Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy

por Bosco, Luca, Leone, Daniela, Costa Comellas, Laura, Monforte, Mauro, Pane, Marika, Mercuri, Eugenio, Bertini, Enrico, D’Amico, Adele, Fattori, Fabiana
Publicado 2022

COVID-19 in children with neuromuscular disorders

por Natera-de Benito, Daniel, Aguilera-Albesa, Sergio, Costa-Comellas, Laura, García-Romero, Mar, Miranda-Herrero, María Concepción, Rúbies Olives, Júlia, García-Campos, Óscar, Martínez del Val, Elena, Martinez Garcia, Maria Josefa, Medina Martínez, Inmaculada, Cancho-Candela, Ramón, Fernandez-Garcia, Miguel A., Pascual-Pascual, Samuel Ignacio, Gómez-Andrés, David, Nascimento, Andres
Publicado 2021

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