Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

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; Francesco O Logullo; Isabella Simone; Giancarlo Logroscino; Fabrizio Salvi; Ilaria Bartolomei; Giuseppe Borghero; Maria Rita Murru; Emanuela Costantino; Carla Pani; Roberta Puddu; Carla Caredda; Valeria Piras; Stefania Tranquilli; Stefania Cuccu; Daniela Corongiu; Maurizio Melis; Antonio Milia; Francesco Marrosu; Maria Giovanna Marrosu; Gianluca Floris; Antonino Cannas; Margherita Capasso; Claudia Caponnetto; Gianluigi Mancardi; Paola Origone; Paola Mandich; Francesca L Conforti; Sebastiano Cavallaro; Gabriele Mora; Kalliopi Marinou; Riccardo Sideri; Silvana Penco; Lorena Mosca; Christian Lunetta; Giuseppe Lauria Pinter; Massimo Corbo; Nilo Riva; Paola Carrera; Paolo Volanti; Jessica Mandrioli; Nicola Fini; Antonio Fasano; Lucio Tremolizzo; Alessandro Arosio; Carlo Ferrarese; Francesca Trojsi; Gioacchino Tedeschi; Maria Rosaria Monsurrò; Giovanni Piccirillo; Cinzia Femiano; Anna Ticca; Enzo Ortu; Vincenzo La Bella; Rossella Spataro; Tiziana Colletti; Mario Sabatelli; Marcella Zollino; Amelia Conte; Marco Luigetti; Serena Lattante; Marialuisa Santarelli; Antonio Petrucci; Maura Pugliatti; Angelo Pirisi; Leslie D Parish; Patrizia Occhineri; Fabio Giannini; Stefania Battistini; Claudia Ricci; Michele Benigni; Tea B Cau; Daniela Loi; Andrea Calvo; Cristina Moglia; Maura Brunetti; Marco Barberis; Gabriella Restagno; Federico Casale; Giuseppe Marrali; Giuseppe Fuda; Irene Ossola; Stefania Cammarosano; Antonio Canosa; Antonio Ilardi; Umberto Manera; Maurizio Grassano; Raffaella Tanel; Fabrizio Pisano; Letizia Mazzini; Sonia Messina; Isabella L Simone; Sandra D’Alfonso; Lucia Corrado; Luigi Ferrucci; Matthew B Harms; David B Goldstein; Neil A Shneider; Stephen Goutman; Zachary Simmons; Timothy M Miller; Siddharthan Chandran; Suvankar Pal; George Manousakis; Stanley H Appel; Ericka Simpson; Leo Wang; Robert H Baloh; Summer Gibson; Richard Bedlack; David Lacomis; Dhruv Sareen; Alexander Sherman; Lucie Bruijn; Michelle Penny; Cristiane de Araujo Martins Moreno; Sitharthan Kamalakaran; Andrew S Allen; Stanley Appel; Richard S Bedlack; Braden E Boone; Robert Brown; John P Carulli; Alessandra Chesi; Wendy K Chung; Elizabeth T Cirulli; Gregory M Cooper; Julien Couthouis; Aaron G Day-Williams; Patrick A Dion; Aaron D Gitler; Jonathan D Glass; Yujun Han; Tim Harris; Sebastian D Hayes; Angela L Jones; Jonathan Keebler; Brian J Krueger; Brittany N Lasseigne; Shawn E Levy; Yi-Fan Lu; Tom Maniatis; Diane McKenna-Yasek; Richard M Myers; Slavé Petrovski; Stefan M Pulst; Alya R Raphael; John M Ravits; Zhong Ren; Guy A Rouleau; Peter C Sapp; Katherine B Sims; John F Staropoli; Lindsay L Waite; Quanli Wang; Jack R Wimbish; Winnie W Xin; Hemali Phatnani; Justin Kwan; James R Broach; Ximena Arcila-Londono; Edward B Lee; Vivianna M Van Deerlin; Ernest Fraenkel; Lyle W Ostrow; Frank Baas; Noah Zaitlen; James D Berry; Andrea Malaspina; Pietro Fratta; Gregory A Cox; Leslie M Thompson; Steve Finkbeiner; Efthimios Dardiotis; Eran Hornstein; Daniel J MacGowan; Terry Heiman-Patterson; Molly G Hammell; Nikolaos A Patsopoulos; Joshua Dubnau; Avindra Nath; Rajeeva Lochan