V
Vivianna M. Van Deerlin
Researcher at University of Pennsylvania
Publications - 288
Citations - 31517
Vivianna M. Van Deerlin is an academic researcher from University of Pennsylvania. The author has contributed to research in topics: Frontotemporal lobar degeneration & Frontotemporal dementia. The author has an hindex of 85, co-authored 262 publications receiving 26035 citations. Previous affiliations of Vivianna M. Van Deerlin include National Institutes of Health & Harvard University.
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Journal ArticleDOI
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
Adam C. Naj,Gyungah Jun,Gary W. Beecham,Li-San Wang,Badri N. Vardarajan,Jacqueline L. Buros,Paul Gallins,Joseph D. Buxbaum,Gail P. Jarvik,Paul K. Crane,Eric B. Larson,Thomas D. Bird,Bradley F. Boeve,Neill R. Graff-Radford,Philip L. De Jager,Philip L. De Jager,Denis A. Evans,Julie A. Schneider,Minerva M. Carrasquillo,Nilufer Ertekin-Taner,Steven G. Younkin,Carlos Cruchaga,John S. K. Kauwe,Petra Nowotny,Patricia L. Kramer,John Hardy,Matthew J. Huentelman,Amanda J. Myers,M. Michael Barmada,F. Yesim Demirci,Clinton T. Baldwin,Robert C. Green,Ekaterina Rogaeva,Peter St George-Hyslop,Peter St George-Hyslop,Steven E. Arnold,Robert W Barber,Thomas H. Beach,Eileen H. Bigio,James D. Bowen,Adam L. Boxer,James R. Burke,Nigel J. Cairns,Christopher S. Carlson,Regina M. Carney,Steven L. Carroll,Helena C. Chui,David G. Clark,Jason J. Corneveaux,Carl W. Cotman,Jeffrey L. Cummings,Charles DeCarli,Steven T. DeKosky,Ramon Diaz-Arrastia,Malcolm B. Dick,Dennis W. Dickson,William G. Ellis,Kelley Faber,Kenneth B. Fallon,Martin R. Farlow,Steven H. Ferris,Matthew P. Frosch,Douglas Galasko,Mary Ganguli,Marla Gearing,Daniel H. Geschwind,Bernardino Ghetti,John R. Gilbert,Sid Gilman,Bruno Giordani,Jonathan D. Glass,John H. Growdon,Ronald L. Hamilton,Lindy E. Harrell,Elizabeth Head,Lawrence S. Honig,Christine M. Hulette,Bradley T. Hyman,Gregory A. Jicha,Lee-Way Jin,Nancy Johnson,Jason Karlawish,Anna Karydas,Jeffrey Kaye,Ronald C. Kim,Edward H. Koo,Neil W. Kowall,James J. Lah,Allan I. Levey,Andrew P. Lieberman,Oscar L. Lopez,Wendy J. Mack,Daniel C. Marson,Frank Martiniuk,Deborah C. Mash,Eliezer Masliah,Wayne C. McCormick,Susan M. McCurry,Andrew McDavid,Ann C. McKee,W Marsel Mesulam,Bruce L. Miller,Carol A. Miller,Joshua W. Miller,Joseph E. Parisi,Daniel P. Perl,Elaine R. Peskind,Ronald C. Petersen,Wayne W. Poon,Joseph F. Quinn,Ruchita Rajbhandary,Murray A. Raskind,Barry Reisberg,John M. Ringman,Erik D. Roberson,Roger N. Rosenberg,Mary Sano,Lon S. Schneider,William P. Seeley,Michael L. Shelanski,Michael A. Slifer,Charles D. Smith,Joshua A. Sonnen,Salvatore Spina,Robert S. Stern,Rudolph E. Tanzi,John Q. Trojanowski,Juan C. Troncoso,Vivianna M. Van Deerlin,Harry V. Vinters,Jean Paul Vonsattel,Sandra Weintraub,Kathleen A. Welsh-Bohmer,Jennifer Williamson,Randall L. Woltjer,Laura B. Cantwell,Beth A. Dombroski,Duane Beekly,Kathryn L. Lunetta,Eden R. Martin,M. Ilyas Kamboh,Andrew J. Saykin,Eric M. Reiman,David A. Bennett,John C. Morris,Thomas J. Montine,Alison Goate,Deborah Blacker,Debby W. Tsuang,Hakon Hakonarson,Walter A. Kukull,Tatiana Foroud,Jonathan L. Haines,Richard Mayeux,Margaret A. Pericak-Vance,Lindsay A. Farrer,Gerard D. Schellenberg +156 more
TL;DR: The Alzheimer Disease Genetics Consortium performed a genome-wide association study of late-onset Alzheimer disease using a three-stage design consisting of a discovery stage (stage 1), two replication stages (stages 2 and 3), and both joint analysis and meta-analysis approaches were used.
