular-Laboratorio de Medicina-Fundación Renal (IRSIN-FRIAT), Hospital Universitario Central Asturias, Oviedo, Spain [2] Departamento de Medicina, Universidad de Oviedo, Oviedo, Spain [3] Red de Investigación Renal (REDINREN), Madrid, Spain.

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http://dx.doi.org/10.1038/jhg.2014.37DOI Listing
July 2014

The screening of the 3'UTR sequence of LRRK2 identified an association between the rs66737902 polymorphism and Parkinson's disease.

J Hum Genet 2014 Jun 24;59(6):346-8. Epub 2014 Apr 24.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1038/jhg.2014.26DOI Listing
June 2014

Alpha-synuclein transcript isoforms in three different brain regions from Parkinson's disease and healthy subjects in relation to the SNCA rs356165/rs11931074 polymorphisms.

Neurosci Lett 2014 Mar 10;562:45-9. Epub 2014 Jan 10.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neulet.2014.01.009DOI Listing
March 2014

Non optical semi-conductor next generation sequencing of the main cardiac QT-interval duration genes in pooled DNA samples.

J Cardiovasc Transl Res 2014 Feb 5;7(1):133-7. Epub 2013 Nov 5.

Genética Molecular-Laboratorio de Medicina-Fundación Renal (IRSIN-FRIAT), Hospital Universitario Central Asturias, 33006, Oviedo, Spain.

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http://link.springer.com/content/pdf/10.1007/s12265-013-9516
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http://link.springer.com/10.1007/s12265-013-9516-6
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http://dx.doi.org/10.1007/s12265-013-9516-6DOI Listing
February 2014

No differential DNA methylation of PARK2 in brain of Parkinson's disease patients and healthy controls.

Mov Disord 2013 Dec 18;28(14):2032-3. Epub 2013 Jul 18.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1002/mds.25593DOI Listing
December 2013

The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain).

Int J Cardiol 2013 Oct 17;168(4):4555-6. Epub 2013 Jul 17.

Cardiología-Fundación Asturcor, Hospital Universitario Central Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1016/j.ijcard.2013.06.085DOI Listing
October 2013

A search for new CYP3A4 variants as determinants of tacrolimus dose requirements in renal-transplanted patients.

Pharmacogenet Genomics 2013 Aug;23(8):445-8

Molecular Genetics-Laboratory of Medicine, Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain.

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http://dx.doi.org/10.1097/FPC.0b013e3283636856DOI Listing
August 2013

A Common Polymorphism Is an Independent Risk Factor for Reduced Glomerular Filtration Rate in the Spanish RENASTUR Cohort.

Cardiorenal Med 2013 Jul 16;3(2):113-119. Epub 2013 May 16.

Genética Molecular-Laboratorio Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain ; Fundación Renal and Red de Investigación Renal (REDinREN), Madrid, Spain.

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http://dx.doi.org/10.1159/000351158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721126PMC
July 2013

Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.

J Mol Diagn 2012 Sep 2;14(5):518-24. Epub 2012 Jul 2.

Molecular Genetics-Laboratory of Medicine-Renal Foundation (IRSIN-FRIAT), University Central Hospital Asturias (HUCA), Oviedo, Spain.

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http://dx.doi.org/10.1016/j.jmoldx.2012.04.001DOI Listing
September 2012

A search for SNCA 3' UTR variants identified SNP rs356165 as a determinant of disease risk and onset age in Parkinson's disease.

J Mol Neurosci 2012 Jul 11;47(3):425-30. Epub 2011 Nov 11.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, 33006, Oviedo, Spain.

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http://dx.doi.org/10.1007/s12031-011-9669-1DOI Listing
July 2012

Common European mitochondrial haplogroups in the risk for psoriasis and psoriatic arthritis.

Genet Test Mol Biomarkers 2012 Jun 22;16(6):621-3. Epub 2011 Dec 22.

Dermatología II, Hospital Universitario Central Asturias (HUCA), Oviedo, Spain.

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http://dx.doi.org/10.1089/gtmb.2011.0266DOI Listing
June 2012

Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.

J Neurol 2012 Feb 2;259(2):246-50. Epub 2011 Jul 2.

Laboratory of Molecular Genetics, Laboratory of Medicine, Hospital Universitario Central de Asturias, 33006, Oviedo, Spain.

