檢索結果 - Roberto Fernández‐Torrón
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Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy 由 Germán Morís, Libby Wood, Roberto Fernández‐Torrón, José Andrés González Coraspe, Chris Turner, David Hilton‐Jones, Fiona Norwood, Tracey Willis, Matt Parton, Mark Rogers, Simon Hammans, Mark Roberts, Elizabeth Househam, Maggie Williams, Hanns Lochmüller, Teresinha Evangelista
出版 2017Artigo -
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MYO-MRI diagnostic protocols in genetic myopathies 由 Jodi Warman‐Chardon, Jordi Díaz‐Manera, Giorgio Tasca, Carsten G. Bönnemann, David Gómez‐Andrés, Arend Heerschap, Eugenio Mercuri, Francesco Muntoni, Anna Pichiecchio, Enzo Ricci, Maggie C. Walter, Michael G. Hanna, Heinz Jungbluth, Jasper M. Morrow, Roberto Fernández‐Torrón, Bjarne Udd, John Vissing, Tarek Yousry, Susana Quijano-Roy, Volker Straub, Robert Carlier
出版 2019Revisão -
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Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia 由 Pablo Iruzubieta, David Pellerin, Alberto Bergareche, Inés Albájar, Elisabet Mondragón, Ana Vinagre‐Aragón, Roberto Fernández‐Torrón, Fermín Moreno, Jon Equiza, David Campo‐Caballero, Juan José Poza, M. Ruibal, Alessandro Formica, Marie‐Josée Dicaire, Matt C. Danzi, Stephan Züchner, Ioana Croitoru, Montserrat Ruíz, Agatha Schlüter, Carlos Casasnovas, Aurora Pujol, Bernard Brais, Henry Houlden, Adolfo López de Munaín, Javier Ruiz‐Martínez
出版 2023Artigo -
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Late-onset thymidine kinase 2 deficiency: a review of 18 cases 由 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
出版 2019Revisão -
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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb... 由 Katherine Johnson, Marta Bértoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera‐Pruszczyk, Anna Potulska‐Chromik, Nicolas Deconinck, Carina Wallgren‐Pettersson, Sonja Strang‐Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández‐Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmuş, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub
出版 2018Artigo -
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Clinical and therapeutic features of myasthenia gravis in adults based on age at onset 由 Elena Cortés‐Vicente, Rodrigo Álvarez‐Velasco, Sonia Segovia, Carmen Paradas, Carlos Casasnovas, A. Guerrero-Solá, Julio Pardo, Alba Ramos‐Fransí, Teresa Sevilla, Adolfo López de Munaín, María Teresa Gómez‐Casares, Ivonne Jericó, Gerardo Gutiérrez‐Gutiérrez, Ana L. Pelayo‐Negro, María Asunción Martín, María Dolores Mendoza, Germán Morís, Ricard Rojas‐García, Jordi Díaz‐Manera, Luís Querol, Eduard Gallardo, Beatriz Gómez, Maria Alberti, Lucía Galán, Tania García‐Sobrino, Alicia Martínez‐Piñeiro, Ana Lozano-Veintimilla, Roberto Fernández‐Torrón, Ángel Cano-Abascal, Isabel Illa
出版 2020Artigo -
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Analysis of the<i>CHCHD10</i>gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain 由 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
出版 2015Carta -
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Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study 由 S. Figueroa-Bonaparte, Jaume Llauger, Sonia Segovia, Izaskun Belmonte, Irene Pedrosa, Elena Montiel, Paula Montesinos, Javier Sánchez‐González, Alicia Alonso‐Jiménez, Eduard Gallardo, Isabel Illa, Miguel Ángel Barba-Romero, Joseba Bárcena, Pilar Carbonell, María Rosario Carzorla, Carlota Creus, J Coll, Manuel Díaz, Cristina Domínguez‐González, Roberto Fernández‐Torrón, Maria José García-Antelo, Josep M. Grau, Adolfo López de Munaín, Francisco Antonio Martínez-García, Yolanda Blanco Morgado, Antonio Barranco Moreno, Germán Morís, Miguel Angel Muñoz-Blanco, A. Nascimento, J L Parajuá, Arturo Robledo-Strauss, I. Rojas-Marcos, Jose António Salazar, Mercedes Usón, Jordi Díaz‐Manera
