Collins, C, Gokul-Nath, R, Katsikis, P, Fernández-Simón, E, Villalobos, E, Monceau, A, Reza, M, Mehra, P, Laidler, Z, Clark, J, Rojas-García, R, Tasca, G, Marini-Bettolo, C, Diaz-Manera, J. SnRNAseq analysis of muscle samples of patients with SMA reveals novel pathogenic pathways and open avenues for new therapeutic strategies. NEUROMUSCULAR DISORDERS. 2024; 43DOI:10.1016/j.nmd.2024.07.611. PMID:. IF:2.800(Q2/5D).

Hilsden, H, James, M, Dressman, HG, Rufibach, L, Day, J, Mendell, J, Torron, RF, Harms, M, Pestronk, A, Vissing, J, Desai, U, Yoshimura, M, Shin, J, Mozaffar, T, Stojkovic, T, Pegoraro, E, Rivas, JB, Olive, M, Paradas, C, Straub, V. The International Clinical Outcome Study for Dysferlinopathy II: validation of motor outcome measures in a new patient cohort. NEUROMUSCULAR DISORDERS. 2024; 43DOI:10.1016/j.nmd.2024.07.276. PMID:. IF:2.800(Q2/5D).

Marín, RM, Leiva, DR, Osorio, AN, Muelas, N, Domínguez, C, Marcos, IR, Paradas, C, Olivé, M, Matas, A, Caravaca, MG, Romero, MB, Mendoza, M, de León, J, Gutiérrez, A, Rabasa, M, Segovia, S, Manera, JD. Spanish Pompe Registry: overview based on the 130 patients included. NEUROMUSCULAR DISORDERS. 2024; 43DOI:10.1016/j.nmd.2024.07.732. PMID:. IF:2.800(Q2/5D).

Segarra-Casas, A, Domínguez-González, C, Natera-De-Benito, D, Ortez, C, Nascimiento, A, Hernández-Laín, A, Kapetanovic, S, Rodríguez, M, González-Mera, L, Nedkova, V, Fernández-Torrón, R, López-de Munain, A, Jimenez-Mallebrera, C, Rodríguez-Santiago, B, Gallardo, E, Olivé, M, Gallano, P, González-Quereda, L. RNA sequencing as a diagnostic tool in a cohort of 54 undiagnosed patients with neuromuscular diseases. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).