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http://dx.doi.org/10.1007/s00415-011-6155-1DOI Listing
February 2012

Amyloid precursor protein gene (APP) variation in late-onset Alzheimer's disease.

J Mol Neurosci 2011 Sep 22;45(1):5-9. Epub 2011 Mar 22.

Genética Molecular, Hospital Universitario Central Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1007/s12031-011-9510-xDOI Listing
September 2011

The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.

J Alzheimers Dis 2010 ;22(1):247-55

Unité INSERM 744, Institut Pasteur de Lille BP 245,1, rue du professeur Calmette, F59019Lille cedex, France.

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http://dx.doi.org/10.3233/JAD-2010-100933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964875PMC
August 2011

Influence of endothelial nitric oxide synthase polymorphisms in psoriasis risk.

Arch Dermatol Res 2011 Aug 4;303(6):445-9. Epub 2011 Feb 4.

Dermatology II Department, University Hospital Central of Asturias (HUCA), 33007, Oviedo, Spain.

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http://dx.doi.org/10.1007/s00403-011-1129-9DOI Listing
August 2011

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.

Authors:
Paul Hollingworth Denise Harold Rebecca Sims Amy Gerrish Jean-Charles Lambert Minerva M Carrasquillo Richard Abraham Marian L Hamshere Jaspreet Singh Pahwa Valentina Moskvina Kimberley Dowzell Nicola Jones Alexandra Stretton Charlene Thomas Alex Richards Dobril Ivanov Caroline Widdowson Jade Chapman Simon Lovestone John Powell Petroula Proitsi Michelle K Lupton Carol Brayne David C Rubinsztein Michael Gill Brian Lawlor Aoibhinn Lynch Kristelle S Brown Peter A Passmore David Craig Bernadette McGuinness Stephen Todd Clive Holmes David Mann A David Smith Helen Beaumont Donald Warden Gordon Wilcock Seth Love Patrick G Kehoe Nigel M Hooper Emma R L C Vardy John Hardy Simon Mead Nick C Fox Martin Rossor John Collinge Wolfgang Maier Frank Jessen Eckart Rüther Britta Schürmann Reiner Heun Heike Kölsch Hendrik van den Bussche Isabella Heuser Johannes Kornhuber Jens Wiltfang Martin Dichgans Lutz Frölich Harald Hampel John Gallacher Michael Hüll Dan Rujescu Ina Giegling Alison M Goate John S K Kauwe Carlos Cruchaga Petra Nowotny John C Morris Kevin Mayo Kristel Sleegers Karolien Bettens Sebastiaan Engelborghs Peter P De Deyn Christine Van Broeckhoven Gill Livingston Nicholas J Bass Hugh Gurling Andrew McQuillin Rhian Gwilliam Panagiotis Deloukas Ammar Al-Chalabi Christopher E Shaw Magda Tsolaki Andrew B Singleton Rita Guerreiro Thomas W Mühleisen Markus M Nöthen Susanne Moebus Karl-Heinz Jöckel Norman Klopp H-Erich Wichmann V Shane Pankratz Sigrid B Sando Jan O Aasly Maria Barcikowska Zbigniew K Wszolek Dennis W Dickson Neill R Graff-Radford Ronald C Petersen Cornelia M van Duijn Monique M B Breteler M Arfan Ikram Anita L DeStefano Annette L Fitzpatrick Oscar Lopez Lenore J Launer Sudha Seshadri Claudine Berr Dominique Campion Jacques Epelbaum Jean-François Dartigues Christophe Tzourio Annick Alpérovitch Mark Lathrop Thomas M Feulner Patricia Friedrich Caterina Riehle Michael Krawczak Stefan Schreiber Manuel Mayhaus S Nicolhaus Stefan Wagenpfeil Stacy Steinberg Hreinn Stefansson Kari Stefansson Jon Snaedal Sigurbjörn Björnsson Palmi V Jonsson Vincent Chouraki Benjamin Genier-Boley Mikko Hiltunen Hilkka Soininen Onofre Combarros Diana Zelenika Marc Delepine Maria J Bullido Florence Pasquier Ignacio Mateo Ana Frank-Garcia Elisa Porcellini Olivier Hanon Eliecer Coto Victoria Alvarez Paolo Bosco Gabriele Siciliano Michelangelo Mancuso Francesco Panza Vincenzo Solfrizzi Benedetta Nacmias Sandro Sorbi Paola Bossù Paola Piccardi Beatrice Arosio Giorgio Annoni Davide Seripa Alberto Pilotto Elio Scarpini Daniela Galimberti Alexis Brice Didier Hannequin Federico Licastro Lesley Jones Peter A Holmans Thorlakur Jonsson Matthias Riemenschneider Kevin Morgan Steven G Younkin Michael J Owen Michael O'Donovan Philippe Amouyel Julie Williams

Nat Genet 2011 May 3;43(5):429-35. Epub 2011 Apr 3.

Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Neurosciences and Mental Health Research Institute, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1038/ng.803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084173PMC
May 2011

New psoriasis susceptibility genes: momentum for skin-barrier disruption.

J Invest Dermatol 2011 May;131(5):1003-5

Genética Molecular, Hospital Universitario Central Asturias-Servicio de Salud del Principado de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1038/jid.2011.14DOI Listing
May 2011

Analysis of the Micro-RNA-133 and PITX3 genes in Parkinson's disease.

Am J Med Genet B Neuropsychiatr Genet 2010 Sep;153B(6):1234-9

Genética Molecular, Hospital Universitario Central de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1002/ajmg.b.31086DOI Listing
September 2010

Interactions between functional serotonergic polymorphisms and demographic factors influence personality traits in healthy Spanish Caucasians.

Psychiatr Genet 2010 Aug;20(4):171-8

Department of Psychiatry, School of Medicine, University of Oviedo, Centro de Investigación Biomédica en Red de Salud Mental, CIBERSAM, Julian Claveria, Spain.

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http://dx.doi.org/10.1097/YPG.0b013e32833a20b9DOI Listing
August 2010

The spectrum of SCN5A gene mutations in Spanish Brugada syndrome patients.

Rev Esp Cardiol 2010 Jul;63(7):856-9

Genética Molecular, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain.

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July 2010

Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy.

Biochem Biophys Res Commun 2010 Jul;397(3):576-9

Genética Molecular-Red de Investigación Renal (REDINREN)-Fundación Renal, Hospital Universitario Central de Asturias, 33006 Oviedo, Spain.

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http://dx.doi.org/10.1016/j.bbrc.2010.06.003DOI Listing
July 2010

Genetic variation at the CCR5/CCR2 gene cluster and risk of psoriasis and psoriatic arthritis.

Cytokine 2010 May 12;50(2):114-6. Epub 2010 Feb 12.

Dermatología II, Hospital Universitario Central de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1016/j.cyto.2010.01.006DOI Listing
May 2010

A functional polymorphism in MMP1 could influence osteomyelitis development.

J Bone Miner Res 2010 Apr;25(4):912-9

Departamento de Bioquímica y Biologia Molecular, Facultad de Medicina, Universidad de Oviedo, Oviedo, Spain.

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http://dx.doi.org/10.1359/jbmr.091013DOI Listing
April 2010

Apolipoprotein epsilon4 allele is associated with psoriasis severity.

Arch Dermatol Res 2010 Mar;302(2):145-9

Dermatology II Department, Hospital Universitario Central de Asturias, Celestino Villamil s/n, 33006 Oviedo, Spain.

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http://dx.doi.org/10.1007/s00403-009-1002-2DOI Listing
March 2010

Mutation analysis of the LCE3B/LCE3C genes in Psoriasis.

BMC Med Genet 2010 Mar 23;11:45. Epub 2010 Mar 23.

Genética Molecular, Hospital Universitario Central Asturias-Servicio de Salud del Principado de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1186/1471-2350-11-45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2859809PMC
March 2010

Genetic polymorphisms in the dopamine-2 receptor (DRD2), dopamine-3 receptor (DRD3), and dopamine transporter (SLC6A3) genes in schizophrenia: Data from an association study.

Prog Neuropsychopharmacol Biol Psychiatry 2010 Feb 17;34(1):26-31. Epub 2009 Sep 17.

Department of Psychiatry, School of Medicine, University of Oviedo, Centro de Investigación Biomédica en Red de Salud Mental, CIBERSAM, Julian Claveria 6, 33006, Oviedo, Spain.

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http://dx.doi.org/10.1016/j.pnpbp.2009.09.008DOI Listing
February 2010

Polymorphisms of the IL-1 gene complex are associated with alcohol dependence in Spanish Caucasians: data from an association study.