Journal ArticleDOI
Analysis of shared heritability in common disorders of the brain
Verneri Anttila,Verneri Anttila,Brendan Bulik-Sullivan,Brendan Bulik-Sullivan,Hilary K. Finucane,Raymond K. Walters,Raymond K. Walters,Jose Bras,Laramie E. Duncan,Valentina Escott-Price,Guido J. Falcone,Padhraig Gormley,Rainer Malik,Nikolaos A. Patsopoulos,Nikolaos A. Patsopoulos,Stephan Ripke,Zhi Wei,Dongmei Yu,Dongmei Yu,Phil Lee,Phil Lee,Patrick Turley,Patrick Turley,Benjamin Grenier-Boley,Benjamin Grenier-Boley,Benjamin Grenier-Boley,Vincent Chouraki,Yoichiro Kamatani,Claudine Berr,Claudine Berr,Luc Letenneur,Luc Letenneur,Didier Hannequin,Philippe Amouyel,Anne Boland,Jean-François Deleuze,Emmanuelle Duron,Badri N. Vardarajan,Christiane Reitz,Alison Goate,Matthew J. Huentelman,M. Ilyas Kamboh,Eric B. Larson,Eric B. Larson,Ekaterina Rogaeva,Peter St George-Hyslop,Peter St George-Hyslop,Hakon Hakonarson,Walter A. Kukull,Lindsay A. Farrer,Lisa L. Barnes,Thomas G. Beach,F. Yesim Demirci,Elizabeth Head,Christine M. Hulette,Gregory A. Jicha,John S. K. Kauwe,Jeffrey Kaye,James B. Leverenz,Allan I. Levey,Andrew P. Lieberman,Vernon S. Pankratz,Wayne W. Poon,Joseph F. Quinn,Joseph F. Quinn,Andrew J. Saykin,Lon S. Schneider,Amanda Smith,Joshua A. Sonnen,Joshua A. Sonnen,Robert S. Stern,Vivianna M. Van Deerlin,Linda J. Van Eldik,Denise Harold,Giancarlo Russo,David C. Rubinsztein,Anthony Bayer,Magda Tsolaki,Petra Proitsi,Nick C. Fox,Nick C. Fox,Harald Hampel,Michael John Owen,Simon Mead,Peter Passmore,Kevin Morgan,Markus M. Noethen,Martin N. Rossor,Michelle K. Lupton,Michelle K. Lupton,Per Hoffmann,Johannes Kornhuber,Brian A. Lawlor,Andrew McQuillin,Ammar Al-Chalabi,Ammar Al-Chalabi,Joshua C. Bis,Agustín Ruiz,Mercè Boada,Sudha Seshadri,Sudha Seshadri,Alexa S. Beiser,Kenneth Rice,Sven J. van der Lee,Philip L. De Jager,Daniel H. Geschwind,Matthias Riemenschneider,Steffi G. Riedel-Heller,Jerome I. Rotter,Gerhard Ransmayr,Bradley T. Hyman,Carlos Cruchaga,Montserrat Alegret,Bendik S. Winsvold,Priit Palta,Priit Palta,K.-H. Farh,K.-H. Farh,E. Cuenca-Leon,E. Cuenca-Leon,Nicholas A. Furlotte,Tobias Kurth,Lannie Ligthart,Gisela M. Terwindt,Tobias Freilinger,Tobias Freilinger,Caroline Ran,Scott D. Gordon,Guntram Borck,Hieab H.H. Adams,Terho Lehtimäki,Juho Wedenoja,Julie E. Buring,Markus Schuerks,Maria Gudlaug Hrafnsdottir,Jouke-Jan Hottenga,Brenda W.J.H. Penninx,Ville Artto,Mari A. Kaunisto,Salli Vepsäläinen,Nicholas G. Martin,Grant