Alberto Lleo

Alberto Lleo

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Alberto Lleo

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

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

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

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

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

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

Clinical and video-polysomnographic analysis of rapid eye movement sleep behavior disorder and other sleep disturbances in dementia with Lewy bodies.

Sleep 2019 Jul;42(7)

Neurology Service, Multidisciplinary Sleep Unit, Hospital Clinic de Barcelona, IDIBAPS, CIBERNED, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1093/sleep/zsz086DOI Listing
July 2019

Heritability and genetic variance of dementia with Lewy bodies.

Neurobiol Dis 2019 07 3;127:492-501. Epub 2019 Apr 3.

Department of Neurodegenerative Diseases, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2019.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588425PMC
July 2019

Down syndrome, Alzheimer disease, and cerebral amyloid angiopathy: The complex triangle of brain amyloidosis.

Dev Neurobiol 2019 Jul 6. Epub 2019 Jul 6.

Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau- Biomedical Research Institute Sant Pau- Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/dneu.22709DOI Listing
July 2019

Altered microRNAs related to synaptic function as potential plasma biomarkers for Alzheimer's disease.

Alzheimers Res Ther 2019 May 15;11(1):46. Epub 2019 May 15.

Institut de Neurociències and Dpt. Bioquímica i Biología Molecular, Universitat Autònoma de Barcelona, 08193, Cerdanyola del Vallès, Spain.

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http://dx.doi.org/10.1186/s13195-019-0501-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6521366PMC
May 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

Decreased circulating ErbB4 ectodomain fragments as a read-out of impaired signaling function in amyotrophic lateral sclerosis.

Neurobiol Dis 2019 04 27;124:428-438. Epub 2018 Dec 27.

Instituto de Neurociencias de Alicante, Universidad Miguel Hernández-CSIC, Sant Joan d'Alacant, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2018.12.021DOI Listing
April 2019

Has the time arrived for cerebrospinal fluid biomarkers in psychiatric disorders?

Clin Chim Acta 2019 Apr 22;491:81-84. Epub 2019 Jan 22.

Department of Psychiatry and Psychotherapy, University Medical Center Goettingen (UMG), Goettingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Goettingen, Germany.

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http://dx.doi.org/10.1016/j.cca.2019.01.019DOI Listing
April 2019

A comprehensive screening of copy number variability in dementia with Lewy bodies.

Neurobiol Aging 2019 03 24;75:223.e1-223.e10. Epub 2018 Oct 24.

Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK; Department of Medical Sciences and Institute of Biomedicine, iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183038
Publisher Site
http://dx.doi.org/10.1016/j.neurobiolaging.2018.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541211PMC
March 2019

Impact of CSF storage volume on the analysis of Alzheimer's disease biomarkers on an automated platform.

Clin Chim Acta 2019 Mar 20;490:98-101. Epub 2018 Dec 20.

Sant Pau Memory Unit, Department of Neurology, Institut d'Investigacions Biomèdiques Sant Pau, Hospital de Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas, CIBERNED, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2018.12.021DOI Listing
March 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

Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer's disease.

Alzheimers Res Ther 2019 Mar 21;11(1):26. Epub 2019 Mar 21.

Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 16 De Crespigny Park, London, SE5 8AF, UK.

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http://dx.doi.org/10.1186/s13195-019-0477-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429702PMC
March 2019

Nanoscale structure of amyloid-β plaques in Alzheimer's disease.

Sci Rep 2019 Mar 26;9(1):5181. Epub 2019 Mar 26.

Memory Unit, Department of Neurology, Institut d'Investigacions Biomèdiques Sant Pau - Hospital de Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41598-019-41443-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435662PMC
March 2019

Elevated YKL-40 and low sAPPβ:YKL-40 ratio in antemortem cerebrospinal fluid of patients with pathologically confirmed FTLD.

J Neurol Neurosurg Psychiatry 2019 Feb 8;90(2):180-186. Epub 2018 Oct 8.

Sant Pau Memory Unit, Department of Neurology, Institut d'Investigacions Biomèdiques Sant Pau - Hospital de Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain

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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2018-318993
Publisher Site
http://dx.doi.org/10.1136/jnnp-2018-318993DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351153PMC
February 2019

Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia.

Dement Geriatr Cogn Disord 2018 8;45(3-4):220-231. Epub 2018 Jun 8.

