CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2

por Poyatos-García, Javier, Blázquez-Bernal, Águeda, Selva-Giménez, Marta, Bargiela, Ariadna, Espinosa-Espinosa, Jorge, Vázquez-Manrique, Rafael P., Bigot, Anne, Artero, Ruben, Vilchez, Juan Jesús
Publicado 2023

Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 Infection

por Diez-Fuertes, Francisco, López-Huertas, María Rosa, García-Pérez, Javier, Calonge, Esther, Bermejo, Mercedes, Mateos, Elena, Martí, Pilar, Muelas, Nuria, Vílchez, Juan Jesús, Coiras, Mayte, Alcamí, José, Rodríguez-Mora, Sara
Publicado 2022

The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection

por Rodríguez-Mora, Sara, De Wit, Flore, García-Perez, Javier, Bermejo, Mercedes, López-Huertas, María Rosa, Mateos, Elena, Martí, Pilar, Rocha, Susana, Vigón, Lorena, Christ, Frauke, Debyser, Zeger, Vílchez, Juan Jesús, Coiras, Mayte, Alcamí, José
Publicado 2019

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

por Ranu, Natasha, Laitila, Jenni, Dugdale, Hannah F., Mariano, Jennifer, Kolb, Justin S., Wallgren-Pettersson, Carina, Witting, Nanna, Vissing, John, Vilchez, Juan Jesus, Fiorillo, Chiara, Zanoteli, Edmar, Auranen, Mari, Jokela, Manu, Tasca, Giorgio, Claeys, Kristl G., Voermans, Nicol C., Palmio, Johanna, Huovinen, Sanna, Moggio, Maurizio, Beck, Thomas Nyegaard, Kontrogianni-Konstantopoulos, Aikaterini, Granzier, Henk, Ochala, Julien
Publicado 2022

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders

por van den Bersselaar, Luuk R., Heytens, Luc, Silva, Helga C. A., Reimann, Jens, Tasca, Giorgio, Díaz‐Cambronero, Óscar, Løkken, Nicoline, Hellblom, Anna, Hopkins, Philip M., Rueffert, Henrik, Bastian, Börge, Vilchez, Juan Jesus, Gillies, Robyn, Johannsen, Stephan, Veyckemans, Francis, Muenster, Tino, Klein, Andrea, Litman, Ron, Jungbluth, Heinz, Riazi, Sheila, Voermans, Nicol C., Snoeck, Marc M. J.
Publicado 2022

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

por Poyatos‐García, Javier, Martí, Pilar, Liquori, Alessandro, Muelas, Nuria, Pitarch, Inmaculada, Martinez‐Dolz, Luis, Rodríguez, Benjamin, Gonzalez‐Quereda, Lidia, Damiá, Maria, Aller, Elena, Selva‐Gimenez, Marta, Vilchez, Roger, Diaz‐Manera, Jordi, Alonso‐Pérez, Jorge, Barcena, José Eulalio, Jauregui, Amaia, Gámez, Josep, Aladrén, Jesus Angel, Fernández, Ariadna, Montolio, Marisol, Azorin, Inmaculada, Hervas, David, Casasús, Ana, Nieto, Marisa, Gallano, Pia, Sevilla, Teresa, Vilchez, Juan Jesus
Publicado 2022

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