W. Montgomery,Grant W. Montgomery,Mitja I. Kurki,Eija Hämäläinen,Hailiang Huang,Hailiang Huang,Jie Huang,Cynthia Sandor,Caleb Webber,Caleb Webber,Bertram Müller-Myhsok,Bertram Müller-Myhsok,Stefan Schreiber,Veikko Salomaa,Elizabeth Loehrer,Hartmut Goebel,Alfons Macaya,Patricia Pozo-Rosich,Thomas Hansen,Thomas Werge,Thomas Werge,Jaakko Kaprio,Andres Metspalu,Christian Kubisch,Michel D. Ferrari,Andrea Carmine Belin,Arn M. J. M. van den Maagdenberg,John-Anker Zwart,Dorret I. Boomsma,Nicholas Eriksson,Jes Olesen,Daniel I. Chasman,Daniel I. Chasman,Dale R. Nyholt,Andreja Avbersek,Larry Baum,Samuel F. Berkovic,Jonathan P. Bradfield,Russell J. Buono,Russell J. Buono,Russell J. Buono,Claudia B. Catarino,Claudia B. Catarino,Patrick Cossette,Peter De Jonghe,Chantal Depondt,Dennis J. Dlugos,Dennis J. Dlugos,Thomas N. Ferraro,Thomas N. Ferraro,Jacqueline A. French,Helle Hjalgrim,Jennifer Jamnadas-Khoda,Jennifer Jamnadas-Khoda,Reetta Kälviäinen,Wolfram S. Kunz,Holger Lerche,Costin Leu,Dick Lindhout,Dick Lindhout,Warren D. Lo,Warren D. Lo,Daniel H. Lowenstein,Mark McCormack,Mark McCormack,Rikke S. Møller,Anne M. Molloy,Ping-Wing Ng,Karen Oliver,Michael Privitera,Rodney A. Radtke,Ann-Kathrin Ruppert,Thomas Sander,Steven C. Schachter,Steven C. Schachter,Christoph J. Schankin,Christoph J. Schankin,Ingrid E. Scheffer,Ingrid E. Scheffer,Susanne Schoch,Sanjay M. Sisodiya,Philip E. M. Smith,Michael R. Sperling,Pasquale Striano,Rainer Surges,Rainer Surges,G. Neil Thomas,Frank Visscher,Christopher D. Whelan,Federico Zara,Erin L. Heinzen,Anthony G Marson,Anthony G Marson,Felicitas Becker,H. Stroink,Fritz Zimprich,Thomas Gasser,Thomas Gasser,Raphael Gibbs,Peter Heutink,Peter Heutink,Maria Martinez,Maria Martinez,Huw R. Morris,Manu Sharma,Mina Ryten,Kin Y. Mok,Kin Y. Mok,Sara L. Pulit,Sara L. Pulit,Sara L. Pulit,Steve Bevan,Elizabeth G. Holliday,John Attia,Thomas W.K. Battey,Giorgio B. Boncoraglio,Vincent Thijs,Wei-Min Chen,Braxton D. Mitchell,Braxton D. Mitchell,Peter M. Rothwell,Pankaj Sharma,Pankaj Sharma,Cathie Sudlow,Astrid M. Vicente,Hugh S. Markus,Christina Kourkoulis,Christina Kourkoulis,Joana Pera,Miriam R. Raffeld,Scott Silliman,Vesna Boraska Perica,Laura M. Thornton,Laura M. Huckins,N. William Rayner,N. William Rayner,Cathryn M. Lewis,Mònica Gratacòs,Filip Rybakowski,Anna Keski-Rahkonen,Anu Raevuori,Anu Raevuori,James I. Hudson,Ted Reichborn-Kjennerud,Ted Reichborn-Kjennerud,Palmiero Monteleone,Andreas Karwautz,Katrin