Stuart Pickering-Brown

Stuart Pickering-Brown

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Stuart Pickering-Brown

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

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

Nat Genet 2019 Aug 15. Epub 2019 Aug 15.

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

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

Heritability and genetic variance of dementia with Lewy bodies.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model.

Hum Mol Genet 2018 05;27(10):1754-1762

Department of Neurosciences, Research Center of the University of Montréal Hospital Center (CRCHUM), Université de Montréal, Montréal, QC H2X 0A9, Canada.

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http://dx.doi.org/10.1093/hmg/ddy083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932562PMC
May 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

Immunohistochemical detection of C9orf72 protein in frontotemporal lobar degeneration and motor neurone disease: patterns of immunostaining and an evaluation of commercial antibodies.

Amyotroph Lateral Scler Frontotemporal Degener 2018 02 2;19(1-2):102-111. Epub 2017 Aug 2.

a Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health , University of Manchester, Salford Royal Hospital , Salford , UK.

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http://dx.doi.org/10.1080/21678421.2017.1359304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836993PMC
February 2018

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

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

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

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

Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration.

Acta Neuropathol Commun 2017 06 30;5(1):54. Epub 2017 Jun 30.

Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Salford Royal Hospital, M6 8HD, Salford, UK.

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http://dx.doi.org/10.1186/s40478-017-0454-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493127PMC
June 2017

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

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

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

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

Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size.

Hum Mol Genet 2016 12;25(23):5069-5082

Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, University of Manchester, AV Hill Building, Oxford Road, Manchester, UK.

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http://dx.doi.org/10.1093/hmg/ddw327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886041PMC
December 2016

Semantic Corticobasal Dementia: Challenging Nosology in Frontotemporal Lobe Degeneration.

Alzheimer Dis Assoc Disord 2015 Oct-Dec;29(4):360-3

*Department of Clinical and Experimental Medicine, Polytechnic University of Marche †Nuclear Medicine Department, Ospedali Riuniti di Ancona, Ancona ‡Department of Psychology, Milano-Bicocca University, Milano, Italy §Mental Health and Neurodegeneration Research Group, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1097/WAD.0000000000000064DOI Listing
September 2016

Identification of biological pathways regulated by PGRN and GRN peptide treatments using transcriptome analysis.

Eur J Neurosci 2016 09 9;44(5):2214-25. Epub 2016 Jul 9.

Institute of Brain Behaviour and Mental Health, University of Manchester, AV Hill Building, Ackers Street, Manchester, M13 9PT, UK.

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http://dx.doi.org/10.1111/ejn.13297DOI Listing
September 2016

Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations.

Amyotroph Lateral Scler Frontotemporal Degener 2015 16;16(7-8):497-505. Epub 2015 Oct 16.

b Institute of Brain, Behaviour and Mental Health, Faculty of Human and Medical Sciences, University of Manchester , Manchester , UK.

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http://dx.doi.org/10.3109/21678421.2015.1074700DOI Listing
August 2016

Left hand dystonia as a recurring feature of a family carrying C9ORF72 mutation.

J Neurol Neurosurg Psychiatry 2016 07 17;87(7):793-5. Epub 2015 Jul 17.

Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1136/jnnp-2015-311311DOI Listing
July 2016

Psychosis associated with expansions in the C9orf72 gene: the influence of a 10 base pair gene deletion.

J Neurol Neurosurg Psychiatry 2016 May 2;87(5):562-3. Epub 2015 Apr 2.

Faculty of Human and Medical Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1136/jnnp-2015-310441DOI Listing
May 2016

Pathological tau deposition in Motor Neurone Disease and frontotemporal lobar degeneration associated with TDP-43 proteinopathy.

Acta Neuropathol Commun 2016 Mar 31;4:33. Epub 2016 Mar 31.

Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford, M6 8HD, UK.

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http://dx.doi.org/10.1186/s40478-016-0301-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818389PMC
March 2016

Is SIGMAR1 a confirmed FTD/MND gene?

Brain 2015 Nov 18;138(Pt 11):e393. Epub 2015 Jun 18.

2 Reta Lilla Weston Research Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK

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http://dx.doi.org/10.1093/brain/awv173DOI Listing
November 2015

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.

Acta Neuropathol 2015 Jul 6;130(1):63-75. Epub 2015 May 6.

Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, 385A Glossop Road, Sheffield, S10 2HQ, UK.

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http://dx.doi.org/10.1007/s00401-015-1429-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468790PMC
July 2015

p62/SQSTM1 analysis in frontotemporal lobar degeneration.

Neurobiol Aging 2015 Mar 18;36(3):1603.e5-9. Epub 2014 Oct 18.

Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.035DOI Listing
March 2015

Plasma levels of progranulin and interleukin-6 in frontotemporal lobar degeneration.

Neurobiol Aging 2015 Mar 18;36(3):1603.e1-4. Epub 2014 Oct 18.

Faculty of Human and Medical Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK; Cerebral Function Unit, Department of Neurology, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.10.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504979PMC
March 2015

Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.

Neurobiol Aging 2015 Mar 12;36(3):1601.e1-5. Epub 2014 Dec 12.

Faculty of Human and Medical Sciences, Institute of Brain Behaviour and Mental Health, University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4353501PMC
March 2015

Histone deacetylases (HDACs) in frontotemporal lobar degeneration.

Neuropathol Appl Neurobiol 2015 Feb;41(2):245-57

Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford, UK.

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http://dx.doi.org/10.1111/nan.12153DOI Listing
February 2015

UBQLN2 variant of unknown significance in frontotemporal lobar degeneration.

Neurobiol Aging 2015 Jan 6;36(1):546.e15-6. Epub 2014 Aug 6.

Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.002DOI Listing
January 2015

TREM2 analysis and increased risk of Alzheimer's disease.

Neurobiol Aging 2015 Jan 27;36(1):546.e9-13. Epub 2014 Aug 27.

Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.001DOI Listing
January 2015

No interaction between tau and TDP-43 pathologies in either frontotemporal lobar degeneration or motor neurone disease.

Neuropathol Appl Neurobiol 2014 Dec;40(7):844-54

Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford.

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http://doi.wiley.com/10.1111/nan.12155
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http://dx.doi.org/10.1111/nan.12155DOI Listing
December 2014

Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS.

Exp Neurol 2014 Dec 8;262 Pt B:84-90. Epub 2014 Jun 8.

Institute of Brain, Behaviour and Mental Health, University of Manchester, Oxford Road, Manchester, M13 9PT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2014.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221591PMC
December 2014

Patterns of microglial cell activation in frontotemporal lobar degeneration.

Neuropathol Appl Neurobiol 2014 Oct;40(6):686-96

Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford, UK.

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http://dx.doi.org/10.1111/nan.12092DOI Listing
October 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

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

Acta Neuropathol Commun 2014 Jun 20;2:70. Epub 2014 Jun 20.

Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford M6 8HD, UK.

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http://dx.doi.org/10.1186/2051-5960-2-70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229740PMC
June 2014

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.

Mov Disord 2014 Feb 13;29(2):245-51. Epub 2013 Nov 13.

Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, London, United Kingdom.

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http://doi.wiley.com/10.1002/mds.25732
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http://dx.doi.org/10.1002/mds.25732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208301PMC
February 2014

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

Acta Neuropathol Commun 2013 Oct 14;1:68. Epub 2013 Oct 14.

Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford M6 8HD, UK.

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http://dx.doi.org/10.1186/2051-5960-1-68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893586PMC
October 2013

Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Apr 19;14(3):172-6. Epub 2013 Feb 19.

Manchester Academic Health Sciences Centre, Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford, UK.

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http://dx.doi.org/10.3109/21678421.2013.765485DOI Listing
April 2013

Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions.

Int J Mol Epidemiol Genet 2012 15;3(4):262-75. Epub 2012 Nov 15.

Human Genetics, School of Molecular Medical Sciences, Queens Medical Centre, University of Nottingham Nottingham, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3508540PMC
December 2012

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.

Arch Neurol 2012 Oct;69(10):1351-4

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, England.

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http://dx.doi.org/10.1001/archneurol.2012.1472DOI Listing
October 2012

Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease.

Neurobiol Aging 2012 Aug 10;33(8):1846.e5-6. Epub 2012 Mar 10.

Mental Health and Neurodegeneration Research Group, Faculty of Human and Medical Sciences, University of Manchester, AV Hill Building, Oxford Road, Manchester M13 9PT, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.01.109DOI Listing
August 2012

Analysis of optineurin in frontotemporal lobar degeneration.

Neurobiol Aging 2012 Feb 12;33(2):425.e1-2. Epub 2010 Nov 12.

Neurodegeneration and Mental Health Research Group, Faculty of Human and Medical Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2010.10.002DOI Listing
February 2012

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Neuron 2011 Oct 21;72(2):257-68. Epub 2011 Sep 21.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200438PMC
October 2011

UBAP1 is a component of an endosome-specific ESCRT-I complex that is essential for MVB sorting.

Curr Biol 2011 Jul 14;21(14):1245-50. Epub 2011 Jul 14.

Faculty of Life Sciences, University of Manchester, Manchester M13 9PT, UK.

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http://dx.doi.org/10.1016/j.cub.2011.06.028DOI Listing
July 2011

No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration.

