Risultati della ricerca - Ricardo Rojas‐García

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  1. 1
    Absence of Dysferlin Alters Myogenin Expression and Delays Human Muscle Differentiation “in Vitro”

    Absence of Dysferlin Alters Myogenin Expression and Delays Human Muscle Differentiation “in Vitro” di Noemí de Luna, Eduard Gallardo, Mario Soriano‐Navarro, Raúl Domínguez‐Perles, Carolina de la Torre, Ricardo Rojas‐García, José Manuel García‐Verdugo, Isabel Illa

    Pubblicazione 2006
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  2. 2
    Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy

    Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy di Eduard Gallardo, Noemí de Luna, Jordi Díaz‐Manera, Ricardo Rojas‐García, Lídia González-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère M. van der Maarel, Isabel Illa

    Pubblicazione 2011
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  3. 3
    Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg

    Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg di Luís Querol, Gisela Nogales‐Gadea, Ricardo Rojas‐García, Jordi Díaz‐Manera, Julio Pardo, A Ortega-Moreno, María J. Sedano, Eduard Gallardo, José Berciano, Rafael Blesa, Josep Dalmau, Isabel Illa

    Pubblicazione 2014
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  4. 4
    Denervation-activated STAT3–IL-6 signalling in fibro-adipogenic progenitors promotes myofibres atrophy and fibrosis

    Denervation-activated STAT3–IL-6 signalling in fibro-adipogenic progenitors promotes myofibres atrophy and fibrosis di Luca Madaro, Magda Passafaro, David Sala, Usue Etxaniz, Francesca Lugarini, Daisy Proietti, Maria Vittoria Alfonsi, Chiara Nicoletti, Sole Gatto, Marco De Bardi, Ricardo Rojas-García, Lorenzo Giordani, Sara Marinelli, Vittoria Pagliarini, Claudio Sette, Alessandra Sacco, Prem Puri

    Pubblicazione 2018
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  5. 5
    Serum neurofilament light chain predicts long-term prognosis in Guillain-Barré syndrome patients

    Serum neurofilament light chain predicts long-term prognosis in Guillain-Barré syndrome patients di L. Aguilar, Pol Camps‐Renom, Cinta Lleixà, Elba Pascual‐Goñi, Jordi Díaz‐Manera, Ricardo Rojas‐García, Noemí de Luna, Eduard Gallardo, Elena Cortés‐Vicente, Laia Muñoz, Daniel Alcolea, Alberto Lleó, Carlos Casasnovas, Christian Homedes, Gerardo Gutiérrez‐Gutiérrez, María Concepción Jimeno-Montero, José Berciano, M.J. Sedano-Tous, Tania García‐Sobrino, Julio Pardo-Fernández, C. Márquez Infante, I. Rojas-Marcos, Ivonne Jericó-Pascual, Eugenia Martínez‐Hernández, Germán Morís, Cristina Domínguez‐González, Isabel Illa, Luís Querol

    Pubblicazione 2020
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  6. 6
    Investigation of C9orf72 in 4 Neurodegenerative Disorders

    Investigation of C9orf72 in 4 Neurodegenerative Disorders di Zhengrui Xi, Lorne Zinman, Yakov Grinberg, Danielle Moreno, Christine Sato, Juan M. Bilbao, Mahdi Ghani, Isabel Hernández, Agustı́n Ruiz, Merçé Boada, Francisco Jesús Morón, Anthony E. Lang, Connie Marras, Amalia C. Bruni, Rosanna Colao, Raffaele Maletta, Gianfranco Puccio, Innocenzo Rainero, Lorenzo Pinessi, Daniela Galimberti, Karen Morrison, Catriona Moorby, Joanne Stockton, Mario Masellis, Sandra E. Black, Lili‐Naz Hazrati, Yan Liang, Jan van Haersma de With, Luis Fornazzari, Roque Villagra, Ricardo Rojas-García, Jordi Clarimón, Richard Mayeux, Janice Robertson, Peter St George–Hyslop, Ekaterina Rogaeva

    Pubblicazione 2012
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  7. 7
    Genotype–phenotype correlations in recessive titinopathies