Alcohol Clin Exp Res 2009 Dec 17;33(12):2147-53. Epub 2009 Sep 17.

Department of Psychiatry, School of Medicine, Centro de Investigación Biomédica en Red de Salud Mental, University of Oviedo, Julián Claveria 6-3, Oviedo, Spain.

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http://dx.doi.org/10.1111/j.1530-0277.2009.01058.xDOI Listing
December 2009

Mutational screening of the mortalin gene (HSPA9) in Parkinson's disease.

J Neural Transm (Vienna) 2009 Oct 6;116(10):1289-93. Epub 2009 Aug 6.

Genética Molecular, Hospital Central de Asturias-Maternidad, 33006, Oviedo, Spain.

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http://dx.doi.org/10.1007/s00702-009-0273-2DOI Listing
October 2009

Mutational screening of the mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease.

Parkinsonism Relat Disord 2009 Jul 5;15(6):468-70. Epub 2008 Nov 5.

Genética Molecular, Hospital Central de Asturias, 33006 Oviedo, Spain.

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http://dx.doi.org/10.1016/j.parkreldis.2008.09.004DOI Listing
July 2009

Differential role of serotonergic polymorphisms in alcohol and heroin dependence.

Prog Neuropsychopharmacol Biol Psychiatry 2009 Jun 26;33(4):695-700. Epub 2009 Mar 26.

Department of Psychiatry, School of Medicine, University of Oviedo, Centro de Investigación Biomédica en Red de Salud Mental, CIBERSAM, Julian Claveria 6, 33006, Oviedo, Spain.

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http://dx.doi.org/10.1016/j.pnpbp.2009.03.016DOI Listing
June 2009

Role of serotonergic polymorphisms in the clinical severity of the panic disorder.

Rev Psiquiatr Salud Ment 2009 Mar 6;2(1):35-41. Epub 2009 May 6.

Departamento de Psiquiatría, Facultad de Medicina, Universidad de Oviedo, Centro de Investigación Biomédica en Red de Salud Mental, CIBERSAM, Oviedo, España. Electronic address:

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http://dx.doi.org/10.1016/S1888-9891(09)70712-8DOI Listing
March 2009

Mutation analysis of the myocyte enhancer factor 2A gene (MEF2A) in patients with left ventricular hypertrophy/hypertrophic cardiomyopathy.

Am J Med Genet A 2009 Feb;149A(2):286-9

Genética Molecular and Cardiología-Fundación Asturcor, Hospital Universitario Central Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1002/ajmg.a.32621DOI Listing
February 2009

[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].

Rev Esp Cardiol 2009 Jan;62(1):48-56

Genética Molecular, Instituto de Investigación Nefrológica, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain.

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January 2009

Association between the Stin2 VNTR polymorphism of the serotonin transporter gene and treatment outcome in alcohol-dependent patients.

Alcohol Alcohol 2008 Sep-Oct;43(5):516-22. Epub 2008 Jun 14.

Centro Asistencial "As Burgas", Curros Enríquez, 7, 1 degrees local-B, 32004 Ourense, Spain.

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http://dx.doi.org/10.1093/alcalc/agn048DOI Listing
November 2008

Vesicoureteric reflux and tumor necrosis factor-alpha gene polymorphism.

J Pediatr Urol 2007 Feb 19;3(1):24-7. Epub 2006 May 19.

Pediatric Nephrology Department, Instituto de Investigación Nefrológica, Hospital Universitario Central de Asturias, C/Celestino Villamil sn, CP 33006 Oviedo, Asturias, Spain.

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http://dx.doi.org/10.1016/j.jpurol.2006.03.003DOI Listing
February 2007

Mitochondrial transcription factor A (TFAM) gene variation and risk of late-onset Alzheimer's disease.

J Alzheimers Dis 2008 Apr;13(3):275-80

Genética Molecular, Hospital Universitario Central de Asturias, Oviedo, Spain.

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April 2008

Vesicoureteric reflux and tumor necrosis factor-alpha gene polymorphism.

J Pediatr Urol 2007 Feb 19;3(1):24-7. Epub 2006 May 19.

Pediatric Nephrology Department, Instituto de Investigación Nefrológica, Hospital Universitario Central de Asturias, C/Celestino Villamil sn, CP 33006 Oviedo, Asturias, Spain.

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http://dx.doi.org/10.1016/j.jpurol.2006.03.003DOI Listing
February 2007