Musunuri; Uday Shankar Evani; Avinash Abhyankar; Michael C Zody; Julia Kaye; Steven Finkbeiner; Stacia Wyman; Alexander LeNail; Leandro Lima; Jeffrey D Rothstein; Clive N Svendsen; Jenny Van Eyk; Nicholas J Maragakis; Stephen J Kolb; Merit Cudkowicz; Emily Baxi; Stacia K Wyman; Alex LeNail; Jennifer E Van Eyk; Michael Benatar; J. Paul Taylor; Gang Wu; Evadnie Rampersaud; Joanne Wuu; Rosa Rademakers; Stephan Züchner; Rebecca Schule; Jacob McCauley; Sumaira Hussain; Anne Cooley; Marielle Wallace; Christine Clayman; Richard Barohn; Jeffrey Statland; John Ravits; Andrea Swenson; Carlayne Jackson; Jaya Trivedi; Shaida Khan; Jonathan Katz; Liberty Jenkins; Ted Burns; Kelly Gwathmey; James Caress; Corey McMillan; Lauren Elman; Erik Pioro; Jeannine Heckmann; Yuen So; David Walk; Samuel Maiser; Jinghui Zhang; Vincenzo Silani; Cinzia Gellera; Antonia Ratti; Franco Taroni; Giuseppe Lauria; Federico Verde; Isabella Fogh; Cinzia Tiloca; Giacomo P Comi; Gianni Sorarù; Cristina Cereda; Fabiola De Marchi; Stefania Corti; Mauro Ceroni; Gabriele Siciliano; Massimiliano Filosto; Maurizio Inghilleri; Silvia Peverelli; Claudia Colombrita; Barbara Poletti; Luca Maderna; Roberto Del Bo; Stella Gagliardi; Giorgia Querin; Cinzia Bertolin; Viviana Pensato; Barbara Castellotti; William Camu; Kevin Mouzat; Serge Lumbroso; Philippe Corcia; Vincent Meininger; Gérard Besson; Emmeline Lagrange; Pierre Clavelou; Nathalie Guy; Philippe Couratier; Patrick Vourch; Véronique Danel; Emilien Bernard; Gwendal Lemasson; Hannu Laaksovirta; Liisa Myllykangas; Lilja Jansson; Miko Valori; John Ealing; Hisham Hamdalla; Sara Rollinson; Stuart Pickering-Brown; Richard W Orrell; Katie C Sidle; John Hardy; Andrew B Singleton; Janel O Johnson; Sampath Arepalli; Meraida Polak; Seneshaw Asress; Safa Al-Sarraj; Andrew King; Claire Troakes; Caroline Vance; Jacqueline de Belleroche; 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; 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; Terry D Heiman-Patterson; Freya Kamel; Ludo Van Den Bosch; 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; 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; Jesús Esteban-Pérez; Alberto García-Redondo; Ammar Al-Chalabi; Ahmad Al Kheifat; Peter Andersen; Adriano Chio; Jonathan Cooper-Knock; Annelot Dekker; Vivian Drory; Alberto Garcia Redondo; Marc Gotkine; Winston Hide; Alfredo Iacoangeli; Jonathan Glass; Kevin Kenna; Matthew Kiernan; John Landers; Russell McLaughlin; Jonathan Mill; Miguel Mitne Neto; Mattieu Moisse; Jesus Mora Pardina; Karen Morrison; Stephen Newhouse; Susana Pinto; Sara Pulit; Wim Robberecht; Pamela Shaw; Chris Shaw; William Sproviero; Gijs Tazelaar; Philip van Damme; Leonard van den Berg; Rick van der Spek; Kristel van Eijk; Michael van Es; Joke van Vugt; Jan Veldink; Mayana Zatz; Denis C Bauer; Natalie A Twine; Ekaterina Rogaeva; Lorne Zinman; Johnathan Cooper-Knock; Alexis Brice; Stephen A Goutman; Eva L Feldman; Summer B Gibson; Philip Van Damme; Albert C Ludolph; Peter M Andersen; Jochen H Weishaupt; John Q Trojanowski; Robert H Brown; Leonard H van den Berg; Jan H Veldink; David J Stone; Pentti Tienari; Adriano Chiò; Christopher E Shaw; Bryan J Traynor; John E Landers

