Alfredo Ramirez

Alfredo Ramirez

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Alfredo Ramirez

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Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

Authors:
Gail Davies Max Lam Sarah E Harris Joey W Trampush Michelle Luciano W David Hill Saskia P Hagenaars Stuart J Ritchie Riccardo E Marioni Chloe Fawns-Ritchie David C M Liewald Judith A Okely Ari V Ahola-Olli Catriona L K Barnes Lars Bertram Joshua C Bis Katherine E Burdick Andrea Christoforou Pamela DeRosse Srdjan Djurovic Thomas Espeseth Stella Giakoumaki Sudheer Giddaluru Daniel E Gustavson Caroline Hayward Edith Hofer M Arfan Ikram Robert Karlsson Emma Knowles Jari Lahti Markus Leber Shuo Li Karen A Mather Ingrid Melle Derek Morris Christopher Oldmeadow Teemu Palviainen Antony Payton Raha Pazoki Katja Petrovic Chandra A Reynolds Muralidharan Sargurupremraj Markus Scholz Jennifer A Smith Albert V Smith Natalie Terzikhan Anbupalam Thalamuthu Stella Trompet Sven J van der Lee Erin B Ware B Gwen Windham Margaret J Wright Jingyun Yang Jin Yu David Ames Najaf Amin Philippe Amouyel Ole A Andreassen Nicola J Armstrong Amelia A Assareh John R Attia Deborah Attix Dimitrios Avramopoulos David A Bennett Anne C Böhmer Patricia A Boyle Henry Brodaty Harry Campbell Tyrone D Cannon Elizabeth T Cirulli Eliza Congdon Emily Drabant Conley Janie Corley Simon R Cox Anders M Dale Abbas Dehghan Danielle Dick Dwight Dickinson Johan G Eriksson Evangelos Evangelou Jessica D Faul Ian Ford Nelson A Freimer He Gao Ina Giegling Nathan A Gillespie Scott D Gordon Rebecca F Gottesman Michael E Griswold Vilmundur Gudnason Tamara B Harris Annette M Hartmann Alex Hatzimanolis Gerardo Heiss Elizabeth G Holliday Peter K Joshi Mika Kähönen Sharon L R Kardia Ida Karlsson Luca Kleineidam David S Knopman Nicole A Kochan Bettina Konte John B Kwok Stephanie Le Hellard Teresa Lee Terho Lehtimäki Shu-Chen Li Christina M Lill Tian Liu Marisa Koini Edythe London Will T Longstreth Oscar L Lopez Anu Loukola Tobias Luck Astri J Lundervold Anders Lundquist Leo-Pekka Lyytikäinen Nicholas G Martin Grant W Montgomery Alison D Murray Anna C Need Raymond Noordam Lars Nyberg William Ollier Goran Papenberg Alison Pattie Ozren Polasek Russell A Poldrack Bruce M Psaty Simone Reppermund Steffi G Riedel-Heller Richard J Rose Jerome I Rotter Panos Roussos Suvi P Rovio Yasaman Saba Fred W Sabb Perminder S Sachdev Claudia L Satizabal Matthias Schmid Rodney J Scott Matthew A Scult Jeannette Simino P Eline Slagboom Nikolaos Smyrnis Aïcha Soumaré Nikos C Stefanis David J Stott Richard E Straub Kjetil Sundet Adele M Taylor Kent D Taylor Ioanna Tzoulaki Christophe Tzourio André Uitterlinden Veronique Vitart Aristotle N Voineskos Jaakko Kaprio Michael Wagner Holger Wagner Leonie Weinhold K Hoyan Wen Elisabeth Widen Qiong Yang Wei Zhao Hieab H H Adams Dan E Arking Robert M Bilder Panos Bitsios Eric Boerwinkle Ornit Chiba-Falek Aiden Corvin Philip L De Jager Stéphanie Debette Gary Donohoe Paul Elliott Annette L Fitzpatrick Michael Gill David C Glahn Sara Hägg Narelle K Hansell Ahmad R Hariri M Kamran Ikram J Wouter Jukema Eero Vuoksimaa Matthew C Keller William S Kremen Lenore Launer Ulman Lindenberger Aarno Palotie Nancy L Pedersen Neil Pendleton David J Porteous Katri Räikkönen Olli T Raitakari Alfredo Ramirez Ivar Reinvang Igor Rudan Dan Rujescu Reinhold Schmidt Helena Schmidt Peter W Schofield Peter R Schofield John M Starr Vidar M Steen Julian N Trollor Steven T Turner Cornelia M Van Duijn Arno Villringer Daniel R Weinberger David R Weir James F Wilson Anil Malhotra Andrew M McIntosh Catharine R Gale Sudha Seshadri Thomas H Mosley Jan Bressler Todd Lencz Ian J Deary

Nat Commun 2019 May 1;10(1):2068. Epub 2019 May 1.

Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, School of Philosophy, Psychology and Language Sciences, The University of Edinburgh, Edinburgh, EH8 9JZ, UK.

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http://dx.doi.org/10.1038/s41467-019-10160-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6494826PMC
May 2019

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 May 27. 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
May 2019

"In vitro" capacitation and further progesterone-induced acrosome exocytosis are linked to specific changes in the expression and location of threonine phosphorylation of boar spermatozoa.

Reprod Domest Anim 2019 May 30. Epub 2019 May 30.

Dept. Animal Medicine and Surgery, School of Veterinary Medicine, Autonomous University of Barcelona, Bellaterra, Spain.

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http://dx.doi.org/10.1111/rda.13478DOI Listing
May 2019

Reply: Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.

Brain 2019 Apr;142(4):e13

Division for Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Medical Faculty, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1093/brain/awz042DOI Listing
April 2019

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

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gena Roschupkin 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

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

Blood-derived integration-free iPS cell line UKBi011-A from a diagnosed male Alzheimer's disease patient with APOE ɛ4/ɛ4 genotype.

Stem Cell Res 2018 05 23;29:250-253. Epub 2018 Apr 23.

Institute of Reconstructive Neurobiology, Life & Brain Center, University of Bonn Medical Faculty, Bonn 53127, Germany,. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.04.011DOI Listing
May 2018

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

Authors:
Gail Davies Max Lam Sarah E Harris Joey W Trampush Michelle Luciano W David Hill Saskia P Hagenaars Stuart J Ritchie Riccardo E Marioni Chloe Fawns-Ritchie David C M Liewald Judith A Okely Ari V Ahola-Olli Catriona L K Barnes Lars Bertram Joshua C Bis Katherine E Burdick Andrea Christoforou Pamela DeRosse Srdjan Djurovic Thomas Espeseth Stella Giakoumaki Sudheer Giddaluru Daniel E Gustavson Caroline Hayward Edith Hofer M Arfan Ikram Robert Karlsson Emma Knowles Jari Lahti Markus Leber Shuo Li Karen A Mather Ingrid Melle Derek Morris Christopher Oldmeadow Teemu Palviainen Antony Payton Raha Pazoki Katja Petrovic Chandra A Reynolds Muralidharan Sargurupremraj Markus Scholz Jennifer A Smith Albert V Smith Natalie Terzikhan Anbupalam Thalamuthu Stella Trompet Sven J van der Lee Erin B Ware B Gwen Windham Margaret J Wright Jingyun Yang Jin Yu David Ames Najaf Amin Philippe Amouyel Ole A Andreassen Nicola J Armstrong Amelia A Assareh John R Attia Deborah Attix Dimitrios Avramopoulos David A Bennett Anne C Böhmer Patricia A Boyle Henry Brodaty Harry Campbell Tyrone D Cannon Elizabeth T Cirulli Eliza Congdon Emily Drabant Conley Janie Corley Simon R Cox Anders M Dale Abbas Dehghan Danielle Dick Dwight Dickinson Johan G Eriksson Evangelos Evangelou Jessica D Faul Ian Ford Nelson A Freimer He Gao Ina Giegling Nathan A Gillespie Scott D Gordon Rebecca F Gottesman Michael E Griswold Vilmundur Gudnason Tamara B Harris Annette M Hartmann Alex Hatzimanolis Gerardo Heiss Elizabeth G Holliday Peter K Joshi Mika Kähönen Sharon L R Kardia Ida Karlsson Luca Kleineidam David S Knopman Nicole A Kochan Bettina Konte John B Kwok Stephanie Le Hellard Teresa Lee Terho Lehtimäki Shu-Chen Li Christina M Lill Tian Liu Marisa Koini Edythe London Will T Longstreth Oscar L Lopez Anu Loukola Tobias Luck Astri J Lundervold Anders Lundquist Leo-Pekka Lyytikäinen Nicholas G Martin Grant W Montgomery Alison D Murray Anna C Need Raymond Noordam Lars Nyberg William Ollier Goran Papenberg Alison Pattie Ozren Polasek Russell A Poldrack Bruce M Psaty Simone Reppermund Steffi G Riedel-Heller Richard J Rose Jerome I Rotter Panos Roussos Suvi P Rovio Yasaman Saba Fred W Sabb Perminder S Sachdev Claudia L Satizabal Matthias Schmid Rodney J Scott Matthew A Scult Jeannette Simino P Eline Slagboom Nikolaos Smyrnis Aïcha Soumaré Nikos C Stefanis David J Stott Richard E Straub Kjetil Sundet Adele M Taylor Kent D Taylor Ioanna Tzoulaki Christophe Tzourio André Uitterlinden Veronique Vitart Aristotle N Voineskos Jaakko Kaprio Michael Wagner Holger Wagner Leonie Weinhold K Hoyan Wen Elisabeth Widen Qiong Yang Wei Zhao Hieab H H Adams Dan E Arking Robert M Bilder Panos Bitsios Eric Boerwinkle Ornit Chiba-Falek Aiden Corvin Philip L De Jager Stéphanie Debette Gary Donohoe Paul Elliott Annette L Fitzpatrick Michael Gill David C Glahn Sara Hägg Narelle K Hansell Ahmad R Hariri M Kamran Ikram J Wouter Jukema Eero Vuoksimaa Matthew C Keller William S Kremen Lenore Launer Ulman Lindenberger Aarno Palotie Nancy L Pedersen Neil Pendleton David J Porteous Katri Räikkönen Olli T Raitakari Alfredo Ramirez Ivar Reinvang Igor Rudan Dan Rujescu Reinhold Schmidt Helena Schmidt Peter W Schofield Peter R Schofield John M Starr Vidar M Steen Julian N Trollor Steven T Turner Cornelia M Van Duijn Arno Villringer Daniel R Weinberger David R Weir James F Wilson Anil Malhotra Andrew M McIntosh Catharine R Gale Sudha Seshadri Thomas H Mosley Jan Bressler Todd Lencz Ian J Deary

