Jordi Díaz-Manera (J Diaz-Manera, Jordi Diaz-Manera)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 31

Top Venues

European journal of neurology

Muscle & nerve

Journal of neurology

Journal of cachexia, sarcopenia and muscle

This page only lists publications with an associated author ORCID identifier.

Publications

Marianela Schiava, Robert Muni Lofra, John P Bourke, Jordi Díaz-Manera, Meredith K James, Maha A Elseed, Monika Malinova, Jassi Michel-Sodhi, Dionne Moat, Elisabetta Ghimenton, Michelle Mccallum, Carla Florencia Bolaño Díaz, Anna Mayhew, Karen Wong, Mark Richardson, Giorgio Tasca, Gail Eglon, Michelle Eagle, Catherine Turner, Emma Heslop, Volker Straub, Chiara Marini Bettolo, Michela Guglieri
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids. European journal of neurology (2024)
Diana Esteller, Marianela Schiava, José Verdú-Díaz, Rocío-Nur Villar-Quiles, Boris Dibowski, Nadia Venturelli, Pascal Laforet, Jorge Alonso-Pérez, Montse Olive, Cristina Domínguez-González, Carmen Paradas, Beatriz Vélez, Anna Kostera-Pruszczyk, Biruta Kierdaszuk, Carmelo Rodolico, Kristl Claeys, Endre Pál, Edoardo Malfatti, Sarah Souvannanorath, Alicia Alonso-Jiménez, Willem de Ridder, Eline De Smet, George Papadimas, Constantinos Papadopoulos, Sofia Xirou, Sushan Luo, Nuria Muelas, Juan J Vilchez, Alba Ramos-Fransi, Mauro Monforte, Giorgio Tasca, Bjarne Udd, Johanna Palmio, Srtuhi Sri, Sabine Krause, Benedikt Schoser, Roberto Fernández-Torrón, Adolfo López de Munain, Elena Pegoraro, Maria Elena Farrugia, Mathias Vorgerd, Georgious Manousakis, Jean Baptiste Chanson, Aleksandra Nadaj-Pakleza, Hakan Cetin, Umesh Badrising, Jodi Warman-Chardon, Jorge Bevilacqua, Nicholas Earle, Mario Campero, Jorge Díaz, Chiseko Ikenaga, Thomas E Lloyd, Ichizo Nishino, Yukako Nishimori, Yoshihiko Saito, Yasushi Oya, Yoshiaki Takahashi, Atsuko Nishikawa, Ryo Sasaki, Chiara Marini-Bettolo, Michela Guglieri, Volker Straub, Tanya Stojkovic, Robert Y Carlier, Jordi Díaz-Manera
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis. Journal of neurology (2024)
Benedikt Schoser, Nadine A M E van der Beek, Alexander Broomfield, Esther Brusse, Jordi Díaz-Manera, Andreas Hahn, Thomas Hundsberger, Cornelia Kornblum, Michelle Kruijshaar, Pascal Laforêt, Eugen Mengel, Tiziana Mongini, David Orlikowski, Giancarlo Parenti, W W M Pim Pijnappel, Mark Roberts, Thomas Scherer, Antonio Toscano, John Vissing, Johanna M P van den Hout, Pieter A van Doorn, Stephan Wenninger, Ans T van der Ploeg
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024. European journal of neurology (2024)
Benedikt Schoser, Nadine A M E van der Beek, Alexander Broomfield, Esther Brusse, Jordi Díaz-Manera, Andreas Hahn, Thomas Hundsberger, Cornelia Kornblum, Michelle Kruijshaar, Pascal Laforêt, Eugen Mengel, Tiziana Mongini, David Orlikowski, Giancarlo Parenti, W W M Pim Pijnappel, Mark Roberts, Thomas Scherer, Antonio Toscano, John Vissing, Johanna M P van den Hout, Pieter A van Doorn, Stephan Wenninger, Ans T van der Ploeg
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024. European journal of neurology 31 (9) (2024)
