Buscar
01/05/2026
Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy
Aranda, S, Ribeiro-Constante, J, Tristán-Nogueroa, A, Moreno-Ruiz, N, Arenas, C, Calvo, FFM, Ibáñez-Micó, S, Segura, JLP, Ramos-Fernández, JM, Chicanoi, MDM, León, RC, Soto-Insuga, V, González-Alguacil, E, Dávila, CV, Fernández-Jaén, A, Plans, L, Camacho, A, Visa-Reñé, N, Blázquez, MDMT, Paredes-Carmona, F, Marti-Carrera, I, Ginot-Julià, G, Hernández-Fabián, A, Daví, MT, Sànchez, MC, Herraiz, LC, Pitav, PF, González, TB, O'Callaghan, M, Polonia, FFIS, Cazorla, MR, Lucas, MTF, González-Meneses, A, Sala-Coromina, J, Macaya, A, Lasa-Aranzasti, A, Cueto-González, AM, Párraga, FV, Plana, JC, Serrano, M, Alonso, X, Palafoll, MIV, Monteagudo, E, Alonso-Colmenero, I, Capdevila, OS, Casals, F, Cormand, B, García-Cazorla, A, Bayés, A, Mitjans, M. Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy. NEUROBIOLOGY OF DISEASE. 2026; 222DOI:10.1016/j.nbd.2026.107357. PMID:41856439. IF:5.600(Q1/2D).
01/03/2022
International stroke genetics consortium recommendations for studies of genetics of stroke outcome and recovery
Lindgren, AG, Braun, RG, Majersik, JJ, Clatworthy, P, Mainali, S, Derdeyn, CP, Maguire, J, Jern, C, Rosand, J, Cole, JW, Lee, JM, Khatri, P, Nyquist, P, Debette, S, Wei, LK, Rundek, T, Leifer, D, Thijs, V, Lemmens, R, Heitsch, L, Prasad, K, Conde, JJ, Dichgans, M, Rost, NS, Cramer, SC, Bernhardt, J, Worrall, BB, Fernandez-Cadenas, I. International stroke genetics consortium recommendations for studies of genetics of stroke outcome and recovery. International Journal of Stroke. 2022; 17(3)DOI:10.1177/17474930211007288. PMID:33739214. IF:6.700(Q1/2D).
04/05/2026
Pharmacogenomics of anti-seizure medications in epilepsy: a systematic review of genetic predictors of response and tolerance
Barguilla, A, Riera, P, Ros-Castelló, V, Muino, E, Sierra-Marcos, A. Pharmacogenomics of anti-seizure medications in epilepsy: a systematic review of genetic predictors of response and tolerance. Expert Review of Neurotherapeutics. 2026; 26(5)DOI:10.1080/14737175.2026.2647028. PMID:41875007. IF:3.400(Q2/3D).
01/03/2026
Neoadjuvant radiotherapy for primary retroperitoneal well-differentiated liposarcoma: a Transatlantic Australasian Retroperitoneal Sarcoma Working Group (TARPSWG) propensity score matched analysis
Fairweather, M, Sulciner, M, Jolissaint, JS, Fiore, M, Ortega, DYG, Iwata, S, Ford, SJ, Swallow, C, Nizri, E, Quagliuolo, V, Nessim, C, Adamkova, D, Rutkowski, P, Cardona, K, Kim, E, Porpiglia, AS, Johnston, FM, Gyorki, DE, Vincenzi, B, Corina, KF, Kramer, S, Blazer, D, Tseng, WW, Albertsmeier, M, González, JA, Hompes, D, Baldini, EH, Gronchi, A, Rauta, CP. Neoadjuvant radiotherapy for primary retroperitoneal well-differentiated liposarcoma: a Transatlantic Australasian Retroperitoneal Sarcoma Working Group (TARPSWG) propensity score matched analysis. Eclinicalmedicine. 2026; 93DOI:10.1016/j.eclinm.2026.103805. PMID:41783086. IF:10.000(Q1/1D).