doi:10.1016/j.neuron.2018.02.027

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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Journal article

Open access

Peer reviewed

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

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, …

Neuron (Cambridge, Mass.), Vol.97(6), pp.1268-1283.e6

2018-03-21

DOI: https://doi.org/10.1016/j.neuron.2018.02.027

PMCID: PMC5867896

PMID: 29566793

Abstract

WGS

GWAS

WES

KIF5A

ALS

axonal transport

cargo

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS. •Loss-of-function mutations in KIF5A are a cause of amyotrophic lateral sclerosis•ALS-associated KIF5A mutations are distinct from HSP and CMT mutations in KIF5A•Identification of KIF5A highlights the role of cytoskeleton in ALS pathogenesis Using a large-scale genome-wide association study and exome sequencing, we identified KIF5A as a novel gene associated with ALS. Our data broaden the phenotype resulting from mutations in KIF5A and highlight the importance of cytoskeletal defects in the pathogenesis of ALS.

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Collaboration types: Industry collaboration; Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.52 Neurodegenerative Diseases; 1.52.765 Amyotrophic Lateral Sclerosis
Web Of Science research areas: Neurosciences
ESI research areas: Neuroscience & Behavior

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Title: Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
Creators: Aude Nicolas - Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Kevin P Kenna - Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
Alan E Renton - Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Nicola Ticozzi - Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
Faraz Faghri - Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Ruth Chia - Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Janice A Dominov - Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
Brendan J Kenna - Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
Mike A Nalls - Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Pamela Keagle - Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
Alberto M Rivera - Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Wouter van Rheenen - Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands
Natalie A Murphy - Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Joke J.F.A van Vugt - Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands
Joshua T Geiger - Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA
Rick A Van der Spek - Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands
Hannah A Pliner - Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Shankaracharya - Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
Bradley N Smith - Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London SE5 9RS, UK
Giuseppe Marangi - Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Simon D Topp - Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London SE5 9RS, UK
Yevgeniya Abramzon - Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Athina Soragia Gkazi - Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London SE5 9RS, UK
John D Eicher - Genetics and Pharmacogenomics, MRL, Merck & Co., Inc., Boston, MA 02115, USA
Aoife Kenna - Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
Francesco O Logullo
Isabella Simone
Giancarlo Logroscino
Fabrizio Salvi
Ilaria Bartolomei
Giuseppe Borghero
Maria Rita Murru
Emanuela Costantino
Carla Pani
Roberta Puddu
Carla Caredda
Valeria Piras
Stefania Tranquilli
Stefania Cuccu
Daniela Corongiu
Maurizio Melis
Antonio Milia
Francesco Marrosu
Maria Giovanna Marrosu
Gianluca Floris
Antonino Cannas
Margherita Capasso
Claudia Caponnetto
Gianluigi Mancardi
Paola Origone
Paola Mandich
Francesca L Conforti
Sebastiano Cavallaro
Gabriele Mora
Kalliopi Marinou
Riccardo Sideri
Silvana Penco
Lorena Mosca
Christian Lunetta
Giuseppe Lauria Pinter
Massimo Corbo
Nilo Riva
Paola Carrera
Paolo Volanti
Jessica Mandrioli
Nicola Fini
Antonio Fasano
Lucio Tremolizzo
Alessandro Arosio
Carlo Ferrarese
Francesca Trojsi
Gioacchino Tedeschi
Maria Rosaria Monsurrò
Giovanni Piccirillo
Cinzia Femiano
Anna Ticca
Enzo Ortu
