Expanded King–Denborough phenotype and congenital myopathy in two brothers with RYR1 mutation
Munell, F, Sanchez-Montáñez, A, Quijano-Roy, S, Gratacos, M, Martinez-Saez, E, Ferrer Aparicio, S, Gomez Garcia de la Banda, M, Urreizti, R, Grinberg, D
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
Two recent pediatric cases of severe polio-like paralysis caused by enterovirus D68 infection in Spain
Gomez-Garcia de la Banda, M, Julia, N, Felipe, A, Sanchez-Montañez, A, Balcells, J, Pujol, M, Soler, P, Rodrigo, C, Floriano, B, Lopez, J, Macaya, A, Munell, F
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
MYASTHENIA & RELATED DISORDERS: P.34 Congenital myasthenic syndrome in two Egyptian siblings due to a novel low-expressor AChR epsilon subunit mutation
de la Banda, M. Gomez Garcia, Fahmi, N., Sternberg, D., Blondy, P., Quijano-Roy, S., Malfatti, E.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
Get full text
Journal Article
MYASTHENIA & RELATED DISORDERS
de la Banda, M. Gomez Garcia, Fahmi, N., Sternberg, D., Blondy, P., Quijano-Roy, S., Malfatti, E.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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
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
SMA CLINICAL DATA
Quijano-Roy, S., Gaume, M., Saudeau, E., de la Banda, M. Gomez-Garcia, Azzi-Salameh, V., Mbieleu, B., Verollet, D., Barnerias, C., Benezit, A., Dabaj, I., Essid, A., Doehring, I., Amthor, H., Oulhissane, A., Carlier, R., Desguerre, I., Bergounioux, J., Glorion, C., Miladi, L.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
Get full text
Journal Article
SMA – OUTCOME MEASURES AND REGISTRIES
de la Banda, M. Gomez Garcia, Grimaldi-Bensouda, L., Urtizberea, J., Behin, A., Vuillerot, C., Saugier-Veber, P., Audic, F., Barnerias, C., Cances, C., Campana-Salort, E., Espil, C., Laforet, P., Laugel, V., Pereon, Y., Sacconi, S., Stojkovic, T., Tard, C., Chabrol, B., Desguerre, I., Quijano-Roy, S.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
Get full text
Journal Article
SMA – OUTCOME MEASURES AND REGISTRIES: EP.267 "Registry - SMA France: one year after launching the National French registry on SMA
de la Banda, M. Gomez Garcia, Grimaldi-Bensouda, L., Urtizberea, J., Behin, A., Vuillerot, C., Saugier-Veber, P., Audic, F., Barnerias, C., Cances, C., Campana-Salort, E., Espil, C., Laforet, P., Laugel, V., Pereon, Y., Sacconi, S., Stojkovic, T., Tard, C., Chabrol, B., Desguerre, I., Quijano-Roy, S.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
Get full text
Journal Article
SMA CLINICAL DATA: EP.252 Minimally invasive fusionless surgery for scoliosis in spinal muscular atrophy: long-term follow-up results in a series of 59 children
Quijano-Roy, S., Gaume, M., Saudeau, E., de la Banda, M. Gomez-Garcia, Azzi-Salameh, V., Mbieleu, B., Verollet, D., Barnerias, C., Benezit, A., Dabaj, I., Essid, A., Doehring, I., Amthor, H., Oulhissane, A., Carlier, R., Desguerre, I., Bergounioux, J., Glorion, C., Miladi, L.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
Get full text
Journal Article
P.256Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome
Gomez Garcia de la Banda, M., Natera-De Benito, D., Dabaj, I., Ben Yaou, R., Ortez, C., Wahbi, K., Maldonado, S., Clarke, N., Carlier, R., Colomer, J., Bonne, G., Nascimento, A., Monges, M., Quijano-Roy, S.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
Get full text
Journal Article
SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES: P.186 ``Registre-SMA France'': a national registry of patients with spinal muscular atrophy (SMA)
