Comparative gene expression profiling between human cultured myotubes and skeletal muscle tissue

by García-Martínez Cèlia, Mormeneo Emma, Nascimento Andres, Kussmann Martin, Colomer Jaume, Métairon Sylviane, Raymond Frederic, Gómez-Foix Anna M
Published 2010-02-01

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

by Juan-Mateu Jonàs, Rodríguez Maria, 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
Published 2012-10-01

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

by Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara–Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F., Kölbel, Heike, Roos, Andreas, Horvath, Rita, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Gilissen, Christian, Johari, Mridul, Laurie, Steven, Li, Shuang, Nelson, Isabelle, Paramonov, Ida, Peters, Sophia, Prasanth, Sivakumar, Robinson, Peter, Sablauskas, Karolis, Savarese, Marco, Steyaert, Wouter, van der Velde, Joeri K., Vitobello, Antonio, Baets, Jonathan, Beijer, Danique, Bonne, Gisèle, Cossins, Judith, Evangelista, Teresinha, Ferlini, Alessandra, Hackman, Peter, Hanna, Michael G., Houlden, Henry, Lau, Jarred, Lochmüller, Hanns, Macken, William L., Musacchia, Francesco, Nascimento, Andres, Natera-de Benito, Daniel, Nigro, Vincenzo, Piluso, Giulio, Pini, Veronica, Pitceathly, Robert D. S., Polavarapu, Kiran, Cruz, Pedro M. Rodriguez, Sarkozy, Anna, Selvatici, Rita, Thompson, Rachel, Torella, Annalaura, Udd, Bjarne, Van de Vondel, Liedewei, Vandrovcova, Jana, Zaharieva, Irina
Published 2021

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

by Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L, Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra BT, Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García-Cazorla, Angels, Gross, Claudia, O'Callaghan, Maria, Santra, Saikat, Preece, Maryanne A, Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Thompson, Kyle, Navas, Placido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez-Mallebrera, Cecilia, Taylor, Robert W, Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C, Roos, Andreas, Horvath, Rita
Published 2019

Retrospective natural history of thymidine kinase 2 deficiency.

by Garone, Caterina, Taylor, Robert W, Nascimento, Andrés, Poulton, Joanna, Fratter, Carl, Domínguez-González, Cristina, Evans, Julie C, Loos, Mariana, Isohanni, Pirjo, Suomalainen, Anu, Ram, Dipak, Hughes, M Imelda, McFarland, Robert, Barca, Emanuele, Lopez Gomez, Carlos, Jayawant, Sandeep, Thomas, Neil D, Manzur, Adnan Y, Kleinsteuber, Karin, Martin, Miguel A, Kerr, Timothy, Gorman, Grainne S, Sommerville, Ewen W, Chinnery, Patrick F, Hofer, Monika, Karch, Christoph, Ralph, Jeffrey, Cámara, Yolanda, Madruga-Garrido, Marcos, Domínguez-Carral, Jana, Ortez, Carlos, Emperador, Sonia, Montoya, Julio, Chakrapani, Anupam, Kriger, Joshua F, Schoenaker, Robert, Levin, Bruce, Thompson, John LP, Long, Yuelin, Rahman, Shamima, Donati, Maria Alice, DiMauro, Salvatore, Hirano, Michio
Published 2019

International retrospective natural history study of LMNA-related congenital muscular dystrophy.

by Ben Yaou, Rabah, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D'Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Muntoni, Francesco, Pierson, Tyler M, Gómez-Andrés, David, Reghan Foley, A, Quijano-Roy, Susana, Bönnemann, Carsten G, Bonne, Gisèle
Published 2021