Nat Commun 2018 05 29;9(1):2098. Epub 2018 May 29.

Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, School of Philosophy, Psychology and Language Sciences, The University of Edinburgh, Edinburgh, EH8 9JZ, UK.

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http://dx.doi.org/10.1038/s41467-018-04362-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974083PMC
May 2018

An elderly woman with a mediastinal granulosa cell tumour: a rare presentation.

Respirol Case Rep 2018 02 22;6(2):e00290. Epub 2017 Dec 22.

Department of Cardiothoracic Surgery Naval Medical Center San Diego San Diego CA USA.

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http://dx.doi.org/10.1002/rcr2.290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5756714PMC
February 2018

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

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

TREM2 rare variant p.R47H is not associated with Parkinson's disease.

Parkinsonism Relat Disord 2016 Feb 25;23:109-11. Epub 2015 Nov 25.

Department of Psychiatry and Psychotherapy, University of Bonn, 53127 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.11.026DOI Listing
February 2016

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

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

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

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

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

Rare variant testing of imputed data: an analysis pipeline typified.

Hum Hered 2014 10;78(3-4):164-78. Epub 2014 Dec 10.

German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.

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http://dx.doi.org/10.1159/000368676DOI Listing
September 2015

Population-Based Genetic Studies: The Search for Causative Variants in Parkinson's Disease.

Authors:
Alfredo Ramirez

Mov Disord 2015 Sep 30;30(10):1297-300. Epub 2015 Jul 30.

Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/mds.26341DOI Listing
September 2015

Water contaminated with Didymosphenia geminata generates changes in Salmo salar spermatozoa activation times.

Aquat Toxicol 2015 Jun 8;163:102-8. Epub 2015 Apr 8.

Laboratorio Fisiología de la Reproducción, Escuela de Medicina Veterinaria, Núcleo de Investigación en Producción Alimentaria, Facultad de Recursos Naturales, Universidad Católica de Temuco, Chile. Electronic address:

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http://dx.doi.org/10.1016/j.aquatox.2015.03.022DOI Listing
June 2015

DNA methylation of the TNF-α promoter region in peripheral blood monocytes and the cortex of human Alzheimer's disease patients.

Dement Geriatr Cogn Disord 2014 19;38(1-2):10-5. Epub 2014 Feb 19.

