All papers authored by Jordi Diaz-Manera
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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
and 51 other authors
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,
Montse Olive,
Cristina Domínguez-González,
Carmen Paradas,
Beatriz Vélez,
Anna Kostera-Pruszczyk,
Biruta Kierdaszuk,
Carmelo Rodolico
and 51 other authors
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Rafael Jenaro Martinez-Marin,
David Reyes-Leiva,
Andrés Nascimento,
Nuria Muelas,
C. Dominguez-González,
Carmen Paradas,
Montse Olivé,
Mar García-Romero,
Samuel Ignacio Pascual-Pascual,
Josep Maria Grau,
Miguel Angel Barba-Romero,
Maria Teresa Gomez-Caravaca,
Javier de las Heras,
Pilar Casquero,
Maria Dolores Mendoza
and 27 other authors
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
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Xavier Suárez-Calvet,
Daniel Natera de Benito,
Esther Fernández-Simón,
Daniel Natera ,
Cristina Jou,
Patricia Pinol-Jurado,
Elisa Villalobos ,
Carlos Ortez ,
Alexandra Monceau,
Marianela Schiava,
Anna Codina,
José Verdu-Díaz ,
James Clark,
Zoe Laidler,
Priyanka Mehra
and 8 other authors
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,
Cristina Jou,
Patricia Pinol-Jurado,
Elisa Villalobos ,
Carlos Ortez ,
Alexandra Monceau,
Marianela Schiava,
Anna Codina,
José Verdu-Díaz ,
James Clark,
Zoe Laidler,
Priyanka Mehra
and 8 other authors
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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
and 51 other authors
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,
Montse Olive,
Cristina Domínguez-González,
Carmen Paradas,
Beatriz Vélez,
Anna Kostera-Pruszczyk,
Biruta Kierdaszuk,
Carmelo Rodolico
and 51 other authors
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Laura Llansó,
Ursula Moore,
Carla Bolano-Diaz,
Meredith James,
Andrew M. Blamire ,
Pierre G. Carlier,
Laura Rufibach,
Heather Gordish-Dressman,
Georgina Boyle,
Heather Hilsden,
John W. Day,
Kristi J. Jones,
Diana X. Bharucha-Goebel,
Emmanuelle Salort-Campana,
Alan Pestronk
and 9 other authors
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,
Pierre G. Carlier,
Laura Rufibach,
Heather Gordish-Dressman,
Georgina Boyle,
Heather Hilsden,
John W. Day,
Kristi J. Jones,
Diana X. Bharucha-Goebel,
Emmanuelle Salort-Campana,
Alan Pestronk
and 9 other authors
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2022
Javier Poyatos‐García ,
Pilar Martí ,
Alessandro Liquori ,
Nuria Muelas ,
Inmaculada Pitarch ,
Luis Martinez‐Dolz ,
Benjamin Rodríguez,
Lidia Gonzalez‐Quereda ,
Maria Damiá ,
Elena Aller ,
Marta Selva‐Gimenez ,
Roger Vilchez,
Jordi Diaz‐Manera ,
Jorge Alonso‐Pérez ,
José Eulalio Barcena
and 12 other authors
,
Pilar Martí ,
Alessandro Liquori ,
Nuria Muelas ,
Inmaculada Pitarch ,
Luis Martinez‐Dolz ,
Benjamin Rodríguez,
Lidia Gonzalez‐Quereda ,
Maria Damiá ,
Elena Aller ,
Marta Selva‐Gimenez ,
Roger Vilchez,
Jordi Diaz‐Manera ,
Jorge Alonso‐Pérez ,
José Eulalio Barcena
and 12 other authors
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion
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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 Souza ,
Giorgio Tasca ,
Thomas Lloyd,
Adolfo Lopez-De Munain,
Carmen Paradas
and 46 other authors
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,
Chiseko Ikenaga,
Rocío Nur Villar-Quiles,
Marta Caballero-Ávila ,
Ana Topf,
Ichizo Nishino ,
Virginia Kimonis,
Bjarne Udd,
Benedikt Schoser,
Edmar Zanoteli ,
Paulo Victor Sgobbi Souza ,
Giorgio Tasca ,
Thomas Lloyd,
Adolfo Lopez-De Munain,
Carmen Paradas
and 46 other authors
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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
and 2 other authors
,
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
and 2 other authors
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
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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
,
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
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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‐Jimenez ,
Xavier Suárez‐Calvet,
Jordi Díaz‐Manera
Download from onlinelibrary.wiley.com
,
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‐Jimenez ,
Xavier Suárez‐Calvet,
Jordi Díaz‐Manera
Download from onlinelibrary.wiley.com
2021
Matteo Garibaldi ,
Tommaso 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
and 7 other authors
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,
Tommaso 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
and 7 other authors
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2020
Giulia Giacomucci ,
Mauro Monforte ,
Jordi Diaz‐Manera ,
Karlien Mul ,
Roberto Fernandez Torrón ,
Lorenzo Maggi,
Chiara Marini Bettolo,
Julia Rebecka Dahlqvist ,
Jana Haberlova,
Pilar Camaño ,
Marilyn Gros,
Tommaso Tartaglione ,
Lara Cristiano,
Simonetta Gerevini ,
Patrizia Calandra
and 8 other authors
,
Mauro Monforte ,
Jordi Diaz‐Manera ,
Karlien Mul ,
Roberto Fernandez Torrón ,
Lorenzo Maggi,
Chiara Marini Bettolo,
Julia Rebecka Dahlqvist ,
Jana Haberlova,
Pilar Camaño ,
Marilyn Gros,
Tommaso Tartaglione ,
Lara Cristiano,
Simonetta Gerevini ,
Patrizia Calandra
and 8 other authors
Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
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Xavier Suárez-Calvet ,
Jorge Alonso-Pérez ,
Ivan Castellví,
Ana Carrasco-Rozas,
Esther Fernández-Simón,
Carlos Zamora,
Noemi de Luna ,
Laura Martínez-Martínez,
Joana Turón,
Alicia Alonso-Jiménez,
Luis Querol ,
Ricardo Rojas-García ,
Ana Milena-Millan,
Héctor Corominas,
Diego Castillo
and 4 other authors
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,
Jorge Alonso-Pérez ,
Ivan Castellví,
Ana Carrasco-Rozas,
Esther Fernández-Simón,
Carlos Zamora,
Noemi de Luna ,
Laura Martínez-Martínez,
Joana Turón,
Alicia Alonso-Jiménez,
Luis Querol ,
Ricardo Rojas-García ,
Ana Milena-Millan,
Héctor Corominas,
Diego Castillo
and 4 other authors
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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
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,
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
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2019
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
and 2 other authors
,
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
and 2 other authors
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy
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A. Alonso-Jiménez ,
C. Ramón,
O. Dols-Icardo ,
C. Roig,
E. Gallardo,
J. Clarimón,
C. Núñez-Peralta,
J. Díaz-Manera
,
C. Ramón,
O. Dols-Icardo ,
C. Roig,
E. Gallardo,
J. Clarimón,
C. Núñez-Peralta,
J. Díaz-Manera
Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome
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