Vincenzo La Bella
Rossella Spataro
Tiziana Colletti
Mario Sabatelli
Marcella Zollino
Amelia Conte
Marco Luigetti
Serena Lattante
Giuseppe Marangi
Marialuisa Santarelli
Antonio Petrucci
Maura Pugliatti
Angelo Pirisi
Leslie D Parish
Patrizia Occhineri
Fabio Giannini
Stefania Battistini
Claudia Ricci
Michele Benigni
Tea B Cau
Daniela Loi
Andrea Calvo
Cristina Moglia
Maura Brunetti
Marco Barberis
Gabriella Restagno
Federico Casale
Giuseppe Marrali
Giuseppe Fuda
Irene Ossola
Stefania Cammarosano
Antonio Canosa
Antonio Ilardi
Umberto Manera
Maurizio Grassano
Raffaella Tanel
Fabrizio Pisano
Gabriele Mora - ALS Center, Salvatore Maugeri Foundation, IRCCS, Mistretta, Messina, Italy
Andrea Calvo - “Rita Levi Montalcini” Department of Neuroscience, University of Turin, Turin, Italy
Letizia Mazzini - “Maggiore della Carità” University Hospital, Novara, Italy
Nilo Riva - Department of Neurology, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy
Jessica Mandrioli - Department of Neuroscience, St. Agostino Estense Hospital, Azienda Ospedaliero Universitaria di Modena, Modena, Italy
Claudia Caponnetto - Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation, Maternal and Child Health, Ospedale Policlinico San Martino, Genoa, Italy
Stefania Battistini - Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy
Paolo Volanti - ALS Center, Salvatore Maugeri Foundation, IRCCS, Mistretta, Messina, Italy
Vincenzo La Bella - ALS Clinical Research Center, University of Palermo, Palermo, Italy
Francesca L Conforti - Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
Giuseppe Borghero - Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy
Sonia Messina - Department of Clinical and Experimental Medicine, University of Messina and Nemo Sud Clinical Center for Neuromuscular Diseases, Aurora Foundation, Messina, Italy
Isabella L Simone - Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy
Francesca Trojsi - Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, University of Campania “Luigi Vanvitelli,” Naples, Italy
Fabrizio Salvi - “Il Bene” Center for Immunological and Rare Neurological Diseases at Bellaria Hospital, IRCCS, Istituto delle Scienze Neurologiche, Bologna, Italy
Francesco O Logullo - Neurological Clinic, Marche Polytechnic University, Ancona, Italy
Sandra D’Alfonso - Department of Health Sciences, University of Eastern Piedmont, Novara, Italy
Lucia Corrado - Department of Health Sciences, University of Eastern Piedmont, Novara, Italy
Margherita Capasso - Department of Neurology, University of Chieti, Chieti, Italy
Luigi Ferrucci - Longitudinal Studies Section, Clinical Research Branch, National Institute on Aging, NIH, Baltimore, MD 21224, USA
Matthew B Harms
David B Goldstein
Neil A Shneider
Stephen Goutman
Zachary Simmons
Timothy M Miller
Siddharthan Chandran
Suvankar Pal
George Manousakis
Stanley H Appel
Ericka Simpson
Leo Wang
Robert H Baloh
Summer Gibson
Richard Bedlack
David Lacomis
Dhruv Sareen
Alexander Sherman
Lucie Bruijn
Michelle Penny
Cristiane de Araujo Martins Moreno - Department of Neurology, Columbia University, New York, NY 10032, USA
Sitharthan Kamalakaran - Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA
David B Goldstein - Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA
Andrew S Allen
Stanley Appel
Richard S Bedlack
Braden E Boone
Robert Brown
John P Carulli
Alessandra Chesi
Wendy K Chung
Elizabeth T Cirulli
Gregory M Cooper
Julien Couthouis
Aaron G Day-Williams
Patrick A Dion
Aaron D Gitler
Jonathan D Glass
Yujun Han
Tim Harris
Sebastian D Hayes
Angela L Jones
Jonathan Keebler
Brian J Krueger
Brittany N Lasseigne
Shawn E Levy
Yi-Fan Lu
Tom Maniatis
Diane McKenna-Yasek
Richard M Myers
Slavé Petrovski
Stefan M Pulst
Alya R Raphael
John M Ravits
Zhong Ren
Guy A Rouleau
Peter C Sapp
Katherine B Sims
John F Staropoli
Lindsay L Waite
Quanli Wang
Jack R Wimbish
Winnie W Xin
Aaron D Gitler - Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
Tim Harris - Bioverativ, 225 2nd Avenue, Waltham, MA 02145, USA
Richard M Myers - HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA
Hemali Phatnani
Justin Kwan
James R Broach
Ximena Arcila-Londono
Edward B Lee
Vivianna M Van Deerlin
Ernest Fraenkel
Lyle W Ostrow
Frank Baas
Noah Zaitlen