出版 2018Artigo -
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Characteristics of Patients with Late- vs. Early-Onset Val30Met Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey (THAOS) 由 Márcia Waddington‐Cruz, Jonas Wixner, Leslie Amass, Jan Kiszko, Doug Chapman, Yukio Ando, Fábio Barroso, Marcelo Rugiero, Johan Van Cleemput, Ivaylo Tarnev, Theodoros Kyriakides, Arnt V. Kristen, Hartmut Schmidt, Felix Darstein, Burkhard Gess, Josep Maria Campistol Plana, Juan González Moreno, José González‐Costello, Pablo García Pavía, Roberto Fernández‐Torrón, Francisco Muñoz Beamud, Violaine Planté‐Bordeneuve, David B. Adams, Olivier Lairez, Claudio Rapezzi, Giampaolo Merlini, Marco Luigetti, Yoshiki Sekijima, Taro Yamashita, Sonoko Misawa, Soon-Chai Low, Hans L. A. Nienhuis, Teresa Coelho, Isabel Conceição, Rayomand Press, Yeşim Parman, Mathew S. Maurer, Stephen S. Gottlieb, Annabel Wang, Brian Drachman, Angela Dispenzieri, Saša Živković, Daniel J. Lenihan
出版 2021Artigo -
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Sex Differences in Wild-Type Transthyretin Amyloidosis: An Analysis from the Transthyretin Amyloidosis Outcomes Survey (THAOS) 由 Courtney Campbell, Samantha LoRusso, Angela Dispenzieri, Arnt V. Kristen, Mathew S. Maurer, Claudio Rapezzi, Olivier Lairez, Brian Drachman, Pablo García‐Pavía, Martha Grogan, Doug Chapman, Leslie Amass, Michele Emdin, Mazen Hanna, Olga Azevedo, Calogero Lino Cirami, Daniel Jacoby, José González‐Costello, David Slosky, H. Moelgaard, Scott L. Hummel, José Nativi-Nicolau, Srinivas Murali, Nowell M. Fine, Eun‐Seok Jeon, Sanjiv J. Shah, Ronald Witteles, Daniel J. Lenihan, Márcia Waddington‐Cruz, Yoshiki Sekijima, José Tallaj, Christopher R. Mueller, Johan Van Cleemput, Violaine Planté‐Bordeneuve, Hans L. A. Nienhuis, Dianna Quan, D. Eric Steidley, Hartmut Schmidt, Jonas Wixner, Michael Polydefkis, Jeffrey Ralph, Hector Ventura, Saša Živković, Burkhard Gess, Roberto Fernández‐Torrón, Stephen S. Gottlieb, William Cotts, James M. Tauras, Nitasha Sarswat, Juan González Moreno, Yeşim Parman, Jin Luo
出版 2022Artigo -
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Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials 由 Jordi Díaz‐Manera, Roberto Fernández‐Torrón, Jaume Llauger, M. James, Anna Mayhew, Fiona E. Smith, U. Moore, Andrew M. Blamire, Pierre G. Carlier, Laura Rufibach, Plavi Mittal, Michelle Eagle, Marni Jacobs, Tim Hodgson, Dorothy Wallace, Louise Ward, Mark D. Smith, Roberto Stramare, Alessandro Rampado, Noriko Sato, Takeshi Tamaru, Bruce Harwick, Susana Rico Gala, Suna Turk, Eva Coppenrath, Glenn Foster, David Bendahan, Yann Le Fur, Stanley T. Fricke, Hansel J. Otero, Sheryl Foster, Anthony Peduto, A. Sawyer, H. Hilsden, Hanns Lochmüller, Ulrike Grieben, Simone Spuler, Carolina Tesi Rocha, John Day, Kristi Jones, Diana Bharucha‐Goebel, Emmanuelle Salort‐Campana, Matthew Harms, Alan Pestronk, Sabine Krause, Olivia Schreiber‐Katz, Maggie C. Walter, Carmen Paradas, Jean‐Yves Hogrel, Tanya Stojkovic, Shin’ichi Takeda, Madoka Mori‐Yoshimura, Elena Bravver, Susan Sparks, Luca Bello, Claudio Semplicini, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub
出版 2018Artigo -