Gomez-Garcia de la Banda, M., Grimaldi, L., Urtizberea, J., Behin, A., Vuillerot, C., Saugier-Veber, P., Audic, F., Barnerias, C., Cances, C., Campana-Salort, E., Spil, C., Laforet, P., Laugel, V., Pereon, Y., Sacconi, S., Stojkovic, T., Tard, C., Chabrol, B., Desguerre, I., Quijano-Roy, S.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
Get full text
Journal Article
SMA – THERAPY: P.267 Minimally invasive fusionless surgery offers satisfactory early and definitive treatment for scoliosis in SMA children: Our experience over a decade
Gaume, M., Saudeau, E., de la Banda, M. Gomez Garcia, Azzi-Salameh, V., Barnerias, C., Benezit, A., Dabaj, I., Essid, A., Gitiaux, C., Haegy, I., Mbieleu, B., Sauvagnac, R., Verollet, D., Carlier, R., Bergounioux, J., Desguerre, I., Topouchian, V., Quijano-Roy, S., Miladi, L., Glorion, C.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
Get full text
Journal Article
SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES
Gomez-Garcia de la Banda, M., Grimaldi, L., Urtizberea, J., Behin, A., Vuillerot, C., Saugier-Veber, P., Audic, F., Barnerias, C., Cances, C., Campana-Salort, E., Spil, C., Laforet, P., Laugel, V., Pereon, Y., Sacconi, S., Stojkovic, T., Tard, C., Chabrol, B., Desguerre, I., Quijano-Roy, S.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
Get full text
Journal Article
SMA – THERAPY
Gaume, M., Saudeau, E., de la Banda, M. Gomez Garcia, Azzi-Salameh, V., Barnerias, C., Benezit, A., Dabaj, I., Essid, A., Gitiaux, C., Haegy, I., Mbieleu, B., Sauvagnac, R., Verollet, D., Carlier, R., Bergounioux, J., Desguerre, I., Topouchian, V., Quijano-Roy, S., Miladi, L., Glorion, C.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
Get full text
Journal Article
P.127 - Phenotypic heterogeneity in patients with mutations in the IGHMBP2 gene
Gomez-Garcia de la Banda, M., Felipe-Rucian, A., Gomez, D., Gratacos, M., Sanchez-Montañez, A., Gran, F., Bernal, S., Tizzano, E., Gamez, J., Munell, F.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
Get full text
Journal Article
Phenotypic heterogeneity in patients with mutations in the IGHMBP2 gene
Gomez-Garcia de la Banda, M., Felipe-Rucian, A., Gomez, D., Gratacos, M., Sanchez-Montañez, A., Gran, F., Bernal, S., Tizzano, E., Gamez, J., Munell, F.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
Get full text
Journal Article
P.163 - Expanded King–Denborough phenotype and congenital myopathy in two brothers with RYR1 mutation
Munell, F., Sanchez-Montáñez, A., Quijano-Roy, S., Gratacos, M., Martinez-Saez, E., Ferrer Aparicio, S., Gomez Garcia de la Banda, M., Urreizti, R., Grinberg, D.
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
SMA THERAPIES I
Gomez Garcia de la Banda, M., Doré, B., Bénézit, A., Dabaj, I., Mbieleu, B., Pruvost, S., Felter, A., Thiry, T., Tirolien, S., Dupont, P., Bocassin, C., Essid, A., Durigneux, L., Cances, C., Servais, L., Haegy, I., Bergounioux, J., Desguerre, I., Carlier, R., Quijano-Roy, S.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
Get full text
Journal Article
SMA THERAPIES I: P.172Retrospective study in children with SMA treated by intrathecal Nusinersen
Gomez Garcia de la Banda, M., Doré, B., Bénézit, A., Dabaj, I., Mbieleu, B., Pruvost, S., Felter, A., Thiry, T., Tirolien, S., Dupont, P., Bocassin, C., Essid, A., Durigneux, L., Cances, C., Servais, L., Haegy, I., Bergounioux, J., Desguerre, I., Carlier, R., Quijano-Roy, S.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
Get full text
Journal Article