James D Berry
Andrea Malaspina
Pietro Fratta
Gregory A Cox
Leslie M Thompson
Steve Finkbeiner
Efthimios Dardiotis
Eran Hornstein
Daniel J MacGowan
Terry Heiman-Patterson
Molly G Hammell
Nikolaos A Patsopoulos
Joshua Dubnau
Avindra Nath
Hemali Phatnani - Center for Genomics of Neurodegenerative Diseases (CGND), New York Genome Center, New York, NY, USA
Rajeeva Lochan Musunuri - Computational Biology, New York Genome Center, New York, NY, USA
Uday Shankar Evani - Computational Biology, New York Genome Center, New York, NY, USA
Avinash Abhyankar - Computational Biology, New York Genome Center, New York, NY, USA
Michael C Zody - Computational Biology, New York Genome Center, New York, NY, USA
Julia Kaye
Steven Finkbeiner
Stacia Wyman
Alexander LeNail
Leandro Lima
Jeffrey D Rothstein
Clive N Svendsen
Jenny Van Eyk
Nicholas J Maragakis
Stephen J Kolb
Merit Cudkowicz
Emily Baxi
Julia Kaye - Gladstone Institute of Neurological Disease, San Francisco, CA, USA
Steven Finkbeiner - Gladstone Institute of Neurological Disease, San Francisco, CA, USA
Stacia K Wyman - Gladstone Institute of Neurological Disease, San Francisco, CA, USA
Alex LeNail - Department of Biological Engineering, Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, MA 02139, USA
Leandro Lima - Gladstone Institute of Neurological Disease, San Francisco, CA, USA
Ernest Fraenkel - Department of Biological Engineering, Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, MA 02139, USA
Clive N Svendsen - Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA
Leslie M Thompson - Department of Neurobiology and Behavior, Institute of Memory Impairment and Neurological Disorders, University of California, Irvine, Irvine, CA 92697, USA
Jennifer E Van Eyk - The Heart Institute and Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA
James D Berry - Harvard Medical School, Department of Neurology, Massachusetts General Hospital (MGH), Boston, MA, USA
Timothy M Miller - Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA
Stephen J Kolb - Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA
Merit Cudkowicz - Harvard Medical School, Department of Neurology, Massachusetts General Hospital (MGH), Boston, MA, USA
Emily Baxi - Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA
Michael Benatar
J. Paul Taylor
Gang Wu
Evadnie Rampersaud
Joanne Wuu
Rosa Rademakers
Stephan Züchner
Rebecca Schule
Jacob McCauley
Sumaira Hussain
Anne Cooley
Marielle Wallace
Christine Clayman
Richard Barohn
Jeffrey Statland
John Ravits
Andrea Swenson
Carlayne Jackson
Jaya Trivedi
Shaida Khan
Jonathan Katz
Liberty Jenkins
Ted Burns
Kelly Gwathmey
James Caress
Corey McMillan
Lauren Elman
Erik Pioro
Jeannine Heckmann
Yuen So
David Walk
Samuel Maiser
Jinghui Zhang
Michael Benatar - Department of Neurology, University of Miami, Miami, FL 33136, USA
J. Paul Taylor - Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA
Evadnie Rampersaud - Department of Computational Biology, St. Jude Children’s Research Hospital, Memphis, TN 38105, USA
Gang Wu - Department of Computational Biology, St. Jude Children’s Research Hospital, Memphis, TN 38105, USA
Joanne Wuu - Department of Neurology, University of Miami, Miami, FL 33136, USA
Vincenzo Silani
Nicola Ticozzi
Cinzia Gellera
Antonia Ratti
Franco Taroni
Giuseppe Lauria
Federico Verde
Isabella Fogh
Cinzia Tiloca
Giacomo P Comi
Gianni Sorarù
Cristina Cereda
Sandra D’Alfonso
Lucia Corrado
Fabiola De Marchi
Stefania Corti
Mauro Ceroni
Letizia Mazzini
Gabriele Siciliano
Massimiliano Filosto
Maurizio Inghilleri
Silvia Peverelli
Claudia Colombrita
Barbara Poletti
Luca Maderna
Roberto Del Bo
Stella Gagliardi
Giorgia Querin
Cinzia Bertolin
Viviana Pensato
Barbara Castellotti
Giuseppe Lauria - 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico “Carlo Besta,” and Department of Biomedical and Clinical Sciences “Luigi Sacco,” University of Milan, Milan, Italy
Federico Verde - Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
Isabella Fogh - Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
Cinzia Tiloca - Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
Giacomo P Comi - Neurology Unit, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
Gianni Sorarù - Department of Neurosciences, University of Padova, Padova, Italy
