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01/01/2025
Practitioner's perception of myasthenia gravis management recommendations in clinical practice: a cross-sectional survey study
Cortes-Vicente, E, Guerrero-Sola, A, Caballero-Martinez, F, Campos-Lucas, FJ, Gómez-Salgado, J, Monge-Martin, D, Alvarez-Velasco, R. Practitioner's perception of myasthenia gravis management recommendations in clinical practice: a cross-sectional survey study. Therapeutic Advances in Chronic Disease. 2025; 16DOI:10.1177/20406223251368063. PMID:40949050. IF:2.800(Q2/5D).
19/12/2024
Guillain-Barre syndrome
Leonhard, SE, Papri, N, Querol, L, Rinaldi, S, Shahrizaila, N, Jacobs, BC. Guillain-Barre syndrome. Nature Reviews Disease Primers. 2024; 10(1)DOI:10.1038/s41572-024-00580-4. PMID:39702645. IF:60.600(Q1/1D).
28/10/2024
Hereditary transthyretin amyloidosis caused by Val142Ile variant in Spain: phenotypic characteristics, geographic distribution and population frequency
Seminario, FD, Aventin, BP, Eiros, R, Freire, JL, Sevilla, T, Carbayo, A, Llongueras, P, Garcia-Alvarez, A, Ripoll-Vera, T, Macias, R, Vilches, S, Ruiz-Bustillo, S, Achaga, XA, Ordas, JG, Gonzalez-Costello, J. Hereditary transthyretin amyloidosis caused by Val142Ile variant in Spain: phenotypic characteristics, geographic distribution and population frequency. EUROPEAN HEART JOURNAL. 2024; 45DOI:10.1093/eurheartj/ehae666.2073. PMID:. IF:35.600(Q1/1D).
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).
01/10/2024
Spanish Pompe Registry: overview based on the 130 patients included
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).
01/10/2024
RNA sequencing as a diagnostic tool in a cohort of 54 undiagnosed patients with neuromuscular diseases
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).