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy 由 Jorge Alonso‐Pérez, Lídia González-Quereda, Luca Bello, Michela Guglieri, Volker Straub, P. Gallano, Claudio Semplicini, Elena Pegoraro, Vittoria Zangaro, Andrés Nascimento, C. Ortez, Giacomo P. Comi, Leroy ten Dam, Marjolein Visser, Anneke J. van der Kooi, Cristina Garrido, Manuela Santos, Ulrike Schara, Andrea Gangfuß, Nicoline Løkken, J. Storgaard, John Vissing, Benedikt Schoser, Gabriele Dekomien, B. Udd, Johanna Palmio, Adele D'Amico, Luisa Politano, Vincenzo Nigro, Claudio Bruno, Chiara Panicucci, Anna Sárközy, Omar Abdel‐Mannan, Alicia Alonso‐Jiménez, Kristl G. Claeys, David Gómez‐Andrés, Francina Munell, Laura Costa-Comellas, Jana Haberlová, Marie Rohlenová, De Vos Elke, Jan De Bleecker, Cristina Domínguez‐González, Giorgio Tasca, Claudia Weiß, Nicolas Deconinck, Roberto Fernández‐Torrón, Adolfo López de Munaín, Ana Camacho, Béla Melegh, Kinga Hadzsiev, Lea Leonardis, Blaž Koritnik, Matteo Garibaldi, Juan C. de León-Hernández, Edoardo Malfatti, Arturo Fraga-Bau, Isabelle Richard, Isabel Illa, Jordi Díaz-Manera
出版 2020Artigo -
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Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey 由 Juan González‐Moreno, Angela Dispenzieri, Martha Grogan, Teresa Coelho, Ivailo Tournev, Márcia Waddington‐Cruz, Jonas Wixner, Igor Diemberger, Pablo García‐Pavía, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass, Violaine Planté‐Bordeneuve, Isabel Conceição, Eun‐Seok Jeon, Mathew S. Maurer, José González‐Costello, Olivier Lairez, Mitsuharu Ueda, Arnt V. Kristen, Yoshiki Sekijima, Brian Drachman, David Slosky, Anna Hüsing‐Kabar, Maria Alejandra Gonzalez Duarte Briseno, Miriam Freimer, Marco Luigetti, Daniel J. Lenihan, Michael Polydefkis, Mazen Hanna, Hans L. A. Nienhuis, Stephen S. Gottlieb, José Nativi Nicolau, Jocelyn Inamo, Michele Emdin, Olga Azevedo, Robert Brunkhorst, Edward J. Miller, Alberta L. Warner, Fábio Barroso, Rayomand Press, Scott L. Hummel, Francisco Muñoz Beamud, Anna Mazzeo, Luca Gentile, Soon-Chai Low, Sorina Bădeliţă, Dianna Quan, James M. Tauras, Saša Živković, Johan Van Cleemput, H. Moelgaard, Josep Maria Campistol Plana, Roberto Fernández‐Torrón, Nitasha Sarswat, Srinivas Murali, Christopher R. Mueller, Nowell M. Fine, Felix Darstein, David Adams, Amir Dori, Laura Obici, Calogero Lino Cirami, Sonoko Misawa, Sanjiv J. Shah, C. Tschoepe, Lucía Galán Dávila, Jeeyoung Oh, Yeşim Parman, Tessa Marburger, Jeffrey Ralph
出版 2023Artigo -
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Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update 由 Angela Dispenzieri, Teresa Coelho, Isabel Conceição, Márcia Waddington‐Cruz, Jonas Wixner, Arnt V. Kristen, Claudio Rapezzi, Violaine Planté‐Bordeneuve, Juan González‐Moreno, Mathew S. Maurer, Martha Grogan, Doug Chapman, Leslie Amass, Pablo García Pavía, Ivaylo Tarnev, José González‐Costello, Maria Alejandra Gonzalez Duarte Briseno, Hartmut Schmidt, Brian Drachman, Fábio Barroso, Taro Yamashita, Olivier Lairez, Yoshiki Sekijima, Giuseppe Vita, Eun‐Seok Jeon, Mazen Hanna, David Slosky, Marco Luigetti, Samantha LoRusso, Francisco Muñoz Beamud, David Adams, H. Moelgaard, Rayomand Press, Calogero Lino Cirami, Hans L. A. Nienhuis, Josep Maria Campistol Plana, Jocelyn Inamo, Daniel Jacoby, Michele Emdin, Dianna Quan, Scott L. Hummel, Ronald Witteles, Amir Dori, Sanjiv J. Shah, Daniel J. Lenihan, Olga Azevedo, Srinivas Murali, Saša Živković, Soon-Chai Low, José Nativi-Nicolau, Nowell M. Fine, José Tallaj, C. Tschoepe, Roberto Fernández‐Torrón, Michael Polydefkis, Giampaolo Merlini, Sorina Bădeliţă, Stephen S. Gottlieb, James M. Tauras, Edileide Barros Correia, Hector Ventura, Burkhard Gess, Felix Darstein, Jeeyoung Oh, Tessa Marburger, Johan Van Cleemput, Valeria Salutto, Yeşim Parman, Chi‐Chao Chao, Nitasha Sarswat, Christopher R. Mueller, D. Eric Steidley, Jeffrey Ralph, Alberta L. Warner, William Cotts, James E. Hoffman, Marcelo Rugiero, Sonoko Misawa, J.L. Muñoz Blanco, Lucía Galán Dávila, Menachem Sadeh, Jin Luo, Theodoros Kyriakides, Annabel Wang, Horacio Kaufmann, Saša Živković