Cristina Cereda - Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy
William Camu
Kevin Mouzat
Serge Lumbroso
Philippe Corcia
Vincent Meininger
Gérard Besson
Emmeline Lagrange
Pierre Clavelou
Nathalie Guy
Philippe Couratier
Patrick Vourch
Véronique Danel
Emilien Bernard
Gwendal Lemasson
Philippe Corcia - ALS Center, CHU Bretonneau, Tours University, Tours, France
Hannu Laaksovirta - Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland
Liisa Myllykangas - Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Lilja Jansson - Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland
Miko Valori - Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland
John Ealing - Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK
Hisham Hamdalla - Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK
Sara Rollinson - Faculty of Human and Medical Sciences, University of Manchester, Manchester M13 9PT, UK
Stuart Pickering-Brown - Faculty of Human and Medical Sciences, University of Manchester, Manchester M13 9PT, UK
Richard W Orrell - Department of Clinical Neuroscience, Institute of Neurology, University College London, London NW3 2PG, UK
Katie C Sidle - Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square House, London WC1N 3BG, UK
Andrea Malaspina - Centre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, NorthEast London and Essex Regional Motor Neuron Disease Care Centre, London E1 2AT, UK
John Hardy - Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square House, London WC1N 3BG, UK
Andrew B Singleton - Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Janel O Johnson - Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Sampath Arepalli - Genomics Technology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Peter C Sapp - Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
Diane McKenna-Yasek - Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
Meraida Polak - Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA
Seneshaw Asress - Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA
Safa Al-Sarraj - Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London SE5 9RS, UK
Andrew King - Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London SE5 9RS, UK
Claire Troakes - Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London SE5 9RS, UK
Caroline Vance - Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London SE5 9RS, UK
Jacqueline de Belleroche - Division of Brain Sciences, Department of Medicine, Imperial College London, London W120NN, UK
Frank Baas - Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands
Anneloor L.M.A ten Asbroek - Department of Neurogenetics and Neurology, Academic Medical Centre, Amsterdam, the Netherlands
José Luis Muñoz-Blanco - ALS-Neuromuscular Unit, Hospital General Universitario Gregorio Marañón, IISGM, Madrid, Spain
Dena G Hernandez - Genomics Technology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Jinhui Ding - Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
J. Raphael Gibbs - Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
Sonja W Scholz - Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA
Mary Kay Floeter - Motor Neuron Disorders Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA
Roy H Campbell - Department of Computer Science, University of Illinois at Urbana-Champaign, Urbana, IL, USA
Francesco Landi - Center for Geriatric Medicine, Department of Geriatrics, Neurosciences and Orthopedics, Catholic University of Sacred Heart, Rome 00168, Italy
Robert Bowser - Division of Neurology, Barrow Neurological Institute, Phoenix, AZ, USA
Stefan M Pulst - Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA
John M Ravits - Department of Neuroscience, University of California, San Diego, La Jolla, CA, USA
Daniel J.L MacGowan - Mount Sinai Beth Israel Hospital, Mount Sinai School of Medicine, New York, NY, USA
Janine Kirby - Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK
Erik P Pioro - Department of Neurology, Neuromuscular Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA
Roger Pamphlett - Discipline of Pathology, Brain and Mind Centre, The University of Sydney, 94 Mallett Street, Camperdown, NSW 2050, Australia
