Visualitza per autor "Munell Casadesus, Francina"
Ara mostrant els elements 1-4 d 4
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Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Domínguez-Gonzalez, C.; Madruga‑Garrido, Marcos; Hirano, Michio; Martí, Itxaso; Martín, Miguel A.; Munell Casadesus, Francina; Martí Seves, Ramón (BMC, 2021-10-02) -
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Blasco Perez, Laura; Costa Roger, Mar; Leno Colorado, Jorge; Bernal, Sara; Alias, Laura; Codina Solà, Marta; Martínez Cruz, Desirée; Sotoca Fernández, Javier; Juntas Morales, Raul; Costa Comellas, Laura; Munell Casadesus, Francina; Cuscó Martín, Ivon; Tizzano Ferrari, Eduardo Fidel (MDPI, 2022-07-27) -
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus)
Pitarch Castellano, Inmaculada; Cabrera-Serrano, Macarena; Calvo Medina, Rocío; Cattinari, María Grazia; Espinosa García, Sandra; Fernández Ramos, Joaquín Alejandro; Gómez Andrés, David; Munell Casadesus, Francina (Elsevier, 2022-04) -
Spinal Muscular Atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons
Sansa, Alba; Hidalgo, Ivan; Miralles, Maria P.; de la Fuente, Sandra; Pérez García, Maria Jose; Munell Casadesus, Francina (BMC, 2021-07-03)