Novel Homozygous Pathogenic Mutations of LAMA 2 Gene in Patients with Congen ital Muscular Dystrophy

por KHODAENIA, Negar, FARJAMI, Zahra, ASHNAEI, Amir Hosein, EBRAHIMI, Neshat, CHELVARFOROOSH, Navid, URTIZBEREA, Andoni, RAZMARA, Ehsan, HOUSHMAND, Massoud
Publicado 2021

Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements

por Jaxybayeva, Altynshash, Chunkayeva, Dana, Myrzaliyeva, Bakhytkul, Ayaganov, Dinmukhamed, Lepessova, Marzhan, Bulekbayeva, Sholpan, Idrissova, Zhannat, Mukhambetova, Gulnar, Bayanova, Mirgul, Malfatti, Edoardo, Urtizberea, Andoni
Publicado 2023

The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD

por Gargaun, Elena, Falcone, Sestina, Solé, Guilhem, Durigneux, Julien, Urtizberea, Andoni, Cuisset, Jean Marie, Benkhelifa-Ziyyat, Sofia, Julien, Laura, Boland, Anne, Sandron, Florian, Meyer, Vincent, Deleuze, Jean François, Salgado, David, Desvignes, Jean-Pierre, Béroud, Christophe, Chessel, Anatole, Blesius, Alexia, Krahn, Martin, Levy, Nicolas, Leturcq, France, Pietri-Rouxel, France
Publicado 2021

Current management of Duchenne muscular dystrophy in the Middle East: expert report

por Jumah, Mohammed Al, Muhaizea, Mohammad Al, Rumayyan, Ahmed Al, Saman, Abdulaziz Al, Shehri, Ali Al, Cupler, Edward, Jan, Mohammed, Madani, Abubaker Al, Fathalla, Waseem, Kashyape, Pawan, Kodavooru, Gururaj, Thihli, Khalid Al, Bastaki, Laila, Megarbane, Andre, Skrypnyk, Cristina, Zamani, Gholamreza, Tuffery-Giraud, Sylvie, Urtizberea, Andoni, Ortez González, Carlos Ignacio
Publicado 2019

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

por Palmio, Johanna, Leonard-Louis, Sarah, Sacconi, Sabrina, Savarese, Marco, Penttilä, Sini, Semmler, Anna-Lena, Kress, Wolfram, Mozaffar, Tahseen, Lai, Tim, Stojkovic, Tanya, Berardo, Andres, Reisin, Ricardo, Attarian, Shahram, Urtizberea, Andoni, Cobo, Ana Maria, Maggi, Lorenzo, Kurbatov, Sergei, Nikitin, Sergei, Milisenda, José C., Fatehi, Farzad, Raimondi, Monika, Silveira, Fernando, Hackman, Peter, Claeys, Kristl G., Udd, Bjarne
Publicado 2019

High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

por Torelli, Silvia, Scaglioni, Domenic, Sardone, Valentina, Ellis, Matthew J, Domingos, Joana, Jones, Adam, Feng, Lucy, Chambers, Darren, Eastwood, Deborah M, Leturcq, France, Yaou, Rabah Ben, Urtizberea, Andoni, Sabouraud, Pascal, Barnerias, Christine, Stojkovic, Tanya, Ricci, Enzo, Beuvin, Maud, Bonne, Gisele, Sewry, Caroline A, Willis, Tracey, Kulshrestha, Richa, Tasca, Giorgio, Phadke, Rahul, Morgan, Jennifer E, Muntoni, Francesco
Publicado 2021

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

por Dogan, Celine, De Antonio, Marie, Hamroun, Dalil, Varet, Hugo, Fabbro, Marianne, Rougier, Felix, Amarof, Khadija, Arne Bes, Marie-Christine, Bedat-Millet, Anne-Laure, Behin, Anthony, Bellance, Remi, Bouhour, Françoise, Boutte, Celia, Boyer, François, Campana-Salort, Emmanuelle, Chapon, Françoise, Cintas, Pascal, Desnuelle, Claude, Deschamps, Romain, Drouin-Garraud, Valerie, Ferrer, Xavier, Gervais-Bernard, Helene, Ghorab, Karima, Laforet, Pascal, Magot, Armelle, Magy, Laurent, Menard, Dominique, Minot, Marie-Christine, Nadaj-Pakleza, Aleksandra, Pellieux, Sybille, Pereon, Yann, Preudhomme, Marguerite, Pouget, Jean, Sacconi, Sabrina, Sole, Guilhem, Stojkovich, Tanya, Tiffreau, Vincent, Urtizberea, Andoni, Vial, Christophe, Zagnoli, Fabien, Caranhac, Gilbert, Bourlier, Claude, Riviere, Gerard, Geille, Alain, Gherardi, Romain K., Eymard, Bruno, Puymirat, Jack, Katsahian, Sandrine, Bassez, Guillaume
Publicado 2016