Männik,Katrin Männik,Jessica H. Baker,Julie K. O'Toole,Sara E. Trace,Oliver S. P. Davis,Sietske G. Helder,Stefan Ehrlich,Beate Herpertz-Dahlmann,Unna N. Danner,Annemarie A. van Elburg,Maurizio Clementi,Monica Forzan,Elisa Docampo,Jolanta Lissowska,Joanna Hauser,Alfonso Tortorella,Mario Maj,Fragiskos Gonidakis,Konstantinos Tziouvas,Hana Papezova,Zeynep Yilmaz,Gudrun Wagner,Sarah Cohen-Woods,Stefan Herms,Antonio Julià,Raquel Rabionet,Danielle M. Dick,Samuli Ripatti,Samuli Ripatti,Ole A. Andreassen,Ole A. Andreassen,Thomas Espeseth,Thomas Espeseth,Astri J. Lundervold,Vidar M. Steen,Vidar M. Steen,Dalila Pinto,Stephen W. Scherer,Stephen W. Scherer,Harald N. Aschauer,Alexandra Schosser,Lars Alfredsson,Leonid Padyukov,Katherine A. Halmi,James E. Mitchell,Michael Strober,Andrew W. Bergen,Walter H. Kaye,Jin P. Szatkiewicz,Bru Cormand,Josep Antoni Ramos-Quiroga,Cristina Sánchez-Mora,Cristina Sánchez-Mora,Marta Ribasés,Marta Ribasés,Miguel Casas,Amaia Hervás,Maria Arranz,Jan Haavik,Jan Haavik,Tetyana Zayats,Tetyana Zayats,Stefan Johansson,Stefan Johansson,Nigel Williams,Astrid Dempfle,Aribert Rothenberger,Jonna Kuntsi,Robert D. Oades,Tobias Banaschewski,Barbara Franke,Jan K. Buitelaar,Alejandro Arias Vasquez,Alysa E. Doyle,Andreas Reif,Klaus-Peter Lesch,Klaus-Peter Lesch,Klaus-Peter Lesch,Christine M. Freitag,Olga Rivero,Haukur Palmason,Marcel Romanos,Kate Langley,Marcella Rietschel,Stephanie H. Witt,Soeren Dalsgaard,Soeren Dalsgaard,Anders D. Børglum,Irwin D. Waldman,Beth Wilmot,Nikolas Molly,Claiton H.D. Bau,Jennifer Crosbie,Russell Schachar,Russell Schachar,Sandra K.,James J. McGough,Eugenio H. Grevet,Sarah E. Medland,Elise B. Robinson,Elise B. Robinson,Lauren A. Weiss,Elena Bacchelli,Anthony J. Bailey,Vanessa H. Bal,Agatino Battaglia,Catalina Betancur,Patrick Bolton,Rita M. Cantor,Patrícia B. S. Celestino-Soper,Geraldine Dawson,Silvia De Rubeis,Frederico Duque,Andrew Green,Andrew Green,Sabine M. Klauck,Marion Leboyer,Marion Leboyer,Pat Levitt,Pat Levitt,Elena Maestrini,Shrikant M. Mane,Daniel Moreno-De-Luca,Daniel Moreno-De-Luca,Jeremy R. Parr,Jeremy R. Parr,Jeremy R. Parr,Regina Regan,Abraham Reichenberg,Sven Sandin,Sven Sandin,Jacob A. S. Vorstman,Thomas H. Wassink,Ellen M. Wijsman,Edwin H. Cook,Susan L. Santangelo,Susan L. Santangelo,Richard Delorme,Richard Delorme,Bernadette Rogé,Bernadette Rogé,Tiago R. Magalhaes,Dan E. Arking,Thomas G. Schulze,Robert C. Thompson,Robert C. Thompson,Jana Strohmaier,Keith