    Genotype–phenotype correlations in recessive titinopathies di Marco Savarese, Anna Vihola, Emily C. Oates, Rita Barresi, Chiara Fiorillo, Giorgio Tasca, Manu Jokela, Anna Sárközy, Sushan Luo, Jordi Díaz‐Manera, Christoffer Ehrstedt, Ricardo Rojas‐García, Amets Sáenz, Nuria Muelas, Fortunato Lonardo, Heidi Fodstad, Talha Qureshi, Mridul Johari, Salla Välipakka, H. Luque, Philippe Petiot, Adolfo López de Munaín, Marika Pane, Eugenio Mercuri, Annalaura Torella, Vincenzo Nigro, Guja Astrea, Filippo M. Santorelli, Claudio Bruno, Thierry Küntzer, Isabel Illa, Juan J. Vílchez, Cédric Julien, Ana Ferreiro, Alessandro Malandrini, Chong-Bo Zhao, Olivera Casar‐Borota, Mark R. Davis, Francesco Muntoni, Peter Hackman, Bjarne Udd

    Pubblicazione 2020
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  8. 8
    <i>TBK1</i> Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    <i>TBK1</i> Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis di Julie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, Federica Perrone, Lubina Dillen, Bavo Heeman, Veerle Bäumer, Sebastiaan Engelborghs, Jan De Bleecker, Jonathan Baets, Ellen Gelpí, Ricardo Rojas-García, Jordi Clarimón, Alberto Lleó, Janine Diehl‐Schmid, Panagiotis Alexopoulos, Robert Perneczky, Matthis Synofzik, Jennifer Just, Lüdger Schöls, Caroline Graff, Håkan Thonberg, Barbara Borroni, Alessandro Padovani, Albena Jordanova, Stayko Sarafov, Ivailo Tournev, Alexandre de Mendonça, Gábriel Miltenberger-Miltényi, Frederico Simões do Couto, Alfredo Ramı́rez, Frank Jessen, Michael T. Heneka, Estrella Gómez‐Tortosa, Adrian Danek, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Peter Paul De Deyn, Kristel Sleegers, Marc Cruts, Christine Van Broeckhoven, Johan Goeman, Dirk Nuytten, Katrien Smets, Wim Robberecht, Philip Van Damme, Jan De Bleecker, Patrick Santens, Bart Dermaut, Jan Versijpt, Alex Michotte, Adrian Ivanoiu, Olivier Deryck, Bruno Bergmans, Jean Delbeck, M. Bruyland, Christiana Willems, Éric Salmon, Pau Pástor, Sara Ortega‐Cubero, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Isabel Hernández, Merçé Boada, Agustı́n Ruiz, Sandro Sorbi, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Raquel Sánchez‐Valle, Albert Lladó, Isabel Santana, Maria Rosário Almeida, Giovanni B. Frisoni, Walter Maetzler, Radoslav Matěj, Matthew J. Fraidakis, Gábor G. Kovács, Gian Maria Fabrizi, Silvia Testi

    Pubblicazione 2016
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  9. 9
    Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS

    Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS di Madhurima Chatterjee, Selcuk Özdemir, Christian Fritz, Wiebke Möbius, Luca Kleineidam, Eckhard Mandelkow�, Jacek Biernat, Cem Doğdu, Oliver Peters, Nicoleta Carmen Cosma, Xiao Wang, Luisa‐Sophie Schneider, Josef Priller, Eike Jakob Spruth, Andrea A. Kühn, Patricia Krause, Thomas Klockgether, Ina R. Vogt, Okka Kimmich, Annika Spottke, Daniel C. Hoffmann, Klaus Fließbach, Carolin Miklitz, Cornelia McCormick, Patrick Weydt, Björn Falkenburger, Moritz Brandt, René Guenther, Elisabeth Dinter, Jens Wiltfang, Niels Hansen, Mathias Bähr, Inga Zerr, Agnes Flöel, Peter J. Nestor, Emrah Düzel, Wenzel Glanz, Enise I. Incesoy, Katharina Bürger, Daniel Janowitz, Robert Perneczky, Boris‐Stephan Rauchmann, Franziska Hopfner, Olivia Wagemann, Johannes Levin, Stefan Teipel, Ingo Kilimann, Doreen Göerß, Johannes Prudlo, Thomas Gasser, Kathrin Brockmann, David Mengel, Milan Zimmermann, Matthis Synofzik, Carlo Wilke, Judit Selma‐González, Janina Turón‐Sans, Miguel Santos‐Santos, Daniel Alcolea, Sara Rubio‐Guerra, Juan Fortea, Álvaro Carbayo, Alberto Lleó, Ricardo Rojas‐García, Ignacio Illán‐Gala, Michael Wagner, Ingo Frommann, Sandra Roeske, L Bertram, Michael T. Heneka, Frederic Brosseron, Alfredo Ramı́rez, Matthias Schmid, Rudi Beschorner, Annett Halle, Jochen Herms, Manuela Neumann, Nicolas R. Barthélemy, Randall J. Bateman, Patrizia Rizzu, Peter Heutink, Oriol Dols‐Icardo, Günter U. Höglinger, Andreas Hermann, Anja Schneider