Benedikt Schoser, Nadine A M E van der Beek, Alexander Broomfield, Esther Brusse, Jordi Díaz-Manera, Andreas Hahn, Thomas Hundsberger, Cornelia Kornblum, Michelle Kruijshaar, Pascal Laforêt, Eugen Mengel, Tiziana Mongini, David Orlikowski, Giancarlo Parenti, W W M Pim Pijnappel, Mark Roberts, Thomas Scherer, Antonio Toscano, John Vissing, Johanna M P van den Hout, Pieter A van Doorn, Stephan Wenninger, Ans T van der Ploeg
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024. European journal of neurology 31 (9) (2024)
Marianela Schiava, Robert Muni Lofra, John P Bourke, Jordi Díaz-Manera, Meredith K James, Maha A Elseed, Monika Malinova, Jassi Michel-Sodhi, Dionne Moat, Elisabetta Ghimenton, Michelle Mccallum, Carla Florencia Bolaño Díaz, Anna Mayhew, Karen Wong, Mark Richardson, Giorgio Tasca, Gail Eglon, Michelle Eagle, Catherine Turner, Emma Heslop, Volker Straub, Chiara Marini Bettolo, Michela Guglieri
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids. European journal of neurology 31 (6) (2024)
Marianela Schiava, Robert Muni Lofra, John P Bourke, Jordi Díaz-Manera, Meredith K James, Maha A Elseed, Monika Malinova, Jassi Michel-Sodhi, Dionne Moat, Elisabetta Ghimenton, Michelle Mccallum, Carla Florencia Bolaño Díaz, Anna Mayhew, Karen Wong, Mark Richardson, Giorgio Tasca, Gail Eglon, Michelle Eagle, Catherine Turner, Emma Heslop, Volker Straub, Chiara Marini Bettolo, Michela Guglieri
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids. European journal of neurology 31 (6) (2024)
Benedikt Schoser, Nadine A M E van der Beek, Alexander Broomfield, Esther Brusse, Jordi Díaz-Manera, Andreas Hahn, Thomas Hundsberger, Cornelia Kornblum, Michelle Kruijshaar, Pascal Laforêt, Eugen Mengel, Tiziana Mongini, David Orlikowski, Giancarlo Parenti, W W M Pim Pijnappel, Mark Roberts, Thomas Scherer, Antonio Toscano, John Vissing, Johanna M P van den Hout, Pieter A van Doorn, Stephan Wenninger, Ans T van der Ploeg
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024. European journal of neurology 31 (9) (2024)
Sarah E Robinson, Andrew R Findlay, Shan Li, Feng Wang, Marianela Schiava, Jil Daw, Jordi Díaz-Manera, Tsui-Fen Chou, Conrad C Weihl
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1. Neurology. Genetics 10 (5) (2024)
Diana Esteller, Marianela Schiava, Rocío-Nur Villar-Quiles, Boris Dibowski, Nadia Venturelli, Pascal Laforet, Jorge Alonso-Pérez, Montse Olive, Cristina Domínguez-González, Carmen Paradas, Beatriz Vélez, Anna Kostera-Pruszczyk, Biruta Kierdaszuk, Carmelo Rodolico, Kristl Claeys, Endre Pál, Edoardo Malfatti, Sarah Souvannanorath, Alicia Alonso-Jiménez, Willem de Ridder, Eline De Smet, George Papadimas, Constantinos Papadopoulos, Sofia Xirou, Sushan Luo, Nuria Muelas, Juan J Vilchez, Alba Ramos-Fransi, Mauro Monforte, Giorgio Tasca, Bjarne Udd, Johanna Palmio, Srtuhi Sri, Sabine Krause, Benedikt Schöser, Roberto Fernández-Torrón, Adolfo López de Munain, Elena Pegoraro, Maria Elena Farrugia, Mathias Vorgerd, Georgious Manousakis, Jean Baptiste Chanson, Aleksandra Nadaj-Pakleza, Hakan Cetin, Umesh Badrising, Jodi Warman-Chardon, Jorge Bevilacqua, Nicholas Earle, Mario Campero, Jorge Díaz, Chiseko Ikenaga, Thomas E Lloyd, Ichizo Nishino, Yukako Nishimori, Yoshihiko Saito, Yasushi Oya, Yoshiaki Takahashi, Atsuko Nishikawa, Ryo Sasaki, Chiara Marini-Bettolo, Michela Guglieri, Volker Straub, Tanya Stojkovic, Robert Y Carlier, Jordi Díaz-Manera
