J
Jesús Esteban-Pérez
Researcher at University of Valencia
Publications - 18
Citations - 1805
Jesús Esteban-Pérez is an academic researcher from University of Valencia. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Mutation (genetic algorithm). The author has an hindex of 13, co-authored 18 publications receiving 1357 citations. Previous affiliations of Jesús Esteban-Pérez include Hospital General Universitario Gregorio Marañón.
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Journal ArticleDOI
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Aude Nicolas,Kevin P. Kenna,Alan E. Renton,Alan E. Renton,Nicola Ticozzi,Faraz Faghri,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.A. van der Spek,Hannah A. Pliner,Shankaracharya,Bradley N. Smith,Giuseppe Marangi,Giuseppe Marangi,Simon Topp,Yevgeniya Abramzon,Yevgeniya Abramzon,Athina Soragia Gkazi,John D. Eicher,Aoife Kenna,Francesco 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 Luisa 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,A 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 Laura Simone,Sandra D'Alfonso,Lucia Corrado,Luigi Ferrucci,Matthew B. Harms,David Goldstein,Neil A. Shneider,Stephen A. Goutman,Zachary Simmons,Timothy M. Miller,Siddharthan Chandran,Suvankar Pal,George Manousakis,Stanley H. Appel,Ericka Simpson,Leo H. Wang,Robert H. Baloh,Summer B. Gibson,Richard Bedlack,David Lacomis,Dhruv Sareen,Alexander Sherman,Lucie Bruijn,Michelle Penny,Cristiane de Araújo Martins Moreno,Sitharthan Kamalakaran,Andrew S. Allen,Stanley Appel,Richard S. Bedlack,Braden E. Boone,Robert H. 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,Timothy D. Harris,Sebastian D. Hayes,Angela Jones,Jonathan Keebler,Brian J. Krueger,Brittany N. Lasseigne,Shawn 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 Xin,Hemali Phatnani,Justin Y. 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 MacGowan,Terry Heiman-Patterson,Molly G. Hammell,Nikolaos A. Patsopoulos,Joshua Dubnau,Avindra Nath,Rajeeva Musunuri,Uday S. Evani,Avinash Abhyankar,Michael C. Zody,Julia A. Kaye,Steven Finkbeiner,Stacia K. Wyman,Alexander LeNail,Leandro Lima,Jeffrey D. Rothstein,Clive N. Svendsen,Jenny Van Eyk,Nicholas J. Maragakis,Stephen J. Kolb,Merit Cudkowicz,Emily G. Baxi,Stacia Wyman,Alex LeNail,Jennifer E. Van Eyk,Michael Benatar,J. Paul Taylor,Gang Wu,Evadnie Rampersaud,Joanne Wuu,Rosa Rademakers,Stephan Züchner,Rebecca Schüle,Jacob L. McCauley,Sumaira Hussain,Anne Cooley,Marielle Wallace,Christine Clayman,Richard J. Barohn,Jeffrey Statland,John Ravits,Andrea Swenson,Carlayne E. Jackson,Jaya Trivedi,Shaida Khan,Jonathan L. Katz,Liberty Jenkins,Ted M. Burns,Kelly G. Gwathmey,James Caress,Corey T. McMillan,Lauren Elman,Erik P. Pioro,Jeannine M. Heckmann,Yuen T. So,David Walk,Samuel Maiser,Jinghui Zhang,Vincenzo Silani,C. 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 Vourc'h,Veronique 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. L. Sidle,John Hardy,Andrew B. Singleton,Janel O. Johnson,Sampath Arepalli,Meraida Polak,Seneshaw Asress,Safa Al-Sarraj,Andrew T. 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 S. Gerhard,Travis Dunckley,Christopher B. Brady,Christopher B. Brady,Neil W. Kowall,Juan C. Troncoso,Isabelle Le Ber,Terry Heiman-Patterson,Terry 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,Jesus S. Mora,Vivian E. Drory,Pamela J. Shaw,Martin R Turner,Kevin Talbot,Orla Hardiman,Kelly L. Williams,Jennifer A. Fifita,Garth A. Nicholson,Garth A. Nicholson,Ian P. Blair,Jesús Esteban-Pérez,Alberto García-Redondo,Ammar Al-Chalabi,Ahmad Al Kheifat,Peter M. Andersen,Adriano Chiò,Jonathan Cooper-Knock,Annelot M. Dekker,Vivian E. Drory,Alberto Garcia Redondo,Marc Gotkine,Winston Hide,Alfredo Iacoangeli,Jonathan Glass,K.P. Kenna,Matthew C. Kiernan,John E. Landers,Russell McLaughlin,Jonathan Mill,Miguel Mitne Neto,Mattieu Moisse,Jesus S. Mora Pardina,Karen E. Morrison,Stephen Newhouse,Susana Pinto,Sara L. Pulit,Wim Robberecht,Pamela Shaw,Chris Shaw,William Sproviero,Gijs H.P. Tazelaar,Philip Van Damme,Leonard H. van den Berg,Rick van der Spek,Kristel R van Eijk,Michael A van Es,Joke van Vugt,J. H. 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 Gibson,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 J. Tienari,Christopher Shaw,Bryan J. Traynor,Bryan J. Traynor,John Landers +435 more
TL;DR: Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2.
