Christopher E Shaw

Christopher E Shaw

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Christopher E Shaw

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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

C9orf72 intermediate expansions of 24-30 repeats are associated with ALS.

Acta Neuropathol Commun 2019 Jul 17;7(1):115. Epub 2019 Jul 17.

Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.

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http://dx.doi.org/10.1186/s40478-019-0724-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637621PMC
July 2019

Heterogeneous Nuclear Ribonucleoprotein E2 (hnRNP E2) Is a Component of TDP-43 Aggregates Specifically in the A and C Pathological Subtypes of Frontotemporal Lobar Degeneration.

Front Neurosci 2019 4;13:551. Epub 2019 Jun 4.

London Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.

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http://dx.doi.org/10.3389/fnins.2019.00551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558155PMC
June 2019

Telomere length is greater in ALS than in controls: a whole genome sequencing study.

Amyotroph Lateral Scler Frontotemporal Degener 2019 May 1;20(3-4):229-234. Epub 2019 Apr 1.

a Department of Basic and Clinical Neuroscience , King's College London, Maurice Wohl Clinical Neuroscience Institute , London , UK.

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http://dx.doi.org/10.1080/21678421.2019.1586951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567548PMC
May 2019

Predicting the future of ALS: the impact of demographic change and potential new treatments on the prevalence of ALS in the United Kingdom, 2020-2116.

Amyotroph Lateral Scler Frontotemporal Degener 2019 May 9;20(3-4):264-274. Epub 2019 Apr 9.

a Department of Basic and Clinical Neuroscience , King's College London, Maurice Wohl Clinical Neuroscience Institute , London , UK.

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http://dx.doi.org/10.1080/21678421.2019.1587629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567553PMC
May 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

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.

Neurobiol Aging 2019 01 24;73:229.e5-229.e9. Epub 2018 Aug 24.

United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183030
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.08.015DOI Listing
January 2019

ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS.

Neurology 2018 10 12;91(15):e1370-e1380. Epub 2018 Sep 12.

From Human Cognitive Neuroscience (C.C., J.N., T.B., R.R., S.A.), Psychology, Philosophy, Psychology and Language Sciences, Euan MacDonald Centre for Motor Neurone Disease Research (C.C., S.A.), and Alzheimer Scotland Dementia Research Centre (R.R.), University of Edinburgh; Anne Rowling Regenerative Neurology Clinic (J.N., S.C., S.P., R.R., L.S., R.S., S.A.), Royal Infirmary of Edinburgh, UK; Academic Unit of Neurology (K.L., M.H., I.M., M.P.-G., A.V., O.H.), Trinity College Dublin; Departments of Psychology (K.L., I.M., N.P., M.P.-G.) and Neurology (O.H.), Beaumont Hospital, Dublin, Ireland; and Maurice Wohl Clinical Neuroscience Institute (T.C., C.E.S., A.A.-C.), Department of Basic and Clinical Neuroscience, King's College London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000006317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177274PMC
October 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

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.

Hum Mol Genet 2017 12;26(24):4765-4777

United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London SE5 9NU, UK.

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https://academic.oup.com/hmg/article/26/24/4765/4157469
Publisher Site
http://dx.doi.org/10.1093/hmg/ddx350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886201PMC
December 2017

The benefit of evolving multidisciplinary care in ALS: a diagnostic cohort survival comparison.

Amyotroph Lateral Scler Frontotemporal Degener 2017 11 18;18(7-8):569-575. Epub 2017 Jul 18.

a Department of Basic and Clinical Neuroscience , Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London , London , UK.

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http://dx.doi.org/10.1080/21678421.2017.1349151DOI Listing
November 2017

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2016 Oct - Nov;17(7-8):593-599. Epub 2016 Sep 1.

a Maurice Wohl Clinical Neuroscience Institute, King's College London, Institute of Psychiatry, Psychology and Neuroscience , London , UK.

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http://dx.doi.org/10.1080/21678421.2016.1213852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125285PMC
October 2017

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials.

Neurology 2017 Oct 4;89(18):1915-1922. Epub 2017 Oct 4.