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis. Journal of neurology (2023)
Xavier Suárez-Calvet, Esther Fernández-Simón, Daniel Natera-de Benito, Cristina Jou, Patricia Pinol-Jurado, Elisa Villalobos, Carlos Ortez, Alexandra Monceau, Marianela Schiava, Anna Codina, Jose Verdu-Diaz, James Clark, Zoe Laidler, Priyanka Mehra, Rasya Gokul-Nath, Jorge Alonso-Perez, Chiara Marini-Bettolo, Giorgio Tasca, Volker Straub, Michela Guglieri, Andrés Nascimento, Jordi Díaz-Manera
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations. Cell death & disease 14 (9) (2023)
Javier Poyatos-García, Pilar Martí, Alessandro Liquori, Nuria Muelas, Inmaculada Pitarch Castellano, Luis Martínez Dolz, Benjamin Rodríguez, Lidia Gonzalez-Quereda, Maria Damiá, Elena Aller, Marta Selva-Gimenez, Roger Vilchez, Jordi Díaz-Manera, Jorge Alonso-Pérez, José Eulalio Barcena, Amaia Jauregui, Josep Gamez, Jesus Angel Aladrén, Ariadna Fernández, Marisol Montolio, Inmaculada Azorin, Antonio José Cañada-Martínez, Ana Casasús, Marisa Nieto, Pia Gallano, Teresa Sevilla, Juan Jesus Vilchez
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. Annals of neurology 92 (5) (2022)
Rodrigo Álvarez-Velasco, Claudia Alejandra Nuñez-Peralta, Jorge Alonso-Pérez, Eduard Gallardo, Roger Collet-Vidiella, David Reyes-Leiva, Elba Pascual-Goñi, Lorena Martín-Aguilar, Marta Caballero-Ávila, Álvaro Carbayo-Viejo, Jaume Llauger-Roselló, Jordi Díaz-Manera, Montse Olivé
High prevalence of paraspinal muscle involvement in adults with McArdle disease. Muscle & nerve 65 (5) (2022)
Marianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, Marta Caballero-Ávila, Ana Topf, Ichizo Nishino, Virginia Kimonis, Bjarne Udd, Benedikt Schoser, Edmar Zanoteli, Paulo Victor Sgobbi de Souza, Giorgio Tasca, Thomas Lloyd, Adolfo Lopez-de Munain, Carmen Paradas, Elena Pegoraro, Aleksandra Nadaj-Pakleza, Jan De Bleecker, Umesh Badrising, Alicia Alonso-Jiménez, Anna Kostera-Pruszczyk, Francesc Miralles, Jin-Hong Shin, Jorge Alfredo Bevilacqua, Montse Olivé, Matthias Vorgerd, Rudi Kley, Stefen Brady, Timothy Williams, Cristina Domínguez-González, George K Papadimas, Jodi Warman-Chardon, Kristl G Claeys, Marianne de Visser, Nuria Muelas, Pascal LaForet, Edoardo Malfatti, Lindsay N Alfano, Sruthi S Nair, Georgios Manousakis, Hani A Kushlaf, Matthew B Harms, Christopher Nance, Alba Ramos-Fransi, Carmelo Rodolico, Channa Hewamadduma, Hakan Cetin, Jorge García-García, Endre Pál, Maria Elena Farrugia, Phillipa J Lamont, Colin Quinn, Velina Nedkova-Hristova, Stojan Peric, Su-Shan Luo, Anders Oldfors, Kate Taylor, Stuart Ralston, Tanya Stojkovic, Conrad C Weihl, Jordi Díaz-Manera, null null, null null
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. Journal of neurology, neurosurgery, and psychiatry (2022)
Ursula Moore, Roberto Fernandez-Torron, Marni B Jacobs, Heather Gordish-Dressman, Jordi Díaz-Manera, Meredoith K James, Anna G Mayhew, Elizabeth Harris, Michela Guglieri, Laura E Rufibach, Jia Feng, Andrew M Blamire, Pierre G Carlier, Simone Spuler, John W Day, Kristi J Jones, Diana X Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Linda Pax Lowes, Jerry R Mendell, Kate Bushby, null null, John Bourke, Volker Straub
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study. Muscle & nerve 65 (5) (2022)