Department of Neurology, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1159/000357126DOI Listing
March 2015

Influence of genetic variants in SORL1 gene on the manifestation of Alzheimer's disease.

Neurobiol Aging 2015 Mar 11;36(3):1605.e13-20. Epub 2014 Dec 11.

Alzheimer Center and Department of Neurology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, the Netherlands; Department of Epidemiology and Biostatistics, VU University Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.007DOI Listing
March 2015

A new high-resolution spectral approach to noninvasively evaluate wall deformations in arteries.

Comput Math Methods Med 2014 13;2014:606202. Epub 2014 Feb 13.

ESIME Zacatenco, Instituto Politécnico Nacional (IPN), Avenue IPN, s/n, 07738 Mexico, DF, Mexico.

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http://dx.doi.org/10.1155/2014/606202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943247PMC
December 2014

The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk.

Neurology 2014 Oct 3;83(15):1353-8. Epub 2014 Sep 3.

From the MassGeneral Institute for Neurodegenerative Diseases (B.V.H., A.R.P., K.M., R.E.T.), Department of Neurology, Massachusetts General Hospital, Boston; Department of Biostatistics (W.-K.Y., D.Q., C.L.), Harvard School of Public Health, Boston, MA; Department of Vertebrate Genomics (T.L., J.T.R., L.B.), Max Planck Institute for Molecular Genetics, Berlin; Department of Psychiatry and Psychotherapy (F.J., A.R.), Institute for Medical Biometry, Informatics and Epidemiology (T.B.), and Institute of Human Genetics (A.R.), University of Bonn; German Center for Neurodegenerative Diseases (DZNE) (F.J., T.B.), Bonn; and Department of Psychiatry (O.P.), Charité University Medicine, Berlin, Germany.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000085
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http://dx.doi.org/10.1212/WNL.0000000000000855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189101PMC
October 2014

A one-degree-of-freedom test for supra-multiplicativity of SNP effects.

PLoS One 2013 30;8(10):e78038. Epub 2013 Oct 30.

German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany ; Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts, United States of America.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3813579PMC
September 2014

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

Acta Neuropathol 2014 Sep 5;128(3):397-410. Epub 2014 Jun 5.

Department of Molecular Genetics, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00401-014-1298-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131163PMC
September 2014

Cardiac gated computed tomography used to confirm iatrogenic aortic valve leaflet perforation after mitral valve replacement.

Case Rep Cardiol 2013 4;2013:528439. Epub 2013 Mar 4.

Department of Cardiology, Naval Medical Center San Diego, San Diego, CA 92101, USA.

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http://dx.doi.org/10.1155/2013/528439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4008245PMC
May 2014

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.