From the Department of Neurology, Brain Centre Rudolf Magnus (R.P.A.v.E., F.P.D., W.v.R., J.H.V., L.H.v.d.B., M.A.v.E.), and Department of Biostatistics and Research Support (M.J.C.E.), University Medical Centre Utrecht, the Netherlands; Maurice Wohl Clinical Neuroscience Institute and United Kingdom Dementia Research Institute Centre (A.R.J., W.S., A.S., C.E.S., A.A.-C.), Department of Basic and Clinical Neuroscience, King's College London; Sheffield Institute for Translational Neuroscience (SITraN) (P.J.S.), University of Sheffield, South Yorkshire; Department of Clinical Neuroscience (P.N.L.), Trafford Centre for Biomedical Research, Brighton and Sussex Medical School, Falmer, Brighton; The Walton Centre NHS Trust (C.A.Y.), Liverpool, UK; Istituti Clinici Scientifici Maugeri IRCSS (G.M.), Milan; Department of Neuroscience (J.M.), Sant'Agostino-Estense Hospital and University of Modena and Reggio Emilia, Modena; Department of Neurology (G.B.), Azienda Universitario Ospedaliera di Cagliari and University of Cagliari; Istituti Clinici Scientifici Maugeri IRCSS (P.V.), Mistretta, Italy; Rijnstate Ziekenhuis (E.V.), Arnhem, the Netherlands; Rita Levi Montalcini' Department of Neuroscience (A.C.), ALS Centre, University of Torino; and Azienda Ospedaliera Città della Salute e della Scienza (A.C.), Turin, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000004606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664299PMC
October 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

RNA Misprocessing in -Linked Neurodegeneration.

Front Cell Neurosci 2017 11;11:195. Epub 2017 Jul 11.

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College LondonLondon, United Kingdom.

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http://dx.doi.org/10.3389/fncel.2017.00195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5504096PMC
July 2017

C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue.

Neurobiol Aging 2017 01 5;49:214.e1-214.e5. Epub 2016 Jul 5.

Centre for Brain Research, University of Auckland, Auckland, New Zealand; Department of Anatomy and Medical Imaging, University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.06.019DOI Listing
January 2017

A clinical tool for predicting survival in ALS.

J Neurol Neurosurg Psychiatry 2016 12 4;87(12):1361-1367. Epub 2016 Jul 4.

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

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http://dx.doi.org/10.1136/jnnp-2015-312908DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5136716PMC
December 2016

Reply: The role of DNAJB2 in amyotrophic lateral sclerosis.

Brain 2016 Oct 21;139(Pt 10):e58. Epub 2016 Jun 21.

Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK

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http://dx.doi.org/10.1093/brain/aww155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035816PMC
October 2016

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Nat Genet 2016 09 25;48(9):1037-42. Epub 2016 Jul 25.

Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560030PMC
September 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

Regionality of disease progression predicts prognosis in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2015 17;16(7-8):442-7. Epub 2015 Jun 17.

a Department of Basic and Clinical Neuroscience , Institute of Psychiatry, Psychology & Neuroscience, King's College London , UK.

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http://dx.doi.org/10.3109/21678421.2015.1051987DOI Listing
August 2016

Impact of disease, cognitive and behavioural factors on caregiver outcome in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2015 22;16(5-6):316-23. Epub 2015 Jul 22.

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

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http://dx.doi.org/10.3109/21678421.2015.1051990DOI Listing
August 2016

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis.

Brain 2016 05 1;139(Pt 5):1417-32. Epub 2016 Mar 1.

Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK

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http://dx.doi.org/10.1093/brain/aww028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845254PMC
May 2016

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Nat Commun 2016 Apr 15;7:11253. Epub 2016 Apr 15.

Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.

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http://dx.doi.org/10.1038/ncomms11253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835537PMC
April 2016

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.

Acta Neuropathol Commun 2016 Feb 25;4:18. Epub 2016 Feb 25.

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, London, SE5 9NU, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766718PMC
February 2016

Lack of association between TDP-43 pathology and tau mis-splicing in Alzheimer's disease.

Neurobiol Aging 2016 Jan 9;37:45-46. Epub 2015 Oct 9.

