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01/01/2025
Targeting protein-protein interactions in drug discovery: Modulators approved or in clinical trials for cancer treatment
Camps-Fajol, C, Cavero, D, Minguillon, J, Surralles, J. Targeting protein-protein interactions in drug discovery: Modulators approved or in clinical trials for cancer treatment. PHARMACOLOGICAL RESEARCH. 2025; 211DOI:10.1016/j.phrs.2024.107544. PMID:39667542. IF:10.500(Q1/1D).
01/01/2025
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps
Segarra-Casas, A, Iruzubieta, P, Kapetanovic, S, Hernández-Laín, A, Jericó, I, Fernández-Torrón, R, Maneiro, M, Marco-Moreno, P, Zelaya-Huerta, MV, Rodríguez-Santiago, B, Calafell, F, Töpf, A, Straub, V, Vallejo-Illarramendi, A, de Munain, AL, Gallano, P, Gonzalez-Quereda, L. A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps. EUROPEAN JOURNAL OF NEUROLOGY. 2025; 32(1)DOI:10.1111/ene.16471. PMID:39742415. IF:3.900(Q1/3D).
21/12/2024
Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials
Río, P, Zubicaray, J, Navarro, S, Gálvez, E, Sánchez-Domínguez, R, Nicoletti, E, Sebastian, E, Rothe, M, Pujol, R, Bogliolo, M, John-Neek, P, Bastone, AL, Schambach, A, Wang, W, Schmidt, M, Larcher, L, Segovia, JC, Yáñez, RM, Alberquilla, O, Diez, B, Fernández-García, M, García-García, L, Ramírez, M, Galy, A, Lefrere, F, Cavazzana, M, Leblanc, T, de Andoin, NG, López-Almaraz, R, Catala, A, Barquinero, J, Rodríguez-Perales, S, Rao, G, Surrallés, J, Soulier, J, Díaz-de-Heredia, C, Schwartz, JD, Sevilla, J, Bueren, JA. Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials. LANCET. 2024; 404(10471)DOI:10.1016/S0140-6736(24)01880-4. PMID:39642902. IF:88.500(Q1/1D).
20/07/2023
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C & gt;G splicing mutation
Persico I., Fontana G., Faleschini M., Zanchetta M.E., Ammeti D., Cappelli E., Corsolini F., Mosa C., Guarina A., Bogliolo M., Surrallés J., Dufour C., Farruggia P., Savoia A., Bottega R.. A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C & gt;G splicing mutation. Frontiers in Genetics. 2023; 14DOI:10.3389/fgene.2023.1209138. PMID:37547463. IF:2.800(Q2/5D).
21/06/2023
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders
Lee, EM, Verma, M, Palaniappan, N, Pope, EM, Lee, S, Blacher, L, Neerumalla, P, An, W, Campbell, T, Brown, C, Hurst, S, Marshall, B, Hershey, T, Nunes, V, de Heredia, ML, Urano, F. Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders. Frontiers in Genetics. 2023; 14DOI:10.3389/fgene.2023.1198171. PMID:37415600. IF:2.800(Q2/5D).
01/04/2023
Intermittent inotropic support with levosimendan in advanced heart failure as destination therapy: The LEVO-D registry
Dobarro, D, Donoso-Trenado, V, Sole-Gonzalez, E, Moliner-Abos, C, Garcia-Pinilla, JM, Lopez-Fernandez, S, Ruiz-Bustillo, S, Diez-Lopez, C, Castrodeza, J, Mendez-Fernandez, AB, Vaqueriza-Cubillo, D, Cobo-Marcos, M, Tobar, J, Sagasti-Aboitiz, I, Rodriguez, M, Escolar, V, Abecia, A, Codina, P, Gomez-Otero, I, Pastor, F, Marzoa-Rivas, R, Gonzalez-Babarro, E, de Juan-Baguda, J, Melendo-Viu, M, de Frutos, F, Gonzalez-Costello, J. Intermittent inotropic support with levosimendan in advanced heart failure as destination therapy: The LEVO-D registry. ESC Heart Failure. 2023; 10(2)DOI:10.1002/ehf2.14278. PMID:36655614. IF:3.200(Q2/3D).