James Broach - Department of Biochemistry, Penn State College of Medicine, Hershey, PA, USA
Glenn Gerhard - Department of Pathology, Penn State College of Medicine, Hershey, PA, USA
Travis L Dunckley - Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA
Christopher B Brady - Research and Development Service, Veterans Affairs Boston Healthcare System, Boston, MA, USA
Neil W Kowall - Neurology Service, VA Boston Healthcare System and Boston University Alzheimer’s Disease Center, Boston, MA 02130, USA
Juan C Troncoso - Departments of Pathology and Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Isabelle Le Ber - Sorbonne Universités, UPMC Univ Paris 06, Inserm, CNRS, Institut du Cerveau et la Moelle (ICM), Assistance Publique Hôpitaux de Paris (AP-HP) – Hôpital Pitié-Salpêtrière, Paris, France
Kevin Mouzat - INM, University Montpellier, Montpellier, France
Serge Lumbroso - INM, University Montpellier, Montpellier, France
Terry D Heiman-Patterson - Department of Neurology, Drexel University College of Medicine, Philadelphia, PA, USA
Freya Kamel - Epidemiology Branch, National Institute of Environmental Health Sciences, Durham, NC 27709, USA
Ludo Van Den Bosch - KU Leuven – University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium
Robert H Baloh - Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA
Tim M Strom - Institute of Human Genetics, Technische Universität München, Munich, Germany
Thomas Meitinger - Institute of Human Genetics, Technische Universität München, Munich, Germany
Aleksey Shatunov - Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London SE5 9RS, UK
Kristel R Van Eijk - Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands
Mamede de Carvalho - Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
Maarten Kooyman - SURFsara, Amsterdam, the Netherlands
Bas Middelkoop - Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands
Matthieu Moisse - KU Leuven – University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium
Russell L McLaughlin - Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland
Michael A Van Es - Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands
Markus Weber - Neuromuscular Diseases Center/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland
Kevin B Boylan - Department of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA
Marka Van Blitterswijk - Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
Rosa Rademakers - Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
Karen E Morrison - Faculty of Medicine, University of Southampton, Southampton, UK
A. Nazli Basak - Suna and Inan Kırac Foundation, Neurodegeneration Research Laboratory, Bogazici University, Istanbul, Turkey
Jesús S Mora - ALS Unit/Neurology, Hospital San Rafael, Madrid, Spain
Vivian E Drory - Department of Neurology, Tel-Aviv Sourasky Medical Centre, Tel-Aviv, Israel
Pamela J Shaw - Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK
Martin R Turner - Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK
Kevin Talbot - Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK
Orla Hardiman - Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland
Kelly L Williams - Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia
Jennifer A Fifita - Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia
Garth A Nicholson - Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia
Ian P Blair - Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia
Guy A Rouleau - Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada
Jesús Esteban-Pérez - Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain
Alberto García-Redondo - Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain
Ammar Al-Chalabi - Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London SE5 9RS, UK
Ahmad Al Kheifat
Ammar Al-Chalabi
Peter Andersen
A. Nazli Basak
Ian P Blair
Adriano Chio
Jonathan Cooper-Knock
Mamede de Carvalho
Annelot Dekker
Vivian Drory
Alberto Garcia Redondo
Marc Gotkine
Orla Hardiman
Winston Hide
Alfredo Iacoangeli
Jonathan Glass
Kevin Kenna
Matthew Kiernan
Maarten Kooyman
John Landers
Russell McLaughlin
Bas Middelkoop
Jonathan Mill
Miguel Mitne Neto
Mattieu Moisse
Jesus Mora Pardina
Karen Morrison
Stephen Newhouse
Susana Pinto
Sara Pulit
Wim Robberecht
Aleksey Shatunov
Pamela Shaw
Chris Shaw