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.09.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706155PMC
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.

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

Phosphorylation of C-terminal tyrosine residue 526 in FUS impairs its nuclear import.

J Cell Sci 2015 Nov 24;128(22):4151-9. Epub 2015 Sep 24.

Jožef Stefan Institute, Department of Biotechnology, Jamova 39, Ljubljana 1000, Slovenia Biomedical Research Institute BRIS, Puhova 10, Ljubljana 1000, Slovenia

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http://dx.doi.org/10.1242/jcs.176602DOI Listing
November 2015

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.

Neurobiol Aging 2015 Oct 13;36(10):2908.e17-8. Epub 2015 Jul 13.

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.07.014DOI Listing
October 2015

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.

Acta Neuropathol Commun 2015 Oct 9;3:62. Epub 2015 Oct 9.

Department Of Clinical Neuropathology, Academic Neuroscience Building, King's College Hospital, Denmark Hill, SE5 9RS, London, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4600255PMC
October 2015

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS.

Acta Neuropathol Commun 2015 Jun 25;3:36. Epub 2015 Jun 25.

King's Centre for Neurodegeneration Research, Kings College London, Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology and Neuroscience, London, SE5 8AF, UK.

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http://dx.doi.org/10.1186/s40478-015-0212-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479086PMC
June 2015

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.

Acta Neuropathol Commun 2015 Jun 25;3:38. Epub 2015 Jun 25.

Department of Basic and Clinical Neurosciences, Maurice Wohl Clinical Neurosciences Institute, Institute of Psychiatry, Psychology and Neuroscience, Kings College London, London, SE5 8AF, UK.

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http://dx.doi.org/10.1186/s40478-015-0218-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479315PMC
June 2015

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes.

Neurobiol Aging 2015 May 19;36(5):2006.e1-9. Epub 2015 Feb 19.

Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.02.017DOI Listing
May 2015

TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.

Neurotherapeutics 2015 Apr;12(2):352-63

Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, de Crespigny Park, London, SE5 8AF, UK.

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http://dx.doi.org/10.1007/s13311-015-0338-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404432PMC
April 2015

Erratum to: TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.

Neurotherapeutics 2015 Apr;12(2):515-8

Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, de Crespigny Park, London, SE5 8AF, UK.

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http://dx.doi.org/10.1007/s13311-015-0351-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404465PMC
April 2015

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

Neurobiol Aging 2015 Mar 31;36(3):1602.e17-27. Epub 2014 Oct 31.

Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's Health Partners, King's College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.10.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357530PMC
March 2015

Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability.

Nat Commun 2015 Jan 12;6:5999. Epub 2015 Jan 12.

1] School of Psychology and Neuroscience, University of St. Andrews, Westburn Lane, St. Andrews KY16 9JP, UK [2] Euan MacDonald Centre for Motor Neurone Disease Research, Edinburgh EH16 4SB, UK.

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http://dx.doi.org/10.1038/ncomms6999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338554PMC
January 2015

Evidence of an environmental effect on survival in ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2014 Dec 27;15(7-8):528-33. Epub 2014 May 27.

King's College London Medical School , London.

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http://dx.doi.org/10.3109/21678421.2014.911326DOI Listing
December 2014

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene.

Amyotroph Lateral Scler Frontotemporal Degener 2014 Dec 5;15(7-8):557-62. Epub 2014 Jun 5.

Nuffield Department of Clinical Neurosciences, University of Oxford.

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http://dx.doi.org/10.3109/21678421.2014.920033DOI Listing
December 2014

The evaluation of pain in amyotrophic lateral sclerosis: a case controlled observational study.

Amyotroph Lateral Scler Frontotemporal Degener 2014 Dec 10;15(7-8):520-7. Epub 2014 Sep 10.

Kings College London, Institute of Psychiatry, Department of Clinical Neurosciences , London.

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http://dx.doi.org/10.3109/21678421.2014.951944DOI Listing
December 2014

Estimating clinical stage of amyotrophic lateral sclerosis from the ALS Functional Rating Scale.

