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09/02/2024 Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration
Piñol-Jurado, P, Verdú-Díaz, J, Fernández-Simón, E, Domínguez-González, C, Hernández-Lain, A, Lawless, C, Vincent, A, González-Chamorro, A, Villalobos, E, Monceau, A, Laidler, Z, Mehra, P, Clark, J, Filby, A, Mcdonald, D, Rushton, P, Bowey, A, Perez, JA, Tasca, G, Marini-Bettolo, C, Guglieri, M, Straub, V, Suarez-Calvet, X, Diaz-Manera, J. Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration. Scientific Reports. 2024; 14(1)DOI:10.1038/s41598-024-51906-x. PMID:38336890. IF:3.900(Q1/2D).
09/02/2024 Excellent response to anti-CD38 therapy with daratumumab in a patient with severe refractory CANOMAD
Pascual-Goñi, E, Collet, R, Tejada-Illa, C, Martín-Aguilar, L, Caballero-Avila, M, Lleixà, C, Novelli, S, López-Pardo, J, Sanfeliu, AE, Mariscal, A, Gargallo, YA, Martínez-Hernández, E, Cocho, D, Querol, L. Excellent response to anti-CD38 therapy with daratumumab in a patient with severe refractory CANOMAD. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2024; 95(7)DOI:10.1136/jnnp-2023-332443. PMID:38341197. IF:7.500(Q1/1D).
01/01/2024 Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases
Bolano-Diaz, C, Verdú-Díaz, J, Gonzalez-Chamorro, A, Fitzsimmons, S, Veeranki, G, Straub, V, Diaz-Manera, J. Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases. NEUROMUSCULAR DISORDERS. 2024; 34DOI:10.1016/j.nmd.2023.11.004. PMID:38007344. IF:2.800(Q2/5D).
01/01/2024 Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis (Journal of Neurology, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4)
Esteller D., Schiava M., Verdú-Díaz J., Villar-Quiles R.-N., Dibowski B., Venturelli N., Laforet P., Alonso-Pérez J., Olive M., Domínguez-González C., Paradas C., Vélez B., Kostera-Pruszczyk A., Kierdaszuk B., Rodolico C., Claeys K., Pál E., Malfatti E., Souvannanorath S., Alonso-Jiménez A., de Ridder W., De Smet E., Papadimas G., Papadopoulos C., Xirou S., Luo S., Muelas N., Vilchez J.J., Ramos-Fransi A., Monforte M., Tasca G., Udd B., Palmio J., Sri S., Krause S., Schoser B., Fernández-Torrón R., López de Munain A., Pegoraro E., Farrugia M.E., Vorgerd M., Manousakis G., Chanson J.B., Nadaj-Pakleza A., Cetin H., Badrising U., Warman-Chardon J., Bevilacqua J., Earle N., Campero M., Díaz J., Ikenaga C., Lloyd T.E., Nishino I., Nishimori Y., Saito Y., Oya Y., Takahashi Y., Nishikawa A., Sasaki R., Marini-Bettolo C., Guglieri M., Straub V., Stojkovic T., Carlier R.Y., Díaz-Manera J.. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis (Journal of Neurology, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4). JOURNAL OF NEUROLOGY. 2024; 271(4)DOI:10.1007/s00415-023-12178-z. PMID:38349561. IF:4.600(Q1/2D).
01/12/2023 Neurological adverse events related to immune-checkpoint inhibitors in Spain: a retrospective cohort study
Fonseca, E, Cabrera-Maqueda, JM, Ruiz-Garcia, R, Naranjo, L, Diaz-Pedroche, C, Velasco, R, Macias-Gomez, A, Milisenda, JC, Munoz-Farjas, E, Pascual-Goni, E, Perez-Larraya, JG, Saiz, A, Dalmau, J, Blanco, Y, Graus, F, Martinez-Hernandez, E. Neurological adverse events related to immune-checkpoint inhibitors in Spain: a retrospective cohort study. LANCET NEUROLOGY. 2023; 22(12)DOI:10.1016/S1474-4422(23)00335-6. PMID:37977714. IF:46.600(Q1/1D).
01/12/2023 Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
Bermejo-Guerrero, L, Fernández-de la Hoz, CPD, González-Quereda, L, Segarra-Casas, A, Nedkova, V, Gallano, P, Martín-Jiménez, P, Hernández-Laín, A, Olivé, M, Arteche-López, A, Domínguez-González, C. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients. NEUROMUSCULAR DISORDERS. 2023; 33(12)DOI:10.1016/j.nmd.2023.10.016. PMID:38016875. IF:2.700(Q2/4D).