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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https://www.karger.com/Article/FullText/488528
Publisher Site
http://dx.doi.org/10.1159/000488528DOI Listing
November 2018

Prevalence of amyloid-β pathology in distinct variants of primary progressive aphasia.

Ann Neurol 2018 11;84(5):729-740

Alzheimer center Amsterdam, Amsterdam UMC, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/ana.25333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354051PMC
November 2018

Plasma and CSF biomarkers for the diagnosis of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.

Lancet Neurol 2018 10 29;17(10):860-869. Epub 2018 Aug 29.

Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau-Biomedical Research Institute Sant Pau-Universitat Autònoma de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.

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http://dx.doi.org/10.1016/S1474-4422(18)30285-0DOI Listing
October 2018

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.

Brain 2018 10;141(10):2895-2907

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1093/brain/awy238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158742PMC
October 2018

CSF sAPPβ, YKL-40, and NfL along the ALS-FTD spectrum.

Neurology 2018 10 5;91(17):e1619-e1628. Epub 2018 Oct 5.

From the Sant Pau Memory Unit, Department of Neurology, Biomedical Research Institute Sant Pau (I.I.-G., D.A., V.M., O.D.-I., L.M., M.B.S.-S., A.S., I.S., R.B., J.C., J.F., A.L.), and Neuromuscular Diseases Unit, Department of Neurology (N.d.L., J.T.-S., E.C.-V., R.R.-G.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (I.I.-G., D.A., V.M., O.D.-I., R.B., J.C., J.F., A.L.); and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (N.d.L., J.T.-S., E.C.-V., R.R.-G.), Madrid, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000006383DOI Listing
October 2018

Decreased CX3CL1 Levels in the Cerebrospinal Fluid of Patients With Alzheimer's Disease.

Front Neurosci 2018 7;12:609. Epub 2018 Sep 7.

Department of Molecular Neuropathology, Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas, Madrid, Spain.

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http://dx.doi.org/10.3389/fnins.2018.00609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137321PMC
September 2018

Prevalence of the apolipoprotein E ε4 allele in amyloid β positive subjects across the spectrum of Alzheimer's disease.

Authors:
Niklas Mattsson Colin Groot Willemijn J Jansen Susan M Landau Victor L Villemagne Sebastiaan Engelborghs Mark M Mintun Alberto Lleo José Luis Molinuevo William J Jagust Giovanni B Frisoni Adrian Ivanoiu Gaël Chételat Catarina Resende de Oliveira Karen M Rodrigue Johannes Kornhuber Anders Wallin Aleksandra Klimkowicz-Mrowiec Ramesh Kandimalla Julius Popp Pauline P Aalten Dag Aarsland Daniel Alcolea Ina S Almdahl Inês Baldeiras Mark A van Buchem Enrica Cavedo Kewei Chen Ann D Cohen Stefan Förster Juan Fortea Kristian S Frederiksen Yvonne Freund-Levi Kiran Dip Gill Olymbia Gkatzima Timo Grimmer Harald Hampel Sanna-Kaisa Herukka Peter Johannsen Koen van Laere Mony J de Leon Wolfgang Maier Jan Marcusson Olga Meulenbroek Hanne M Møllergård John C Morris Barbara Mroczko Arto Nordlund Sudesh Prabhakar Oliver Peters Lorena Rami Eloy Rodríguez-Rodríguez Catherine M Roe Eckart Rüther Isabel Santana Johannes Schröder Sang W Seo Hilkka Soininen Luiza Spiru Erik Stomrud Hanne Struyfs Charlotte E Teunissen Frans R J Verhey Stephanie J B Vos Linda J C van Waalwijk van Doorn Gunhild Waldemar Åsa K Wallin Jens Wiltfang Rik Vandenberghe David J Brooks Tormod Fladby Christopher C Rowe Alexander Drzezga Marcel M Verbeek Marie Sarazin David A Wolk Adam S Fleisher William E Klunk Duk L Na Pascual Sánchez-Juan Dong Young Lee Agneta Nordberg Magda Tsolaki Vincent Camus Juha O Rinne Anne M Fagan Henrik Zetterberg Kaj Blennow Gil D Rabinovici Oskar Hansson Bart N M van Berckel Wiesje M van der Flier Philip Scheltens Pieter Jelle Visser Rik Ossenkoppele

Alzheimers Dement 2018 07 28;14(7):913-924. Epub 2018 Mar 28.