    Pubblicazione 2024
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  10. 10
    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD di Andrea Cortese, Maike F. Dohrn, Riccardo Currò, Sara Negri, Petra Laššuthová, Chiara Pisciotta, Stefano Tozza, Abdullah Al‐Ajmi, Changyoung Feng, Pedro José Tomaselli, Gorka Fernández‐Eulate, S. Haddad, Matilde Laurà, Alexander M. Rossor, Elisa Vegezzi, Stefano Facchini, James N. Sleigh, Adriana Rebelo, Danique Beijer, Jacquelyn Raposo, Mario Saporta, Barbora Lauerová, Helena F. Pernice, Pascal Achenbach, Ulrike Schöne, Tayir Alon, Marcus Deschauer, Isabell Cordts, Carolin D. Obermaier, Natalie Winter, Peter D. Creigh, Janet E. Sowden, Tyler Rehbein, Stefania Magri, Alessandro Bertini, Paola Saveri, Paolo Ripellino, Jingyu Huang, Aleksandra Nadaj-Pakleza, Alison Ross, James Holt, Kathryn M. Brennan, Rivka Sukenik‐Halevy, Varoona Bizaoui, Yeşim Parman, Esra Battaloğlu, Arman Çakar, Hadil Alrohaif, Simon Hammans, Kishore R. Kumar, Marina Kennerson, Hülya Kayserili, Defne A. Amado, Katrin Hahn, Paola Valentino, Francesca Cavalcanti, Carlo Gaetano, Franco Taroni, Geir J. Braathen, Henry Houlden, Tanya Stojkovic, Stojan Peric, Alessandra Bolino, Stefano C. Previtali, Yi‐Chung Lee, A. Nazlı Başak, Sherifa A. Hamed, Ricardo Rojas‐García, Tanya Stojkovic, Wilson Marques, Teresa Sevilla, Beate Schlotter‐Weigel, Fiore Manganelli, Ruxu Zhang, David N. Herrmann, Steven S. Scherer, Pavel Seeman, Davide Pareyson, Mary M. Reilly, Michael E. Shy, Stephan Züchner

    Pubblicazione 2025
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  11. 11
    Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

    Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis di 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 Tazelaar, Max Koppers, Anna M. Blokhuis, William Sproviero, Ashley 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, Jesús S. Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen 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. Nazlı Başak, Ceren Tunca, Hamid Hamzeiy, Yeşim Parman, Thomas Meitinger, Peter Lichtner, Milena Radivojkov‐Blagojevic, Christian Andrés, Cindy Maurel, Gilbert Bensimon, G. Bernhard Landwehrmeyer, Alexis Brice, Christine Payan, Safaa Saker-Delye, Alexandra Dürr, Nicholas Wood, Lukas Tittmann, Wolfgang Lieb, André Franke, Marcella Rietschel, Sven Cichon, Markus M. Nöthen, Philippe Amouyel, Christophe Tzourio, Jean‐François Dartigues, André G. Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Hylke M. Blauw, Anneke J. van der Kooi

    Pubblicazione 2016
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  12. 12
    Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

    Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology di Wouter van Rheenen, Rick A. A. van der Spek, Mark K. Bakker, Joke J.F.A. van Vugt, Paul J. Hop, Ramona A. J. Zwamborn, Niek de Klein, Harm-Jan Westra, Olivier B. Bakker, Patrick Deelen, Gemma Shireby, Eilís Hannon, Matthieu Moisse, Denis Baird, Restuadi Restuadi, Egor Dolzhenko, Annelot M. Dekker, Klara Gawor, Henk‐Jan Westeneng, Gijs H.P. Tazelaar, Kristel R. van Eijk, Maarten Kooyman, Ross P. Byrne, Mark A. Doherty, Mark Heverin, Ahmad Al Khleifat, Alfredo Iacoangeli, Aleksey Shatunov, Nicola Ticozzi, Johnathan Cooper‐Knock, Bradley Smith, Marta Gromicho, Siddharthan Chandran, Suvankar Pal, Karen Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Michael Sendtner, Thomas Meyer, Nazlı Başak, Anneke J. van der Kooi, Antonia Ratti, Isabella Fogh, Cinzia Gellera, Giuseppe Lauria, Stefania Corti, Cristina Cereda, Daisy Sproviero, Sandra D’Alfonso, Gianni Sorarù, Gabriele Siciliano, Massimiliano Filosto, Alessandro Padovani, Adriano Chió, Andrea Calvo, Cristina Moglia, Maura Brunetti, Antonio Canosa, Maurizio Grassano, Ettore Beghi, Elisabetta Pupillo, Giancarlo Logroscino, Beatrice Nefussy, Alma Osmanovic, Angelica Nordin, Yossef Lerner, Michal Zabari, Marc Gotkine, Robert H. Baloh, Shaughn Bell, Patrick Vourc’h, Philippe Corcia, Philippe Couratier, Stéphanie Millecamps, Vincent Meininger, François Salachas, Jesus S. Mora Pardina, Abdelilah Assialioui, Ricardo Rojas-García, Patrick A. Dion, Jay P. Ross, Albert C. Ludolph, Jochen H. Weishaupt, Dávid Brenner, Axel Freischmidt, Gilbert Bensimon, Alexis Brice, Alexandra Durr, C. Payán, Safa Saker-Delye, Nicholas Wood, Simon Topp, Rosa Rademakers, Lukas Tittmann, Wolfgang Lieb, André Franke, Stephan Ripke, Alice Braun, Julia Kraft

    Pubblicazione 2021
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  13. 13
    Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

    Genetic correlation between amyotrophic lateral sclerosis and schizophrenia di Russell L. McLaughlin, Dick Schijven, Wouter van Rheenen, Kristel R. van Eijk, Margaret O’Brien, René S. Kahn, Roel A. Ophoff, An Goris, Daniel G. Bradley, Ammar Al‐Chalabi, Leonard H. van den Berg, Jurjen J. Luykx, Orla Hardiman, Jan H. Veldink, Aleksey Shatunov, Annelot M. Dekker, Frank P. Diekstra, Sara L. Pulit, Rick A. A. van der Spek, Perry T.C. van Doormaal, William Sproviero, Ashley Jones, Garth A. Nicholson, Dominic B. Rowe, Roger Pamphlett, Matthew C. Kiernan, Denis C. Bauer, Tim Kahlke, Kelly L. Williams, Filip Eftimov, Isabella Fogh, Nicola Ticozzi, Kuang Lin, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Jesús S. Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Susanne Petri, Susanna Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Martina Wiedau‐Pazos, Catherine Lomen‐Hoerth, Vivianna M. Van Deerlin, John Q. Trojanowski, Lauren Elman, Leo McCluskey, Nazlı Başak, Thomas Meitinger, Peter Lichtner, Milena Blagojevic-Radivojkov, Christian Andrés, Cindy Maurel, Gilbert Bensimon, G. Bernhard Landwehrmeyer, Alexis Brice, Christine Payan, Safa Saker-Delye, Alexandra Dürr, Nicholas Wood, Lukas Tittmann, Wolfgang Lieb, André Franke, Marcella Rietschel, Sven Cichon, Markus M. Nöuthen, Philippe Amouyel, Christophe Tzourio, Jean François Dartigues, André G. Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Anneke J. van der Kooi, Marianne de Visser, Markus Weber, Christopher E. Shaw, Bradley Smith, Orietta Pansarasa, Cristina Cereda, Roberto Del Bo, Giacomo P. Comi, Sandra D’Alfonso

    Pubblicazione 2017
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