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01/11/2025
Clinicopathological and molecular features of recurrence in ctDNA-negative resected colorectal cancer
Beltran, JS, Pérez, MARSM, Manrique, ACV, Cullell, BM, Munoz, MN, Mateo, FJP, Riera, P, Fuste, V, Fumagalli, C, Szafranska, J, Catasus, L, Gonzalez, A, Paez, D. Clinicopathological and molecular features of recurrence in ctDNA-negative resected colorectal cancer. ANNALS OF ONCOLOGY. 2025; 36DOI:10.1016/j.annonc.2025.08.1344. PMID:. IF:65.400(Q1/1D).
01/09/2025
A recurrent non-coding 3'UTR variant as a hidden second hit in 11 families with CAPN3-related limb girdle muscular dystrophy
Estévez-Arias, B, Segarra-Casas, A, Romo, L, Polavarapu, K, O'Heir, E, Singer-Berk, M, O'Leary, M, Nectoux, J, Spinazzi, M, Leturcq, F, Llanso, L, Domínguez, C, Topf, A, Lochmüller, H, Malfatti, E, Nascimento, A, Gallardo, E, González-Quereda, L, Natera-de Benito, D. A recurrent non-coding 3'UTR variant as a hidden second hit in 11 families with CAPN3-related limb girdle muscular dystrophy. NEUROMUSCULAR DISORDERS. 2025; 53DOI:10.1016/j.nmd.2025.105786. PMID:. IF:2.800(Q2/5D).
01/07/2025
Response to the Letter to the Editor regarding "Persistence, effectiveness, and tolerability of anti-calcitonin gene-related peptide monoclonal antibodies in patients with chronic migraine"
de Dios, A, Pagès-Puigdemont, N, Ojeda, S, Riera, P, Pelegrin, R, Morollon, N, Belvís, R, Real, J, Masip, M. Response to the Letter to the Editor regarding "Persistence, effectiveness, and tolerability of anti-calcitonin gene-related peptide monoclonal antibodies in patients with chronic migraine". HEADACHE. 2025; 65(7)DOI:10.1111/head.14983. PMID:40668957. IF:4.000(Q1/2D).
01/06/2025
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome
Trujillano, L, Valenzuela, I, Costa-Roger, M, Cusco, I, Fernandez-Alvarez, P, Cueto-Gonzalez, A, Lasa-Aranzasti, A, Masotto, B, Abuli, A, Codina-Sola, M, del Campo, M, Moreno, JAR, Dominguez, CP, Milla, CP, de la Fuente, RP, Quesada-Espinosa, JF, Nunez-Enamorado, N, Gener, B, Ballesta-Martinez, MJ, Brea-Fernandez, AJ, Fernandez-Prieto, M, Trujillo-Quintero, JP, Ruiz, A, Santos-Simarro, F, Rosello, M, Orellana, C, Martinez, F, Martinez-Monseny, AF, Casas-Alba, D, Serrano, M, Palomares-Bralo, M, Rikeros-Orozco, E, Gomez-Cano, MA, Tirado-Requero, P, Juste, JP, Ramos, FJ, Garcia-Arumi, E, Tizzano, EF. Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome. CLINICAL GENETICS. 2025; 107(6)DOI:10.1111/cge.14701. PMID:39833101. IF:2.300(Q3/6D).
15/01/2025
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy
Iruzubieta, P, Verdú-Díaz, J, Töpf, A, Luce, L, Claeys, KG, De Ridder, W, González-Quereda, L, de la Hoz, CPD, Poza, JJ, Zulaica, M, de Jonghe, P, Duff, J, Mroczek, M, Martín-Jiménez, P, Hernández-Laín, A, Domínguez-González, C, Baets, J, Gallano, P, Díaz-Manera, J, Straub, V, de Munain, AL, Fernandez-Torron, R. Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy. JOURNAL OF NEUROLOGY. 2025; 272(2)DOI:10.1007/s00415-025-12893-9. PMID:39812845. IF:4.600(Q1/2D).
21/01/2025
Annexin A8 deficiency delays atherosclerosis progression
Gutiérrez-Muñoz, C, Blázquez-Serra, R, San Sebastian-Jaraba, I, Sanz-Andrea, S, Fernández-Gómez, MJ, Nuñez-Moreno, G, Mínguez, P, Escolá-Gil, JC, Nogales, P, Ollivier, V, Martín-Ventura, JL, Noe, BHT, Rescher, U, Méndez-Barbero, N, Blanco-Colio, LM. Annexin A8 deficiency delays atherosclerosis progression. Clinical and Translational Medicine. 2025; 15(1)DOI:10.1002/ctm2.70176. PMID:39835780. IF:6.800(Q1/2D).