نتائج البحث - Jesús Esteban‐Pérez

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  1. 1
    Genetic Biomarkers for ALS Disease in Transgenic SOD1G93A Mice

    Genetic Biomarkers for ALS Disease in Transgenic SOD1G93A Mice حسب Ana Cristina Calvo, Raquel Manzano, Gabriela Atencia-Cibreiro, Sara Oliván, Marı́a Jesús Muñoz, P. Zaragoza, Pilar Cordero-Vázquez, Jesús Esteban‐Pérez, Alberto García‐Redondo, Rosario Osta

    منشور في 2012
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  2. 2
    Neuregulin-1 promotes functional improvement by enhancing collateral sprouting in SOD1G93A ALS mice and after partial muscle denervation

    Neuregulin-1 promotes functional improvement by enhancing collateral sprouting in SOD1G93A ALS mice and after partial muscle denervation حسب Renzo Mancuso, Anna Martínez‐Muriana, Tatiana Leiva-Rodríguez, David I. Gregorio, Lorena Ariza, Marta Morell, Jesús Esteban‐Pérez, Alberto García‐Redondo, Ana Cristina Calvo, Gabriela Atencia-Cibreiro, Gabriel Corfas, Rosario Osta, Assumpció Bosch, Xavier Navarro

    منشور في 2016
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  3. 3
    The epidemiology and treatment of ALS: Focus on the heterogeneity of the disease and critical appraisal of therapeutic trials

    The epidemiology and treatment of ALS: Focus on the heterogeneity of the disease and critical appraisal of therapeutic trials حسب Ettore Beghi, Adriano Chió, Philippe Couratier, Jesús Esteban‐Pérez, Orla Hardiman, Giancarlo Logroscino, Andrea Millul, Douglas Mitchell, Pierre‐Marie Preux, Elisabetta Pupillo, Zorica Stević, Robert Swingler, Bryan J. Traynor, Leonard H. Van den Berg, Jan H. Veldink, Stefano Zoccolella

    منشور في 2010
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  4. 4
    Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population

    Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population حسب Daniel Borrego‐Hernández, Juan F. Vázquez‐Costa, Raúl Domínguez-Rubio, Laura Expósito-Blázquez, Elena Aller, Ariadna Padró‐Miquel, Pilar H. García‐Casanova, M.J. Colomina, Cristina Martín‐Arriscado Arroba, Rosario Osta, Pilar Cordero-Vázquez, Jesús Esteban‐Pérez, Mónica Povedano-Panadés, Alberto García‐Redondo

    منشور في 2024
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  5. 5
    Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

    Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia حسب Victoria Álvarez, Elena Sánchez-Ferrero, Christian Beetz, Marta Díaz, Belén Alonso, Ana I. Corao, Josep Gámez, Jesús Esteban‐Pérez, Juan Francisco Gonzalo, Samuel Ignacio Pascual Pascual, Adolfo López de Munaín, Germán Morís, Renne Ribacoba, Celedonio Márquez, Jordi Rosell, Rosario Marín, María J. García‐Barcina, Emilia del Castillo, Carmen Benito, Eliécer Coto

    منشور في 2010
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  6. 6
    Late-onset thymidine kinase 2 deficiency: a review of 18 cases

    Late-onset thymidine kinase 2 deficiency: a review of 18 cases حسب Cristina Domínguez‐González, Aurelio Hernández‐Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández‐Torrón, Carmen Fuiza-Luces, Jorge García‐García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz‐Manera, Candela Caballero‐Eraso, Bosco Méndez-Ferrer, Ramón Martí, Elena García‐Arumí, María Carmen Badosa, Jesús Esteban‐Pérez, C. Jimenez‐Mallebrera, Alberto Blázquez, Joaquı́n Arenas, Michio Hirano, Miguel Á. Martín, Carmen Paradas

    منشور في 2019
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  7. 7
    Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

    Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia حسب Oriol Dols‐Icardo, Alberto García‐Redondo, Ricard Rojas‐García, Raquel Sánchez‐Valle, Antoni Noguera‐Julián, Estrella Gómez‐Tortosa, Pau Pástor, Isabel de la Torre Díez, Jesús Esteban‐Pérez, Marc Suárez‐Calvet, Sofía Antón‐Aguirre, G. Amer, Sara Ortega‐Cubero, Rafael Blesa, Juan Fortea, Daniel Alcolea, Antoni Capdevila, Anna Antonell, Albert Lladó, José Luís Muñoz-Blanco, Jesús S. Mora, Lucia Galán-Dávila, Francisco Javier Rodríguez de Rivera Garrido, Alberto Lleó, Jordi Clarimón

    منشور في 2013
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  8. 8
    ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

    ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function حسب Martina de Majo, Simon Topp, Bradley Smith, Agnes L. Nishimura, Han-Jou Chen, Soragia Athina Gkazi, Jack W. Miller, Chun Hao Wong, Caroline Vance, Frank Baas, Anneloor L.M.A. ten Asbroek, Kevin P. Kenna, Nicola Ticozzi, Alberto García‐Redondo, Jesús Esteban‐Pérez, Cinzia Tiloca, Federico Verde, Stefano Duga, Karen Morrison, Pamela J. Shaw, Janine Kirby, Martin R. Turner, Kevin Talbot, Orla Hardiman, Jonathan D. Glass, Jacqueline de Belleroche, Cinzia Gellera, Antonia Ratti, Ammar Al‐Chalabi, Robert H. Brown, Vincenzo Silani, John E. Landers, Christopher E. Shaw

    منشور في 2018
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  9. 9
    Analysis of the<i>CHCHD10</i>gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

    Analysis of the<i>CHCHD10</i>gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain حسب Oriol Dols‐Icardo, Irene Nebot, Ana Gorostidi, Sara Ortega‐Cubero, Isabel de la Torre Díez, Ricard Rojas‐García, Alberto García‐Redondo, Mònica Povedano, Albert Lladó, Victoria Álvarez, Pascual Sánchez‐Juan, Julio Pardo, Ivonne Jericó, Juan F. Vázquez‐Costa, Teresa Sevilla, Fernando Cardona, Begoña Indakoechea, Fermín Moreno, Roberto Fernández‐Torrón, Laia Muñoz, Sonia Moreno‐Grau, Maiteé Rosende‐Roca, Álvaro Vela, José Luís Muñoz-Blanco, Onofre Combarros, Eliécer Coto, Daniel Alcolea, Juan Fortea, Alberto Lleó, Raquel Sánchez‐Valle, Jesús Esteban‐Pérez, Agustı́n Ruiz, Pau Pástor, Adolfo López de Munaín, Jordi Pérez‐Tur, Jordi Clarimón

    منشور في 2015
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  10. 10
    Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

    Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis حسب Bradley Smith, Simon Topp, Claudia Fallini, Hideki Shibata, Han-Jou Chen, Claire Troakes, Andrew 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 Parkin, Peter C. Sapp, Matthew Nolan, Peter J. Nestor, Michael A. Simpson, Michael E. Weale, Monkel Lek, Frank Baas, J. M. Vianney de Jong, Anneloor L.M.A. ten Asbroek, Alberto García‐Redondo, Jesús Esteban‐Pérez, Cinzia Tiloca, Federico Verde, Stefano Duga, Nigel Leigh, Hardev Pall, Karen 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 E. Landers, Christopher E. Shaw

    منشور في 2017
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  11. 11
    CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

    CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia حسب Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie E. Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, 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 Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Soragia Athina Gkazi, Jack W. Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luís Muñoz-Blanco, Jesús Esteban‐Pérez, Alberto Rábano, Orla Hardiman, Karen Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García‐Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair

    منشور في 2016
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  12. 12
    Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

    Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS حسب Bradley Smith, Nicola Ticozzi, Claudia Fallini, Soragia Athina Gkazi, Simon Topp, Kevin P. Kenna, Emma L. Scotter, Jason Kost, Pamela Keagle, Jack W. Miller, Daniela Calini, Caroline Vance, Eric Danielson, Claire Troakes, Cinzia Tiloca, Safa Al‐Sarraj, Elizabeth Lewis, Andrew King, Claudia Colombrita, Viviana Pensato, Barbara Castellotti, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, Peter C. Sapp, Diane McKenna‐Yasek, Russell L. McLaughlin, Meraida Polak, Pamela J. Shaw, Jesús Esteban‐Pérez, José Luís Muñoz-Blanco, Michael A. Simpson, Wouter van Rheenen, Frank P. Diekstra, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Karen Morrison, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Patrick A. Dion, Claire S. Leblond, Guy A. Rouleau, Orla Hardiman, Jan H. Veldink, Leonard 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, Cinzia Gellera, Antonia Ratti, Robert H. Brown, Vincenzo Silani, Christopher E. Shaw, John E. Landers, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin

    منشور في 2014
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  13. 13
    NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