Matthews,Keith Matthews,Ingrid Melle,Ingrid Melle,Derek W. Morris,Douglas Blackwood,Andrew M. McIntosh,Sarah E. Bergen,Martin Schalling,Martin Schalling,Stéphane Jamain,Stéphane Jamain,Anna Maaser,Anna Maaser,Sascha B. Fischer,Sascha B. Fischer,Céline S. Reinbold,Céline S. Reinbold,Janice M. Fullerton,Janice M. Fullerton,Jose Guzman-Parra,Fermín Mayoral,Peter R. Schofield,Peter R. Schofield,Sven Cichon,Sven Cichon,Sven Cichon,Thomas W. Mühleisen,Thomas W. Mühleisen,Franziska Degenhardt,Johannes Schumacher,Michael Bauer,Philip B. Mitchell,Philip B. Mitchell,Elliot S. Gershon,John P. Rice,James B. Potash,Peter P. Zandi,Nicholas John Craddock,I. Nicol Ferrier,Martin Alda,Martin Alda,Guy A. Rouleau,Guy A. Rouleau,Gustavo Turecki,Roel A. Ophoff,Carlos N. Pato,Adebayo Anjorin,Eli A. Stahl,Eli A. Stahl,Markus Leber,Piotr M. Czerski,Cristiana Cruceanu,Ian Jones,Danielle Posthuma,Danielle Posthuma,Till F. M. Andlauer,Till F. M. Andlauer,Andreas J. Forstner,Fabian Streit,Bernhard T. Baune,Tracy Air,Grant Sinnamon,Grant Sinnamon,Naomi R. Wray,Donald J. MacIntyre,David J. Porteous,Georg Homuth,Margarita Rivera,Margarita Rivera,Jakob Grove,Christel M. Middeldorp,Christel M. Middeldorp,Christel M. Middeldorp,Ian B. Hickie,Michele L. Pergadia,Divya Mehta,Divya Mehta,Johannes H. Smit,Johannes H. Smit,Rick Jansen,Eco J. C. de Geus,Eco J. C. de Geus,Erin C. Dunn,Qingqin S. Li,Matthias Nauck,Robert A. Schoevers,Aartjan T.F. Beekman,James A. Knowles,Alexander Viktorin,Paul D. Arnold,Paul D. Arnold,Cathy L. Barr,Cathy L. Barr,Cathy L. Barr,Gabriel Bedoya-Berrio,O. Joseph Bienvenu,Helena Brentani,Christie L. Burton,Beatriz Camarena,Carolina Cappi,Danielle C. Cath,Maria Cristina Cavallini,Daniele Cusi,Sabrina M. Darrow,Damiaan Denys,Damiaan Denys,Eske M. Derks,Andrea Dietrich,Andrea Dietrich,Thomas V. Fernandez,Martijn Figee,Martijn Figee,Nelson B. Freimer,Gloria Gerber,Marco A. Grados,Erica Greenberg,Gregory L. Hanna,Andreas Hartmann,Matthew E. Hirschtritt,Pieter J. Hoekstra,Alden Y. Huang,Alden Y. Huang,Chaim Huyser,Cornelia Illmann,Michael A. Jenike,Samuel Kuperman,Bennett L. Leventhal,Christine Lochner,Gholson J. Lyon,Fabio Macciardi,Marcos Madruga-Garrido,Irene A. Malaty,Athanasios Maras,Lauren M. McGrath,Euripedes Constantino Miguel,Pablo Mir,Gerald Nestadt,Humberto Nicolini,Michael S. Okun,Andrew J. Pakstis,Peristera Paschou,John Piacentini,Christopher Pittenger,Kerstin J. Plessen,Kerstin J. Plessen,Vasily Ramensky,Eliana