Vivianna van Deerlin

Vivianna van Deerlin

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Vivianna van Deerlin

Vivianna van Deerlin

Publications by authors named "Vivianna van Deerlin"

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C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy.

Authors:
Christopher P Cali Maribel Patino Yee Kit Tai Wan Yun Ho Catriona A McLean Christopher M Morris William W Seeley Bruce L Miller Carles Gaig Jean Paul G Vonsattel Charles L White Sigrun Roeber Hans Kretzschmar Juan C Troncoso Claire Troakes Marla Gearing Bernardino Ghetti Vivianna M Van Deerlin Virginia M-Y Lee John Q Trojanowski Kin Y Mok Helen Ling Dennis W Dickson Gerard D Schellenberg Shuo-Chien Ling Edward B Lee

Acta Neuropathol 2019 Nov 20;138(5):795-811. Epub 2019 Jul 20.

Translational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, University of Pennsylvania, 613A Stellar Chance Laboratories, 422 Curie Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s00401-019-02045-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6802287PMC
November 2019

Genetic predictors of survival in behavioral variant frontotemporal degeneration.

Authors:
Carrie Caswell Corey T McMillan Sharon X Xie Vivianna M Van Deerlin EunRan Suh Edward B Lee John Q Trojanowski Virginia M-Y Lee David J Irwin Murray Grossman Lauren M Massimo

Neurology 2019 Oct 19;93(18):e1707-e1714. Epub 2019 Sep 19.

From the Department of Biostatistics, Epidemiology, and Informatics (C.C., S.X.X.), Department of Neurology (C.T.M., D.J.I., M.G., L.M.M.), Penn Frontotemporal Degeneration Center (C.T.M., D.J.I., M.G., L.M.M.), Translational Neuropathology Research Laboratory (E.B.L.), Department of Pathology and Laboratory Medicine (V.M.V.D., E.B.L., J.Q.T., V.M.-Y.L.), and Center for Neurodegenerative Disease Research (V.M.V.D., E.S., E.B.L., J.Q.T., V.M.-Y.L.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/WNL.0000000000008387DOI Listing
October 2019

Transplanting hepatitis C virus-infected hearts into uninfected recipients: A single-arm trial.

Authors:
Rhondalyn C McLean Peter P Reese Michael Acker Pavan Atluri Christian Bermudez Lee R Goldberg Peter L Abt Emily A Blumberg Vivianna M Van Deerlin K Rajender Reddy Roy D Bloom Richard Hasz Lawrence Suplee Anna Sicilia Ashley Woodards Muhammad Nauman Zahid Katharine J Bar Paige Porrett Matthew H Levine Nicole Hornsby Caren Gentile Jennifer Smith David S Goldberg

Am J Transplant 2019 Sep 20;19(9):2533-2542. Epub 2019 Mar 20.

Renal-Electrolyte and Hypertension Division, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1111/ajt.15311DOI Listing
September 2019

Early emergence of anti-HCV antibody implicates donor origin in recipients of an HCV-infected organ.

Authors:
Paige M Porrett Peter P Reese Vera Holzmayer Kelly E Coller Mary Kuhns Vivianna M Van Deerlin Caren Gentile Jennifer R Smith Anna Sicilia Ashley Woodards Rhondalyn McLean Peter Abt Roy D Bloom K Rajender Reddy Emily Blumberg Gavin Cloherty David Goldberg

Am J Transplant 2019 Sep 28;19(9):2525-2532. Epub 2019 May 28.

Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1111/ajt.15415DOI Listing
September 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 Sep;51(9):1423-1424

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
September 2019

Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts.

Authors:
Hirotaka Iwaki Cornelis Blauwendraat Hampton L Leonard Jonggeol J Kim Ganqiang Liu Jodi Maple-Grødem Jean-Christophe Corvol Lasse Pihlstrøm Marlies van Nimwegen Samantha J Hutten Khanh-Dung H Nguyen Jacqueline Rick Shirley Eberly Faraz Faghri Peggy Auinger Kirsten M Scott Ruwani Wijeyekoon Vivianna M Van Deerlin Dena G Hernandez J Raphael Gibbs Kumaraswamy Naidu Chitrala Aaron G Day-Williams Alexis Brice Guido Alves Alastair J Noyce Ole-Bjørn Tysnes Jonathan R Evans David P Breen Karol Estrada Claire E Wegel Fabrice Danjou David K Simon Ole Andreassen Bernard Ravina Mathias Toft Peter Heutink Bastiaan R Bloem Daniel Weintraub Roger A Barker Caroline H Williams-Gray Bart P van de Warrenburg Jacobus J Van Hilten Clemens R Scherzer Andrew B Singleton Mike A Nalls

Mov Disord 2019 Sep 10. Epub 2019 Sep 10.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/mds.27845DOI Listing
September 2019

Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts.

Authors:
Hirotaka Iwaki Cornelis Blauwendraat Hampton L Leonard Ganqiang Liu Jodi Maple-Grødem Jean-Christophe Corvol Lasse Pihlstrøm Marlies van Nimwegen Samantha J Hutten Khanh-Dung H Nguyen Jacqueline Rick Shirley Eberly Faraz Faghri Peggy Auinger Kirsten M Scott Ruwani Wijeyekoon Vivianna M Van Deerlin Dena G Hernandez Aaron G Day-Williams Alexis Brice Guido Alves Alastair J Noyce Ole-Bjørn Tysnes Jonathan R Evans David P Breen Karol Estrada Claire E Wegel Fabrice Danjou David K Simon Bernard Ravina Mathias Toft Peter Heutink Bastiaan R Bloem Daniel Weintraub Roger A Barker Caroline H Williams-Gray Bart P van de Warrenburg Jacobus J Van Hilten Clemens R Scherzer Andrew B Singleton Mike A Nalls

Neurol Genet 2019 Aug 9;5(4):e348. Epub 2019 Jul 9.

Laboratory of Neurogenetics (H.I., C.B., H.L.L., F.F., D.G.H., A.B.S., M.A.N.), National Institute on Aging, National Institutes of Health, Bethesda; Data Tecnica International (H.I., M.A.N.), Glen Echo, MD; Precision Neurology Program (G.L., C.R.S.), Harvard Medical School, Brigham and Women's Hospital; Neurogenomics Laboratory (G.L., C.R.S.), Harvard Medical School, Brigham and Women's Hospital; Ann Romney Center for Neurologic Diseases (G.L., C.R.S.), Brigham and Women's Hospital, Boston, MA; The Norwegian Centre for Movement Disorders (J.M.-G., G.A.), Stavanger University Hospital; Department of Chemistry (J.M.-G., G.A.), Bioscience and Environmental Engineering, University of Stavanger, Norway; Assistance-Publique Hôpitaux de Paris (J.-C.C.), ICM, INSERM UMRS 1127, CNRS 7225, ICM, Department of Neurology and CIC Neurosciences, Pitié-Salpêtrière Hospital, Paris, France; Department of Neurology (L.P., M.T.), Oslo University Hospital, Norway; Department of Neurology (M.N., B.R.B., B.P.W.), Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands; Michael J Fox Foundation (S.J.H.), New York; Translational Genome Sciences (K.-D.H.N, K.E.), Biogen, Cambridge, MA; Department of Neurology University of Pennsylvania (J.R.), Philadelphia, PA; Department of Biostatistics and Computational Biology (S.E.), University of Rochester, NY; Department of Computer Science (F.F.), University of Illinois Urbana-Champaign; Department of Neurology (P.A.), Center for Health + Technology, University of Rochester, NY; Department of Clinical Neurosciences (K.M.S., R.W.), University of Cambridge, John van Geest Centre for Brain Repair, UK; Department of Pathology and Laboratory Medicine (V.M.V.D.), Center for Neurodegenerative Disease Research, Parelman School of Medicine at the University of Pennsylvania, Philadelphia; Genetics and Pharmacogenomics (A.G.D.-W.), Merck Research Laboratory, Boston, MA; Statistical Genetics (A.G.D.-W.), Biogen, Cambridge, MA; Institut du cerveau et de la moelle épinière ICM (A.B., F.D.); Sorbonne Université SU (A.B.); INSERM UMR (A.B.), Paris, France; Department of Neurology (G.A.), Stavanger University Hospital, Norway; Preventive Neurology Unit (A.J.N.), Wolfson Institute of Preventive Medicine, Queen Mary University of London; Department of Molecular Neuroscience (A.J.N.), UCL Institute of Neurology, London, UK; Department of Neurology (O.-B.T.), Haukeland University Hospital; University of Bergen (O.-B.T.), Bergen, Norway; Department of Neurology (J.R.E.), Nottingham University NHS Trust, UK; Centre for Clinical Brain Sciences (D.P.B.), University of Edinburgh; Anne Rowling Regenerative Neurology Clinic (D.P.B.), University of Edinburgh; Usher Institute of Population Health Sciences and Informatics (D.P.B.), University of Edinburgh, Scotland; Department of Medical and Molecular Genetics (C.E.W.), Indiana University, Indianapolis; Department of Neurology (D.K.S.), Beth Israel Deaconess Medical Center; Harvard Medical School (D.K.S.), Boston; Voyager Therapeutics (B.R.), Cambridge, MA; Department of Neurology (B.R.), University of Rochester School of Medicine, NY; Institute of Clinical Medicine (M.T.), University of Oslo, Norway; German Center for Neurodegenerative Diseases-Tubingen (P.H.); HIH Tuebingen (P.H.), Germany; Department of Psychiatry (D.W.), University of Pennsylvania School of Medicine; Department of Veterans Affairs (D.W.), Philadelphia, PA; and Department of Clinical Neurosciences (R.A.B., C.H.W.-G.), University of Cambridge, UK; Department of Neurology (J.J.V.H.), Leiden University Medical Center, The Netherlands.

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http://dx.doi.org/10.1212/NXG.0000000000000348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659137PMC
August 2019

Heritability and genetic variance of dementia with Lewy bodies.

Authors:
Rita Guerreiro Valentina Escott-Price Dena G Hernandez Celia Kun-Rodrigues Owen A Ross Tatiana Orme Joao Luis Neto Susana Carmona Nadia Dehghani John D Eicher Claire Shepherd Laura Parkkinen Lee Darwent Michael G Heckman Sonja W Scholz Juan C Troncoso Olga Pletnikova Ted Dawson Liana Rosenthal Olaf Ansorge Jordi Clarimon Alberto Lleo Estrella Morenas-Rodriguez Lorraine Clark Lawrence S Honig Karen Marder Afina Lemstra Ekaterina Rogaeva Peter St George-Hyslop Elisabet Londos Henrik Zetterberg Imelda Barber Anne Braae Kristelle Brown Kevin Morgan Claire Troakes Safa Al-Sarraj Tammaryn Lashley Janice Holton Yaroslau Compta Vivianna Van Deerlin Geidy E Serrano Thomas G Beach Suzanne Lesage Douglas Galasko Eliezer Masliah Isabel Santana Pau Pastor Monica Diez-Fairen Miquel Aguilar Pentti J Tienari Liisa Myllykangas Minna Oinas Tamas Revesz Andrew Lees Brad F Boeve Ronald C Petersen Tanis J Ferman Neill Graff-Radford Nigel J Cairns John C Morris Stuart Pickering-Brown David Mann Glenda M Halliday John Hardy John Q Trojanowski Dennis W Dickson Andrew Singleton David J Stone Jose Bras

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

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Authors:
Cyril Pottier Yingxue Ren Ralph B Perkerson Matt Baker Gregory D Jenkins Marka van Blitterswijk Mariely DeJesus-Hernandez Jeroen G J van Rooij Melissa E Murray Elizabeth Christopher Shannon K McDonnell Zachary Fogarty Anthony Batzler Shulan Tian Cristina T Vicente Billie Matchett Anna M Karydas Ging-Yuek Robin Hsiung Harro Seelaar Merel O Mol Elizabeth C Finger Caroline Graff Linn Öijerstedt Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Johannes Prudlo Patrizia Rizzu Javier Simon-Sanchez Dieter Edbauer Sigrun Roeber Janine Diehl-Schmid Bret M Evers Andrew King M Marsel Mesulam Sandra Weintraub Changiz Geula Kevin F Bieniek Leonard Petrucelli Geoffrey L Ahern Eric M Reiman Bryan K Woodruff Richard J Caselli Edward D Huey Martin R Farlow Jordan Grafman Simon Mead Lea T Grinberg Salvatore Spina Murray Grossman David J Irwin Edward B Lee EunRan Suh Julie Snowden David Mann Nilufer Ertekin-Taner Ryan J Uitti Zbigniew K Wszolek Keith A Josephs Joseph E Parisi David S Knopman Ronald C Petersen John R Hodges Olivier Piguet Ethan G Geier Jennifer S Yokoyama Robert A Rissman Ekaterina Rogaeva Julia Keith Lorne Zinman Maria Carmela Tartaglia Nigel J Cairns Carlos Cruchaga Bernardino Ghetti Julia Kofler Oscar L Lopez Thomas G Beach Thomas Arzberger Jochen Herms Lawrence S Honig Jean Paul Vonsattel Glenda M Halliday John B Kwok Charles L White Marla Gearing Jonathan Glass Sara Rollinson Stuart Pickering-Brown Jonathan D Rohrer John Q Trojanowski Vivianna Van Deerlin Eileen H Bigio Claire Troakes Safa Al-Sarraj Yan Asmann Bruce L Miller Neill R Graff-Radford Bradley F Boeve William W Seeley Ian R A Mackenzie John C van Swieten Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Acta Neuropathol 2019 Jun 9;137(6):879-899. Epub 2019 Feb 9.

Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.

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http://link.springer.com/10.1007/s00401-019-01962-9
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http://dx.doi.org/10.1007/s00401-019-01962-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533145PMC
June 2019

TMEM106B Effect on cognition in Parkinson disease and frontotemporal dementia.

Authors:
Thomas F Tropea Jordan Mak Michael H Guo Sharon X Xie Eunran Suh Jacqueline Rick Andrew Siderowf Daniel Weintraub Murray Grossman David Irwin David A Wolk John Q Trojanowski Vivianna Van Deerlin Alice S Chen-Plotkin

Ann Neurol 2019 Jun;85(6):801-811

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

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http://dx.doi.org/10.1002/ana.25486DOI Listing
June 2019

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

Authors:
Celia Kun-Rodrigues Tatiana Orme Susana Carmona Dena G Hernandez Owen A Ross John D Eicher Claire Shepherd Laura Parkkinen Lee Darwent Michael G Heckman Sonja W Scholz Juan C Troncoso Olga Pletnikova Ted Dawson Liana Rosenthal Olaf Ansorge Jordi Clarimon Alberto Lleo Estrella Morenas-Rodriguez Lorraine Clark Lawrence S Honig Karen Marder Afina Lemstra Ekaterina Rogaeva Peter St George-Hyslop Elisabet Londos Henrik Zetterberg Imelda Barber Anne Braae Kristelle Brown Kevin Morgan Claire Troakes Safa Al-Sarraj Tammaryn Lashley Janice Holton Yaroslau Compta Vivianna Van Deerlin Geidy E Serrano Thomas G Beach Suzanne Lesage Douglas Galasko Eliezer Masliah Isabel Santana Pau Pastor Monica Diez-Fairen Miquel Aguilar Pentti J Tienari Liisa Myllykangas Minna Oinas Tamas Revesz Andrew Lees Brad F Boeve Ronald C Petersen Tanis J Ferman Valentina Escott-Price Neill Graff-Radford Nigel J Cairns John C Morris Stuart Pickering-Brown David Mann Glenda M Halliday John Hardy John Q Trojanowski Dennis W Dickson Andrew Singleton David J Stone Rita Guerreiro Jose Bras

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

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

Longitudinal structural gray matter and white matter MRI changes in presymptomatic progranulin mutation carriers.

Authors:
Christopher A Olm Corey T McMillan David J Irwin Vivianna M Van Deerlin Philip A Cook James C Gee Murray Grossman

Neuroimage Clin 2018 15;19:497-506. Epub 2018 May 15.

Penn Frontotemporal Degeneration Center, Department of Neurology, University of Pennsylvania, Philadelphia, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.nicl.2018.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029561PMC
January 2019

UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis.

Authors:
Katerina Placek G Michael Baer Lauren Elman Leo McCluskey Laura Hennessy Pilar M Ferraro Edward B Lee Virginia M Y Lee John Q Trojanowski Vivianna M Van Deerlin Murray Grossman David J Irwin Corey T McMillan

Neurobiol Aging 2019 01 27;73:190-199. Epub 2018 Sep 27.

Department of Neurology, University of Pennsylvania, Penn Frontotemporal Degeneration Center, Philadelphia, PA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183035
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.09.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251755PMC
January 2019

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Authors:
Vivek Swarup Flora I Hinz Jessica E Rexach Ken-Ichi Noguchi Hiroyoshi Toyoshiba Akira Oda Keisuke Hirai Arjun Sarkar Nicholas T Seyfried Chialin Cheng Stephen J Haggarty Murray Grossman Vivianna M Van Deerlin John Q Trojanowski James J Lah Allan I Levey Shinichi Kondou Daniel H Geschwind

Nat Med 2019 01 3;25(1):152-164. Epub 2018 Dec 3.

Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.

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http://www.nature.com/articles/s41591-018-0223-3
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http://dx.doi.org/10.1038/s41591-018-0223-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602064PMC
January 2019

Author Correction: Aberrant activation of non-coding RNA targets of transcriptional elongation complexes contributes to TDP-43 toxicity.

Authors:
Chia-Yu Chung Amit Berson Jason R Kennerdell Ashley Sartoris Travis Unger Sílvia Porta Hyung-Jun Kim Edwin R Smith Ali Shilatifard Vivianna Van Deerlin Virginia M-Y Lee Alice Chen-Plotkin Nancy M Bonini

Nat Commun 2019 01 29;10(1):555. Epub 2019 Jan 29.

Department of Biology, University of Pennsylvania, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1038/s41467-019-08562-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351651PMC
January 2019

Sex-specific genetic predictors of Alzheimer's disease biomarkers.

Authors:
Yuetiva Deming Logan Dumitrescu Lisa L Barnes Madhav Thambisetty Brian Kunkle Katherine A Gifford William S Bush Lori B Chibnik Shubhabrata Mukherjee Philip L De Jager Walter Kukull Matt Huentelman Paul K Crane Susan M Resnick C Dirk Keene Thomas J Montine Gerard D Schellenberg Jonathan L Haines Henrik Zetterberg Kaj Blennow Eric B Larson Sterling C Johnson Marilyn Albert Abhay Moghekar Jorge L Del Aguila Maria Victoria Fernandez John Budde Jason Hassenstab Anne M Fagan Matthias Riemenschneider Ronald C Petersen Lennart Minthon Michael J Chao Vivianna M Van Deerlin Virginia M-Y Lee Leslie M Shaw John Q Trojanowski Elaine R Peskind Gail Li Lea K Davis Julia M Sealock Nancy J Cox Alison M Goate David A Bennett Julie A Schneider Angela L Jefferson Carlos Cruchaga Timothy J Hohman

Acta Neuropathol 2018 12 2;136(6):857-872. Epub 2018 Jul 2.

Vanderbilt Memory and Alzheimer's Center, Vanderbilt University Medical Center, Vanderbilt University School of Medicine, 1207 17th Avenue S, Nashville, TN, 37212, USA.

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http://dx.doi.org/10.1007/s00401-018-1881-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280657PMC
December 2018

Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions.

Authors:
EunRan Suh Kaitlyn Grando Vivianna M Van Deerlin

J Mol Diagn 2018 11 20;20(6):871-882. Epub 2018 Aug 20.

Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2018.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6222278PMC
November 2018

Converging Patterns of α-Synuclein Pathology in Multiple System Atrophy.

Authors:
Johannes Brettschneider EunRan Suh John L Robinson Lubin Fang Edward B Lee David J Irwin Murray Grossman Vivianna M Van Deerlin Virginia M-Y Lee John Q Trojanowski

J Neuropathol Exp Neurol 2018 11;77(11):1005-1016

Center for Neurodegenerative Disease Research (CNDR), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1093/jnen/nly080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181179PMC
November 2018

Alzheimer's Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing.

Authors:
Jill S Goldman Vivianna M Van Deerlin

Mol Diagn Ther 2018 10;22(5):505-513

Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, 7.103 Founders Pavilion, 3400 Spruce Street, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s40291-018-0347-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6472481PMC
October 2018

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

Authors:
Ming Zhang Raffaele Ferrari Maria Carmela Tartaglia Julia Keith Ezequiel I Surace Uri Wolf Christine Sato Mark Grinberg Yan Liang Zhengrui Xi Kyle Dupont Philip McGoldrick Anna Weichert Paul M McKeever Raphael Schneider Michael D McCorkindale Claudia Manzoni Rosa Rademakers Neill R Graff-Radford Dennis W Dickson Joseph E Parisi Bradley F Boeve Ronald C Petersen Bruce L Miller William W Seeley John C van Swieten Jeroen van Rooij Yolande Pijnenburg Julie van der Zee Christine Van Broeckhoven Isabelle Le Ber Vivianna Van Deerlin EunRan Suh Jonathan D Rohrer Simon Mead Caroline Graff Linn Öijerstedt Stuart Pickering-Brown Sara Rollinson Giacomina Rossi Fabrizio Tagliavini William S Brooks Carol Dobson-Stone Glenda M Halliday John R Hodges Olivier Piguet Giuliano Binetti Luisa Benussi Roberta Ghidoni Benedetta Nacmias Sandro Sorbi Amalia C Bruni Daniela Galimberti Elio Scarpini Innocenzo Rainero Elisa Rubino Jordi Clarimon Alberto Lleó Agustin Ruiz Isabel Hernández Pau Pastor Monica Diez-Fairen Barbara Borroni Florence Pasquier Vincent Deramecourt Thibaud Lebouvier Robert Perneczky Janine Diehl-Schmid Jordan Grafman Edward D Huey Richard Mayeux Michael A Nalls Dena Hernandez Andrew Singleton Parastoo Momeni Zhen Zeng John Hardy Janice Robertson Lorne Zinman Ekaterina Rogaeva

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

Aberrant activation of non-coding RNA targets of transcriptional elongation complexes contributes to TDP-43 toxicity.

Authors:
Chia-Yu Chung Amit Berson Jason R Kennerdell Ashley Sartoris Travis Unger Sílvia Porta Hyung-Jun Kim Edwin R Smith Ali Shilatifard Vivianna Van Deerlin Virginia M-Y Lee Alice Chen-Plotkin Nancy M Bonini

Nat Commun 2018 10 23;9(1):4406. Epub 2018 Oct 23.

Department of Biology, University of Pennsylvania, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1038/s41467-018-06543-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199344PMC
October 2018

Twelve-Month Outcomes After Transplant of Hepatitis C-Infected Kidneys Into Uninfected Recipients: A Single-Group Trial.

Authors:
Peter P Reese Peter L Abt Emily A Blumberg Vivianna M Van Deerlin Roy D Bloom Vishnu S Potluri Matthew Levine Paige Porrett Deirdre Sawinski Susanna M Nazarian Ali Naji Richard Hasz Lawrence Suplee Jennifer Trofe-Clark Anna Sicilia Maureen McCauley Caren Gentile Jennifer Smith Bijan A Niknam Melissa Bleicher K Rajender Reddy David S Goldberg

Ann Intern Med 2018 09 7;169(5):273-281. Epub 2018 Aug 7.

Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania (P.P.R., P.L.A., E.A.B., V.M.V., R.D.B., V.S.P., M.L., P.P., D.S., S.M.N., A.N., A.S., M.M., M.B., K.R.R., D.S.G.).

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http://annals.org/article.aspx?doi=10.7326/M18-0749
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http://dx.doi.org/10.7326/M18-0749DOI Listing
September 2018

Alzheimer's genetic risk is reduced in primary age-related tauopathy: a potential model of resistance?

Authors:
Corey T McMillan Edward B Lee Kyra Jefferson-George Adam Naj Vivianna M Van Deerlin John Q Trojanowski David A Wolk

Ann Clin Transl Neurol 2018 Aug 19;5(8):927-934. Epub 2018 Jun 19.

Department of Neurology Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania.

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http://dx.doi.org/10.1002/acn3.581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093846PMC
August 2018

Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum.