Clinical Memory Research Unit, Clinical Sciences Malmö, Lund University, Lund, Sweden; Department of Neurology and Alzheimer Center, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, the Netherlands; Department of Radiology and Nuclear Medicine, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jalz.2018.02.009DOI Listing
July 2018

Cerebrospinal fluid mitochondrial DNA levels in patients with multiple sclerosis.

Mult Scler 2018 Jul 1:1352458518786055. Epub 2018 Jul 1.

Servei de Neurologia-Neuroimmunologia, Centre d'Esclerosi Múltiple de Catalunya (Cemcat), Institut de Recerca Vall d'Hebron (VHIR), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1177/1352458518786055DOI Listing
July 2018

Cerebrospinal fluid and blood biomarkers for neurodegenerative dementias: An update of the Consensus of the Task Force on Biological Markers in Psychiatry of the World Federation of Societies of Biological Psychiatry.

World J Biol Psychiatry 2018 06 27;19(4):244-328. Epub 2017 Oct 27.

a Department of Psychiatry and Psychotherapy , Universitätsklinikum Erlangen, and Friedrich-Alexander Universität Erlangen-Nürnberg , Erlangen , Germany.

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http://dx.doi.org/10.1080/15622975.2017.1375556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916324PMC
June 2018

Alzheimer's disease: An ignored condition.

Authors:
Alberto Lleó

Med Clin (Barc) 2018 06 28;150(11):432-433. Epub 2017 Nov 28.

Departamento de Neurología, Institut d'Investigacions Biomèdiques Sant Pau, Hospital de Sant Pau, Universitat Autònoma de Barcelona, Barcelona, España. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2017.10.028DOI Listing
June 2018

Cerebral changes and disrupted gray matter cortical networks in asymptomatic older adults at risk for Alzheimer's disease.

Neurobiol Aging 2018 04 20;64:58-67. Epub 2017 Dec 20.

CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, Spain; Department of Neurology, Institut d'Investigacions Biomediques Sant Pau-Hospital Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.12.010DOI Listing
April 2018

Challenges associated with biomarker-based classification systems for Alzheimer's disease.

Alzheimers Dement (Amst) 2018 21;10:346-357. Epub 2018 Apr 21.

Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.dadm.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6114028PMC
April 2018

Cortical microstructural changes along the Alzheimer's disease continuum.

Alzheimers Dement 2018 03 31;14(3):340-351. Epub 2017 Oct 31.

Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, 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.jalz.2017.09.013DOI Listing
March 2018

Kidins220 Correlates with Tau in Alzheimer's Disease Brain and Cerebrospinal Fluid.

J Alzheimers Dis 2017 ;55(4):1327-1333

Instituto de Investigaciones Biomédicas "Alberto Sols", Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), Madrid, Spain.

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http://dx.doi.org/10.3233/JAD-160639DOI Listing
February 2018

Feasibility of Lumbar Puncture in the Study of Cerebrospinal Fluid Biomarkers for Alzheimer's Disease in Subjects with Down Syndrome.

J Alzheimers Dis 2017 ;55(4):1489-1496

Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.3233/JAD-160827DOI Listing
February 2018

A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk.

J Alzheimers Dis 2017 ;56(3):1065-1074

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/10.3233/JAD-161113DOI Listing
February 2018

Association of Cerebral Amyloid-β Aggregation With Cognitive Functioning in Persons Without Dementia.