Authors:
Julie van der Zee Ilse Gijselinck Lubina Dillen Tim Van Langenhove Jessie Theuns Sebastiaan Engelborghs Stéphanie Philtjens Mathieu Vandenbulcke Kristel Sleegers Anne Sieben Veerle Bäumer Githa Maes Ellen Corsmit Barbara Borroni Alessandro Padovani Silvana Archetti Robert Perneczky Janine Diehl-Schmid Alexandre de Mendonça Gabriel Miltenberger-Miltenyi Sónia Pereira José Pimentel Benedetta Nacmias Silvia Bagnoli Sandro Sorbi Caroline Graff Huei-Hsin Chiang Marie Westerlund Raquel Sanchez-Valle Albert Llado Ellen Gelpi Isabel Santana Maria Rosário Almeida Beatriz Santiago Giovanni Frisoni Orazio Zanetti Cristian Bonvicini Matthis Synofzik Walter Maetzler Jennifer Müller Vom Hagen Ludger Schöls Michael T Heneka Frank Jessen Radoslav Matej Eva Parobkova Gabor G Kovacs Thomas Ströbel Stayko Sarafov Ivailo Tournev Albena Jordanova Adrian Danek Thomas Arzberger Gian Maria Fabrizi Silvia Testi Eric Salmon Patrick Santens Jean-Jacques Martin Patrick Cras Rik Vandenberghe Peter Paul De Deyn Marc Cruts Christine Van Broeckhoven Julie van der Zee Ilse Gijselinck Lubina Dillen Tim Van Langenhove Jessie Theuns Stéphanie Philtjens Kristel Sleegers Veerle Bäumer Githa Maes Ellen Corsmit Marc Cruts Christine Van Broeckhoven Julie van der Zee Ilse Gijselinck Lubina Dillen Tim Van Langenhove Stéphanie Philtjens Jessie Theuns Kristel Sleegers Veerle Bäumer Githa Maes Marc Cruts Christine Van Broeckhoven Sebastiaan Engelborghs Peter P De Deyn Patrick Cras Sebastiaan Engelborghs Peter P De Deyn Mathieu Vandenbulcke Mathieu Vandenbulcke Barbara Borroni Alessandro Padovani Silvana Archetti Robert Perneczky Janine Diehl-Schmid Matthis Synofzik Walter Maetzler Jennifer Müller Vom Hagen Ludger Schöls Matthis Synofzik Walter Maetzler Jennifer Müller Vom Hagen Ludger Schöls Michael T Heneka Frank Jessen Alfredo Ramirez Delia Kurzwelly Carmen Sachtleben Wolfgang Mairer Alexandre de Mendonça Gabriel Miltenberger-Miltenyi Sónia Pereira Clara Firmo José Pimentel Raquel Sanchez-Valle Albert Llado Anna Antonell Jose Molinuevo Ellen Gelpi Caroline Graff Huei-Hsin Chiang Marie Westerlund Caroline Graff Anne Kinhult Ståhlbom Håkan Thonberg Inger Nennesmo Anne Börjesson-Hanson Benedetta Nacmias Silvia Bagnoli Sandro Sorbi Valentina Bessi Irene Piaceri Isabel Santana Beatriz Santiago Isabel Santana Maria Helena Ribeiro Maria Rosário Almeida Catarina Oliveira João Massano Carolina Garret Paula Pires Giovanni Frisoni Orazio Zanetti Cristian Bonvicini Stayko Sarafov Ivailo Tournev Albena Jordanova Ivailo Tournev Gabor G Kovacs Thomas Ströbel Michael T Heneka Frank Jessen Alfredo Ramirez Delia Kurzwelly Carmen Sachtleben Wolfgang Mairer Frank Jessen Radoslav Matej Eva Parobkova Adrian Danel Thomas Arzberger Gian Maria Fabrizi Silvia Testi Sergio Ferrari Tiziana Cavallaro Eric Salmon Patrick Santens Patrick Cras

Hum Mutat 2013 Feb 4;34(2):363-73. Epub 2013 Jan 4.

Department of Molecular Genetics, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.22244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638346PMC
February 2013

[Cardiac hydatidosis: Report of one case].

Rev Med Chil 2012 Nov;140(11):1449-52

Servicio Cardiovascular, Instituto Nacional del Tórax, Santiago, Chile.

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http://dx.doi.org/10.4067/S0034-98872012001100011DOI Listing
November 2012

Lysosomal dysfunction in Parkinson disease: ATP13A2 gets into the groove.

Autophagy 2012 Sep 13;8(9):1389-91. Epub 2012 Aug 13.

Institut des Maladies Neurodégénératives, Université de Bordeaux, CNRS UMR 5293, Bordeaux, France.

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http://dx.doi.org/10.4161/auto.21011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3442887PMC
September 2012

ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.

Neurobiol Aging 2012 Aug 31;33(8):1843.e1-7. Epub 2012 Jan 31.

Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.12.035DOI Listing
August 2012

Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.

Proc Natl Acad Sci U S A 2012 Jun 30;109(24):9611-6. Epub 2012 May 30.

Insitute of Neurodegenerative Diseases, University of Bordeaux Segalen, Centre National de la Recherche Scientifique Unité Mixte de Recherche 5293, 33076 Bordeaux, France.

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http://dx.doi.org/10.1073/pnas.1112368109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3386132PMC
June 2012

Gerbode defect with Staphylococcus lugdunensis native tricuspid valve infective endocarditis.

J Card Surg 2012 May 13;27(3):316-20. Epub 2012 Feb 13.

Department of Infectious Diseases, Naval Medical Center San Diego, San Diego, California 92134, USA.

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http://dx.doi.org/10.1111/j.1540-8191.2011.01379.xDOI Listing
May 2012

Giant gastric ulcer: a challenging diagnosis in the deployed military environment.

Mil Med 2012 Mar;177(3):355-8

Division of Radiation Oncology, Naval Medical Center Portsmouth, 620 John Paul Jones Circle, Portsmouth, VA 23708, USA.

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http://dx.doi.org/10.7205/milmed-d-11-00295DOI Listing
March 2012

An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech.