Marisa Ramos,Victor I. Reus,Margaret A. Richter,Margaret A. Richter,Mark A. Riddle,Mary M. Robertson,Veit Roessner,Maria Conceição do Rosário,Maria Conceição do Rosário,Jack Samuels,Paul Sandor,Paul Sandor,Dan J. Stein,Dan J. Stein,Fotis Tsetsos,Filip Van Nieuwerburgh,Sarah Weatherall,Jens R. Wendland,Tomasz Wolańczyk,Yulia Worbe,Gwyneth Zai,Fernando S. Goes,Nicole C.R. McLaughlin,Nicole C.R. McLaughlin,Paul S. Nestadt,Hans-Jörgen Grabe,Christel Depienne,Christel Depienne,Christel Depienne,Anuar Konkashbaev,Nuria Lanzagorta,Ana Victoria Valencia-Duarte,Ana Victoria Valencia-Duarte,Elvira Bramon,Nancy G. Buccola,Wiepke Cahn,Murray J. Cairns,Siow A. Chong,David Cohen,Benedicto Crespo-Facorro,Benedicto Crespo-Facorro,James J. Crowley,Michael Davidson,Lynn E. DeLisi,Lynn E. DeLisi,Timothy G. Dinan,Gary Donohoe,Elodie Drapeau,Jubao Duan,Jubao Duan,Lieuwe de Haan,David M. Hougaard,Sena Karachanak-Yankova,Andrey Khrunin,Janis Klovins,Vaidutis Kučinskas,Jimmy Lee Chee Keong,Svetlana A. Limborska,Carmel M. Loughland,Jouko Lönnqvist,Jouko Lönnqvist,Brion S. Maher,Manuel Mattheisen,Manuel Mattheisen,Colm McDonald,Kieran C. Murphy,Igor Nenadic,Jim van Os,Jim van Os,Jim van Os,Christos Pantelis,Christos Pantelis,Michele T. Pato,Tracey L. Petryshen,Tracey L. Petryshen,Digby Quested,Digby Quested,Panos Roussos,Alan R. Sanders,Alan R. Sanders,Ulrich Schall,Sibylle G. Schwab,Kang Sim,Kang Sim,Hon-Cheong So,Hon-Cheong So,Elisabeth Stoegmann,Elisabeth Stoegmann,Mythily Subramaniam,Draga Toncheva,John L. Waddington,James T.R. Walters,Mark Weiser,Mark Weiser,Wei Cheng,Robert C. Cloninger,David Curtis,David Curtis,Pablo V. Gejman,Pablo V. Gejman,Frans Henskens,Morten Mattingsdal,Sang-Yun Oh,Sang-Yun Oh,Rodney J. Scott,Rodney J. Scott,Bradley T. Webb,Gerome Breen,Claire Churchhouse,Claire Churchhouse,Cynthia M. Bulik,Cynthia M. Bulik,Mark J. Daly,Mark J. Daly,Martin Dichgans,Stephen V. Faraone,Rita Guerreiro,Peter Holmans,Kenneth S. Kendler,Bobby P. C. Koeleman,Carol A. Mathews,Alkes L. Price,Alkes L. Price,Jeremiah M. Scharf,Pamela Sklar,Julie Williams,Nicholas W. Wood,Chris Cotsapas,Chris Cotsapas,Aarno Palotie,Jordan W. Smoller,Jordan W. Smoller,Patrick F. Sullivan,Jonathan Rosand,Aiden Corvin,Aiden Corvin,Benjamin M. Neale,Benjamin M. Neale +720 more
TL;DR: It is demonstrated that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine, and it is shown that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures.