Amyotroph Lateral Scler Frontotemporal Degener 2014 Jun 10;15(3-4):279-84. Epub 2014 Apr 10.

King's College London, Institute of Psychiatry, Department of Clinical Neuroscience.

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http://dx.doi.org/10.3109/21678421.2014.897357DOI Listing
June 2014

ER-mitochondria associations are regulated by the VAPB-PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43.

Nat Commun 2014 Jun 3;5:3996. Epub 2014 Jun 3.

1] Department of Neuroscience, Institute of Psychiatry, Kings College London, London SE5 8AF, UK [2] Clinical Neurosciences, Institute of Psychiatry, Kings College London, London SE5 8AF, UK.

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http://dx.doi.org/10.1038/ncomms4996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4046113PMC
June 2014

Tar DNA-binding protein-43 (TDP-43) regulates axon growth in vitro and in vivo.

Neurobiol Dis 2014 May 11;65:25-34. Epub 2014 Jan 11.

MRC Centre for Developmental Neurobiology, King's College, 4th Floor New Hunt's House, Guy's Campus, London SE1 1UL, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988849PMC
May 2014

Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia.

Acta Neuropathol 2014 Mar 24;127(3):377-89. Epub 2013 Dec 24.

Department of Neuroscience, Institute of Psychiatry, King's College London, PO Box 37, 16 De Crespigny Park, London, SE5 8AF, UK.

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http://dx.doi.org/10.1007/s00401-013-1235-1DOI Listing
March 2014

Unpicking neurodegeneration in a dish with human pluripotent stem cells: one cell type at a time.

Cell Cycle 2013 Aug 11;12(15):2339-40. Epub 2013 Jul 11.

Euan MacDonald Centre for Motor Neurone Disease Research; Centre for Neuroregeneration and Medical Research Council Centre for Regenerative Medicine; University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.4161/cc.25705DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841307PMC
August 2013

Is language impairment more common than executive dysfunction in amyotrophic lateral sclerosis?

J Neurol Neurosurg Psychiatry 2013 May 2;84(5):494-8. Epub 2012 Oct 2.

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

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http://dx.doi.org/10.1136/jnnp-2012-303526DOI Listing
May 2013

Association studies indicate that protein disulfide isomerase is a risk factor in amyotrophic lateral sclerosis.

Free Radic Biol Med 2013 May 18;58:81-6. Epub 2013 Jan 18.

Neurogenetics Group, Division of Brain Sciences, Faculty of Medicine, Imperial College London, London W12 0NN, UK.

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http://dx.doi.org/10.1016/j.freeradbiomed.2013.01.001DOI Listing
May 2013

pNfH is a promising biomarker for ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Mar 22;14(2):146-9. Epub 2012 Oct 22.

King's Health Partners Centre for Neurodegeneration Research, Institute of Psychiatry, Kings College London, UK.

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http://dx.doi.org/10.3109/21678421.2012.729596DOI Listing
March 2013

Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy.

Proc Natl Acad Sci U S A 2013 Mar 11;110(12):4697-702. Epub 2013 Feb 11.

Euan MacDonald Centre for Motor Neurone Disease Research, Centre for Neuroregeneration, and Medical Research Council Centre for Regenerative Medicine, University of Edinburgh, Edinburgh EH16 4UU, United Kingdom.

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http://dx.doi.org/10.1073/pnas.1300398110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3607024PMC
March 2013

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant.

Acta Neuropathol 2013 Feb 28;125(2):303-10. Epub 2012 Sep 28.

Department of Clinical Neuropathology, Academic Neuroscience Building, King's College Hospital, Denmark Hill, London SE5 9RS, UK,

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http://link.springer.com/10.1007/s00401-012-1050-0
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http://dx.doi.org/10.1007/s00401-012-1050-0DOI Listing
February 2013

Neuromuscular disease: new insights and avenues for therapy.

Lancet Neurol 2013 Jan;12(1):13-5

Department of Clinical Neuroscience, King's College London, King's Centre for Neurodegeneration Research, London SE5 8AF, UK.

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http://dx.doi.org/10.1016/S1474-4422(12)70298-3DOI Listing
January 2013