    NEK1 variants confer susceptibility to amyotrophic lateral sclerosis حسب Kevin P. Kenna, Perry T.C. van Doormaal, Annelot M. Dekker, Nicola Ticozzi, Brendan Kenna, Frank P. Diekstra, Wouter van Rheenen, Kristel R. van Eijk, Ashley Jones, Pamela Keagle, Aleksey Shatunov, William Sproviero, Bradley 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 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, Pamela J. Shaw, José Luís Muñoz-Blanco, Tim M. Strom, Thomas Meitinger, Karen Morrison, Giuseppe Lauria, Kelly L. Williams, P. Nigel Leigh, Garth A. Nicholson, Ian P. Blair, Claire S. Leblond, Patrick A. Dion, Guy A. Rouleau, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Khrista Boylan, Marka van Blitterswijk, Rosa Rademakers, Jesús Esteban‐Pérez, Alberto García‐Redondo, Philip Van Damme, Wim Robberecht, Adriano Chió, Cinzia Gellera, Carsten Drepper, Michael Sendtner, Antonia Ratti, Jonathan D. Glass, Jesús S. Mora, Nazlı Başak, Orla Hardiman, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, Robert H. Brown, Ammar Al‐Chalabi, Vincenzo Silani, Christopher E. Shaw, Leonard H. van den Berg, Jan H. Veldink, John E. Landers

    منشور في 2016
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  14. 14
    Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis حسب Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A. Hickman, Thor D. Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S. Sabir, Makayla K. Portley, Arianna Tucci, Kristina Ibáñez, F.N.U. Shankaracharya, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, María Landqvist Waldö, Per Johansson, Christer Nilsson, Adelani Adeleye, Luisa Benussi, Giuliano Binetti, Daniel Hupalo, Elisa McGrath Martinez, Harvey B. Pollard, Gauthaman Sukumar, Anthony R. Soltis, Meila Tuck, Xijun Zhang, Matthew D. Wilkerson, Ali Torkamani, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon Topp, Jason Kost, Neil Kowal, Kevin P. Kenna, Jack W. Miller, Jean Paul Vonsattel, Caroline Vance, Huw R. Morris, Raffaele Ferrari, Claudia Colombrita, Daniela Galimberti, J. Raphael Gibbs, Andrew King, Daniela Calini, Viviana Pensato, Barbara Castellotti, Camille Alba, Dagmar Bačíková, Anneloor L.M.A. ten Asbroek, Elisa McGrath Martinez, Merit Cudkowicz, Russell L. McLaughlin, Meraida Polak, Pamela J. Shaw, Jesús Esteban‐Pérez, José Luís Muñoz-Blanco, Zorica Stević, Sandra D’Alfonso, Kevin P. Kenna, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Kevin P. Kenna, Cinzia Bertolin, Wouter van Rheenen, Frank P. Diekstra, Rosa Rademakers, Marka van Blitterswijk, Khrista Boylan, Safa Al‐Sarraj, Stefano Duga, Andrew King, Cristina Cereda, Hannah A. Pliner, Barbara Castellotti, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Neil W. Kowall, Orla Hardiman, Meraida Polak, Jan H. Veldink, Leonard H. van den Berg, José Luís Muñoz-Blanco, Hardev Pall, Stephen A. Goutman, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García‐Redondo, Zheyang Wu, Russell L. McLaughlin, Antonia Ratti, Robert H. Brown

    منشور في 2020
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  15. 15
    Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis

    Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis حسب Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran, Yevgeniya Abramzon, Nada Alahmady, Alan E. Renton, Simon Topp, J. Raphael Gibbs, Mark Cookson, Marya S. Sabir, Clifton L. Dalgard, Claire Troakes, Ashley Jones, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Nicola Ticozzi, Vincenzo Silani, Cinzia Gellera, Ian P. Blair, Carol Dobson‐Stone, John B. Kwok, Emily Bonkowski, Robin Palvadeau, Pentti J. Tienari, Karen Morrison, Pamela J. Shaw, Ammar Al‐Chalabi, Robert H. Brown, Andrea Calvo, Gabriele Mora, Hind Al-Saif, Marc Gotkine, Fawn Leigh, Irene J. Chang, Seth J. Perlman, Ian Glass, Anna I. Scott, Christopher E. Shaw, A. Nazlı Başak, John E. Landers, Adriano Chió, Thomas O. Crawford, Bradley Smith, Bryan J. Traynor, Bradley Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon Topp, Emma L. Scotter, Kevin P. Kenna, Pamela Keagle, Cinzia Tiloca, Caroline Vance, Claire Troakes, Claudia Colombrita, Andrew King, Viviana Pensato, Barbara Castellotti, Frank Baas, Anneloor L.M.A. ten Asbroek, Diane McKenna‐Yasek, Russell L. McLaughlin, Meraida Polak, Pamela J. Shaw, Jesús Esteban‐Pérez, Zorica Stević, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Wouter van Rheenen, Rosa Rademakers, Marka van Blitterswijk, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Guy A. Rouleau, Orla Hardiman, Karen Morrison, Jan H. Veldink, Leonard H. van den Berg, Ammar Al‐Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner

    منشور في 2021
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