Human SHBG mRNA Translation Is Modulated by Alternative 5′-Non-Coding Exons 1A and 1B

por Pinós, Tomàs, Barbosa-Desongles, Anna, Hurtado, Antoni, Santamaria-Martínez, Albert, de Torres, Inés, Reventós, Jaume, Munell, Francina
Publicado 2010

Diabetes Protects from Prostate Cancer by Downregulating Androgen Receptor: New Insights from LNCaP Cells and PAC120 Mouse Model

por Barbosa-Desongles, Anna, Hernández, Cristina, De Torres, Ines, Munell, Francina, Poupon, Marie-France, Simó, Rafael, Selva, David M.
Publicado 2013

Identification, characterization and expression of novel Sex Hormone Binding Globulin alternative first exons in the human prostate

por Pinós, Tomàs, Barbosa-Desongles, Anna, Hurtado, Antoni, Santamaria-Martínez, Albert, de Torres, Inés, Morote, Joan, Reventós, Jaume, Munell, Francina
Publicado 2009

Spinal Muscular Atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons

por Sansa, Alba, Hidalgo, Ivan, Miralles, Maria P., de la Fuente, Sandra, Perez-Garcia, M. Jose, Munell, Francina, Soler, Rosa M., Garcera, Ana
Publicado 2021

Estrogen Receptor Beta Displays Cell Cycle-Dependent Expression and Regulates the G1 Phase through a Non-Genomic Mechanism in Prostate Carcinoma Cells

por Hurtado, Antoni, Pinós, Tomàs, Barbosa-Desongles, Anna, López-Avilés, Sandra, Barquinero, Jordi, Petriz, Jordi, Santamaria-Martínez, Albert, Morote, Joan, de Torres, Inés, Bellmunt, Joaquim, Reventós, Jaume, Munell, Francina
Publicado 2008

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

por Domínguez-González, Cristina, Madruga-Garrido, Marcos, Hirano, Michio, Martí, Itxaso, Martín, Miguel A., Munell, Francina, Nascimento, Andrés, Olivé, Montse, Quan, Joanne, Sardina, M. Dolores, Martí, Ramon, Paradas, Carmen
Publicado 2021

Identification and characterization of new isoforms of human fas apoptotic inhibitory molecule (FAIM)

por Coccia, Elena, Calleja-Yagüe, Isabel, Planells-Ferrer, Laura, Sanuy, Blanca, Sanz, Belen, López-Soriano, Joaquin, Moubarak, Rana S., Munell, Francina, Barneda-Zahonero, Bruna, Comella, Joan X., Pérez-García, M. Jose
Publicado 2017

eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics

por Bosio, Mattia, Drechsel, Oliver, Rahman, Rubayte, Muyas, Francesc, Rabionet, Raquel, Bezdan, Daniela, Domenech Salgado, Laura, Hor, Hyun, Schott, Jean‐Jacques, Munell, Francina, Colobran, Roger, Macaya, Alfons, Estivill, Xavier, Ossowski, Stephan
Publicado 2019

A comprehensive study of skeletal muscle imaging in FHL1 ‐related reducing body myopathy

por Mohassel, Payam, Yun, Pomi, Syeda, Safoora, Batra, Abhinandan, Bradley, Andrew J., Donkervoort, Sandra, Monges, Soledad, Cohen, Julie S., Leung, Doris G., Munell, Francina, Ortez, Carlos, Sánchez‐Montáñez, Angel, Karachunski, Peter, Brandsema, John, Medne, Livija, Chaudhry, Vinay, Tasca, Giorgio, Foley, A. Reghan, Udd, Bjarne, Arai, Andrew E., Walter, Glenn A., Bönnemann, Carsten G.
Publicado 2023

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

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential no...

por Kalko, Susana Graciela, Paco, Sonia, Jou, Cristina, Rodríguez, Maria Angels, Meznaric, Marija, Rogac, Mihael, Jekovec-Vrhovsek, Maja, Sciacco, Monica, Moggio, Maurizio, Fagiolari, Gigliola, De Paepe, Boel, De Meirleir, Linda, Ferrer, Isidre, Roig-Quilis, Manel, Munell, Francina, Montoya, Julio, López-Gallardo, Ester, Ruiz-Pesini, Eduardo, Artuch, Rafael, Montero, Raquel, Torner, Ferran, Nascimento, Andres, Ortez, Carlos, Colomer, Jaume, Jimenez-Mallebrera, Cecilia
Publicado 2014

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

por Blasco-Pérez, Laura, Costa-Roger, Mar, Leno-Colorado, Jordi, Bernal, Sara, Alias, Laura, Codina-Solà, Marta, Martínez-Cruz, Desirée, Castiglioni, Claudia, Bertini, Enrico, Travaglini, Lorena, Millán, José M., Aller, Elena, Sotoca, Javier, Juntas, Raúl, Hoei-Hansen, Christina Engel, Moreno-Escribano, Antonio, Guillén-Navarro, Encarna, Costa-Comellas, Laura, Munell, Francina, Boronat, Susana, Rojas-García, Ricardo, Povedano, Mónica, Cuscó, Ivon, Tizzano, Eduardo F.
Publicado 2022

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

por Rodríguez Cruz, Pedro M., Cossins, Judith, de Paula Estephan, Eduardo, Munell, Francina, Selby, Kathryn, Hirano, Michio, Maroofin, Reza, Mehrjardi, Mohammad Yahya Vahidi, Chow, Gabriel, Carr, Aisling, Manzur, Adnan, Robb, Stephanie, Munot, Pinki, Wei Liu, Wei, Banka, Siddharth, Fraser, Harry, De Goede, Christian, Zanoteli, Edmar, Conti Reed, Umbertina, Sage, Abigail, Gratacos, Margarida, Macaya, Alfons, Dusl, Marina, Senderek, Jan, Töpf, Ana, Hofer, Monika, Knight, Ravi, Ramdas, Sithara, Jayawant, Sandeep, Lochmüller, Hans, Palace, Jacqueline, Beeson, David
Publicado 2019