Onofre Combarros

Onofre Combarros

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Onofre Combarros

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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

Comparative blood transcriptome analysis in idiopathic and LRRK2 G2019S-associated Parkinson's disease.

Neurobiol Aging 2016 Feb 31;38:214.e1-214.e5. Epub 2015 Oct 31.

Institute of Biomedicine and Biotechnology of Cantabria (IBBTEC), Spanish National Research Council (CSIC), Santander, Spain.

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.10.026DOI Listing
February 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://journals.plos.org/plosone/article?id=10.1371/journal.pone.0094661PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4055488PMC
October 2015

Identification of candidate genes for Parkinson's disease through blood transcriptome analysis in LRRK2-G2019S carriers, idiopathic cases, and controls.

Neurobiol Aging 2015 Feb 5;36(2):1105-9. Epub 2014 Nov 5.

Institute of Biomedicine and Biotechnology of Cantabria, Spanish National Research Council (CSIC), Santander, Spain.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.10.039DOI Listing
February 2015

Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease.

Alzheimer Dis Assoc Disord 2013 Oct-Dec;27(4):302-9

*Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA †Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, ON, Canada ‡Department of Neurology and Neurosciences, Brain Dynamics Research Center, Dokuz Eylül University, İzmir, Turkey §BEYINMER, Istanbul Kultur University, Istanbul, Turkey ∥Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), 'Marqués de Valdecilla' University Hospital, Institute for Formation and Research of the Foundation 'Marqués de Valdecilla' (IFIMAV), University of Cantabria, Cantabria, Spain ¶Cognitive Disorders Unit, Department of Neurology, Hospital Universitario Donostia, San Sebastian, Gipuzkoa, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), area 6, Institute Carlos III, Spain; Neuroscience Area, Institute Biodonostia, San Sebastian, Gipuzkoa, Spain #Department of Neurology, Neurobehavior Division, University of California, Los Angeles **Department of Psychiatry and Neurology, University of California, Los Angeles, CA ††Department of Neuroscience, Mayo Clinic, Rochester, MN ‡‡Department of Medicine, Weill Medical College of Cornell University, New York, NY.

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http://dx.doi.org/10.1097/WAD.0b013e31828cc357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3796183PMC
July 2014

Serum uric acid and risk of dementia in Parkinson's disease.

Parkinsonism Relat Disord 2014 Jun 5;20(6):637-9. Epub 2014 Mar 5.

Service of Neurology, Universitary Hospital Marqués de Valdecilla (IFIMAV), University of Cantabria (UC), Santander, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Spain. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2014.02.023DOI Listing
June 2014

Genetic variability related to serum uric acid concentration and risk of Parkinson's disease.

Mov Disord 2013 Oct 27;28(12):1737-40. Epub 2013 May 27.

Service of Neurology, Universitary Hospital Marqués de Valdecilla (IFIMAV), University of Cantabria (UC), Santander, Spain.

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http://dx.doi.org/10.1002/mds.25507DOI Listing
October 2013

Thumb, forefinger, and lip numbness: a distinctive thalamic lacunar syndrome.

Neurol Sci 2013 Feb 25;34(2):253-4. Epub 2012 Feb 25.

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http://dx.doi.org/10.1007/s10072-012-0992-2DOI Listing
February 2013

Olfaction and imaging biomarkers in premotor LRRK2 G2019S-associated Parkinson disease.

Neurology 2013 Feb 16;80(7):621-6. Epub 2013 Jan 16.

Neurology Service, Universitary Hospital Marqués de Valdecilla and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Spain.

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http://dx.doi.org/10.1212/WNL.0b013e31828250d6DOI Listing
February 2013

Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.

Neurobiol Aging 2012 Jul 2;33(7):1487.e21-8. Epub 2011 Dec 2.