Neurobiol Aging 2011 Apr 14;32(4):754-5. Epub 2009 May 14.

Clinical Neurosciences Research Group, Faculty of Human and Medical Sciences, University of Manchester, Oxford Road, Manchester, M13 9PT, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2009.04.009DOI Listing
April 2011

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis.

Neurobiol Aging 2011 Apr 22;32(4):758.e1-7. Epub 2011 Jan 22.

Neurodegeneration and Mental Health Research Group, Faculty of Human and Medical Sciences, University of Manchester, AV, Hill Building, Oxford Road, Manchester, M13 9PT, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2010.12.005DOI Listing
April 2011

The genetics of frontotemporal dementia.

Handb Clin Neurol 2008 ;89:383-92

Division of Regenerative Medicine, University of Manchester, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S007297520701236
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http://dx.doi.org/10.1016/S0072-9752(07)01236-5DOI Listing
December 2010

Effect of topographical distribution of α-synuclein pathology on TDP-43 accumulation in Lewy body disease.

Acta Neuropathol 2010 Dec 29;120(6):789-801. Epub 2010 Jul 29.

Greater Manchester Neurosciences Centre, Hope Hospital, University of Manchester, Salford, UK.

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http://link.springer.com/10.1007/s00401-010-0731-9
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http://dx.doi.org/10.1007/s00401-010-0731-9DOI Listing
December 2010

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Authors:
Vivianna M Van Deerlin Patrick M A Sleiman Maria Martinez-Lage Alice Chen-Plotkin Li-San Wang Neill R Graff-Radford Dennis W Dickson Rosa Rademakers Bradley F Boeve Murray Grossman Steven E Arnold David M A Mann Stuart M Pickering-Brown Harro Seelaar Peter Heutink John C van Swieten Jill R Murrell Bernardino Ghetti Salvatore Spina Jordan Grafman John Hodges Maria Grazia Spillantini Sid Gilman Andrew P Lieberman Jeffrey A Kaye Randall L Woltjer Eileen H Bigio Marsel Mesulam Safa Al-Sarraj Claire Troakes Roger N Rosenberg Charles L White Isidro Ferrer Albert Lladó Manuela Neumann Hans A Kretzschmar Christine Marie Hulette Kathleen A Welsh-Bohmer Bruce L Miller Ainhoa Alzualde Adolfo Lopez de Munain Ann C McKee Marla Gearing Allan I Levey James J Lah John Hardy Jonathan D Rohrer Tammaryn Lashley Ian R A Mackenzie Howard H Feldman Ronald L Hamilton Steven T Dekosky Julie van der Zee Samir Kumar-Singh Christine Van Broeckhoven Richard Mayeux Jean Paul G Vonsattel Juan C Troncoso Jillian J Kril John B J Kwok Glenda M Halliday Thomas D Bird Paul G Ince Pamela J Shaw Nigel J Cairns John C Morris Catriona Ann McLean Charles DeCarli William G Ellis Stefanie H Freeman Matthew P Frosch John H Growdon Daniel P Perl Mary Sano David A Bennett Julie A Schneider Thomas G Beach Eric M Reiman Bryan K Woodruff Jeffrey Cummings Harry V Vinters Carol A Miller Helena C Chui Irina Alafuzoff Päivi Hartikainen Danielle Seilhean Douglas Galasko Eliezer Masliah Carl W Cotman M Teresa Tuñón M Cristina Caballero Martínez David G Munoz Steven L Carroll Daniel Marson Peter F Riederer Nenad Bogdanovic Gerard D Schellenberg Hakon Hakonarson John Q Trojanowski Virginia M-Y Lee

Nat Genet 2010 Mar 14;42(3):234-9. Epub 2010 Feb 14.

[1] Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA. [2] These authors contributed equally to this work.

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http://dx.doi.org/10.1038/ng.536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2828525PMC
March 2010

Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration.

Neurogenetics 2009 Oct 14;10(4):313-8. Epub 2009 Apr 14.

Laboratory of Human Molecular Biology and Genetics, Catholic University of the Sacred Heart, Piazza Buonarroti 30, 20145, Milan, Italy.

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http://link.springer.com/10.1007/s10048-009-0189-x
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http://dx.doi.org/10.1007/s10048-009-0189-xDOI Listing
October 2009

TDP-43 in ubiquitinated inclusions in the inferior olives in frontotemporal lobar degeneration and in other neurodegenerative diseases: a degenerative process distinct from normal ageing.

Acta Neuropathol 2009 Sep 28;118(3):359-69. Epub 2009 Mar 28.

Clinical Neuroscience Research Group, Faculty of Medical and Human Sciences, Greater Manchester Neurosciences Centre, School of Translational Medicine, Hope Hospital, University of Manchester, Salford, M6 8HD, UK.