Mov Disord 2011 Oct 23;26(12):2279-83. Epub 2011 Sep 23.

School of Biological Sciences, University of the Punjab, Lahore, Pakistan.

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http://dx.doi.org/10.1002/mds.23860DOI Listing
October 2011

Homozygous THAP1 mutations as cause of early-onset generalized dystonia.

Mov Disord 2011 Apr 21;26(5):858-61. Epub 2011 Mar 21.

Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/mds.23561DOI Listing
April 2011

Clinical and genetic analysis of a Chilean family with early-onset autosomal dominant Alzheimer's disease.

J Alzheimers Dis 2010 ;21(3):757-61

Departamento de Neurología Neurocirugía, Hospital Clínico de la Universidad de Chile, Santiago, Chile.

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http://dx.doi.org/10.3233/JAD-2010-100135DOI Listing
January 2011

Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.

Arch Neurol 2010 Nov;67(11):1357-63

Schilling Section of Clinical and Molecular Neurogenetics and Department of Neurology, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

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http://dx.doi.org/10.1001/archneurol.2010.281DOI Listing
November 2010

Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients.

Hum Mol Genet 2010 Aug 27;19(16):3124-37. Epub 2010 May 27.

Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck, 23562 Lübeck, Germany.

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August 2010

Ischemic stroke as the first manifestation of severe ventricular hypertrabeculation/non-compaction.

Arq Bras Cardiol 2010 Mar;94(3):e28-30, e88-90

Departamento de Neurologia e Neurocirurgia, Hospital de Clínicas, Escola de Medicina, Universidade do Chile, Independencia, Santiago, Chile.

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March 2010

[Coronary artery origin anomalies. Analysis of 10.000 coronary angiographies].

Rev Med Chil 2010 Jan 26;138(1):7-14. Epub 2010 Mar 26.

Laboratorio de hemodinamia. Departamento Cardiovascular. Hospital Clínico Universidad de Chile.

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http://dx.doi.org//S0034-98872010000100001DOI Listing
January 2010

Marlin-1 is expressed in testis and associates to the cytoskeleton and GABAB receptors.

J Cell Biochem 2008 Feb;103(3):886-95

Institute of Biochemistry, Universidad Austral de Chile, Isla Teja, Valdivia, Chile.

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http://dx.doi.org/10.1002/jcb.21456DOI Listing
February 2008

A functional dynein-microtubule network is required for NGF signaling through the Rap1/MAPK pathway.

Traffic 2007 Nov 6;8(11):1503-20. Epub 2007 Sep 6.

Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1111/j.1600-0854.2007.00636.xDOI Listing
November 2007

One at a time, live tracking of NGF axonal transport using quantum dots.

Proc Natl Acad Sci U S A 2007 Aug 14;104(34):13666-71. Epub 2007 Aug 14.

Department of Physics, Stanford University, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1073/pnas.0706192104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1959439PMC
August 2007

[Coronary angiography: indications, results and complications in 5.000 consecutive patients].

Rev Med Chil 2007 Jul 6;135(7):829-38. Epub 2007 Sep 6.

Servicio de Hemodinamia, Centro Cardiovascular, Hospital Clínico, Universidad de ChileChile, Chile.

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http://dx.doi.org//S0034-98872007000700002DOI Listing
July 2007

[Acute and long-term clinical results of bare metal coronary stenting].

Rev Med Chil 2007 May 9;135(5):558-65. Epub 2007 Jul 9.

Laboratorio de Hemodinamia, Centro Cardiovascular, Hospital Clínico, Universidad de Chile, Santiago, Chile.

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http://dx.doi.org//S0034-98872007000500002DOI Listing
May 2007

Novel identification of peripheral dopaminergic D2 receptor in male germ cells.

J Cell Biochem 2007 Jan;100(1):141-50

Instituto de Bioquímica, Facultad de Ciencias, Universidad Austral de Chile, Valdivia, Chile.

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http://dx.doi.org/10.1002/jcb.21037DOI Listing
January 2007

Successful percutaneous closure of paraprosthetic aorto-right ventricular leak using the Amplatzer duct occluder.

Catheter Cardiovasc Interv 2006 Jun;67(6):976-80

Centro Cardiovascular Hospital Clínico Universidad de Chile, Santiago, Chile.

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http://dx.doi.org/10.1002/ccd.20720DOI Listing
June 2006