Neurology Department, University Hospital Marqués de Valdecilla, Fundación Marqués de Valdecilla (University of Cantabria) IFIMAV and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, Santander, Spain.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.10.011DOI Listing
July 2012

Genetic variation in APOE cluster region and Alzheimer's disease risk.

Neurobiol Aging 2011 Nov 14;32(11):2107.e7-17. Epub 2011 Jul 14.

Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.05.023DOI Listing
November 2011

High frequency and reduced penetrance of LRRK2 G2019S mutation among Parkinson's disease patients in Cantabria (Spain).

Mov Disord 2011 Nov 27;26(13):2343-6. Epub 2011 Sep 27.

Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1002/mds.23965DOI Listing
November 2011

New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.

J Neurol 2011 Sep 18;258(9):1594-602. Epub 2011 May 18.

Service of Neurology, University Hospital "Marqués de Valdecilla" (IFIMAV), "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)", University of Cantabria (UC), 39008 Santander, Spain.

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http://dx.doi.org/10.1007/s00415-011-6094-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

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.

J Neurol 2011 Aug 19;258(8):1413-21. Epub 2011 Feb 19.

Service of Neurology, University Hospital "Marqués de Valdecilla" (IFIMAV), "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas" (CIBERNED), University of Cantabria (UC), 39008 Santander, Spain.

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http://dx.doi.org/10.1007/s00415-011-5947-7DOI Listing
August 2011

Detection of early Alzheimer's disease in MCI patients by the combination of MMSE and an episodic memory test.

BMC Neurol 2011 Jun 24;11:78. Epub 2011 Jun 24.

Neurology Service, IFIMAV and CIBERNED, Marqués de Valdecilla University Hospital (University of Cantabria), Avda Valdecilla s/n, 39008-Santander, Spain.

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http://dx.doi.org/10.1186/1471-2377-11-78DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135527PMC
June 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

APOE dependent-association of PPAR-γ genetic variants with Alzheimer's disease risk.

Neurobiol Aging 2011 Mar 6;32(3):547.e1-6. Epub 2009 Aug 6.

Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Marqués de Valdecilla University Hospital-University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1016/j.neurobiolaging.2009.07.004DOI Listing
March 2011

Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer's disease in a Spanish case-control cohort.

Neurobiol Aging 2011 Mar 22;32(3):550.e5-9. Epub 2010 Jan 22.

Neurology Service and CIBERNED, Marqués de Valdecilla University Hospital, University of Cantabria, Avda. Valdecilla, 39008 Santander, Spain.

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http://dx.doi.org/10.1016/j.neurobiolaging.2009.12.021DOI Listing
March 2011

Clinical progression in Charcot-Marie-Tooth disease type 1A duplication: clinico-electrophysiological and MRI longitudinal study of a family.

J Neurol 2010 Oct 5;257(10):1633-41. Epub 2010 May 5.

Service of Neurology, University Hospital Marqués de Valdecilla (IFIMAV), University of Cantabria and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, 39008, Santander, Spain.

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http://link.springer.com/10.1007/s00415-010-5580-x
Publisher Site
http://dx.doi.org/10.1007/s00415-010-5580-xDOI Listing
October 2010

Gene-gene interaction between heme oxygenase-1 and liver X receptor-beta and Alzheimer's disease risk.

Neurobiol Aging 2010 Apr 1;31(4):710-4. Epub 2008 Jul 1.

Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Marqués de Valdecilla University Hospital (University of Cantabria), Santander, Spain.

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http://dx.doi.org/10.1016/j.neurobiolaging.2008.05.025DOI Listing
April 2010

Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication.

Adv Exp Med Biol 2009 ;652:183-200

Service of Neurology, Clinical Neurophysiology and Radiology, University Hospital Marqués de Valdecilla, University of Cantabria, CIBERNED and IFIMAV, Santander, Spain.

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http://dx.doi.org/10.1007/978-90-481-2813-6_12DOI Listing
April 2010

Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.

