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01/10/2024
An integrated transcriptomics and genomics approach to detect an X/autosome translocation in a female with Duchenne muscular dystrophy
Segarra-Casas, A, Yépez, V, Demidov, G, Laurie, S, Esteve, A, Gagneur, J, Parkhurst, Y, Muni-Lofra, R, Harris, E, Marini-Bettolo, C, Straub, V, Töpf, A. An integrated transcriptomics and genomics approach to detect an X/autosome translocation in a female with Duchenne muscular dystrophy. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).
01/10/2024
Genetic mosaicism, an underestimated event in genetically unsolved neuromuscular patients: study of two families
Estévez-Arias, B, Segarra-Casas, A, Ortez, C, Matalonga, L, Carrera-García, L, Expósito-Escudero, J, Jou, C, Codina, A, Jiménez-Mallebrera, C, Martorell, L, Lochmüller, H, Töpf, A, Beltran, S, Hoenicka, J, Palau, F, Martí, I, Gallano, P, Nascimento, A, Natera-de Benito, D, González-Quereda, L. Genetic mosaicism, an underestimated event in genetically unsolved neuromuscular patients: study of two families. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).
01/10/2024
Familial case of Bethlem myopathy caused by an ALU insertion in COL6A2
Luce, L, Demidov, G, Duff, J, McFarlane, A, Segarra-Casas, A, Laurie, S, de Visser, M, van der Kooi, A, Straub, V, Töpf, A. Familial case of Bethlem myopathy caused by an ALU insertion in COL6A2. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).
01/10/2024
Monoallelic DAG1 truncating variants in patients with hyperCKemia
Segarra-Casas, A, Trainor, C, Polavarapu, K, Díaz-Manera, J, Gonzalez-Quereda, L, Kirschner, J, de Munain, AL, Nascimento, A, Roos, A, Dowling, J, Muntoni, F, Töpf, A, Straub, V. Monoallelic DAG1 truncating variants in patients with hyperCKemia. NEUROMUSCULAR DISORDERS. 2024; 43DOI:10.1016/j.nmd.2024.07.257. PMID:. IF:2.800(Q2/5D).
01/04/2022
LDL Cholesterol Reduction Variability with Different Types and Doses of Statins in Monotherapy or Combined with Ezetimibe. Results from the Spanish Arteriosclerosis Society Dyslipidaemia Registry
Climent, E, Bea, AM, Benaiges, D, Brea-Hernando, A, Pinto, X, Suarez-Tembra, M, Perea, V, Plana, N, Blanco-Vaca, F, Pedro-Botet, J. LDL Cholesterol Reduction Variability with Different Types and Doses of Statins in Monotherapy or Combined with Ezetimibe. Results from the Spanish Arteriosclerosis Society Dyslipidaemia Registry. CARDIOVASCULAR DRUGS AND THERAPY. 2022; 36(2)DOI:10.1007/s10557-020-07137-z. PMID:33555511. IF:3.400(Q2/5D).
01/10/2021
Malondialdehyde-modified HDL particles elicit a specific IgG response in abdominal aortic aneurysm
Rodriguez-Carrio, J, Cerro-Pardo, I, Lindholt, JS, Bonzon-Kulichenko, E, Martinez-Lopez, D, Roldan-Montero, R, Escola-Gil, JC, Michel, JB, Blanco-Colio, LM, Vazquez, J, Suraez, A, Martin-Ventura, JL. Malondialdehyde-modified HDL particles elicit a specific IgG response in abdominal aortic aneurysm. FREE RADICAL BIOLOGY AND MEDICINE. 2021; 174DOI:10.1016/j.freeradbiomed.2021.08.004. PMID:34364980. IF:8.101(Q1/2D).