Search
01/10/2024
MRI for the diagnosis of limb girdle muscular dystrophies
Bolano-Díaz, C, Verdú-Díaz, J, Díaz-Manera, J. MRI for the diagnosis of limb girdle muscular dystrophies. CURRENT OPINION IN NEUROLOGY. 2024; 37(5)DOI:10.1097/WCO.0000000000001305. PMID:39132784. IF:4.400(Q1/2D).
01/10/2024
Natural history of spinal muscular atrophy patients with 3 and 4 copies of SMN2 gene - data from the national Spanish registry (CUIDAME)
Gawinska, KA, García, MF, Osorio, AN, Paradas, C, Sotoca, J, Povedano, M, Moreno, A, Henao, M, Gil, C, Rojas, R, Caravaca, MG, Grimalt, M, Torron, RF, Jericó, I, Campos, OG, de Laguna, LTB, Hervás, D, Tizzano, E, Costa, JV. Natural history of spinal muscular atrophy patients with 3 and 4 copies of SMN2 gene - data from the national Spanish registry (CUIDAME). NEUROMUSCULAR DISORDERS. 2024; 43DOI:10.1016/j.nmd.2024.07.461. PMID:. IF:2.800(Q2/5D).
01/10/2024
SnRNAseq analysis of muscle samples of patients with SMA reveals novel pathogenic pathways and open avenues for new therapeutic strategies
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).
01/10/2024
The International Clinical Outcome Study for Dysferlinopathy II: validation of motor outcome measures in a new patient cohort
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).