Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients

por Reyes-Leiva, David, Alonso-Pérez, Jorge, Mayos, Mercedes, Nuñez-Peralta, Claudia, Llauger, Jaume, Belmonte, Izaskun, Pedrosa-Hernández, Irene, Segovia, Sonia, Díaz-Manera, Jordi
Publicado 2021

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function

por Figueroa-Bonaparte, Sebastián, Segovia, Sonia, Llauger, Jaume, Belmonte, Izaskun, Pedrosa, Irene, Alejaldre, Aída, Mayos, Mercè, Suárez-Cuartín, Guillermo, Gallardo, Eduard, Illa, Isabel, Díaz-Manera, Jordi
Publicado 2016

Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease

por Alonso-Jiménez, Alicia, Nuñez-Peralta, Claudia, Montesinos, Paula, Alonso-Pérez, Jorge, García, Carme, Montiel, Elena, Belmonte, Izaskun, Pedrosa, Irene, Segovia, Sonia, Llauger, Jaume, Díaz-Manera, Jordi
Publicado 2021

Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study

por Figueroa-Bonaparte, Sebastian, Llauger, Jaume, Segovia, Sonia, Belmonte, Izaskun, Pedrosa, Irene, Montiel, Elena, Montesinos, Paula, Sánchez-González, Javier, Alonso-Jiménez, Alicia, Gallardo, Eduard, Illa, Isabel, Díaz-Manera, Jordi
Publicado 2018

Follow‐up of late‐onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles

por Nuñez‐Peralta, Claudia, Alonso‐Pérez, Jorge, Llauger, Jaume, Segovia, Sonia, Montesinos, Paula, Belmonte, Izaskun, Pedrosa, Irene, Montiel, Elena, Alonso‐Jiménez, Alicia, Sánchez‐González, Javier, Martínez‐Noguera, Antonio, Illa, Isabel, Díaz‐Manera, Jordi
Publicado 2020

PDGF-BB serum levels are decreased in adult onset Pompe patients

por Fernández-Simón, Esther, Carrasco-Rozas, Ana, Gallardo, Eduard, Figueroa-Bonaparte, Sebastián, Belmonte, Izaskun, Pedrosa, Irene, Montiel, Elena, Suárez-Calvet, Xavier, Alonso-Pérez, Jorge, Segovia, Sonia, Nuñez-Peralta, Claudia, Llauger, Jaume, Mayos, Mercedes, Illa, Isabel, Díaz-Manera, Jordi
Publicado 2019

Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests

por Nuñez-Peralta, Claudia, Montesinos, Paula, Alonso-Jiménez, Alicia, Alonso-Pérez, Jorge, Reyes-Leiva, David, Sánchez-González, Javier, Llauger-Roselló, Jaume, Segovia, Sonia, Belmonte, Izaskun, Pedrosa, Irene, Martínez-Noguera, Antonio, Matellini-Mosca, Briano, Walter, Glenn, Díaz-Manera, Jordi
Publicado 2021

Corrigendum: Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests

por Nuñez-Peralta, Claudia, Montesinos, Paula, Alonso-Jiménez, Alicia, Alonso-Pérez, Jorge, Reyes-Leiva, David, Sánchez-González, Javier, Llauger-Roselló, Jaume, Segovia, Sonia, Belmonte, Izaskun, Pedrosa, Irene, Martínez-Noguera, Antonio, Matellini-Mosca, Briano, Walter, Glenn, Díaz-Manera, Jordi
Publicado 2021

Identification of serum microRNAs as potential biomarkers in Pompe disease

por Carrasco‐Rozas, Ana, Fernández‐Simón, Esther, Lleixà, Maria Cinta, Belmonte, Izaskun, Pedrosa-Hernandez, Irene, Montiel-Morillo, Elena, Nuñez‐Peralta, Claudia, Llauger Rossello, Jaume, Segovia, Sonia, De Luna, Noemí, Suarez‐Calvet, Xavier, Illa, Isabel, Díaz‐Manera, Jordi, Gallardo, Eduard
Publicado 2019

Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies

por Alonso-Jiménez, Alicia, Fernández-Simón, Esther, Natera-de Benito, Daniel, Ortez, Carlos, García, Carme, Montiel, Elena, Belmonte, Izaskun, Pedrosa, Irene, Segovia, Sonia, Piñol-Jurado, Patricia, Carrasco-Rozas, Ana, Suárez-Calvet, Xavier, Jimenez-Mallebrera, Cecilia, Nascimento, Andrés, Llauger, Jaume, Nuñez-Peralta, Claudia, Montesinos, Paula, Alonso-Pérez, Jorge, Gallardo, Eduard, Illa, Isabel, Díaz-Manera, Jordi
Publicado 2021

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

por Sivera, Rafael, Frasquet, Marina, Lupo, Vincenzo, García-Sobrino, Tania, Blanco-Arias, Patricia, Pardo, Julio, Fernández-Torrón, Roberto, de Munain, Adolfo López, Márquez-Infante, Celedonio, Villarreal, Liliana, Carbonell, Pilar, Rojas-García, Ricard, Segovia, Sonia, Illa, Isabel, Frongia, Anna Lia, Nascimento, Andrés, Ortez, Carlos, García-Romero, María del Mar, Pascual, Samuel Ignacio, Pelayo-Negro, Ana Lara, Berciano, José, Guerrero, Antonio, Casasnovas, Carlos, Camacho, Ana, Esteban, Jesús, Chumillas, María José, Barreiro, Marisa, Díaz, Carmen, Palau, Francesc, Vílchez, Juan Jesús, Espinós, Carmen, Sevilla, Teresa
Publicado 2017

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

por Wood, Libby, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura Cecilia, Dai, Yi, Dawkins, Hugh, Manera, Jorge Alberto Diaz, Dogan, Celine, el Sherif, Rasha, Fossati, Barbara, Graham, Caroline, Hilbert, James, Kastreva, Kristinia, Kimura, En, Korngut, Lawrence, Kostera-Pruszczyk, Anna, Lindberg, Christopher, Lindvall, Bjorn, Luebbe, Elizabeth, Lusakowska, Anna, Mazanec, Radim, Meola, Giovani, Orlando, Liannna, Takahashi, Masanori P., Peric, Stojan, Puymirat, Jack, Rakocevic-Stojanovic, Vidosava, Rodrigues, Miriam, Roxburgh, Richard, Schoser, Benedikt, Segovia, Sonia, Shatillo, Andriy, Thiele, Simone, Tournev, Ivailo, van Engelen, Baziel, Vohanka, Stanislav, Lochmüller, Hanns
Publicado 2018

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

por Wood, Libby, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura Cecilia, Dai, Yi, Dawkins, Hugh, Díaz-Manera, Jordi, Dogan, Celine, el Sherif, Rasha, Fossati, Barbara, Graham, Caroline, Hilbert, James, Kastreva, Kristinia, Kimura, En, Korngut, Lawrence, Kostera-Pruszczyk, Anna, Lindberg, Christopher, Lindvall, Bjorn, Luebbe, Elizabeth, Lusakowska, Anna, Mazanec, Radim, Meola, Giovani, Orlando, Liannna, Takahashi, Masanori P., Peric, Stojan, Puymirat, Jack, Rakocevic-Stojanovic, Vidosava, Rodrigues, Miriam, Roxburgh, Richard, Schoser, Benedikt, Segovia, Sonia, Shatillo, Andriy, Thiele, Simone, Tournev, Ivailo, van Engelen, Baziel, Vohanka, Stanislav, Lochmüller, Hanns
Publicado 2019