Authors:
Willemijn J Jansen Rik Ossenkoppele Betty M Tijms Anne M Fagan Oskar Hansson William E Klunk Wiesje M van der Flier Victor L Villemagne Giovanni B Frisoni Adam S Fleisher Alberto Lleó Mark A Mintun Anders Wallin Sebastiaan Engelborghs Duk L Na Gäel Chételat José Luis Molinuevo Susan M Landau Niklas Mattsson Johannes Kornhuber Osama Sabri Christopher C Rowe Lucilla Parnetti Julius Popp Tormod Fladby William J Jagust Pauline Aalten Dong Young Lee Rik Vandenberghe Catarina Resende de Oliveira Elisabeth Kapaki Lutz Froelich Adrian Ivanoiu Tomasz Gabryelewicz Marcel M Verbeek Páscual Sanchez-Juan Helmut Hildebrandt Vincent Camus Marzena Zboch David J Brooks Alexander Drzezga Juha O Rinne Andrew Newberg Alexandre de Mendonça Marie Sarazin Gil D Rabinovici Karine Madsen Milica G Kramberger Agneta Nordberg Vincent Mok Barbara Mroczko David A Wolk Philipp T Meyer Magda Tsolaki Philip Scheltens Frans R J Verhey Pieter Jelle Visser Dag Aarsland Daniel Alcolea Myriam Alexander Ina S Almdahl Steven E Arnold Inês Baldeiras Henryk Barthel Bart N M van Berckel Kaj Blennow Mark A van Buchem Enrica Cavedo Kewei Chen Elena Chipi Ann D Cohen Stefan Förster Juan Fortea Kristian S Frederiksen Yvonne Freund-Levi Olymbia Gkatzima Mark Forrest Gordon Timo Grimmer Harald Hampel Lucrezia Hausner Sabine Hellwig Sanna-Kaisa Herukka Peter Johannsen Aleksandra Klimkowicz-Mrowiec Sebastian Köhler Norman Koglin Koen van Laere Mony de Leon Viviana Lisetti Wolfgang Maier Jan Marcusson Olga Meulenbroek Hanne M Møllergård John C Morris Arto Nordlund Gerald P Novak George P Paraskevas Gayan Perera Oliver Peters Inez H G B Ramakers Lorena Rami Eloy Rodríguez-Rodríguez Catherine M Roe Uros Rot Eckart Rüther Isabel Santana Johannes Schröder Sang W Seo Hilkka Soininen Luiza Spiru Erik Stomrud Hanne Struyfs Charlotte E Teunissen Stephanie J B Vos Linda J C van Waalwijk van Doorn Gunhild Waldemar Åsa K Wallin Jens Wiltfang Henrik Zetterberg

JAMA Psychiatry 2018 Jan;75(1):84-95

Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Mölndal, Sweden.

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http://dx.doi.org/10.1001/jamapsychiatry.2017.3391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786156PMC
January 2018

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.

Lancet Neurol 2018 01 16;17(1):64-74. Epub 2017 Dec 16.

UK Dementia Research Institute, University College London, London, UK; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK; Department of Medical Sciences and Institute of Biomedicine, iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(17)30400-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805394PMC
January 2018

Weight loss in the healthy elderly might be a non-cognitive sign of preclinical Alzheimer's disease.

Oncotarget 2017 Dec 31;8(62):104706-104716. Epub 2017 Oct 31.

Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.18632/oncotarget.22218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5739594PMC
December 2017

CSF microRNA Profiling in Alzheimer's Disease: a Screening and Validation Study.

Mol Neurobiol 2017 11 13;54(9):6647-6654. Epub 2016 Oct 13.

Alzheimer's disease and other cognitive disorders unit, Neurology Service, Hospital Clínic i Universitari-, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Villarroel 170, Barcelona, 08036, Spain.

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http://dx.doi.org/10.1007/s12035-016-0106-xDOI Listing
November 2017

Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.

Alzheimers Dement 2017 Nov 29;13(11):1251-1260. Epub 2017 Apr 29.

Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; Barcelona Down Medical Center, Fundació Catalana de Síndrome de Down, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jalz.2017.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5660938PMC
November 2017

The pitfalls of biomarker-based classification schemes.

Alzheimers Dement 2017 09 10;13(9):1072-1074. Epub 2017 Jul 10.

Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain; Barcelona Down Medical Center, Fundació Catalana de Síndrome de Down, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jalz.2017.06.002DOI Listing
September 2017

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

Ante mortem cerebrospinal fluid tau levels correlate with postmortem tau pathology in frontotemporal lobar degeneration.

Ann Neurol 2017 Aug 19;82(2):247-258. Epub 2017 Aug 19.

Frontotemporal Degeneration Center, Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.

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http://dx.doi.org/10.1002/ana.24996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5776747PMC
August 2017

CSF sAPPβ, YKL-40, and neurofilament light in frontotemporal lobar degeneration.

Neurology 2017 Jul 7;89(2):178-188. Epub 2017 Jun 7.

