Quantifiable diagnosis of muscular dystrophies and neurogenic atrophies through network analysis

por Sáez, Aurora, Rivas, Eloy, Montero-Sánchez, Adoración, Paradas, Carmen, Acha, Begoña, Pascual, Alberto, Serrano, Carmen, Escudero, Luis M
Publicado 2013

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

por Mavillard, Fabiola, Madruga‐Garrido, Marcos, Rivas, Eloy, Servián‐Morilla, Emilia, Ávila‐Polo, Rainiero, Marcos, Irene, Morón, Francisco J., Paradas, Carmen, Cabrera‐Serrano, Macarena
Publicado 2019

Identification of VRK1 as a New Neuroblastoma Tumor Progression Marker Regulating Cell Proliferation

por Colmenero-Repiso, Ana, Gómez-Muñoz, María A., Rodríguez-Prieto, Ismael, Amador-Álvarez, Aida, Henrich, Kai-Oliver, Pascual-Vaca, Diego, Okonechnikov, Konstantin, Rivas, Eloy, Westermann, Frank, Pardal, Ricardo, Vega, Francisco M.
Publicado 2020

Neural crest derived progenitor cells contribute to tumor stroma and aggressiveness in stage 4/M neuroblastoma

por Linares-Clemente, Pedro, Aguilar-Morante, Diana, Rodríguez-Prieto, Ismael, Ramírez, Gema, de Torres, Carmen, Santamaría, Vicente, Pascual-Vaca, Diego, Colmenero-Repiso, Ana, Vega, Francisco M., Mora, Jaume, Cabello, Rosa, Márquez, Catalina, Rivas, Eloy, Pardal, Ricardo
Publicado 2017

Desmin Modulates Muscle Cell Adhesion and Migration

por Hakibilen, Coralie, Delort, Florence, Daher, Marie-Thérèse, Joanne, Pierre, Cabet, Eva, Cardoso, Olivier, Bourgois-Rocha, Fany, Tian, Cuixia, Rivas, Eloy, Madruga, Marcos, Ferreiro, Ana, Lilienbaum, Alain, Vicart, Patrick, Agbulut, Onnik, Hénon, Sylvie, Batonnet-Pichon, Sabrina
Publicado 2022

Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

por Paco, Sonia, Kalko, Susana G., Jou, Cristina, Rodríguez, María A., Corbera, Joan, Muntoni, Francesco, Feng, Lucy, Rivas, Eloy, Torner, Ferran, Gualandi, Francesca, Gomez-Foix, Anna M., Ferrer, Anna, Ortez, Carlos, Nascimento, Andrés, Colomer, Jaume, Jimenez-Mallebrera, Cecilia
Publicado 2013

Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

por Paco, Sonia, Kalko, Susana G., Jou, Cristina, Rodríguez, María A., Corbera, Joan, Muntoni, Francesco, Feng, Lucy, Rivas, Eloy, Torner, Ferran, Gualandi, Francesca, Gomez-Foix, Anna M., Ferrer, Anna, Ortez, Carlos, Nascimento, Andrés, Colomer, Jaume, Jimenez-Mallebrera, Cecilia
Publicado 2015

Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

por Segarra-Casas, Alba, Domínguez-González, Cristina, Hernández-Laín, Aurelio, Sanchez-Calvin, Maria Teresa, Camacho, Ana, Rivas, Eloy, Campo-Barasoain, Andrea, Madruga, Marcos, Ortez, Carlos, Natera-de Benito, Daniel, Nascimento, Andrés, Codina, Anna, Rodriguez, Maria Jose, Gallano, Pia, Gonzalez-Quereda, Lidia
Publicado 2023

Sex Hormone Receptor Expression in Craniopharyngiomas and Association with Tumor Aggressiveness Characteristics

por Martínez-Ortega, Antonio, Flores-Martinez, Álvaro, Venegas-Moreno, Eva, Dios, Elena, Del Can, Diego, Rivas, Eloy, Kaen, Ariel, Cárdenas Ruiz-Valdepeñas, Eugenio, Fajardo, Elena, Roldán, Florinda, González-Rivera, Natividad, Oliva, Rosario, Fernández-Peña, José Ignacio, Soto-Moreno, Alfonso, Cano, David A.
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