出版 2022Artigo -
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Patients with transthyretin amyloidosis enrolled in THAOS between 2018 and 2021 continue to experience substantial diagnostic delay 由 Teresa Coelho, Angela Dispenzieri, Martha Grogan, Isabel Conceição, Márcia Waddington‐Cruz, Arnt V. Kristen, Jonas Wixner, Igor Diemberger, Juan González‐Moreno, Mathew S. Maurer, Violaine Planté‐Bordeneuve, Pablo García‐Pavía, Ivailo Tournev, José González‐Costello, Eve Cariou, Alejandra González‐Duarte, Oliver Glass, Doug Chapman, Leslie Amass, Anna Hüsing‐Kabar, Brian Drachman, Fábio Barroso, Mitsuharu Ueda, Yoshiki Sekijima, Anna Mazzeo, Luca Gentile, Eun‐Seok Jeon, David Slosky, Marco Luigetti, Mazen Hanna, Miriam Freimer, Francisco Muñoz-Beamud, David Adams, Henning Mølgaard, Rayomand Press, Hans L. A. Nienhuis, Calogero Lino Cirami, Michele Emdin, Edward J. Miller, Josep Maria Campistol Plana, Jocelyn Inamo, Dianna Quan, Scott L. Hummel, Amir Dori, Ronald Witteles, Sanjiv J. Shah, Daniel J. Lenihan, Olga Azevedo, Cheng‐Yin Tan, Srinivas Murali, Saša Živković, Edileide de Barros Correia, José Nativi Nicolau, José Tallaj, Nowell M. Fine, Carsten Tschöpe, Roberto Fernández‐Torrón, Michael Polydefkis, Laura Obici, Sorina Bădeliţă, Stephen S. Gottlieb, James M. Tauras, Hector Ventura, Robert Brunkhorst, Felix Darstein, Jeeyoung Oh, Tessa Marburger, Christopher R. Mueller, Johan Van Cleemput, Valeria Salutto, Yeşim Parman, Chi‐Chao Chao, N. Sarswat, Alberta L. Warner, D. Eric Steidley, Jeffrey Ralph, William Cotts, James E. Hoffman, Marcelo Rugiero, Sonoko Misawa, José Luís Muñoz-Blanco, Lucía Galán Dávila, Menachem Sadeh, Jin Luo, Theodoros Kyriakides, Annabel Wang, Horacio Kaufmann
出版 2023Artigo -
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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness 由 Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina England, Kristen M. Laricchia, T. Mullen, Elise Valkanas, Liwen Xu, Marta Bértoli, A. Blain, Ana Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso‐Pérez, Jonathan Baets, Nina Barišić, Alexandra Bastian, S. Borell, Teodora Chamova, Kristl G. Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem De Ridder, Jordi Díaz‐Manera, Cristina Domínguez‐González, Alexis E. Duncan, Hacer Durmuş, Nagia Fahmy, Maria Elena Farrugia, Roberto Fernández‐Torrón, Lídia González-Quereda, Jana Haberlová, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, I. Jericó Pascual, Solange Kapetanovic, Viktorija Ķēniņa, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera‐Pruszczyk, R. Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munaín, Wolfgang N. Löscher, Anna Łusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, A. Nascimento, Shahriar Nafissi, Shirin Jamal Omidi, C. Ortez, Stéphanie Paquay, Yann Péréon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, I Sánchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang‐Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan J. Vílchez, Katharina Vill, John Vissing, Carina Wallgren‐Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub
出版 2020Artigo
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