Authors:
Celeste M Karch Natalie Wen Chun C Fan Jennifer S Yokoyama Naomi Kouri Owen A Ross Gunter Höglinger Ulrich Müller Raffaele Ferrari John Hardy Gerard D Schellenberg Patrick M Sleiman Parastoo Momeni Christopher P Hess Bruce L Miller Manu Sharma Vivianna Van Deerlin Olav B Smeland Ole A Andreassen Anders M Dale Rahul S Desikan

JAMA Neurol 2018 07;75(7):860-875

Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco.

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http://dx.doi.org/10.1001/jamaneurol.2018.0372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043387PMC
July 2018

Neurodegenerative disease concomitant proteinopathies are prevalent, age-related and APOE4-associated.

Authors:
John L Robinson Edward B Lee Sharon X Xie Lior Rennert EunRan Suh Colin Bredenberg Carrie Caswell Vivianna M Van Deerlin Ning Yan Ahmed Yousef Howard I Hurtig Andrew Siderowf Murray Grossman Corey T McMillan Bruce Miller John E Duda David J Irwin David Wolk Lauren Elman Leo McCluskey Alice Chen-Plotkin Daniel Weintraub Steven E Arnold Johannes Brettschneider Virginia M-Y Lee John Q Trojanowski

Brain 2018 07;141(7):2181-2193

Penn Alzheimer's Disease Core Center, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1093/brain/awy146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022546PMC
July 2018

Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism.

Authors:
Erin G Conlon Delphine Fagegaltier Phaedra Agius Julia Davis-Porada James Gregory Isabel Hubbard Kristy Kang Duyang Kim Hemali Phatnani Justin Kwan Dhruv Sareen James R Broach Zachary Simmons Ximena Arcila-Londono Edward B Lee Vivianna M Van Deerlin Neil A Shneider Ernest Fraenkel Lyle W Ostrow Frank Baas Noah Zaitlen James D Berry Andrea Malaspina Pietro Fratta Gregory A Cox Leslie M Thompson Steve Finkbeiner Efthimios Dardiotis Timothy M Miller Siddharthan Chandran Suvankar Pal Eran Hornstein Daniel J MacGowan Terry Heiman-Patterson Molly G Hammell Nikolaos A Patsopoulos Joshua Dubnau Avindra Nath Hemali Phatnani Neil A Shneider James L Manley

Elife 2018 07 13;7. Epub 2018 Jul 13.

Department of Biological Sciences, Columbia University, New York, United States.

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http://dx.doi.org/10.7554/eLife.37754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6103746PMC
July 2018

A 2-Step Cerebrospinal Algorithm for the Selection of Frontotemporal Lobar Degeneration Subtypes.

Authors:
Alberto Lleó David J Irwin Ignacio Illán-Gala Corey T McMillan David A Wolk Edward B Lee Vivianna M Van Deerlin Leslie M Shaw John Q Trojanowski Murray Grossman

JAMA Neurol 2018 06;75(6):738-745

Penn Frontotemporal Degeneration Center, University of Pennsylvania Perelman School of Medicine, Philadelphia.

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http://dx.doi.org/10.1001/jamaneurol.2018.0118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885205PMC
June 2018

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Authors:
Cyril Pottier Xiaolai Zhou Ralph B Perkerson Matt Baker Gregory D Jenkins Daniel J Serie Roberta Ghidoni Luisa Benussi Giuliano Binetti Adolfo López de Munain Miren Zulaica Fermin Moreno Isabelle Le Ber Florence Pasquier Didier Hannequin Raquel Sánchez-Valle Anna Antonell Albert Lladó Tammee M Parsons NiCole A Finch Elizabeth C Finger Carol F Lippa Edward D Huey Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Robert A Rissman Jaroslaw Slawek Emilia Sitek Peter Johannsen Jørgen E Nielsen Yingxue Ren Marka van Blitterswijk Mariely DeJesus-Hernandez Elizabeth Christopher Melissa E Murray Kevin F Bieniek Bret M Evers Camilla Ferrari Sara Rollinson Anna Richardson Elio Scarpini Giorgio G Fumagalli Alessandro Padovani John Hardy Parastoo Momeni Raffaele Ferrari Francesca Frangipane Raffaele Maletta Maria Anfossi Maura Gallo Leonard Petrucelli EunRan Suh Oscar L Lopez Tsz H Wong Jeroen G J van Rooij Harro Seelaar Simon Mead Richard J Caselli Eric M Reiman Marwan Noel Sabbagh Mads Kjolby Anders Nykjaer Anna M Karydas Adam L Boxer Lea T Grinberg Jordan Grafman Salvatore Spina Adrian Oblak M-Marsel Mesulam Sandra Weintraub Changiz Geula John R Hodges Olivier Piguet William S Brooks David J Irwin John Q Trojanowski Edward B Lee Keith A Josephs Joseph E Parisi Nilüfer Ertekin-Taner David S Knopman Benedetta Nacmias Irene Piaceri Silvia Bagnoli Sandro Sorbi Marla Gearing Jonathan Glass Thomas G Beach Sandra E Black Mario Masellis Ekaterina Rogaeva Jean-Paul Vonsattel Lawrence S Honig Julia Kofler Amalia C Bruni Julie Snowden David Mann Stuart Pickering-Brown Janine Diehl-Schmid Juliane Winkelmann Daniela Galimberti Caroline Graff Linn Öijerstedt Claire Troakes Safa Al-Sarraj Carlos Cruchaga Nigel J Cairns Jonathan D Rohrer Glenda M Halliday John B Kwok John C van Swieten Charles L White Bernardino Ghetti Jill R Murell Ian R A Mackenzie Ging-Yuek R Hsiung Barbara Borroni Giacomina Rossi Fabrizio Tagliavini Zbigniew K Wszolek Ronald C Petersen Eileen H Bigio Murray Grossman Vivianna M Van Deerlin William W Seeley Bruce L Miller Neill R Graff-Radford Bradley F Boeve Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Lancet Neurol 2018 06 30;17(6):548-558. Epub 2018 Apr 30.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30126-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237181PMC
June 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell J Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

Tauopathy with hippocampal 4-repeat tau immunoreactive spherical inclusions: a report of three cases.

Authors:
Gabor G Kovacs Linda K Kwong Murray Grossman David J Irwin Edward B Lee John L Robinson Eunran Suh Vivianna M Van Deerlin Virginia M Lee John Q Trojanowski

Brain Pathol 2018 03 19;28(2):274-283. Epub 2017 Jan 19.

Center for Neurodegenerative Disease Research, Institute on Aging and Department of Pathology & Laboratory Medicine, Philadelphia, PA.

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http://dx.doi.org/10.1111/bpa.12482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5484758PMC
March 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

APOE, thought disorder, and SPARE-AD predict cognitive decline in established Parkinson's disease.

Authors:
Thomas F Tropea Sharon X Xie Jacqueline Rick Lana M Chahine Nabila Dahodwala Jimit Doshi Christos Davatzikos Leslie M Shaw Vivianna Van Deerlin John Q Trojanowski Daniel Weintraub Alice S Chen-Plotkin

Mov Disord 2018 02 23;33(2):289-297. Epub 2017 Nov 23.

Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/mds.27204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809205PMC
February 2018

Hepatitis C virus genotyping of organ donor samples to aid in transplantation of HCV-positive organs.

Authors:
Caren Gentile Vivianna M Van Deerlin David S Goldberg Peter P Reese Richard D Hasz Peter Abt Emily Blumberg Midhat S Farooqi

Clin Transplant 2018 02 21;32(2). Epub 2017 Dec 21.

Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.

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http://dx.doi.org/10.1111/ctr.13172DOI Listing
February 2018

Asymmetry of post-mortem neuropathology in behavioural-variant frontotemporal dementia.

Authors:
David J Irwin Corey T McMillan Sharon X Xie Katya Rascovsky Vivianna M Van Deerlin H Branch Coslett Roy Hamilton Geoffrey K Aguirre Edward B Lee Virginia M Y Lee John Q Trojanowski Murray Grossman

Brain 2018 01;141(1):288-301

Penn Frontotemporal Degeneration Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1093/brain/awx319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837322PMC
January 2018

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

Authors:
Rita Guerreiro Owen A Ross Celia Kun-Rodrigues Dena G Hernandez Tatiana Orme John D Eicher Claire E Shepherd Laura Parkkinen Lee Darwent Michael G Heckman Sonja W Scholz Juan C Troncoso Olga Pletnikova Olaf Ansorge Jordi Clarimon Alberto Lleo Estrella Morenas-Rodriguez Lorraine Clark Lawrence S Honig Karen Marder Afina Lemstra Ekaterina Rogaeva Peter St George-Hyslop Elisabet Londos Henrik Zetterberg Imelda Barber Anne Braae Kristelle Brown Kevin Morgan Claire Troakes Safa Al-Sarraj Tammaryn Lashley Janice Holton Yaroslau Compta Vivianna Van Deerlin Geidy E Serrano Thomas G Beach Suzanne Lesage Douglas Galasko Eliezer Masliah Isabel Santana Pau Pastor Monica Diez-Fairen Miquel Aguilar Pentti J Tienari Liisa Myllykangas Minna Oinas Tamas Revesz Andrew Lees Brad F Boeve Ronald C Petersen Tanis J Ferman Valentina Escott-Price Neill Graff-Radford Nigel J Cairns John C Morris Stuart Pickering-Brown David Mann Glenda M Halliday John Hardy John Q Trojanowski Dennis W Dickson Andrew Singleton David J Stone Jose Bras

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

TDP-43 Promotes Neurodegeneration by Impairing Chromatin Remodeling.

Authors:
Amit Berson Ashley Sartoris Raffaella Nativio Vivianna Van Deerlin Jon B Toledo Sílvia Porta Shichong Liu Chia-Yu Chung Benjamin A Garcia Virginia M-Y Lee John Q Trojanowski F Brad Johnson Shelley L Berger Nancy M Bonini

Curr Biol 2017 Dec 16;27(23):3579-3590.e6. Epub 2017 Nov 16.

Department of Biology, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cub.2017.10.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5720388PMC
December 2017

Regional brain amyloid-β accumulation associates with domain-specific cognitive performance in Parkinson disease without dementia.

Authors:
Rizwan S Akhtar Sharon X Xie Yin J Chen Jacqueline Rick Rachel G Gross Ilya M Nasrallah Vivianna M Van Deerlin John Q Trojanowski Alice S Chen-Plotkin Howard I Hurtig Andrew D Siderowf Jacob G Dubroff Daniel Weintraub

PLoS One 2017 25;12(5):e0177924. Epub 2017 May 25.

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0177924PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444629PMC
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

Neuron loss and degeneration in the progression of TDP-43 in frontotemporal lobar degeneration.

Authors:
Ahmed Yousef John L Robinson David J Irwin Matthew D Byrne Linda K Kwong Edward B Lee Yan Xu Sharon X Xie Lior Rennert EunRan Suh Vivianna M Van Deerlin Murray Grossman Virginia M-Y Lee John Q Trojanowski

Acta Neuropathol Commun 2017 09 6;5(1):68. Epub 2017 Sep 6.

Center for Neurodegenerative Disease Research and Institute on Aging, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1186/s40478-017-0471-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5586052PMC
September 2017

Large-scale exploratory genetic analysis of cognitive impairment in Parkinson's disease.

Authors:
Ignacio F Mata Catherine O Johnson James B Leverenz Daniel Weintraub John Q Trojanowski Vivianna M Van Deerlin Beate Ritz Rebecca Rausch Stewart A Factor Cathy Wood-Siverio Joseph F Quinn Kathryn A Chung Amie L Peterson-Hiller Alberto J Espay Fredy J Revilla Johnna Devoto Dora Yearout Shu-Ching Hu Brenna A Cholerton Thomas J Montine Karen L Edwards Cyrus P Zabetian

Neurobiol Aging 2017 08 20;56:211.e1-211.e7. Epub 2017 Apr 20.

Veterans Affairs Puget Sound Health Care System, Seattle, WA, USA; Department of Neurology, University of Washington School of Medicine, Seattle, WA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5536182PMC
August 2017

Expansion of the classification of FTLD-TDP: distinct pathology associated with rapidly progressive frontotemporal degeneration.

Authors:
Edward B Lee Sílvia Porta G Michael Baer Yan Xu EunRan Suh Linda K Kwong Lauren Elman Murray Grossman Virginia M-Y Lee David J Irwin Vivianna M Van Deerlin John Q Trojanowski

Acta Neuropathol 2017 07 27;134(1):65-78. Epub 2017 Jan 27.

