P431 Steroid treatment may change natural history in congenital laminopathies
Garcia, M Gomez, Garcia-Uzquiano, R., Le Goff, L., Manel, V., Dabaj, I., Mercier, S., Ben Yaou, R., Bonne, G., Carlier, R., Quijano-Roy, S.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
Get full text
Journal Article
188P Easy neurocognitive and social evaluation could detect abnormal neurodevelopment in SMA Type 1
Molinero, M. Alvarez, Pires, N., Uzquiano, R. Garcia, de la Banda, M. Gómez Garcia, Comellas, L. Costa, Expósito, L. Ventura, Casadesús, F. Munell, Benezit, A., Andrés, D. Gómez, Roy, S. Quijano
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
Get full text
Journal Article
128P Treatment with gene therapy in patients with spinal muscular atrophy. current experience in CuidAME registry
Exposito Escudero, J., Costa Comellas, L., García Romero, M., Toledo Bravo De Laguna, L., Gomez Martin, H., Calvo Medina, R., Navarro Abia, V., Ñungo Garzón, C., Martinez Gonzalez, M., Martínez Salcedo, E., Grimalt Calatayud, M., Martínez González, M., Álvarez Molinero, M., Fernández García, M., Puig Ram, C., Garcia Uzquiano, R., Hervás, D., Nascimento Osorio, A.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
Get full text
Journal Article
190P Spectrum of phenotypes in SMA patients with four SMN2 copies in France (Registre SMA France)
Banda, M. Gomez Garcia De La, Gerin, L., Ropars, J., Garcia-Uzquiano, R., Saugier-Veber, P., Desguerre, I., Salort-Campana, E., Espil, C., Barnerias, C., Laugel, V., Cances, C., Audic, F., Cintas, P., Tard, C., Goff, L. Le, Dieterich, K., Drunat, S., Grimaldi, L., Quijano-Roy, S.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
Get full text
Journal Article
117P Prevalence of neurodevelopmental anomalies in patients with Spinal Muscular Atrophy Type I registered in CUIDAME
Alvarez Molinero, M., Gómez Andrés, D., Garcia Uzquiano, R., Expósito Escudero, J., Costa Comellas, L., Garcia Romero, M., Martinez Salcedo, E., Nungo Garzón, C., Grimalt Calatayud, M., Lopez Lobato, M., Munell Casadesús, F., Fernández Ramos, J., Calzada Garcia-Mora, C., Gómez Martín, H., Calvo, R., Toledo Bravo de Laguna, L., González Barrios, D., Navarrio Abia, V., Fernández Garcia, M.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
Get full text
Journal Article
P.51 Real-world experience after one year treating SMA children with risdiplam
de la Banda, M. Gomez Garcia, Garcia-Uzquiano, R., Benezit, A., Davion, J., Dabaj, I., Amthor, H., Bouadi, A., Spigarelli, M., Bocassin, C., Tirolien, S., Villart, M., Sonnet, L., Grimaldi-Bensouda, L., Quijano-Roy, S.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
Get full text
Journal Article
117P Prevalence of neurodevelopmental anomalies in patients with Spinal Muscular Atrophy Type I registered in CUIDAME
Alvarez Molinero, M., Gómez Andrés, D., Garcia Uzquiano, R., Expósito Escudero, J., Costa Comellas, L., Garcia Romero, M., Martinez Salcedo, E., Nungo Garzón, C., Grimalt Calatayud, M., Lopez Lobato, M., Munell Casadesús, F., Fernández Ramos, J., Calzada Garcia-Mora, C., Gómez Martín, H., Calvo, R., Toledo Bravo de Laguna, L., González Barrios, D., Navarrio Abia, V., Fernández Garcia, M.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
Get full text
Journal Article
183P CuidAME: The Spanish longitudinal Registry of SMA patients. A global view in 2024
Osorio, A. Nascimento, Uzquiano, R. García, Puig, C., Fernandez, M., Ñungo, N., Exposito, J., Calvo, R., Alvarez, M., Lopez, M., Martinez, E., Grimalt, M., Fernandez, J., Navarro, V., Urbano, M., Martinez, M., Gonzalez, D., Sariego, A., Sardina, M., Marti, I.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
Get full text
Journal Article
202P Descriptive analysis of the spinal muscular atrophy population treated with Nusinersen included in the CuidAME project
Fernandez, J. Sotoca, Puig, C., García-Uzquiano, R., García-Romero, M., Pitarch-Castellanos, I., Vázquez-Costa, J., Paradas, C., Povedano, M., Gómez-Caravaca, M., Álvarez-Molinuevo, M., Gómez-Andrés, D., Munell, F., Grimalt, M., Calvo, R., Henao, M., Jericó, I., Fernández-García, M.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
Get full text
Journal Article