J Neurol 2009 Dec;256(12):2061-71

Service of Radiology, University Hospital Marqués de Valdecilla, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, University of Cantabria, 39008 Santander, Spain.

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http://link.springer.com/10.1007/s00415-009-5251-y
Publisher Site
http://dx.doi.org/10.1007/s00415-009-5251-yDOI Listing
December 2009

Genetic interaction between tau and the apolipoprotein E receptor LRP1 Increases Alzheimer's disease risk.

Dement Geriatr Cogn Disord 2009 13;28(2):116-20. Epub 2009 Aug 13.

Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), University Hospital Marqués de Valdecilla (University of Cantabria), Santander, Spain.

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http://dx.doi.org/10.1159/000234913DOI Listing
November 2009

Epistasis in sporadic Alzheimer's disease.

Neurobiol Aging 2009 Sep 21;30(9):1333-49. Epub 2008 Feb 21.

Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, Marqués de Valdecilla University Hospital, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1016/j.neurobiolaging.2007.11.027DOI Listing
September 2009

Interaction between HMGCR and ABCA1 cholesterol-related genes modulates Alzheimer's disease risk.

Brain Res 2009 Jul 14;1280:166-71. Epub 2009 May 14.

Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Marqués de Valdecilla University Hospital, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1016/j.brainres.2009.05.019DOI Listing
July 2009

No association of CDK5 genetic variants with Alzheimer's disease risk.

BMC Med Genet 2009 Jul 17;10:68. Epub 2009 Jul 17.

Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, University Hospital Marqués de Valdecilla (University of Cantabria), Santander, Spain.

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http://dx.doi.org/10.1186/1471-2350-10-68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2716333PMC
July 2009

The synergy factor: a statistic to measure interactions in complex diseases.

BMC Res Notes 2009 Jun 15;2:105. Epub 2009 Jun 15.

Centre for Paediatric Epidemiology and Biostatistics, Institute of Child Health, University College London, 30 Guilford Street, London,WC1N 1EH, UK.

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http://dx.doi.org/10.1186/1756-0500-2-105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706251PMC
June 2009

Age-dependent association of KIBRA genetic variation and Alzheimer's disease risk.

Neurobiol Aging 2009 Feb 17;30(2):322-4. Epub 2007 Aug 17.

Neurology Service, Marqués de Valdecilla University Hospital, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1016/j.neurobiolaging.2007.07.003DOI Listing
February 2009

Synergistic effect of heme oxygenase-1 and tau genetic variants on Alzheimer's disease risk.

Dement Geriatr Cogn Disord 2008 8;26(4):339-42. Epub 2008 Oct 8.

Neurology Service, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1159/000161059DOI Listing
February 2009

Deficiency of CARD8 is associated with increased Alzheimer's disease risk in women.

Dement Geriatr Cogn Disord 2008 8;26(3):247-50. Epub 2008 Oct 8.

Unidad de Genética Molecular, Marqués de Valdecilla University Hospital, Santander, Spain.

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http://dx.doi.org/10.1159/000160956DOI Listing
January 2009

No association of genetic variants of liver X receptor-beta with Alzheimer's disease risk.

Am J Med Genet B Neuropsychiatr Genet 2008 Jul;147B(5):650-3

Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, Marqués de Valdecilla University Hospital (University of Cantabria), Santander, Spain.

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http://dx.doi.org/10.1002/ajmg.b.30652DOI Listing
July 2008

Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.

J Neurol 2008 Jul 17;255(7):986-92. Epub 2008 Jun 17.

Services of Radiology, Clinical Neurophysiology and Neurology, University Hospital Marqués de Valdecilla, (CIBERNED and IFIMAV), Santander, Spain.

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http://dx.doi.org/10.1007/s00415-008-0808-8DOI Listing
July 2008

14-3-3 zeta and tau genes interactively decrease Alzheimer's disease risk.

Dement Geriatr Cogn Disord 2008 4;25(4):317-20. Epub 2008 Mar 4.

Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Marqués de Valdecilla University Hospital, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1159/000119123DOI Listing
June 2008

Interaction between CD14 and LXRbeta genes modulates Alzheimer's disease risk.

J Neurol Sci 2008 Jan 27;264(1-2):97-9. Epub 2007 Sep 27.

Neurology Service, University Hospital Marqués de Valdecilla (University of Cantabria), Santander, Spain.

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http://dx.doi.org/10.1016/j.jns.2007.08.001DOI Listing
January 2008

Association of genetic variants of ABCA1 with Alzheimer's disease risk.

Am J Med Genet B Neuropsychiatr Genet 2007 Oct;144B(7):964-8

Neurology Service, Marqués de Valdecilla University Hospital (University of Cantabria), 39008 Santander, Spain.

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http://dx.doi.org/10.1002/ajmg.b.30552DOI Listing
October 2007

Interaction between poly(ADP-ribose) polymerase 1 and interleukin 1A genes is associated with Alzheimer's disease risk.

Dement Geriatr Cogn Disord 2007 9;23(4):215-8. Epub 2007 Feb 9.

Neurology Service, Marqués de Valdecilla University Hospital, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1159/000099471DOI Listing
May 2007

Poly (ADP-ribose) polymerase-1 (PARP-1) genetic variants are protective against Parkinson's disease.

J Neurol Sci 2007 May 23;256(1-2):68-70. Epub 2007 Mar 23.

Service of Neurology, University Hospital Marqués de Valdecilla (University of Cantabria), Santander, Spain.

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http://dx.doi.org/10.1016/j.jns.2007.02.008DOI Listing
May 2007

Association between glycogen synthase kinase-3beta genetic polymorphism and late-onset Alzheimer's disease.

Dement Geriatr Cogn Disord 2006 ;21(4):228-32

Neurology Service, Marqués de Valdecilla University Hospital (University of Cantabria), Santander, Spain.

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http://dx.doi.org/10.1159/000091044DOI Listing
September 2006

Stiff man-like syndrome and generalized myokymia in spinocerebellar ataxia type 3.

Mov Disord 2006 Jul;21(7):1031-5

Service of Neurology, University Hospital Marqués de Valdecilla, (UC) Santander, Spain.

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http://dx.doi.org/10.1002/mds.20865DOI Listing
July 2006

No association between low density lipoprotein receptor genetic variants and Alzheimer's disease risk.

Am J Med Genet B Neuropsychiatr Genet 2006 Jul;141B(5):541-3

Neurology Service, "Marqués de Valdecilla" University Hospital (University of Cantabria), Santander, Spain.

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http://dx.doi.org/10.1002/ajmg.b.30341DOI Listing
July 2006

Case-control study of vascular endothelial growth factor (VEGF) genetic variability in Alzheimer's disease.

Neurosci Lett 2006 Jun 29;401(1-2):171-3. Epub 2006 Mar 29.

Service of Neurology, University Hospital "Marqués de Valdecilla" (University of Cantabria), 39008 Santander, Spain.

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http://dx.doi.org/10.1016/j.neulet.2006.03.020DOI Listing
June 2006

LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease.

Neurosci Lett 2006 Mar 18;395(3):224-6. Epub 2005 Nov 18.

Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, 39008 Santander, Spain.

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http://dx.doi.org/10.1016/j.neulet.2005.10.083DOI Listing
March 2006

Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles.

Brain 2006 Feb 29;129(Pt 2):426-37. Epub 2005 Nov 29.

Service of Radiology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain.

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http://cmt.org.uk/wp-content/uploads/2015/02/animal-models.p
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awh693DOI Listing
February 2006

Very late-onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type.

Mov Disord 2005 Dec;20(12):1643-5

Department of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1002/mds.20644DOI Listing
December 2005

[Competing risks of death and Hardy-Weinberg equilibrium in case-control studies of gene-disease association].