Center for Neurodegenerative Disease Research, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s00401-017-1679-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521959PMC
July 2017

Genome-wide, high-content siRNA screening identifies the Alzheimer's genetic risk factor FERMT2 as a major modulator of APP metabolism.

Authors:
Julien Chapuis Amandine Flaig Benjamin Grenier-Boley Fanny Eysert Virginie Pottiez Gaspard Deloison Alexandre Vandeputte Anne-Marie Ayral Tiago Mendes Shruti Desai Alison M Goate John S K Kauwe Florence Leroux Adrien Herledan Florie Demiautte Charlotte Bauer Fréderic Checler Ronald C Petersen Kaj Blennow Henrik Zetterberg Lennart Minthon Vivianna M Van Deerlin Virginia Man-Yee Lee Leslie M Shaw John Q Trojanowski Marilyn Albert Abhay Moghekar Richard O'Brien Elaine R Peskind Nicolas Malmanche Gerard D Schellenberg Pierre Dourlen Ok-Ryul Song Carlos Cruchaga Philippe Amouyel Benoit Deprez Priscille Brodin Jean-Charles Lambert

Acta Neuropathol 2017 06 8;133(6):955-966. Epub 2016 Dec 8.

Laboratoire d'Excellence Distalz, Univ. Lille, Unité INSERM 1167, Institut Pasteur de Lille, BP 245, 1 rue du professeur Calmette, 59000, Lille cedex, France.

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http://dx.doi.org/10.1007/s00401-016-1652-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427165PMC
June 2017

Trial of Transplantation of HCV-Infected Kidneys into Uninfected Recipients.

Authors:
David S Goldberg Peter L Abt Emily A Blumberg Vivianna M Van Deerlin Matthew Levine K Rajender Reddy Roy D Bloom Susanna M Nazarian Deirdre Sawinski Paige Porrett Ali Naji Richard Hasz Lawrence Suplee Jennifer Trofe-Clark Anna Sicilia Maureen McCauley Midhat Farooqi Caren Gentile Jennifer Smith Peter P Reese

N Engl J Med 2017 06 30;376(24):2394-2395. Epub 2017 Apr 30.

University of Pennsylvania, Philadelphia, PA

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http://dx.doi.org/10.1056/NEJMc1705221DOI Listing
June 2017

Clinical marker for Alzheimer disease pathology in logopenic primary progressive aphasia.

Authors:
Lucia A A Giannini David J Irwin Corey T McMillan Sharon Ash Katya Rascovsky David A Wolk Vivianna M Van Deerlin Edward B Lee John Q Trojanowski Murray Grossman

Neurology 2017 Jun 17;88(24):2276-2284. Epub 2017 May 17.

From the Department of Neurology (L.A.A.G.), University Medical Center Groningen, University of Groningen, the Netherlands; Penn Frontotemporal Degeneration Center, Department of Neurology (L.A.A.G., D.J.I., C.T.M., S.A., K.R., M.G.), Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine (D.J.I., V.M.V.D., J.Q.T.), Alzheimer's Disease Center (D.A.W.), Department of Neurology, and Translational Pathology Laboratory, Perelman School of Medicine (E.B.L.), University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/WNL.0000000000004034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567322PMC
June 2017

Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers.

Authors:
Yuetiva Deming Zeran Li Manav Kapoor Oscar Harari Jorge L Del-Aguila Kathleen Black David Carrell Yefei Cai Maria Victoria Fernandez John Budde Shengmei Ma Benjamin Saef Bill Howells Kuan-Lin Huang Sarah Bertelsen Anne M Fagan David M Holtzman John C Morris Sungeun Kim Andrew J Saykin Philip L De Jager Marilyn Albert Abhay Moghekar Richard O'Brien Matthias Riemenschneider Ronald C Petersen Kaj Blennow Henrik Zetterberg Lennart Minthon Vivianna M Van Deerlin Virginia Man-Yee Lee Leslie M Shaw John Q Trojanowski Gerard Schellenberg Jonathan L Haines Richard Mayeux Margaret A Pericak-Vance Lindsay A Farrer Elaine R Peskind Ge Li Antonio F Di Narzo John S K Kauwe Alison M Goate Carlos Cruchaga

Acta Neuropathol 2017 05 28;133(5):839-856. Epub 2017 Feb 28.

Department of Psychiatry, Washington University School of Medicine, 660 S. Euclid Ave. B8134, St. Louis, MO, 63110, USA.

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http://dx.doi.org/10.1007/s00401-017-1685-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613285PMC
May 2017

Evaluating the Patterns of Aging-Related Tau Astrogliopathy Unravels Novel Insights Into Brain Aging and Neurodegenerative Diseases.

Authors:
Gabor G Kovacs John L Robinson Sharon X Xie Edward B Lee Murray Grossman David A Wolk David J Irwin Dan Weintraub Christopher F Kim Theresa Schuck Ahmed Yousef Stephanie T Wagner Eunran Suh Vivianna M Van Deerlin Virginia M-Y Lee John Q Trojanowski

J Neuropathol Exp Neurol 2017 04;76(4):270-288

Center for Neurodegenerative Disease Research, Institute on Aging and Department of Pathology & Laboratory Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1093/jnen/nlx007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251691PMC
April 2017

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

Authors:
Celia Kun-Rodrigues Owen A Ross Tatiana Orme Claire Shepherd Laura Parkkinen Lee Darwent Dena Hernandez Olaf Ansorge Lorraine N Clark Lawrence S Honig Karen Marder Afina Lemstra Philippe Scheltens Wiesje van der Flier Eva Louwersheimer Henne Holstege Ekaterina Rogaeva Peter St George-Hyslop Elisabet Londos Henrik Zetterberg Imelda Barber Anne Braae Kristelle Brown Kevin Morgan Walter Maetzler Daniela Berg Claire Troakes Safa Al-Sarraj Tammaryn Lashley Janice Holton Yaroslau Compta Vivianna Van Deerlin John Q Trojanowski Geidy E Serrano Thomas G Beach Jordi Clarimon Alberto Lleó Estrella Morenas-Rodríguez Suzanne Lesage Douglas Galasko Eliezer Masliah Isabel Santana Monica Diez Pau Pastor Pentti J Tienari Liisa Myllykangas Minna Oinas Tamas Revesz Andrew Lees Brad F Boeve Ronald C Petersen Tanis J Ferman Valentina Escott-Price Neill Graff-Radford Nigel J Cairns John C Morris David J Stone Stuart Pickering-Brown David Mann Dennis W Dickson Glenda M Halliday Andrew Singleton Rita Guerreiro Jose Bras

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://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154872PMC
January 2017

Neuropathological and genetic correlates of survival and dementia onset in synucleinopathies: a retrospective analysis.

Authors:
David J Irwin Murray Grossman Daniel Weintraub Howard I Hurtig John E Duda Sharon X Xie Edward B Lee Vivianna M Van Deerlin Oscar L Lopez Julia K Kofler Peter T Nelson Gregory A Jicha Randy Woltjer Joseph F Quinn Jeffery Kaye James B Leverenz Debby Tsuang Katelan Longfellow Dora Yearout Walter Kukull C Dirk Keene Thomas J Montine Cyrus P Zabetian John Q Trojanowski

Lancet Neurol 2017 Jan;16(1):55-65

Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Morris K Udall Parkinson's Disease Center Of Excellence, Institute on Aging, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/S1474-4422(16)30291-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181646PMC
January 2017

Common variant rs356182 near SNCA defines a Parkinson's disease endophenotype.

Authors:
Christine A Cooper Nimansha Jain Michael D Gallagher Daniel Weintraub Sharon X Xie Yosef Berlyand Alberto J Espay Joseph Quinn Karen L Edwards Thomas Montine Vivianna M Van Deerlin John Trojanowski Cyrus P Zabetian Alice S Chen-Plotkin

Ann Clin Transl Neurol 2017 01 25;4(1):15-25. Epub 2016 Nov 25.

Department of Neurology Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania.

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http://dx.doi.org/10.1002/acn3.371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5221454PMC
January 2017

Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease.

Authors:
Marie Y Davis Catherine O Johnson James B Leverenz Daniel Weintraub John Q Trojanowski Alice Chen-Plotkin Vivianna M Van Deerlin Joseph F Quinn Kathryn A Chung Amie L Peterson-Hiller Liana S Rosenthal Ted M Dawson Marilyn S Albert Jennifer G Goldman Glenn T Stebbins Bryan Bernard Zbigniew K Wszolek Owen A Ross Dennis W Dickson David Eidelberg Paul J Mattis Martin Niethammer Dora Yearout Shu-Ching Hu Brenna A Cholerton Megan Smith Ignacio F Mata Thomas J Montine Karen L Edwards Cyrus P Zabetian

JAMA Neurol 2016 Oct;73(10):1217-1224

Veterans Affairs Puget Sound Health Care System, Seattle, Washington2Department of Neurology, University of Washington School of Medicine, Seattle.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056861PMC
http://dx.doi.org/10.1001/jamaneurol.2016.2245DOI Listing
October 2016

Cognitive reserve in frontotemporal degeneration: Neuroanatomic and neuropsychological evidence.

Authors:
Katerina Placek Lauren Massimo Christopher Olm Kylie Ternes Kim Firn Vivianna Van Deerlin Edward B Lee John Q Trojanowski Virginia M-Y Lee David Irwin Murray Grossman Corey T McMillan

Neurology 2016 Oct 28;87(17):1813-1819. Epub 2016 Sep 28.

From the Department of Neurology, Penn Frontotemporal Degeneration Center (K.P., L.M., C.O., K.T., K.F., D.I., M.G., C.T.M.), and Department of Pathology & Laboratory Medicine, Center for Neurodegenerative Disease Research (V.V.D., E.B.L., J.Q.T., V.M.-Y.L., D.I.), University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/WNL.0000000000003250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089523PMC
October 2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Authors:
Wouter van Rheenen Aleksey Shatunov Annelot M Dekker Russell L McLaughlin Frank P Diekstra Sara L Pulit Rick A A van der Spek Urmo Võsa Simone de Jong Matthew R Robinson Jian Yang Isabella Fogh Perry Tc van Doormaal Gijs H P Tazelaar Max Koppers Anna M Blokhuis William Sproviero Ashley R Jones Kevin P Kenna Kristel R van Eijk Oliver Harschnitz Raymond D Schellevis William J Brands Jelena Medic Androniki Menelaou Alice Vajda Nicola Ticozzi Kuang Lin Boris Rogelj Katarina Vrabec Metka Ravnik-Glavač Blaž Koritnik Janez Zidar Lea Leonardis Leja Dolenc Grošelj Stéphanie Millecamps François Salachas Vincent Meininger Mamede de Carvalho Susana Pinto Jesus S Mora Ricardo Rojas-García Meraida Polak Siddharthan Chandran Shuna Colville Robert Swingler Karen E Morrison Pamela J Shaw John Hardy Richard W Orrell Alan Pittman Katie Sidle Pietro Fratta Andrea Malaspina Simon Topp Susanne Petri Susanne Abdulla Carsten Drepper Michael Sendtner Thomas Meyer Roel A Ophoff Kim A Staats Martina Wiedau-Pazos Catherine Lomen-Hoerth Vivianna M Van Deerlin John Q Trojanowski Lauren Elman Leo McCluskey A Nazli Basak Ceren Tunca Hamid Hamzeiy Yesim Parman Thomas Meitinger Peter Lichtner Milena Radivojkov-Blagojevic Christian R Andres Cindy Maurel Gilbert Bensimon Bernhard Landwehrmeyer Alexis Brice Christine A M Payan Safaa Saker-Delye Alexandra Dürr Nicholas W Wood Lukas Tittmann Wolfgang Lieb Andre Franke Marcella Rietschel Sven Cichon Markus M Nöthen Philippe Amouyel Christophe Tzourio Jean-François Dartigues Andre G Uitterlinden Fernando Rivadeneira Karol Estrada Albert Hofman Charles Curtis Hylke M Blauw Anneke J van der Kooi Marianne de Visser An Goris Markus Weber Christopher E Shaw Bradley N Smith Orietta Pansarasa Cristina Cereda Roberto Del Bo Giacomo P Comi Sandra D'Alfonso Cinzia Bertolin Gianni Sorarù Letizia Mazzini Viviana Pensato Cinzia Gellera Cinzia Tiloca Antonia Ratti Andrea Calvo Cristina Moglia Maura Brunetti Simona Arcuti Rosa Capozzo Chiara Zecca Christian Lunetta Silvana Penco Nilo Riva Alessandro Padovani Massimiliano Filosto Bernard Muller Robbert Jan Stuit Ian Blair Katharine Zhang Emily P McCann Jennifer A Fifita Garth A Nicholson Dominic B Rowe Roger Pamphlett Matthew C Kiernan Julian Grosskreutz Otto W Witte Thomas Ringer Tino Prell Beatrice Stubendorff Ingo Kurth Christian A Hübner P Nigel Leigh Federico Casale Adriano Chio Ettore Beghi Elisabetta Pupillo Rosanna Tortelli Giancarlo Logroscino John Powell Albert C Ludolph Jochen H Weishaupt Wim Robberecht Philip Van Damme Lude Franke Tune H Pers Robert H Brown Jonathan D Glass John E Landers Orla Hardiman Peter M Andersen Philippe Corcia Patrick Vourc'h Vincenzo Silani Naomi R Wray Peter M Visscher Paul I W de Bakker Michael A van Es R Jeroen Pasterkamp Cathryn M Lewis Gerome Breen Ammar Al-Chalabi Leonard H van den Berg Jan H Veldink

Nat Genet 2016 09 25;48(9):1043-8. Epub 2016 Jul 25.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/ng.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 2016

Transcriptomic Changes Due to Cytoplasmic TDP-43 Expression Reveal Dysregulation of Histone Transcripts and Nuclear Chromatin.