William Sproviero
Gijs Tazelaar
Philip van Damme
Leonard van den Berg
Rick van der Spek
Kristel van Eijk
Michael van Es
Wouter van Rheenen
Joke van Vugt
Jan Veldink
Markus Weber
Kelly L Williams
Mayana Zatz
Denis C Bauer
Natalie A Twine
Ekaterina Rogaeva - Tanz Centre for Research of Neurodegenerative Diseases, Division of Neurology, Department of Medicine, University of Toronto, Toronto, ON M5S 3H2, Canada
Lorne Zinman - Division of Neurology, Department of Internal Medicine, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON M4N 3M5, Canada
Lyle W Ostrow - Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA
Nicholas J Maragakis - Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA
Jeffrey D Rothstein - Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA
Zachary Simmons - Department of Neurology, Penn State Hershey Medical Center, Hershey, PA, USA
Johnathan Cooper-Knock - Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK
Alexis Brice - Sorbonne Universités, UPMC Univ Paris 06, Inserm, CNRS, Institut du Cerveau et la Moelle (ICM), Assistance Publique Hôpitaux de Paris (AP-HP) – Hôpital Pitié-Salpêtrière, Paris, France
Stephen A Goutman - Department of Neurology, University of Michigan, Ann Arbor, MI, USA
Eva L Feldman - Department of Neurology, University of Michigan, Ann Arbor, MI, USA
Summer B Gibson - Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA
Franco Taroni - Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico “Carlo Besta,” Milan 20133, Italy
Antonia Ratti - Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
Cinzia Gellera - Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico “Carlo Besta,” Milan 20133, Italy
Philip Van Damme - KU Leuven – University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium
Wim Robberecht - KU Leuven – University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium
Pietro Fratta - Sobell Department of Motor Neuroscience and Movement Disorders, University College London, Institute of Neurology, London, UK
Mario Sabatelli - Centro Clinico NeMO, Institute of Neurology, Catholic University, Largo F. Vito 1, 00168 Rome, Italy
Christian Lunetta - NEuroMuscular Omnicenter (NEMO), Serena Onlus Foundation, Milan, Italy
Albert C Ludolph - Neurology Department, Ulm University, Albert-Einstein-Allee 11, 89081 Ulm, Germany
Peter M Andersen - Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå SE-90185, Sweden
Jochen H Weishaupt - Neurology Department, Ulm University, Albert-Einstein-Allee 11, 89081 Ulm, Germany
William Camu - ALS Center, CHU Gui de Chauliac, University of Montpellier, Montpellier, France
John Q Trojanowski - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA
Vivianna M Van Deerlin - Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA
Robert H Brown - Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
Leonard H van den Berg - Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands
Jan H Veldink - Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands
Matthew B Harms - Department of Neurology, Columbia University, New York, NY 10032, USA
Jonathan D Glass - Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA
David J Stone - Genetics and Pharmacogenomics, MRL, Merck & Co., Inc., West Point, PA 19486, USA
Pentti Tienari - Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland
Vincenzo Silani - Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
Adriano Chiò - “Rita Levi Montalcini” Department of Neuroscience, University of Turin, Turin, Italy
Christopher E Shaw - Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King’s College London, London SE5 9RS, UK
Bryan J Traynor - Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA
John E Landers - Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
Publication Details: Neuron (Cambridge, Mass.), Vol.97(6), pp.1268-1283.e6
Publisher: Elsevier Inc
Academic Unit: Leadership Department; Miller School of Medicine; John P. Hussman Institute for Human Genomics; UMMG Department of Neurology; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation); UMMG Dept of Neurology - Neuromuscular Disorders Div
Language: English
Resource Type: Journal article
PMID: 29566793
PMCID: PMC5867896
Record Identifier: 991031576697502976