From the Department of Neurology (D.A., E.V., M.S.-C., I.I.-G., R.B., J.C., J.F., A. Lleó), Institut d'Investigacions Biomèdiques Sant Pau-Hospital de Sant Pau, Universitat Autònoma de Barcelona; Alzheimer's Disease and Other Cognitive Disorders Unit (A. Lladó, R.S.-V., J.L.M.), Department of Neurology, Hospital Clínic, Institut d'Investigació Biomèdica August Pi I Sunyer, Barcelona; Servicio de Neurología (G.G.-R.), Hospital Universitario Ramón y Cajal, Madrid; Parkinson's Disease and Movement Disorders Unit (Y.C., M.J.M.), Neurology Service, Institute of Clinical Neurosciences, Hospital Clínic/IDIBAPS and University of Barcelona; Unitat de Trastorns Cognitius (G.P.-R.), Hospital Santa Maria, Lleida; Unidad de Neurología Cognitiva (G.A.-F., A.N., A.G.-M.), Servicio de Neurología, Hospital Universitari Son Espases, Palma de Mallorca; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., E.V., M.S.-C., I.I.-G., R.B., J.C., Y.C., M.J.M., J.F., A. Lleó), Madrid, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000004088DOI Listing
July 2017

YKL-40 (Chitinase 3-like I) is expressed in a subset of astrocytes in Alzheimer's disease and other tauopathies.

J Neuroinflammation 2017 06 9;14(1):118. Epub 2017 Jun 9.

Memory Unit, Department of Neurology, Institut d'Investigacions Biomèdiques Sant Pau - Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Sant Antoni M. Claret 167, 08025, Barcelona, Spain.

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http://dx.doi.org/10.1186/s12974-017-0893-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5466718PMC
June 2017

Longitudinal brain structural changes in preclinical Alzheimer's disease.

Alzheimers Dement 2017 May 28;13(5):499-509. Epub 2016 Sep 28.

Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau- Biomedical Research Institute Sant Pau-Universitat Autònoma de Barcelona, Barcelona, 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.jalz.2016.08.010DOI Listing
May 2017

Cerebrospinal fluid mitochondrial DNA in the Alzheimer's disease continuum.

Neurobiol Aging 2017 05 22;53:192.e1-192.e4. Epub 2016 Dec 22.

Memory Unit, Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.12.009DOI Listing
May 2017

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Hum Mutat 2017 03 19;38(3):297-309. Epub 2017 Jan 19.

Center for Molecular Neurology, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.23161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324646PMC
March 2017

Regional Overlap of Pathologies in Lewy Body Disorders.

J Neuropathol Exp Neurol 2017 03;76(3):216-224

Neurological Tissue Bank, Biobanc Hospital Clínic-IDIBAPS, Barcelona, Spain.

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http://dx.doi.org/10.1093/jnen/nlx002DOI Listing
March 2017

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

Neurobiol Aging 2017 01 2;49:214.e13-214.e15. Epub 2016 Sep 2.

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK; Department of Medical Sciences and Institute of Biomedicine-iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.08.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154872PMC
January 2017

Progranulin Protein Levels in Cerebrospinal Fluid in Primary Neurodegenerative Dementias.

J Alzheimers Dis 2016 ;50(2):539-46

Memory Unit, Department of Neurology, Institut d'Investigacions Biomèdiques Sant Pau - Hospital de Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.3233/JAD-150746DOI Listing
November 2016

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.

Neurobiol Aging 2016 10 4;46:236.e1-6. Epub 2016 Jul 4.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Department of Medical Sciences and Institute of Biomedicine - iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.06.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5166571PMC
October 2016

Pittsburgh compound B imaging and cerebrospinal fluid amyloid-β in a multicentre European memory clinic study.

Brain 2016 09 7;139(Pt 9):2540-53. Epub 2016 Jul 7.

1 Department of Neurobiology, Care Science, and Society, Centre for Alzheimer Research, Division of Translational Alzheimer Neurobiology, Karolinska Institutet, Stockholm, Sweden 17 Department of Geriatric Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden

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http://dx.doi.org/10.1093/brain/aww160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4995359PMC
September 2016

Cerebrospinal fluid Presenilin-1 increases at asymptomatic stage in genetically determined Alzheimer's disease.

Mol Neurodegener 2016 Sep 29;11(1):66. Epub 2016 Sep 29.