Jorge Alonso-Pérez, Juan Carlos de León Hernández, Helena Pérez-Pérez, María Dolores Mendoza-Grimón, Antonio José Gutierrez-Martinez, Ioanna Hadjigeorgiou, Fernando Montón-Álvarez, Lidia González-Quereda, Alicia Alonso-Jiménez, Xavier Suárez-Calvet, Jordi Díaz-Manera
Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands. European journal of neurology 29 (5) (2022)
Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, Heather Gordish-Dressman, Fiona E Smith, Ian Wilson, Meredith James, Anna Mayhew, Laura Rufibach, John W Day, Kristi J Jones, Diana X Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R Mendell, null null, Kate Bushby, Andrew M Blamire, Volker Straub, Pierre G Carlier, Jordi Díaz-Manera
Water T2 could predict functional decline in patients with dysferlinopathy. Journal of cachexia, sarcopenia and muscle (2022)
Esther Fernández-Simón, Xavier Suárez-Calvet, Ana Carrasco-Rozas, Patricia Piñol-Jurado, Susana López-Fernández, Gemma Pons, Joan Josep Bech Serra, Carolina de la Torre, Noemí de Luna, Eduard Gallardo, Jordi Díaz-Manera
RhoA/ROCK2 signalling is enhanced by PDGF-AA in fibro-adipogenic progenitor cells: implications for Duchenne muscular dystrophy. Journal of cachexia, sarcopenia and muscle 13 (2) (2022)
Cristina Domínguez-González, Roberto Fernández-Torrón, Ursula Moore, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Beatriz Vélez-Gómez, Juan Antonio Cabezas, Jorge Alonso-Pérez, Laura González-Mera, Montse Olivé, Jorge García-García, Germán Moris, Juan Carlos León Hernández, Nuria Muelas, Emilia Servian-Morilla, Miguel A Martin, Jordi Díaz-Manera, Carmen Paradas
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis. Journal of neurology 269 (7) (2022)
Jeffrey M Statland, Craig Campbell, Urvi Desai, Chafic Karam, Jordi Díaz-Manera, Jeffrey T Guptill, Lawrence Korngut, Angela Genge, Rabi N Tawil, Lauren Elman, Nanette C Joyce, Kathryn R Wagner, Georgios E Manousakis, Anthony A Amato, Russell J Butterfield, Perry B Shieh, Matthew Wicklund, Josep Gamez, Cynthia Bodkin, Alan Pestronk, Conrad C Weihl, Juan J Vilchez-Padilla, Nicholas E Johnson, Katherine D Mathews, Barry Miller, Ashley Leneus, Marcie Fowler, Marc van de Rijn, Kenneth M Attie
Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. Muscle & nerve 66 (1) (2022)
Matteo Garibaldi, Tommaso Filippo Nicoletti, Elisabetta Bucci, Laura Fionda, Luca Leonardi, Stefania Morino, Laura Tufano, Girolamo Alfieri, Antonio Lauletta, Gioia Merlonghi, Alessia Perna, Salvatore Rossi, Enzo Ricci, Jorge Alonso Perez, Tommaso Tartaglione, Antonio Petrucci, Elena Maria Pennisi, Marco Salvetti, Gary Cutter, Jordi Díaz-Manera, Gabriella Silvestri, Giovanni Antonini
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials. European journal of neurology (2021)
Marina Frasquet, Ricardo Rojas-García, Herminia Argente-Escrig, Juan Francisco Vázquez Costa, Nuria Muelas, Juan Jesus Vilchez, Rafael Sivera, Elvira Millet, Marisa Barreiro, Jordi Díaz-Manera, Janina Turon-Sans, Elena Cortés-Vicente, Luis Antonio Querol-Gutiérrez, Laura Ramírez-Jiménez, Dolores Martínez-Rubio, Ana Sánchez-Monteagudo, Carmen Espinós, Teresa Sevilla, Vincenzo Lupo
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation. European journal of neurology 28 (4) (2021)