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss

por Servián‐Morilla, Emilia, Takeuchi, Hideyuki, Lee, Tom V, Clarimon, Jordi, Mavillard, Fabiola, Area‐Gómez, Estela, Rivas, Eloy, Nieto‐González, Jose L, Rivero, Maria C, Cabrera‐Serrano, Macarena, Gómez‐Sánchez, Leonardo, Martínez‐López, Jose A, Estrada, Beatriz, Márquez, Celedonio, Morgado, Yolanda, Suárez‐Calvet, Xavier, Pita, Guillermo, Bigot, Anne, Gallardo, Eduard, Fernández‐Chacón, Rafael, Hirano, Michio, Haltiwanger, Robert S, Jafar‐Nejad, Hamed, Paradas, Carmen
Publicado 2016

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

por Domínguez-González, Cristina, Hernández-Laín, Aurelio, Rivas, Eloy, Hernández-Voth, Ana, Sayas Catalán, Javier, Fernández-Torrón, Roberto, Fuiza-Luces, Carmen, García García, Jorge, Morís, Germán, Olivé, Montse, Miralles, Frances, Díaz-Manera, Jordi, Caballero, Candela, Méndez-Ferrer, Bosco, Martí, Ramon, García Arumi, Elena, Badosa, María Carmen, Esteban, Jesús, Jimenez-Mallebrera, Cecilia, Encinar, Alberto Blazquez, Arenas, Joaquín, Hirano, Michio, Martin, Miguel Ángel, Paradas, Carmen
Publicado 2019

ETMR-22. TITLE: DEFINING THE CLINICAL AND PROGNOSTIC LANDSCAPE OF EMBRYONAL TUMORS WITH MULTI-LAYERED ROSETTES (ETMRs), A RARE BRAIN TUMOR REGISTRY (RBTC) STUDY

por Khan, Sara, Solano-Paez, Palma, Suwal, Tannu, Al-Karmi, Salma, Lu, Mei, Ho, Ben, Fouladi, Maryam, Leary, Sarah, Levy, Jean M Mulcahy, Lassaletta, Alvaro, Rivas, Eloy, Reddy, Alyssa, Gillespie, G Yancey, Gupta, Nalin, Yalon-Oren, Michal, Amariglio, Laura, Nakamura, Hideo, Wu, Kuo-Sheng, Wong, Tai-Tong, Ra, Young-Shin, Spina, Milena La, Emanuele, Policlinico Vittorio, Massimi, Luca, Buccoliero, Anna Maria, Hansford, Jordan R, Grundy, Richard G, Adamek, Dariusz, Fangusaro, Jason, Scharnhorst, David, Johnston, Donna, Lafay-Cousin, Lucie, Camelo-Piragua, Sandra, Kabbara, Nabil, Gajjar, Amar, Boutarbouch, Mahjouba, da Costa, Maria Joao Gil, Hanson, Derek, Wood, Paul, Al-Hussaini, Maysa, Amayiri, Nisreen, Wang, Yin, Catchpoole, Daniel, Michaud, Jean, Bendel, Anne E, Ellezam, Benjamin, Gerber, Nicholas, Plant, Ashley, Jeffery, Rubens, Dunham, Christopher, Moertel, Christopher, Walter, Andrew, Ziegler, David, Dodgshun, Andrew, Gottardo, Nicholas, Demir, Ahmet, Ramanujachar, Ramya, Raabe, Eric, Mary, Shago, Dirks, Peter, Taylor, Michael, Eugene, Hwang, Lindsey, Holly, Tihan, Tarik, Mette, Jorgensen, Dahl, Christine, Low, Sharon, Smith, Amy, Hazrati, Lili-Naz, Kresak, Jesse, Gino, Somers, Tan, Enrica, Morales, Andres, Santa-Maria, Vicente, Hawkins, Cynthia, Bartels, Ute, Stephens, Derek, Nobusawa, Sumihito, Dufour, Christelle, Bourdeaut, Franck, Andre, Nicolas, Bouffet, Eric, Huang, Annie
Publicado 2020