Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

por Rodríguez, M. A., Del Rio Barquero, Luís M., Ortez, Carlos I., Jou, Cristina, Vigo, Meritxell, Medina, Julita, Febrer, Anna, Ramon-Krauel, Marta, Diaz-Manera, Jorge, Olive, Montse, González-Mera, Laura, Nascimento, Andres, Jimenez-Mallebrera, Cecilia
Publicado 2017

Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

por Domínguez-González, Cristina, Fernández-Torrón, Roberto, Moore, Ursula, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Vélez-Gómez, Beatriz, Cabezas, Juan Antonio, Alonso-Pérez, Jorge, González-Mera, Laura, Olivé, Montse, García-García, Jorge, Moris, Germán, León Hernández, Juan Carlos, Muelas, Nuria, Servian-Morilla, Emilia, Martin, Miguel A., Díaz-Manera, Jordi, Paradas, Carmen
Publicado 2022

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

por Juan-Mateu, Jonàs, Rodríguez, Maria José, Nascimento, Andrés, Jiménez-Mallebrera, Cecilia, González-Quereda, Lidia, Rivas, Eloy, Paradas, Carmen, Madruga, Marcos, Sánchez-Ayaso, Pedro, Jou, Cristina, González-Mera, Laura, Munell, Francina, Roig-Quilis, Manuel, Rabasa, Maria, Hernández-Lain, Aurelio, Díaz-Manera, Jorge, Gallardo, Eduard, Pascual, Jordi, Verdura, Edgard, Colomer, Jaume, Baiget, Montserrat, Olivé, Montse, Gallano, Pia
Publicado 2012

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

por Gonzalez-Quereda, Lidia, Rodriguez, Maria Jose, Diaz-Manera, Jordi, Alonso-Perez, Jorge, Gallardo, Eduard, Nascimento, Andres, Ortez, Carlos, Natera-de Benito, Daniel, Olive, Montse, Gonzalez-Mera, Laura, Lopez de Munain, Adolfo, Zulaica, Miren, Poza, Juan Jose, Jerico, Ivonne, Torne, Laura, Riera, Pau, Milisenda, Jose, Sanchez, Aurora, Garrabou, Gloria, Llano, Isabel, Madruga-Garrido, Marcos, Gallano, Pia
Publicado 2020