Authors:
Alexandre Amlie-Wolf Paul Ryvkin Rui Tong Isabelle Dragomir EunRan Suh Yan Xu Vivianna M Van Deerlin Brian D Gregory Linda K Kwong John Q Trojanowski Virginia M-Y Lee Li-San Wang Edward B Lee

PLoS One 2015 28;10(10):e0141836. Epub 2015 Oct 28.

Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624943PMC
June 2016

CSF biomarkers associated with disease heterogeneity in early Parkinson's disease: the Parkinson's Progression Markers Initiative study.

Authors:
Ju-Hee Kang Brit Mollenhauer Christopher S Coffey Jon B Toledo Daniel Weintraub Douglas R Galasko David J Irwin Vivianna Van Deerlin Alice S Chen-Plotkin Chelsea Caspell-Garcia Teresa Waligórska Peggy Taylor Nirali Shah Sarah Pan Pawel Zero Mark Frasier Kenneth Marek Karl Kieburtz Danna Jennings Caroline M Tanner Tanya Simuni Andrew Singleton Arthur W Toga Sohini Chowdhury John Q Trojanowski Leslie M Shaw

Acta Neuropathol 2016 06 28;131(6):935-49. Epub 2016 Mar 28.

Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, 7.103 Founders Pavilion 3400 Spruce Street, Philadelphia, PA, 19104, USA.

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http://link.springer.com/content/pdf/10.1007%2Fs00401-016-15
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http://link.springer.com/10.1007/s00401-016-1552-2
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http://dx.doi.org/10.1007/s00401-016-1552-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031365PMC
June 2016

Pathological α-synuclein distribution in subjects with coincident Alzheimer's and Lewy body pathology.

Authors:
Jon B Toledo Pallavi Gopal Kevin Raible David J Irwin Johannes Brettschneider Samantha Sedor Kayla Waits Susana Boluda Murray Grossman Vivianna M Van Deerlin Edward B Lee Steven E Arnold John E Duda Howard Hurtig Virginia M-Y Lee Charles H Adler Thomas G Beach John Q Trojanowski

Acta Neuropathol 2016 Mar 31;131(3):393-409. Epub 2015 Dec 31.

Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s00401-015-1526-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754135PMC
March 2016

Deep clinical and neuropathological phenotyping of Pick disease.

Authors:
David J Irwin Johannes Brettschneider Corey T McMillan Felicia Cooper Christopher Olm Steven E Arnold Vivianna M Van Deerlin William W Seeley Bruce L Miller Edward B Lee Virginia M-Y Lee Murray Grossman John Q Trojanowski

Ann Neurol 2016 Feb 25;79(2):272-87. Epub 2015 Dec 25.

Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA.

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http://dx.doi.org/10.1002/ana.24559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755803PMC
February 2016

GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease.

Authors:
Ignacio F Mata James B Leverenz Daniel Weintraub John Q Trojanowski Alice Chen-Plotkin Vivianna M Van Deerlin Beate Ritz Rebecca Rausch Stewart A Factor Cathy Wood-Siverio Joseph F Quinn Kathryn A Chung Amie L Peterson-Hiller Jennifer G Goldman Glenn T Stebbins Bryan Bernard Alberto J Espay Fredy J Revilla Johnna Devoto Liana S Rosenthal Ted M Dawson Marilyn S Albert Debby Tsuang Haley Huston Dora Yearout Shu-Ching Hu Brenna A Cholerton Thomas J Montine Karen L Edwards Cyrus P Zabetian

Mov Disord 2016 Jan 21;31(1):95-102. Epub 2015 Aug 21.

Veterans Affairs Puget Sound Health Care System, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/mds.26359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724255PMC
January 2016

Semi-Automated Digital Image Analysis of Pick's Disease and TDP-43 Proteinopathy.

Authors:
David J Irwin Matthew D Byrne Corey T McMillan Felicia Cooper Steven E Arnold Edward B Lee Vivianna M Van Deerlin Sharon X Xie Virginia M-Y Lee Murray Grossman John Q Trojanowski

J Histochem Cytochem 2016 01 4;64(1):54-66. Epub 2015 Nov 4.

Center for Neurodegenerative Disease Research,Department of Pathology & Laboratory Medicine(DJI, MDB, FC, SEA, EBL, VMVD, VML, JQT)

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http://dx.doi.org/10.1369/0022155415614303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810792PMC
January 2016

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.

Authors:
Christina M Lill Aina Rengmark Lasse Pihlstrøm Isabella Fogh Aleksey Shatunov Patrick M Sleiman Li-San Wang Tian Liu Christina F Lassen Esther Meissner Panos Alexopoulos Andrea Calvo Adriano Chio Nil Dizdar Frank Faltraco Lars Forsgren Julia Kirchheiner Alexander Kurz Jan P Larsen Maria Liebsch Jan Linder Karen E Morrison Hans Nissbrandt Markus Otto Jens Pahnke Amanda Partch Gabriella Restagno Dan Rujescu Cathrin Schnack Christopher E Shaw Pamela J Shaw Hayrettin Tumani Ole-Bjørn Tysnes Otto Valladares Vincenzo Silani Leonard H van den Berg Wouter van Rheenen Jan H Veldink Ulman Lindenberger Elisabeth Steinhagen-Thiessen Stefan Teipel Robert Perneczky Hakon Hakonarson Harald Hampel Christine A F von Arnim Jørgen H Olsen Vivianna M Van Deerlin Ammar Al-Chalabi Mathias Toft Beate Ritz Lars Bertram

Alzheimers Dement 2015 Dec 30;11(12):1407-1416. Epub 2015 Apr 30.

Platform for Genome Analytics, Institutes of Neurogenetics & Integrative and Experimental Genomics, University of Lübeck, Lübeck, Germany; Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany; Neuroepidemiology and Ageing Research Unit, School of Public Health, Faculty of Medicine, The Imperial College of Science, Technology, and Medicine, London, UK.

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http://dx.doi.org/10.1016/j.jalz.2014.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4627856PMC
December 2015

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study.

Authors:
Mike A Nalls Cory Y McLean Jacqueline Rick Shirley Eberly Samantha J Hutten Katrina Gwinn Margaret Sutherland Maria Martinez Peter Heutink Nigel M Williams John Hardy Thomas Gasser Alexis Brice T Ryan Price Aude Nicolas Margaux F Keller Cliona Molony J Raphael Gibbs Alice Chen-Plotkin Eunran Suh Christopher Letson Massimo S Fiandaca Mark Mapstone Howard J Federoff Alastair J Noyce Huw Morris Vivianna M Van Deerlin Daniel Weintraub Cyrus Zabetian Dena G Hernandez Suzanne Lesage Meghan Mullins Emily Drabant Conley Carrie A M Northover Mark Frasier Ken Marek Aaron G Day-Williams David J Stone John P A Ioannidis Andrew B Singleton

Lancet Neurol 2015 Oct 10;14(10):1002-9. Epub 2015 Aug 10.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(15)00178-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4575273PMC
October 2015

Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration.

Authors:
EunRan Suh Edward B Lee Donald Neal Elisabeth M Wood Jon B Toledo Lior Rennert David J Irwin Corey T McMillan Bryan Krock Lauren B Elman Leo F McCluskey Murray Grossman Sharon X Xie John Q Trojanowski Vivianna M Van Deerlin

Acta Neuropathol 2015 Sep 29;130(3):363-72. Epub 2015 May 29.

Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, 3600 Spruce Street, Philadelphia, PA, 19104-4283, USA,

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http://dx.doi.org/10.1007/s00401-015-1445-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545720PMC
September 2015

Positive florbetapir PET amyloid imaging in a subject with frequent cortical neuritic plaques and frontotemporal lobar degeneration with TDP43-positive inclusions.

Authors:
Geidy E Serrano Marwan N Sabbagh Lucia I Sue Jose A Hidalgo Julie A Schneider Barry J Bedell Vivianna M Van Deerlin Eunran Suh Haruhiko Akiyama Abhinay D Joshi Michael J Pontecorvo Mark A Mintun Thomas G Beach

J Alzheimers Dis 2014 ;42(3):813-21

Banner Sun Health Research Institute, Sun City, AZ, USA.

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http://dx.doi.org/10.3233/JAD-140162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167919PMC
August 2015

Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His.

Authors:
John L Robinson EunRan Suh Elisabeth M Wood Edward B Lee H Branch Coslett Kevin Raible Virginia M-Y Lee John Q Trojanowski Vivianna M Van Deerlin

Acta Neuropathol Commun 2015 Jul 4;3:42. Epub 2015 Jul 4.

Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, 3600 Spruce Street, 19104, Philadelphia, PA, USA.

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http://dx.doi.org/10.1186/s40478-015-0219-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491242PMC
July 2015

Erratum to: Sequential distribution of pTDP-43 pathology in behavioral variant frontotemporal dementia (bvFTD).

Authors:
Johannes Brettschneider Kelly Del Tredici David J Irwin Murray Grossman John L Robinson Jon B Toledo Edward B Lee Lubin Fang Vivianna M Van Deerlin Albert C Ludolph Virginia M-Y Lee Heiko Braak John Q Trojanowski

Acta Neuropathol 2015 Jun;129(6):929

Center for Neurodegenerative Disease Research (CNDR), Perelman School of Medicine at the University of Pennsylvania, 3rd Floor Maloney Building, 3600 Spruce Street, Philadelphia, PA, 19104, USA,

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http://dx.doi.org/10.1007/s00401-015-1428-xDOI Listing
June 2015

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.

Authors:
Naomi Kouri Owen A Ross Beth Dombroski Curtis S Younkin Daniel J Serie Alexandra Soto-Ortolaza Matthew Baker Ni Cole A Finch Hyejin Yoon Jungsu Kim Shinsuke Fujioka Catriona A McLean Bernardino Ghetti Salvatore Spina Laura B Cantwell Martin R Farlow Jordan Grafman Edward D Huey Mi Ryung Han Sherry Beecher Evan T Geller Hans A Kretzschmar Sigrun Roeber Marla Gearing Jorge L Juncos Jean Paul G Vonsattel Vivianna M Van Deerlin Murray Grossman Howard I Hurtig Rachel G Gross Steven E Arnold John Q Trojanowski Virginia M Lee Gregor K Wenning Charles L White Günter U Höglinger Ulrich Müller Bernie Devlin Lawrence I Golbe Julia Crook Joseph E Parisi Bradley F Boeve Keith A Josephs Zbigniew K Wszolek Ryan J Uitti Neill R Graff-Radford Irene Litvan Steven G Younkin Li-San Wang Nilüfer Ertekin-Taner Rosa Rademakers Hakon Hakonarsen Gerard D Schellenberg Dennis W Dickson

Nat Commun 2015 Jun 16;6:7247. Epub 2015 Jun 16.

Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.

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http://dx.doi.org/10.1038/ncomms8247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469997PMC
June 2015

Lower plasma apolipoprotein A1 levels are found in Parkinson's disease and associate with apolipoprotein A1 genotype.

Authors:
Christine R Swanson Katherine Li Travis L Unger Michael D Gallagher Vivianna M Van Deerlin Pinky Agarwal James Leverenz John Roberts Ali Samii Rachel Goldmann Gross Howard Hurtig Jacqueline Rick Daniel Weintraub John Q Trojanowski Cyrus Zabetian Alice S Chen-Plotkin

Mov Disord 2015 May 16;30(6):805-12. Epub 2014 Sep 16.

Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/mds.26022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362847PMC
May 2015

Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.

Authors:
David J Irwin Nigel J Cairns Murray Grossman Corey T McMillan Edward B Lee Vivianna M Van Deerlin Virginia M-Y Lee John Q Trojanowski

Acta Neuropathol 2015 Apr 31;129(4):469-91. Epub 2014 Dec 31.

Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Institute on Ageing, University of Pennsylvania School of Medicine, HUP Maloney 3rd Floor, 36th and Spruce Streets, Philadelphia, PA, 19104-4283, USA.

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http://dx.doi.org/10.1007/s00401-014-1380-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369168PMC
April 2015

Cognitive profile of LRRK2-related Parkinson's disease.

Authors:
Sindhu Srivatsal Brenna Cholerton James B Leverenz Zbigniew K Wszolek Ryan J Uitti Dennis W Dickson Daniel Weintraub John Q Trojanowski Vivianna M Van Deerlin Joseph F Quinn Kathryn A Chung Amie L Peterson Stewart A Factor Cathy Wood-Siverio Jennifer G Goldman Glenn T Stebbins Bryan Bernard Beate Ritz Rebecca Rausch Alberto J Espay Fredy J Revilla Johnna Devoto Liana S Rosenthal Ted M Dawson Marilyn S Albert Ignacio F Mata Shu-Ching Hu Kathleen S Montine Catherine Johnson Thomas J Montine Karen L Edwards Jing Zhang Cyrus P Zabetian

Mov Disord 2015 Apr 4;30(5):728-33. Epub 2015 Feb 4.

Virginia Mason Neuroscience Institute, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/mds.26161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397146PMC
April 2015

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.

Authors:
Gary W Beecham Dennis W Dickson William K Scott Eden R Martin Gerard Schellenberg Karen Nuytemans Eric B Larson Joseph D Buxbaum John Q Trojanowski Vivianna M Van Deerlin Howard I Hurtig Deborah C Mash Thomas G Beach Juan C Troncoso Olga Pletnikova Matthew P Frosch Bernardino Ghetti Tatiana M Foroud Lawrence S Honig Karen Marder Jean Paul Vonsattel Samuel M Goldman Harry V Vinters Owen A Ross Zbigniew K Wszolek Liyong Wang Derek M Dykxhoorn Margaret A Pericak-Vance Thomas J Montine James B Leverenz Ted M Dawson Jeffery M Vance

Neurology 2015 Mar 6;84(10):972-80. Epub 2015 Feb 6.

From the John P. Hussman Institute for Human Genomics (G.W.B., W.K.S., E.R.M., K.N., L.W., D.M.D., M.A.P.-V., J.M.V.) and University of Miami Brain Endowment Bank (D.C.M.), Miller School of Medicine, University of Miami, FL; Departments of Neuroscience (D.W.D., O.A.R.) and Neurology (Z.K.W.), Mayo Clinic Florida, Jacksonville; Department of Pathology & Laboratory Medicine (G.S., J.Q.T., V.M.V.D., H.I.H.), Perelman School of Medicine, Center for Neurodegenerative Disease Research, University of Pennsylvania, Philadelphia; Group Health Research Institute (E.B.L.), Seattle, WA; Departments of Psychiatry, and Genetics and Genomic Sciences (J.D.B.), Mount Sinai School of Medicine, New York, NY; Arizona Alzheimer's Consortium (T.G.B.), Phoenix; Sun Health Research Institute (T.G.B.), Sun City, AZ; Division of Neuropathology, Department of Pathology (J.C.T., O.P.), and Department of Neurology and the Solomon H. Snyder Department of Neuroscience (T.M.D.), Johns Hopkins University School of Medicine, Baltimore, MD; Kubik Laboratory for Neuropathology (M.P.F.), Massachusetts General Hospital and Harvard Medical School, Charlestown, MA; Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center (B.G.), and Department of Medical and Molecular Genetics (T.M.F.), Indiana University School of Medicine, Indianapolis; Departments of Neurology (L.S.H., K.M.) and Psychiatry (K.M.), Gertrude H. Sergievsky Center, and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York; Department of Pathology and Cell Biology (J.P.V.), Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York, NY; The Parkinson's Institute (S.M.G.), Sunnyvale, CA; Departments of Pathology and Laboratory Medicine (Neuropathology) and Neurology (H.V.V.), David Geffen School of Medicine at University of California Los Angeles; Department of Pathology (T.J.M.), University of Washington School of Medicine, Seattle; VA Puget Sound Health Care System (

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March 2015

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Authors:
Elizabeth T Cirulli Brittany N Lasseigne Slavé Petrovski Peter C Sapp Patrick A Dion Claire S Leblond Julien Couthouis Yi-Fan Lu Quanli Wang Brian J Krueger Zhong Ren Jonathan Keebler Yujun Han Shawn E Levy Braden E Boone Jack R Wimbish Lindsay L Waite Angela L Jones John P Carulli Aaron G Day-Williams John F Staropoli Winnie W Xin Alessandra Chesi Alya R Raphael Diane McKenna-Yasek Janet Cady J M B Vianney de Jong Kevin P Kenna Bradley N Smith Simon Topp Jack Miller Athina Gkazi Ammar Al-Chalabi Leonard H van den Berg Jan Veldink Vincenzo Silani Nicola Ticozzi Christopher E Shaw Robert H Baloh Stanley Appel Ericka Simpson Clotilde Lagier-Tourenne Stefan M Pulst Summer Gibson John Q Trojanowski Lauren Elman Leo McCluskey Murray Grossman Neil A Shneider Wendy K Chung John M Ravits Jonathan D Glass Katherine B Sims Vivianna M Van Deerlin Tom Maniatis Sebastian D Hayes Alban Ordureau Sharan Swarup John Landers Frank Baas Andrew S Allen Richard S Bedlack J Wade Harper Aaron D Gitler Guy A Rouleau Robert Brown Matthew B Harms Gregory M Cooper Tim Harris Richard M Myers David B Goldstein

Science 2015 Mar 19;347(6229):1436-41. Epub 2015 Feb 19.

Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.

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March 2015

Rarity of the Alzheimer disease-protective APP A673T variant in the United States.

Authors:
Li-San Wang Adam C Naj Robert R Graham Paul K Crane Brian W Kunkle Carlos Cruchaga Josue D Gonzalez Murcia Lisa Cannon-Albright Clinton T Baldwin Henrik Zetterberg Kaj Blennow Walter A Kukull Kelley M Faber Nicole Schupf Maria C Norton JoAnn T Tschanz Ronald G Munger Christopher D Corcoran Ekaterina Rogaeva Chiao-Feng Lin Beth A Dombroski Laura B Cantwell Amanda Partch Otto Valladares Hakon Hakonarson Peter St George-Hyslop Robert C Green Alison M Goate Tatiana M Foroud Regina M Carney Eric B Larson Timothy W Behrens John S K Kauwe Jonathan L Haines Lindsay A Farrer Margaret A Pericak-Vance Richard Mayeux Gerard D Schellenberg Marilyn S Albert Roger L Albin Liana G Apostolova Steven E Arnold Robert Barber Michael Barmada Lisa L Barnes Thomas G Beach James T Becker Gary W Beecham Duane Beekly David A Bennett Eileen H Bigio Thomas D Bird Deborah Blacker Bradley F Boeve James D Bowen Adam Boxer James R Burke Joseph D Buxbaum Nigel J Cairns Chuanhai Cao Chris S Carlson Steven L Carroll Helena C Chui David G Clark David H Cribbs Elizabeth A Crocco Charles DeCarli Steven T DeKosky F Yesim Demirci Malcolm Dick Dennis W Dickson Ranjan Duara Nilufer Ertekin-Taner Kenneth B Fallon Martin R Farlow Steven Ferris Matthew P Frosch Douglas R Galasko Mary Ganguli Marla Gearing Daniel H Geschwind Bernardino Ghetti John R Gilbert Jonathan D Glass Neill R Graff-Radford John H Growdon Ronald L Hamilton Kara L Hamilton-Nelson Lindy E Harrell Elizabeth Head Lawrence S Honig Christine M Hulette Bradley T Hyman Gail P Jarvik Gregory A Jicha Lee-Way Jin Gyungah Jun Gyungah Jun M Ilyas Kamboh Anna Karydas Jeffrey A Kaye Ronald Kim Edward H Koo Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Gei Li Andrew P Lieberman Oscar L Lopez Kathryn L Lunetta Constantine G Lyketsos Wendy J Mack Daniel C Marson Eden R Martin Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee W Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller Thomas J Montine John C Morris Jill R Murrell John M Olichney Joseph E Parisi William Perry Elaine Peskind Ronald C Petersen Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Eric M Reiman Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Howard J Rosen Roger N Rosenberg Mary Sano Andrew J Saykin Julie A Schneider Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Debby W Tsuang Vivianna M Van Deerlin Linda J Van Eldik Badri N Vardarajan Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Jennifer Williamson Sarah Wishnek Randall L Woltjer Clinton B Wright Steven G Younkin Chang-En Yu Lei Yu

JAMA Neurol 2015 Feb;72(2):209-16

Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia.

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February 2015

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

Authors:
Jenny Russ Elaine Y Liu Kathryn Wu Donald Neal EunRan Suh David J Irwin Corey T McMillan Matthew B Harms Nigel J Cairns Elisabeth M Wood Sharon X Xie Lauren Elman Leo McCluskey Murray Grossman Vivianna M Van Deerlin Edward B Lee

Acta Neuropathol 2015 Jan 12;129(1):39-52. Epub 2014 Nov 12.

Translational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, 605B Stellar Chance Laboratories, 422 Curie Blvd, Philadelphia, PA, 19104, USA.

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January 2015

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.

Authors:
Lorraine V Kalia Anthony E Lang Lili-Naz Hazrati Shinsuke Fujioka Zbigniew K Wszolek Dennis W Dickson Owen A Ross Vivianna M Van Deerlin John Q Trojanowski Howard I Hurtig Roy N Alcalay Karen S Marder Lorraine N Clark Carles Gaig Eduardo Tolosa Javier Ruiz-Martínez Jose F Marti-Masso Isidre Ferrer Adolfo López de Munain Samuel M Goldman Birgitt Schüle J William Langston Jan O Aasly Maria T Giordana Vincenzo Bonifati Andreas Puschmann Margherita Canesi Gianni Pezzoli Andre Maues De Paula Kazuko Hasegawa Charles Duyckaerts Alexis Brice A Jon Stoessl Connie Marras

JAMA Neurol 2015 Jan;72(1):100-5

The Edmond J. Safra Program in Parkinson's Disease, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399368PMC
January 2015

Early donor chimerism levels predict relapse and survival after allogeneic stem cell transplantation with reduced-intensity conditioning.

Authors:
Ran Reshef Elizabeth O Hexner Alison W Loren Noelle V Frey Edward A Stadtmauer Selina M Luger James K Mangan Saar I Gill Pavel Vassilev Kathryn A Lafferty Jacqueline Smith Vivianna M Van Deerlin Rosemarie Mick David L Porter

Biol Blood Marrow Transplant 2014 Nov 10;20(11):1758-66. Epub 2014 Jul 10.

Abramson Cancer Center and the Division of Hematology & Oncology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1016/j.bbmt.2014.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4194246PMC
November 2014

APOE, MAPT, and SNCA genes and cognitive performance in Parkinson disease.