Journal ArticleDOI
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Bradley N. Smith,Nicola Ticozzi,Claudia Fallini,Athina Soragia Gkazi,Simon Topp,Kevin P. Kenna,Emma L. Scotter,Jason E. Kost,Pamela Keagle,Jack W. Miller,Daniela Calini,Caroline Vance,Eric Danielson,Claire Troakes,Cinzia Tiloca,Safa Al-Sarraj,Elizabeth A. Lewis,Andrew T. King,Claudia Colombrita,Viviana Pensato,Barbara Castellotti,J. de Belleroche,Frank Baas,A. L. M. A. ten Asbroek,Peter C. Sapp,Diane McKenna-Yasek,Russell L. McLaughlin,Meraida Polak,Seneshaw Asress,Jesús Esteban-Pérez,José Luis Muñoz-Blanco,Michael A. Simpson,W van Rheenen,Frank P. Diekstra,Giuseppe Lauria,Stefano Duga,Stefania Corti,Cristina Cereda,Lucia Corrado,Gianni Sorarù,Karen E. Morrison,Kelly L. Williams,Garth A. Nicholson,Ian P. Blair,Patrick A. Dion,Claire S. Leblond,Guy A. Rouleau,Orla Hardiman,Jan H. Veldink,L. H. van den Berg,Ammar Al-Chalabi,Hardev Pall,Pamela J. Shaw,Martin R Turner,Kevin Talbot,Franco Taroni,Alberto García-Redondo,Zheyang Wu,Jonathan D. Glass,C. Gellera,Antonia Ratti,Robert H. Brown,Vincenzo Silani,Christopher Shaw,John Landers +64 more
TL;DR: In this paper, an exome-wide rare variant burden analysis of 363 index cases with familial ALS (FALS) was performed and the results revealed an excess of patient variants within TUBA4A, the gene encoding the Tubulin, Alpha 4A protein.
Journal ArticleDOI
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Kevin P. Kenna,Perry T.C. van Doormaal,Annelot M. Dekker,Nicola Ticozzi,Brendan J. Kenna,Frank P. Diekstra,Wouter van Rheenen,Kristel R van Eijk,Ashley R. Jones,Pamela Keagle,Aleksey Shatunov,William Sproviero,Bradley N. Smith,Michael A van Es,Simon Topp,Aoife Kenna,Jack W. Miller,Claudia Fallini,Cinzia Tiloca,Russell L. McLaughlin,Caroline Vance,Claire Troakes,Claudia Colombrita,Gabriele Mora,Andrea Calvo,Federico Verde,Safa Al-Sarraj,Andrew T. King,Daniela Calini,Jacqueline de Belleroche,Frank Baas,Anneke J. van der Kooi,Marianne de Visser,Anneloor L.M.A. ten Asbroek,Peter C. Sapp,Diane McKenna-Yasek,Meraida Polak,Seneshaw Asress,José Luis Muñoz-Blanco,Tim M. Strom,Thomas Meitinger,Karen E. Morrison,Giuseppe Lauria,Kelly L. Williams,P. Nigel Leigh,Garth A. Nicholson,Garth A. Nicholson,Ian P. Blair,Claire S. Leblond,Patrick A. Dion,Guy A. Rouleau,Hardev Pall,Hardev Pall,Pamela J. Shaw,Martin R Turner,Kevin Talbot,Franco Taroni,Kevin B. Boylan,Marka van Blitterswijk,Rosa Rademakers,Jesús Esteban-Pérez,Alberto García-Redondo,Phillip Van Damme,Wim Robberecht,Adriano Chiò,Cinzia Gellera,Carsten Drepper,Michael Sendtner,Antonia Ratti,Jonathan D. Glass,Jesus S. Mora,Nazli Basak,Orla Hardiman,Albert C. Ludolph,Peter M. Andersen,Jochen H. Weishaupt,Robert H. Brown,Ammar Al-Chalabi,Vincenzo Silani,Christopher Shaw,Leonard H. van den Berg,Jan H. Veldink,John Landers +82 more
TL;DR: In a new screening strategy, gene-burden analyses trained with established ALS genes are performed and a significant association between loss-of-function (LOF) NEK1 variants and FALS risk is identified.