Xavier Suárez-Calvet, Jorge Alonso-Pérez, Ivan Castellví, Ana Carrasco-Rozas, Esther Fernández-Simón, Carlos Zamora, Laura Martínez-Martínez, Alicia Alonso-Jiménez, Ricardo Rojas-García, Joana Turón, Luis Antonio Querol-Gutiérrez, Noemi de Luna, Ana Milena-Millan, Héctor Corominas, Diego Castillo, Elena Cortés-Vicente, Isabel Illa, Eduard Gallardo, Jordi Díaz-Manera
Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis. Neurology(R) neuroimmunology & neuroinflammation 7 (3) (2020)
Giulia Giacomucci, Mauro Monforte, Jordi Díaz-Manera, Karlien Mul, Roberto Fernández-Torrón, L Maggi, C Marini Bettolo, Julia Rebecka Dahlqvist, J Haberlova, Pilar Camaño, M Gros, Tommaso Tartaglione, L Cristiano, Simonetta Gerevini, P Calandra, G Deidda, Emiliano Giardina, Sabrina Sacconi, Volker Straub, John Vissing, Baziel G M van Engelen, Enzo Ricci, Giorgio Tasca
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging. European journal of neurology 27 (12) (2020)
Claudia Nuñez-Peralta, Jorge Alonso-Pérez, Jaume Llauger, Sonia Segovia, Paula Montesinos, Izaskun Belmonte, Irene Pedrosa, Elena Montiel, Alicia Alonso-Jiménez, Javier Sánchez-González, Antonio Martínez-Noguera, Isabel Illa, Jordi Díaz-Manera
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles. Journal of cachexia, sarcopenia and muscle 11 (4) (2020)
Gorka Fernández-Eulate, R Fernández-Torrón, A Guisasola, M T I Gaspar, Jordi Díaz-Manera, M Maneiro, M Zulaica, V Olasagasti, A F Formica, J B Espinal, M Ruiz, A Schlüter, A Pujol, J J Poza, A López de Munain
Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study. European journal of neurology 27 (8) (2020)
Jordi Díaz-Manera, Glenn Walter, Volker Straub
Skeletal muscle magnetic resonance imaging in Pompe disease. Muscle & nerve 63 (5) (2020)
John Vissing, Katherine Johnson, Ana Töpf, Shahriar Nafissi, Jordi Díaz-Manera, Vanessa M French, Roland F Schindler, Padmini Sarathchandra, Nicoline Løkken, Susanne Rinné, Max Freund, Niels Decher, Thomas Müller, Morten Duno, Thomas Krag, Thomas Brand, Volker Straub
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy. Annals of neurology 86 (6) (2019)
Ana Carrasco-Rozas, Esther Fernández-Simón, Maria Cinta Lleixà, Izaskun Belmonte, Irene Pedrosa-Hernandez, Elena Montiel-Morillo, Claudia Nuñez-Peralta, Jaume Llauger Rossello, Sonia Segovia, Noemí De Luna, Xavier Suarez-Calvet, Isabel Illa, null null, Jordi Díaz-Manera, Eduard Gallardo
Identification of serum microRNAs as potential biomarkers in Pompe disease. Annals of clinical and translational neurology 6 (7) (2019)
Ana M Siles, Eugenia Martínez-Hernández, Josefa Araque, Jordi Díaz-Manera, Ricard Rojas-Garcia, Eduard Gallardo, Isabel Illa, Francesc Graus, Luis Antonio Querol-Gutiérrez
Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies. Annals of clinical and translational neurology 5 (5) (2018)
Jordi Díaz-Manera, Javier Sotoca-Fernández, Alicia Alonso-Jiménez, María Eugenia Marzo, Eduard Gallardo, Sonia Segovia-Simón, Ana María Siles, Isabel Illa, Javier Pagonabarraga
Mcleod syndrome is a new cause of axial muscle weakness. Muscle & nerve (2018)

Jordi Díaz-Manera.css-eqlu8i{font-size:small;padding-left:4px;} (J Diaz-Manera, Jordi Diaz-Manera)

Publication Activity (10 Years)

Top Topics

Top Venues

Jordi Díaz-Manera (J Diaz-Manera, Jordi Diaz-Manera)