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http://dx.doi.org/10.1007/s00401-009-0526-zDOI Listing
September 2009

TDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer's disease and frontotemporal lobar degeneration.

Acta Neuropathol 2008 Aug 28;116(2):141-6. Epub 2008 May 28.

Division of Biomedical and Life Sciences, School of Health and Medicine, University of Lancaster, Lancaster, UK.

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http://dx.doi.org/10.1007/s00401-008-0389-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2464623PMC
August 2008

Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.

Brain 2008 Mar 11;131(Pt 3):721-31. Epub 2008 Jan 11.

Clinical Neuroscience Research Group, Faculty of Medical and Human Sciences, University of Manchester, Oxford Rd, Manchester M13 9PT, UK.

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http://dx.doi.org/10.1093/brain/awm331DOI Listing
March 2008

The genetics of frontotemporal lobar degeneration.

Curr Opin Neurol 2007 Dec;20(6):693-8

Clinical Neurosciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1097/WCO.0b013e3282f1c961DOI Listing
December 2007

Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease.

Arch Neurol 2007 Oct;64(10):1535-9

Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Lower Lane, Liverpool L9 7LJ, England.

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http://dx.doi.org/10.1001/archneur.64.10.1535DOI Listing
October 2007

Progressive anomia revisited: focal degeneration associated with progranulin gene mutation.

Neurocase 2007 Oct;13(5):366-77

School of Translational Medicine, University of Manchester, Hope Hospital, Salford, UK.

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http://dx.doi.org/10.1080/13554790701851510DOI Listing
October 2007

Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43.

J Neurosci 2007 Sep;27(39):10530-4

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

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http://dx.doi.org/10.1523/JNEUROSCI.3421-07.2007DOI Listing
September 2007

The complex aetiology of frontotemporal lobar degeneration.

Exp Neurol 2007 Jul 24;206(1):1-10. Epub 2007 Mar 24.

Division of Regenerative Medicine, Stopford Building, University of Manchester, Oxford Road, Manchester, and Hope Hospital, Salford, M6 8HD, UK.

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http://dx.doi.org/10.1016/j.expneurol.2007.03.017DOI Listing
July 2007

Progranulin and frontotemporal lobar degeneration.

Acta Neuropathol 2007 Jul 16;114(1):39-47. Epub 2007 Jun 16.

Division of Regenerative Medicine, Stopford Building, University of Manchester, Oxford Road, Manchester, M13 9PT, UK.

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http://dx.doi.org/10.1007/s00401-007-0241-6DOI Listing
July 2007

Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43.

Acta Neuropathol 2007 May 12;113(5):521-33. Epub 2007 Jan 12.

Clinical Neuroscience Research Group, Division of Medicine and Neuroscience, Greater Manchester Neurosciences Centre, Hope Hospital, University of Manchester, Salford, M6 8HD, UK,

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http://dx.doi.org/10.1007/s00401-006-0189-yDOI Listing
May 2007

TDP-43 gene analysis in frontotemporal lobar degeneration.

Neurosci Lett 2007 May 24;419(1):1-4. Epub 2007 Mar 24.

Division of Regenerative Medicine, Department of Medicine, University of Manchester, Oxford Road, Manchester M13 9PT, UK.

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http://dx.doi.org/10.1016/j.neulet.2007.03.044DOI Listing
May 2007

Apolipoprotein E epsilon4 allele frequency and age at onset of Alzheimer's disease.

Dement Geriatr Cogn Disord 2007 14;23(1):60-6. Epub 2006 Nov 14.

Clinical Neuroscience Research Group, Division of Medicine and Neuroscience, University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital, Salford, UK.

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http://dx.doi.org/10.1159/000097038DOI Listing
February 2007

The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene.

Brain 2006 Nov;129(Pt 11):3081-90

Department of Pathology and Laboratory Medicine, University of British Columbia and Vancouver Coastal Health Vancouver, BC, Canada.

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http://dx.doi.org/10.1093/brain/awl271DOI Listing
November 2006

CHMP2B mutations are not a common cause of frontotemporal lobar degeneration.

Neurosci Lett 2006 May 23;398(1-2):83-4. Epub 2006 Jan 23.

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

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http://dx.doi.org/10.1016/j.neulet.2005.12.056DOI Listing
May 2006

Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation.

Acta Neuropathol 2005 Nov 13;110(5):501-12. Epub 2005 Oct 13.

Clinical Neuroscience Research Group, University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital, Stott Lane, Salford M6 8HD, UK.

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http://dx.doi.org/10.1007/s00401-005-1079-4DOI Listing
November 2005