Journal ArticleDOI
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
Andrew Elden,Hyung-Jun Kim,Michael P. Hart,Alice Chen-Plotkin,Brian S. Johnson,Xiaodong Fang,Maria Armakola,Felix Geser,Robert W. Greene,Min Min Lu,Arun Padmanabhan,Dana Clay-Falcone,Leo McCluskey,Lauren Elman,Denise Juhr,Peter J. Gruber,Udo Rüb,Georg Auburger,John Q. Trojanowski,Virginia M.-Y. Lee,Vivianna M. Van Deerlin,Nancy M. Bonini,Aaron D. Gitler +22 more
TL;DR: It is shown that ataxin 2 (ATXN2), a polyglutamine (polyQ) protein mutated in spinocerebellar ataxia type 2, is a potent modifier of TDP-43 toxicity in animal and cellular models.
Journal ArticleDOI
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Janel O. Johnson,Jessica Mandrioli,Michael Benatar,Yevgeniya Abramzon,Vivianna M. Van Deerlin,John Q. Trojanowski,J. Raphael Gibbs,J. Raphael Gibbs,Maura Brunetti,Susan Gronka,Joanne Wuu,Jinhui Ding,Leo McCluskey,Maria Martinez-Lage,Dana Falcone,Dena G. Hernandez,Dena G. Hernandez,Sampath Arepalli,Sean Chong,Jennifer C. Schymick,Jeffrey D. Rothstein,Francesco Landi,Yong Dong Wang,Andrea Calvo,Gabriele Mora,Mario Sabatelli,Maria Rosaria Monsurrò,Stefania Battistini,Fabrizio Salvi,Rossella Spataro,Patrizia Sola,Giuseppe Borghero,Giuliana Galassi,Sonja W. Scholz,Sonja W. Scholz,J. Paul Taylor,Gabriella Restagno,Adriano Chiò,Bryan J. Traynor,Bryan J. Traynor +39 more
TL;DR: Exome sequencing data broaden the phenotype of IBMPFD to include motor neuron degeneration, suggest that VCP mutations may account for ∼1%-2% of familial ALS, and provide evidence directly implicating defects in the ubiquitination/protein degradation pathway in motor neurons degeneration.
Journal ArticleDOI
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Elisa Majounie,Alan E. Renton,Kin Y. Mok,Elise G.P. Dopper,Elise G.P. Dopper,Adrian James Waite,Sara Rollinson,Adriano Chiò,Gabriella Restagno,Nayia Nicolaou,Nayia Nicolaou,Javier Simón-Sánchez,Javier Simón-Sánchez,John C. van Swieten,John C. van Swieten,Yevgeniya Abramzon,Janel O. Johnson,Michael Sendtner,Roger Pamphlett,Richard W. Orrell,Simon Mead,Katie C. L. Sidle,Henry Houlden,Jonathan D. Rohrer,Karen E. Morrison,Hardev Pall,Kevin Talbot,Olaf Ansorge,Dena G. Hernandez,Sampath Arepalli,Mario Sabatelli,Gabriele Mora,Massimo Corbo,Fabio Giannini,Andrea Calvo,Elisabet Englund,Giuseppe Borghero,Gian Luca Floris,Anne M. Remes,Hannu Laaksovirta,Leo McCluskey,John Q. Trojanowski,Vivianna M. Van Deerlin,Gerard D. Schellenberg,Mike A. Nalls,Vivian E. Drory,Chin-Song Lu,Chin-Song Lu,Tu-Hsueh Yeh,Tu-Hsueh Yeh,Hiroyuki Ishiura,Yuji Takahashi,Shoji Tsuji,Isabelle Le Ber,Isabelle Le Ber,Isabelle Le Ber,Alexis Brice,Alexis Brice,Alexis Brice,Carsten Drepper,Nigel Williams,Janine Kirby,Pamela J. Shaw,John Hardy,Pentti J. Tienari,Peter Heutink,Huw R. Morris,Huw R. Morris,Huw R. Morris,Stuart Pickering-Brown,Bryan J. Traynor,Bryan J. Traynor +71 more
TL;DR: A common Mendelian genetic lesion in C9orf72 is implicated in many cases of sporadic and familial ALS and FTD, suggesting a one-off expansion occurring about 1500 years ago.