Gac Sanit 2005 Jul-Aug;19(4):321-4

Medicina Preventiva y Salud Pública, Facultad de Medicina, Universidad de Cantabria, Santander, Spain.

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November 2005

Interaction between CYP19 aromatase and butyrylcholinesterase genes increases Alzheimer's disease risk.

Dement Geriatr Cogn Disord 2005 13;20(2-3):153-7. Epub 2005 Jul 13.

Neurology Service, Marqués de Valdecilla University Hospital, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1159/000087065DOI Listing
October 2005

CD14 receptor polymorphism and Alzheimer's disease risk.

Neurosci Lett 2005 May 20-27;380(1-2):193-6

Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, 39008 Santander, Spain.

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http://dx.doi.org/10.1016/j.neulet.2005.01.082DOI Listing
July 2005

Genetic association of CYP46 and risk for Alzheimer's disease.

Dement Geriatr Cogn Disord 2004 29;18(3-4):257-60. Epub 2004 Jul 29.

Neurology Service, Marqués de Valdecilla University Hospital (University of Cantabria), Santander, Spain.

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http://dx.doi.org/10.1159/000080025DOI Listing
February 2005

Consistency in gene-Alzheimer's disease association studies.

J Epidemiol Community Health 2005 Jan;59(1):83-5

Division of Preventive Medicine and Public Health, University of Cantabria School of Medicine, Spain.

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http://dx.doi.org/10.1136/jech.2003.016451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1763361PMC
January 2005

Interleukin-8, intercellular adhesion molecule-1 and tumour necrosis factor-alpha gene polymorphisms and the risk for multiple system atrophy.

J Neurol Sci 2005 Jan;228(1):11-3

Neurology Service, University Hospital Marqués de Valdecilla, University of Cantabria, 39008 Santander, Spain.

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http://dx.doi.org/10.1016/j.jns.2004.09.023DOI Listing
January 2005

The chemokine receptor CCR5-Delta32 gene mutation is not protective against Alzheimer's disease.

Neurosci Lett 2004 Aug;366(3):312-4

Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, 39008 Santander, Spain.

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http://dx.doi.org/10.1016/j.neulet.2004.05.058DOI Listing
August 2004

Polymorphism at codon 66 of the brain-derived neurotrophic factor gene is not associated with sporadic Alzheimer's disease.

Dement Geriatr Cogn Disord 2004 6;18(1):55-8. Epub 2004 Apr 6.

Neurology Service, University Hospital 'Marqués de Valdecilla', University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1159/000077736DOI Listing
July 2004

Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease.

Mov Disord 2004 Jul;19(7):848-852

Service of Neurology, University Hospital "Marqués de Valdecilla" (University of Cantabria), Santander, Spain.

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http://dx.doi.org/10.1002/mds.20090DOI Listing
July 2004

Polymorphism at codon 469 of the intercellular adhesion molecule-1 gene is not associated with sporadic Alzheimer's disease.

Am J Med Genet B Neuropsychiatr Genet 2004 Apr;126B(1):66-8

Neurology Service, University Hospital Marqués de Valdecilla, University of Cantabria, 39008-Santander, Spain.

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http://dx.doi.org/10.1002/ajmg.b.20140DOI Listing
April 2004

No evidence for association of the monocyte chemoattractant protein-1 (-2518) gene polymorphism and Alzheimer's disease.

Neurosci Lett 2004 Apr;360(1-2):25-8

Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, 39008 Santander, Spain.

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http://dx.doi.org/10.1016/j.neulet.2004.01.035DOI Listing
April 2004

Interleukin-1A (-889) genetic polymorphism increases the risk of multiple system atrophy.

Mov Disord 2003 Nov;18(11):1385-6

Neurology Service, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1002/mds.10540DOI Listing
November 2003

Hereditary neuropathies.

Curr Opin Neurol 2003 Oct;16(5):613-22

Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1097/01.wco.0000093105.34793.ddDOI Listing
October 2003