Authors:
Ignacio F Mata James B Leverenz Daniel Weintraub John Q Trojanowski Howard I Hurtig Vivianna M Van Deerlin Beate Ritz Rebecca Rausch Shannon L Rhodes Stewart A Factor Cathy Wood-Siverio Joseph F Quinn Kathryn A Chung Amie L Peterson Alberto J Espay Fredy J Revilla Johnna Devoto Shu-Ching Hu Brenna A Cholerton Jia Y Wan Thomas J Montine Karen L Edwards Cyrus P Zabetian

JAMA Neurol 2014 Nov;71(11):1405-12

Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, Washington2Parkinson's Disease Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, Washington3Dep.

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http://dx.doi.org/10.1001/jamaneurol.2014.1455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4227942PMC
November 2014

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.

Authors:
Adam C Naj Gyungah Jun Christiane Reitz Brian W Kunkle William Perry Yo Son Park Gary W Beecham Ruchita A Rajbhandary Kara L Hamilton-Nelson Li-San Wang John S K Kauwe Matthew J Huentelman Amanda J Myers Thomas D Bird Bradley F Boeve Clinton T Baldwin Gail P Jarvik Paul K Crane Ekaterina Rogaeva M Michael Barmada F Yesim Demirci Carlos Cruchaga Patricia L Kramer Nilufer Ertekin-Taner John Hardy Neill R Graff-Radford Robert C Green Eric B Larson Peter H St George-Hyslop Joseph D Buxbaum Denis A Evans Julie A Schneider Kathryn L Lunetta M Ilyas Kamboh Andrew J Saykin Eric M Reiman Philip L De Jager David A Bennett John C Morris Thomas J Montine Alison M Goate Deborah Blacker Debby W Tsuang Hakon Hakonarson Walter A Kukull Tatiana M Foroud Eden R Martin Jonathan L Haines Richard P Mayeux Lindsay A Farrer Gerard D Schellenberg Margaret A Pericak-Vance Marilyn S Albert Roger L Albin Liana G Apostolova Steven E Arnold Robert Barber Lisa L Barnes Thomas G Beach James T Becker Duane Beekly Eileen H Bigio James D Bowen Adam Boxer James R Burke Nigel J Cairns Laura B Cantwell Chuanhai Cao Chris S Carlson Regina M Carney Minerva M Carrasquillo Steven L Carroll Helena C Chui David G Clark Jason Corneveaux David H Cribbs Elizabeth A Crocco Charles DeCarli Steven T DeKosky Malcolm Dick Dennis W Dickson Ranjan Duara Kelley M Faber Kenneth B Fallon Martin R Farlow Steven Ferris Matthew P Frosch Douglas R Galasko Mary Ganguli Marla Gearing Daniel H Geschwind Bernardino Ghetti John R Gilbert Jonathan D Glass John H Growdon Ronald L Hamilton Lindy E Harrell Elizabeth Head Lawrence S Honig Christine M Hulette Bradley T Hyman Gregory A Jicha Lee-Way Jin Anna Karydas Jeffrey A Kaye Ronald Kim Edward H Koo Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Ge Li Andrew P Lieberman Chiao-Feng Lin Oscar L Lopez Constantine G Lyketsos Wendy J Mack 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 Jill R Murrell John M Olichney Vernon S Pankratz Joseph E Parisi Henry L Paulson Elaine Peskind Ronald C Petersen Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Barry Reisberg John M Ringman Erik D Roberson Howard J Rosen Roger N Rosenberg Mary Sano Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Otto Valladares Vivianna M Van Deerlin Linda J Van Eldik Badri N Vardarajan Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Jennifer Williamson Sarah Wishnek Randall L Woltjer Clinton B Wright Steven G Younkin Chang-En Yu Lei Yu

JAMA Neurol 2014 Nov;71(11):1394-404

Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois.

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November 2014

Ectopic hypercellular parathyroid tissue of the mediastinum masquerading as metastatic adenocarcinoma on positron emission tomography-computed tomography scan.

Authors:
Charu Aggarwal William Y Shi Christopher D Watt Vivianna M van Deerlin Andrew R Haas Charles B Simone Gordon H Yu

J Clin Oncol 2014 Oct 18;32(30):e101-3. Epub 2014 Feb 18.

Hospital of the University of Pennsylvania, Philadelphia, PA.

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October 2014

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.

Authors:
Elaine Y Liu Jenny Russ Kathryn Wu Donald Neal Eunran Suh Anna G McNally David J Irwin Vivianna M Van Deerlin Edward B Lee

Acta Neuropathol 2014 Oct 8;128(4):525-41. Epub 2014 May 8.

Translational Neuropathology Research Laboratory, Perelman School of Medicine at the University of Pennsylvania, 605B Stellar Chance Laboratories, 422 Curie Blvd, Philadelphia, PA, 19104, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4161616PMC
October 2014

ALS-Plus syndrome: non-pyramidal features in a large ALS cohort.

Authors:
Leo McCluskey Shannon Vandriel Lauren Elman Vivianna M Van Deerlin John Powers Ashley Boller Elisabeth McCarty Wood John Woo Corey T McMillan Katya Rascovsky Murray Grossman

J Neurol Sci 2014 Oct 18;345(1-2):118-24. Epub 2014 Jul 18.

Department of Neurology, University of Pennsylvania, United States. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177937PMC
October 2014

Atypical Alzheimer's disease in an elderly United States resident with amyotrophic lateral sclerosis and pathological tau in spinal motor neurons.

Authors:
Leo F McCluskey Felix Geser Lauren B Elman Vivianna M Van Deerlin John L Robinson Virginia M-Y Lee John Q Trojanowski

Amyotroph Lateral Scler Frontotemporal Degener 2014 Sep 9;15(5-6):466-72. Epub 2014 May 9.

Department of Neurology.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141027PMC
September 2014

TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord.

Authors:
Johannes Brettschneider Kimihito Arai Kelly Del Tredici Jon B Toledo John L Robinson Edward B Lee Satoshi Kuwabara Kazumoto Shibuya David J Irwin Lubin Fang Vivianna M Van Deerlin Lauren Elman Leo McCluskey Albert C Ludolph Virginia M-Y Lee Heiko Braak John Q Trojanowski

Acta Neuropathol 2014 Sep 12;128(3):423-37. Epub 2014 Jun 12.

Center for Neurodegenerative Disease Research (CNDR), University of Pennsylvania School of Medicine, 3rd Floor Maloney Building, 3600 Spruce Street, Philadelphia, PA, 19104, USA,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384652PMC
September 2014

Poly-A binding protein-1 localization to a subset of TDP-43 inclusions in amyotrophic lateral sclerosis occurs more frequently in patients harboring an expansion in C9orf72.

Authors:
Leeanne McGurk Virginia M Lee John Q Trojanowksi Vivianna M Van Deerlin Edward B Lee Nancy M Bonini

J Neuropathol Exp Neurol 2014 Sep;73(9):837-45

From the Department of Biology, University of Pennsylvania (LM, NMB); Translational Neuropathology Research Laboratory, Stellar Chance Laboratories (EBL); and Department of Pathology and Laboratory Medicine, Perelman School of Medicine (VML, JQT, VMVD, EBL), Philadelphia, Pennsylvania.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4149258PMC
September 2014

Myelin oligodendrocyte basic protein and prognosis in behavioral-variant frontotemporal dementia.

Authors:
David J Irwin Corey T McMillan EunRan Suh John Powers Katya Rascovsky Elisabeth M Wood Jon B Toledo Steven E Arnold Virginia M-Y Lee Vivianna M Van Deerlin John Q Trojanowski Murray Grossman

Neurology 2014 Aug 3;83(6):502-9. Epub 2014 Jul 3.

From the Penn Frontotemporal Degeneration Center, Department of Neurology (D.J.I., C.T.M., J.P., K.R., E.M.W., M.G.); Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Institute on Aging, Alzheimer's Disease Core Center (D.J.I., C.T.M., E.S., E.M.W., J.B.T., S.E.A., V.M.-Y.L., V.M.V.D., J.Q.T., M.G.); Penn Memory Center, Department of Neurology (S.E.A.); and Brain-Behavior Laboratory, Departments of Psychiatry, Perelman School of Medicine (S.E.A.), University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/WNL.0000000000000668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141997PMC
August 2014

A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank.

Authors:
Jon B Toledo Vivianna M Van Deerlin Edward B Lee EunRan Suh Young Baek John L Robinson Sharon X Xie Jennifer McBride Elisabeth M Wood Theresa Schuck David J Irwin Rachel G Gross Howard Hurtig Leo McCluskey Lauren Elman Jason Karlawish Gerard Schellenberg Alice Chen-Plotkin David Wolk Murray Grossman Steven E Arnold Leslie M Shaw Virginia M-Y Lee John Q Trojanowski

Alzheimers Dement 2014 Jul 24;10(4):477-484.e1. Epub 2013 Aug 24.

Department of Pathology & Laboratory Medicine, Institute on Aging, Center for Neurodegenerative Disease Research, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jalz.2013.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3933464PMC
July 2014

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.

Authors:
Frank P Diekstra Vivianna M Van Deerlin John C van Swieten Ammar Al-Chalabi Albert C Ludolph Jochen H Weishaupt Orla Hardiman John E Landers Robert H Brown Michael A van Es R Jeroen Pasterkamp Max Koppers Peter M Andersen Karol Estrada Fernando Rivadeneira Albert Hofman André G Uitterlinden Philip van Damme Judith Melki Vincent Meininger Aleksey Shatunov Christopher E Shaw P Nigel Leigh Pamela J Shaw Karen E Morrison Isabella Fogh Adriano Chiò Bryan J Traynor David Czell Markus Weber Peter Heutink Paul I W de Bakker Vincenzo Silani Wim Robberecht Leonard H van den Berg Jan H Veldink

Ann Neurol 2014 Jul 27;76(1):120-33. Epub 2014 Jun 27.

Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1002/ana.24198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4137231PMC
July 2014

Frontotemporal dementia and its subtypes: a genome-wide association study.

Authors:
Raffaele Ferrari Dena G Hernandez Michael A Nalls Jonathan D Rohrer Adaikalavan Ramasamy John B J Kwok Carol Dobson-Stone William S Brooks Peter R Schofield Glenda M Halliday John R Hodges Olivier Piguet Lauren Bartley Elizabeth Thompson Eric Haan Isabel Hernández Agustín Ruiz Mercè Boada Barbara Borroni Alessandro Padovani Carlos Cruchaga Nigel J Cairns Luisa Benussi Giuliano Binetti Roberta Ghidoni Gianluigi Forloni Daniela Galimberti Chiara Fenoglio Maria Serpente Elio Scarpini Jordi Clarimón Alberto Lleó Rafael Blesa Maria Landqvist Waldö Karin Nilsson Christer Nilsson Ian R A Mackenzie Ging-Yuek R Hsiung David M A Mann Jordan Grafman Christopher M Morris Johannes Attems Timothy D Griffiths Ian G McKeith Alan J Thomas P Pietrini Edward D Huey Eric M Wassermann Atik Baborie Evelyn Jaros Michael C Tierney Pau Pastor Cristina Razquin Sara Ortega-Cubero Elena Alonso Robert Perneczky Janine Diehl-Schmid Panagiotis Alexopoulos Alexander Kurz Innocenzo Rainero Elisa Rubino Lorenzo Pinessi Ekaterina Rogaeva Peter St George-Hyslop Giacomina Rossi Fabrizio Tagliavini Giorgio Giaccone James B Rowe Johannes C M Schlachetzki James Uphill John Collinge Simon Mead Adrian Danek Vivianna M Van Deerlin Murray Grossman John Q Trojanowski Julie van der Zee William Deschamps Tim Van Langenhove Marc Cruts Christine Van Broeckhoven Stefano F Cappa Isabelle Le Ber Didier Hannequin Véronique Golfier Martine Vercelletto Alexis Brice Benedetta Nacmias Sandro Sorbi Silvia Bagnoli Irene Piaceri Jørgen E Nielsen Lena E Hjermind Matthias Riemenschneider Manuel Mayhaus Bernd Ibach Gilles Gasparoni Sabrina Pichler Wei Gu Martin N Rossor Nick C Fox Jason D Warren Maria Grazia Spillantini Huw R Morris Patrizia Rizzu Peter Heutink Julie S Snowden Sara Rollinson Anna Richardson Alexander Gerhard Amalia C Bruni Raffaele Maletta Francesca Frangipane Chiara Cupidi Livia Bernardi Maria Anfossi Maura Gallo Maria Elena Conidi Nicoletta Smirne Rosa Rademakers Matt Baker Dennis W Dickson Neill R Graff-Radford Ronald C Petersen David Knopman Keith A Josephs Bradley F Boeve Joseph E Parisi William W Seeley Bruce L Miller Anna M Karydas Howard Rosen John C van Swieten Elise G P Dopper Harro Seelaar Yolande A L Pijnenburg Philip Scheltens Giancarlo Logroscino Rosa Capozzo Valeria Novelli Annibale A Puca Massimo Franceschi Alfredo Postiglione Graziella Milan Paolo Sorrentino Mark Kristiansen Huei-Hsin Chiang Caroline Graff Florence Pasquier Adeline Rollin Vincent Deramecourt Florence Lebert Dimitrios Kapogiannis Luigi Ferrucci Stuart Pickering-Brown Andrew B Singleton John Hardy Parastoo Momeni

Lancet Neurol 2014 Jul;13(7):686-99

Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Science Center, Lubbock, Texas, USA.