Instituto de Neurociencias de Alicante, Universidad Miguel Hernández-CSIC, 03550, Av. Ramón y Cajal s/n, Sant Joan d'Alacant, E-03550, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043603PMC
http://dx.doi.org/10.1186/s13024-016-0131-2DOI Listing
September 2016

Non-Fibrillar Oligomeric Amyloid-β within Synapses.

J Alzheimers Dis 2016 05;53(3):787-800

The University of Edinburgh Centre for Cognitive and Neural Systems, Centre for Dementia Prevention and the Euan MacDonald Centre for Motor Neurone Disease Research, Edinburgh, UK.

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http://dx.doi.org/10.3233/JAD-160007DOI Listing
May 2016

Copy number variation analysis of the 17q21.31 region and its role in neurodegenerative diseases.

Am J Med Genet B Neuropsychiatr Genet 2016 Mar 9;171B(2):175-80. Epub 2015 Oct 9.

Memory Unit, Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.b.32390DOI Listing
March 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

Use of amyloid-PET to determine cutpoints for CSF markers: A multicenter study.

Neurology 2016 Jan 14;86(1):50-8. Epub 2015 Oct 14.

From the Alzheimer Center & Department of Neurology (M.D.Z., F.H.B., P.J.V.) and Department of Clinical Chemistry (C.E.T.), Neuroscience Campus Amsterdam, VU University Medical Center, the Netherlands; Turku PET Centre and Department of Neurology (J.O.R.), University of Turku and Turku University Hospital, Finland; Danish Dementia Research Centre (S.G.H.), Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of NVS (A.N., S.F.C.), Centre for Alzheimer Research, Translational Alzheimer Neurobiology, Karolinska Institutet, Stockholm; Department of Geriatric Medicine (A.N.), Karolinska University Hospital, Stockholm, Sweden; Memory Unit (A.L., J.F., R.B.), Department of Neurology, Hospital de Sant Pau, Barcelona; CIBERNED (A.L., J.F., R.B.), Center for Network Biomedical Research into Neurodegenerative Diseases, Instituto de Salud Carlos III, Madrid, Spain; Institute of Clinical Medicine-Neurology (S.-K.H., H.S., J.M.C.B.), University of Eastern Finland, Kuopio; Department of Clinical Physiology (I.L.), Nuclear Medicine and PET, Rigshospitalet, Copenhagen; Department of Autoimmunology and Biomarkers (J.M.C.B.), Statens Serum Institut, Copenhagen, Denmark; Wolfson Molecular Imaging Centre (S.F.C.), Institute of Brain Behaviour and Mental Health, University of Manchester, UK; Department of Radiology & Nuclear Medicine (B.N.M.v.B.), VU University Medical Center, Amsterdam; and Department of Psychiatry and Neuropsychology (P.J.V.), Maastricht University, School for Mental Health and Neuroscience, Alzheimer Center Limburg, Maastricht, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000002081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731290PMC
January 2016

Qualitative changes in human γ-secretase underlie familial Alzheimer's disease.

J Exp Med 2015 Nov 19;212(12):2003-13. Epub 2015 Oct 19.

VIB Center for the Biology of Disease, University of Leuven (KU Leuven), 3000 Leuven, Belgium Center for Human Genetics (CME) and Leuven Research Institute for Neuroscience and Disease (LIND), University of Leuven (KU Leuven), 3000 Leuven, Belgium

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http://dx.doi.org/10.1084/jem.20150892DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4647268PMC
November 2015

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Hum Mol Genet 2015 Oct 17;24(20):5677-86. Epub 2015 Jul 17.

Bioinformatics and Genomics Program, Centre for Genomic Regulation (CRG), Barcelona, Spain, Universitat Pompeu Fabra (UPF), Barcelona, Spain, Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain, CRG CIBER de Epidemiología y Salud Pública (CIBERESP), Barcelona, Catalonia 08003, Spain, Dexeus Women's Health, University Hospital Quiron-Dexeus, Barcelona, Catalonia 08028, Spain

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http://dx.doi.org/10.1093/hmg/ddv281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692992PMC
October 2015

Informants' Perception of Subjective Cognitive Decline Helps to Discriminate Preclinical Alzheimer's Disease from Normal Aging.

J Alzheimers Dis 2015 Sep;48 Suppl 1:S87-98

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, Barcelona, Spain.

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http://dx.doi.org/10.3233/JAD-150117DOI Listing
September 2015