Journal ArticleDOI
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Bradley N. Smith,Simon Topp,Claudia Fallini,Hideki Shibata,Han-Jou Chen,Claire Troakes,Andrew P. King,Nicola Ticozzi,Kevin P. Kenna,Athina Soragia-Gkazi,Jack W. Miller,Akane Sato,Diana Marques Dias,Maryangel Jeon,Caroline Vance,Chun Hao Wong,Martina de Majo,Wejdan Kattuah,Jacqueline C. Mitchell,Emma L. Scotter,Nicholas W Parkin,Peter C. Sapp,Matthew Nolan,Peter J. Nestor,Michael A. Simpson,Michael E. Weale,Monkel Lek,Monkel Lek,Frank Baas,J M Vianney de Jong,Anneloor L.M.A. ten Asbroek,Alberto Garcia Redondo,Jesús Esteban-Pérez,Cinzia Tiloca,Federico Verde,Stefano Duga,Nigel Leigh,Hardev Pall,Karen E. Morrison,Ammar Al-Chalabi,Pamela J. Shaw,Janine Kirby,Martin R Turner,Kevin Talbot,Orla Hardiman,Jonathan D. Glass,Jacqueline de Belleroche,Masatoshi Maki,Stephen E. Moss,Christopher C.J. Miller,Cinzia Gellera,Antonia Ratti,Safa Al-Sarraj,Robert H. Brown,Vincenzo Silani,John Landers,Christopher Shaw +56 more
TL;DR: It is concluded that mutations in ANXA11 are associated with ALS and implicate defective intracellular protein trafficking in disease pathogenesis.
Journal ArticleDOI
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
Kelly L. Williams,Kelly L. Williams,Simon Topp,Shu Yang,Bradley N. Smith,Jennifer A. Fifita,Sadaf T. Warraich,Katharine Y. Zhang,Natalie E. Farrawell,Caroline Vance,Xun Hu,Alessandra Chesi,Claire S. Leblond,Claire S. Leblond,Albert Lee,Stephanie L. Rayner,Vinod Sundaramoorthy,Vinod Sundaramoorthy,Carol Dobson-Stone,Carol Dobson-Stone,Mark P. Molloy,Marka van Blitterswijk,Dennis W. Dickson,Ronald C. Petersen,Neill R. Graff-Radford,Bradley F. Boeve,Melissa E. Murray,Cyril Pottier,Emily K. Don,Claire Winnick,Emily P. McCann,Alison L. Hogan,Hussein Daoud,Hussein Daoud,Annie Levert,Annie Levert,Patrick A. Dion,Patrick A. Dion,Jun Mitsui,Hiroyuki Ishiura,Yuji Takahashi,Jun Goto,Jason E. Kost,Jason E. Kost,Cinzia Gellera,Athina Soragia Gkazi,Jack W. Miller,Joanne D. Stockton,William S. Brooks,Karyn Boundy,Meraida Polak,José Luis Muñoz-Blanco,Jesús Esteban-Pérez,Alberto Rábano,Orla Hardiman,Karen E. Morrison,Karen E. Morrison,Karen E. Morrison,Nicola Ticozzi,Vincenzo Silani,Jacqueline de Belleroche,Jonathan D. Glass,John B.J. Kwok,John B.J. Kwok,Gilles J. Guillemin,Roger S. Chung,Shoji Tsuji,Robert H. Brown,Alberto García-Redondo,Rosa Rademakers,John Landers,Aaron D. Gitler,Guy A. Rouleau,Guy A. Rouleau,Nicholas J. Cole,Nicholas J. Cole,Justin J. Yerbury,Julie D. Atkin,Julie D. Atkin,Christopher Shaw,Garth A. Nicholson,Ian P. Blair +81 more
TL;DR: In this article, the authors used genome-wide linkage analysis in a large ALS/FTD kindred to identify a novel disease locus on chromosome 16p13.3, which encodes cyclin F, a component of an E3 ubiquitin-protein ligase complex (SCFCyclin F).