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http://dx.doi.org/10.1016/S1474-4422(14)70065-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112126PMC
July 2014

Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.

Authors:
Corey T McMillan Jon B Toledo Brian B Avants Philip A Cook Elisabeth M Wood Eunran Suh David J Irwin John Powers Christopher Olm Lauren Elman Leo McCluskey Gerard D Schellenberg Virginia M-Y Lee John Q Trojanowski Vivianna M Van Deerlin Murray Grossman

Neurobiol Aging 2014 Jun 2;35(6):1473-82. Epub 2013 Dec 2.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.11.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961542PMC
June 2014

Sequential distribution of pTDP-43 pathology in behavioral variant frontotemporal dementia (bvFTD).

Authors:
Johannes Brettschneider Kelly Del Tredici David J Irwin Murray Grossman John L Robinson Jon B Toledo Lubin Fang Vivianna M Van Deerlin Albert C Ludolph Virginia M-Y Lee Heiko Braak John Q Trojanowski

Acta Neuropathol 2014 Mar 10;127(3):423-439. Epub 2014 Jan 10.

Center for Neurodegenerative Disease research (CNDR), Perelman School of Medicine at the University of Pennsylvania, 3rd Floor Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1007/s00401-013-1238-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3971993PMC
March 2014

Analysis of cerebrospinal fluid mitochondrial DNA levels in Alzheimer disease.

Authors:
Neal Sondheimer Ornella Zollo Vivianna Van Deerlin John Q Trojanowski

Ann Neurol 2014 Mar 7;75(3):458-60. Epub 2014 Mar 7.

Departments of Pediatrics, University of Pennsylvania, Philadelphia, PA.

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http://dx.doi.org/10.1002/ana.24107DOI Listing
March 2014

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.

Authors:
Michael D Gallagher Eunran Suh Murray Grossman Lauren Elman Leo McCluskey John C Van Swieten Safa Al-Sarraj Manuela Neumann Ellen Gelpi Bernardino Ghetti Jonathan D Rohrer Glenda Halliday Christine Van Broeckhoven Danielle Seilhean Pamela J Shaw Matthew P Frosch Irina Alafuzoff Anna Antonell Nenad Bogdanovic William Brooks Nigel J Cairns Johnathan Cooper-Knock Carl Cotman Patrick Cras Marc Cruts Peter P De Deyn Charles DeCarli Carol Dobson-Stone Sebastiaan Engelborghs Nick Fox Douglas Galasko Marla Gearing Ilse Gijselinck Jordan Grafman Päivi Hartikainen Kimmo J Hatanpaa J Robin Highley John Hodges Christine Hulette Paul G Ince Lee-Way Jin Janine Kirby Julia Kofler Jillian Kril John B J Kwok Allan Levey Andrew Lieberman Albert Llado Jean-Jacques Martin Eliezer Masliah Christopher J McDermott Ann McKee Catriona McLean Simon Mead Carol A Miller Josh Miller David G Munoz Jill Murrell Henry Paulson Olivier Piguet Martin Rossor Raquel Sanchez-Valle Mary Sano Julie Schneider Lisa C Silbert Salvatore Spina Julie van der Zee Tim Van Langenhove Jason Warren Stephen B Wharton Charles L White Randall L Woltjer John Q Trojanowski Virginia M Y Lee Vivianna Van Deerlin Alice S Chen-Plotkin

Acta Neuropathol 2014 Mar 19;127(3):407-18. Epub 2014 Jan 19.

Cell and Molecular Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s00401-013-1239-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4003885PMC
March 2014

Development and validation of pedigree classification criteria for frontotemporal lobar degeneration.

Authors:
Elisabeth M Wood Dana Falcone Eunran Suh David J Irwin Alice S Chen-Plotkin Edward B Lee Sharon X Xie Vivianna M Van Deerlin Murray Grossman

JAMA Neurol 2013 Nov;70(11):1411-7

Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1001/jamaneurol.2013.3956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906581PMC
November 2013

Reduced CSF p-Tau181 to Tau ratio is a biomarker for FTLD-TDP.

Authors:
William T Hu Kelly Watts Murray Grossman Jonathan Glass James J Lah Chadwick Hales Matthew Shelnutt Vivianna Van Deerlin John Q Trojanowski Allan I Levey

Neurology 2013 Nov 30;81(22):1945-52. Epub 2013 Oct 30.

From the Department of Neurology (W.T.H., K.W., J.G., J.J.L., C.H., M.S., A.I.L.), Center for Neurodegenerative Diseases Research (W.T.H., K.W., J.G., J.J.L., C.H., A.I.L.), Alzheimer's Disease Research Center (W.T.H., J.G., J.J.L., C.H., A.I.L.), Emory University School of Medicine, Atlanta, GA; and Departments of Neurology (M.G.) and Laboratory Medicine and Pathology (V.V.D., J.Q.T.), University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/01.wnl.0000436625.63650.27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3843382PMC
November 2013

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

Authors:
Marka van Blitterswijk Matthew C Baker Mariely DeJesus-Hernandez Roberta Ghidoni Luisa Benussi Elizabeth Finger Ging-Yuek R Hsiung Brendan J Kelley Melissa E Murray Nicola J Rutherford Patricia E Brown Thomas Ravenscroft Bianca Mullen Peter E A Ash Kevin F Bieniek Kimmo J Hatanpaa Anna Karydas Elisabeth McCarty Wood Giovanni Coppola Eileen H Bigio Carol Lippa Michael J Strong Thomas G Beach David S Knopman Edward D Huey Marsel Mesulam Thomas Bird Charles L White Andrew Kertesz Dan H Geschwind Vivianna M Van Deerlin Ronald C Petersen Giuliano Binetti Bruce L Miller Leonard Petrucelli Zbigniew K Wszolek Kevin B Boylan Neill R Graff-Radford Ian R Mackenzie Bradley F Boeve Dennis W Dickson Rosa Rademakers

Neurology 2013 Oct 11;81(15):1332-41. Epub 2013 Sep 11.

From the Departments of Neuroscience (M.v.B., M.C.B., M.D.-H., M.E.M., N.J.R., P.E.B., T.R., B.M., P.E.A.A., K.F.B., L.P., D.W.D., R.R.) and Neurology (Z.K.W., K.B.B., N.R.G.-R.), Mayo Clinic, Jacksonville, FL; Proteomics Unit and NeuroBioGen Lab-Memory Clinic (R.G., L.B., G.B.), IRCCS Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy; Department of Clinical Neurological Sciences (E.F., M.J.S.), Schulich School of Medicine and Dentistry, The University of Western Ontario, London, Canada; Division of Neurology (G.-Y.R.H.), and Department of Pathology and Laboratory Medicine (I.R.M.), University of British Columbia, Vancouver, Canada; Department of Neurology (B.J.K., D.S.K., R.C.P., B.F.B.), Mayo Clinic, Rochester, MN; Department of Pathology and Alzheimer's Disease Center (K.J.H., C.L.W.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (A.K., B.L.M.), University of California, San Francisco; Center for Neurodegenerative Disease Research (E.M.W., V.M.V.D.), Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia; Department of Neurology (G.C., D.H.G.), The David Geffen School of Medicine at University of California, Los Angeles; Cognitive Neurology & Alzheimer Disease Center (E.H.B., M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; Department of Neurology (C.L.), Drexel University College of Medicine, Philadelphia, PA; Molecular Brain Research Group (M.J.S.), Robarts Research Institute, London, Canada; Banner Sun Health Research Institute (T.G.B.), Sun City, AZ; Cognitive Neuroscience Section (E.D.H.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Departments of Psychiatry and Neurology (E.D.H.), Columbia University, New York; and Department of Neurology (T.B.), University of Washington School of Medicine, Seattle.

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http://dx.doi.org/10.1212/WNL.0b013e3182a8250cDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806926PMC
October 2013

The CT appearance of lower respiratory infection due to parainfluenza virus in adults.

Authors:
Timothy Herbst Vivianna M Van Deerlin Wallace T Miller

AJR Am J Roentgenol 2013 Sep;201(3):550-4

Department of Radiology, University of Pennsylvania School of Medicine, 3400 Spruce St, Silverstein 1, Philadelphia, PA 19104, USA.

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http://www.ajronline.org/doi/10.2214/AJR.12.9613
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http://dx.doi.org/10.2214/AJR.12.9613DOI Listing
September 2013

Acetylated tau neuropathology in sporadic and hereditary tauopathies.

Authors:
David J Irwin Todd J Cohen Murray Grossman Steven E Arnold Elisabeth McCarty-Wood Vivianna M Van Deerlin Virginia M-Y Lee John Q Trojanowski

Am J Pathol 2013 Aug;183(2):344-51

Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104-4283, USA.

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http://dx.doi.org/10.1016/j.ajpath.2013.04.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3730769PMC
August 2013

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis.

Authors:
Johannes Brettschneider Kelly Del Tredici Jon B Toledo John L Robinson David J Irwin Murray Grossman EunRan Suh Vivianna M Van Deerlin Elisabeth M Wood Young Baek Linda Kwong Edward B Lee Lauren Elman Leo McCluskey Lubin Fang Simone Feldengut Albert C Ludolph Virginia M-Y Lee Heiko Braak John Q Trojanowski

Ann Neurol 2013 Jul 19;74(1):20-38. Epub 2013 Jun 19.

Center for Neurodegenerative Disease Research (CNDR), University of Pennsylvania School of Medicine, 3rd Floor Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.

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http://doi.wiley.com/10.1002/ana.23937
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http://dx.doi.org/10.1002/ana.23937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3785076PMC
July 2013

Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.

Authors:
Lama M Chahine Judy Qiang Emily Ashbridge James Minger Dora Yearout Stacy Horn Amy Colcher Howard I Hurtig Virginia M-Y Lee Vivianna M Van Deerlin James B Leverenz Andrew D Siderowf John Q Trojanowski Cyrus P Zabetian Alice Chen-Plotkin

JAMA Neurol 2013 Jul;70(7):852-8

Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia 19104, USA.

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http://dx.doi.org/10.1001/jamaneurol.2013.1274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762458PMC
July 2013

Expression of TMEM106B, the frontotemporal lobar degeneration-associated protein, in normal and diseased human brain.

Authors:
Johanna I Busch Maria Martinez-Lage Emily Ashbridge Murray Grossman Vivianna M Van Deerlin Fenghua Hu Virginia M Y Lee John Q Trojanowski Alice S Chen-Plotkin

Acta Neuropathol Commun 2013 Jul 11;1:36. Epub 2013 Jul 11.

Departments of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1186/2051-5960-1-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893524PMC
July 2013

Topography of FUS pathology distinguishes late-onset BIBD from aFTLD-U.

Authors:
Edward B Lee Jenny Russ Hyunjoo Jung Lauren B Elman Lama M Chahine Daniel Kremens Bruce L Miller H Branch Coslett John Q Trojanowski Vivianna M Van Deerlin Leo F McCluskey

Acta Neuropathol Commun 2013 May;1(9):1-11

Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA ; Translational Neuropathology Research Laboratory, 605B Stellar Chance Laboratories, 422 Curie Blvd, Philadelphia, PA 19104, USA ; Department of Pathology and Laboratory Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1186/2051-5960-1-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3767453PMC
May 2013