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01/01/2023 Author Correction: Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism (Nature Communications, (2023), 14, 1, (3280), 10.1038/s41467-023-38383-y)

Iglesias M.J., Sanchez-Rivera L., Ibrahim-Kosta M., Naudin C., Munsch G., Goumidi L., Farm M., Smith P.M., Thibord F., Kral-Pointner J.B., Hong M.-G., Suchon P., Germain M., Schrottmaier W., Dusart P., Boland A., Kotol D., Edfors F., Koprulu M., Pietzner M., Langenberg C., Damrauer S.M., Johnson A.D., Klarin D.M., Smith N.L., Smadja D.M., Holmström M., Magnusson M., Silveira A., Uhlén M., Renné T., Martinez-Perez A., Emmerich J., Deleuze J.-F., Antovic J., Soria Fernandez J.M., Assinger A., Schwenk J.M., Souto Andres J.C., Morange P.-E., Butler L.M., Trégouët D.-A., Odeberg J.. Author Correction: Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism (Nature Communications, (2023), 14, 1, (3280), 10.1038/s41467-023-38383-y). Nature Communications. 2023; 14(1)DOI:10.1038/s41467-023-43764-4. PMID:. IF:(Q/D).

01/08/2025 ATP-citrate lyase inhibition by bempedoic acid protects against abdominal aortic aneurysm

Blanco-Casoliva, L, Puertas-Umbert, L, Alonso, J, Almendra-Pegueros, R, Camacho, M, Rodríguez-Sinovas, A, Gálan, M, Roglans, N, Laguna, JC, Martínez-González, J, Rodríguez, C. ATP-citrate lyase inhibition by bempedoic acid protects against abdominal aortic aneurysm. ATHEROSCLEROSIS. 2025; 407DOI:. PMID:. IF:5.700(Q1/1D).

01/08/2025 Telmisartan reverses hepatic steatosis via PCK1 upregulation: A novel PPAR-independent mechanism in experimental models of MASLD

Bentanachs, R, Ramirez-Carrasco, P, Braster, B, Emmanouilidou, A, Mujica, E, Rodrigo-Calvo, M, Rodriguez, C, Roglans, N, Den Hoed, M, Laguna, JC, Alegret, M. Telmisartan reverses hepatic steatosis via PCK1 upregulation: A novel PPAR-independent mechanism in experimental models of MASLD. PHARMACOLOGICAL RESEARCH. 2025; 218DOI:10.1016/j.phrs.2025.107860. PMID:40675520. IF:10.500(Q1/1D).

01/03/2025 Identification of endoplasmic reticulum stress- associated lncRNAs influencing inflammation and VSMC function in abdominal aortic aneurysm

Almendra-Pegueros, R, Rodriguez, C, Camacho, M, Sánchez-Infantes, D, Sánchez-Quesada, JL, Cáncer, S, Pérez-Marlasca, E, Medina-Gómez, G, Martinez-González, J, García-Redondo, AB, Galán, M. Identification of endoplasmic reticulum stress- associated lncRNAs influencing inflammation and VSMC function in abdominal aortic aneurysm. CLINICAL SCIENCE. 2025; 139(6)DOI:10.1042/CS20242476. PMID:40072504. IF:7.700(Q1/2D).

15/12/2024 Transient cerebral ischaemia alters mesenteric arteries in hypertensive rats: Limited reversal despite suberoylanilide hydroxamic acid cerebroprotection

Díaz-Pérez, A, Lope-Piedrafita, S, Pérez, B, Vázquez-Sufuentes, P, Rodriguez-Garcia, M, Briones, AM, Navarro, X, Penas, C, Jiménez-Altayó, F. Transient cerebral ischaemia alters mesenteric arteries in hypertensive rats: Limited reversal despite suberoylanilide hydroxamic acid cerebroprotection. LIFE SCIENCES. 2024; 359DOI:10.1016/j.lfs.2024.123247. PMID:39547431. IF:5.100(Q1/2D).

01/10/2024 NADPH Oxidase 5 (NOX5) Upregulates MMP-10 Production and Cell Migration in Human Endothelial Cells

Marqués, J, Ainzúa, E, Orbe, J, Martínez-Azcona, M, Martínez-González, J, Zalba, G. NADPH Oxidase 5 (NOX5) Upregulates MMP-10 Production and Cell Migration in Human Endothelial Cells. Antioxidants. 2024; 13(10)DOI:10.3390/antiox13101199. PMID:39456453. IF:6.600(Q1/1D).

01/08/2024 IDENTIFICATION OF NEW THERAPEUTIC TARGETS AND BIOMARKERS IN PATIENTS WITH ASCENDING AORTIC ANEURYSM ACCORDING WITH THEIR GENETIC HETEROGENEITY

Galán, M, Almendra-Pegueros, R, Barros, AJ, Tabilo, JF, Dominguez-Tenreiro, M, Fernández, LM, Pérez-Marlasca, E, Borrás, N, Vidal, F, Martinez-González, J, Rodríguez, C. IDENTIFICATION OF NEW THERAPEUTIC TARGETS AND BIOMARKERS IN PATIENTS WITH ASCENDING AORTIC ANEURYSM ACCORDING WITH THEIR GENETIC HETEROGENEITY. ATHEROSCLEROSIS. 2024; 395DOI:. PMID:. IF:5.700(Q1/1D).

09/05/2024 Connexin 43 modulates reverse electron transfer in cardiac mitochondria from inducible knock-out Cx43^Cre-ER(T)/fl mice by altering the coenzyme Q pool

Consegal, M, Miró-Casas, E, Barba, I, Ruiz-Meana, M, Inserte, J, Benito, B, Rodríguez, C, Ganse, FG, Rubio-Unguetti, L, Llorens-Cebrià, C, Ferreira-González, I, Rodríguez-Sinovas, A. Connexin 43 modulates reverse electron transfer in cardiac mitochondria from inducible knock-out Cx43^Cre-ER(T)/fl mice by altering the coenzyme Q pool. BASIC RESEARCH IN CARDIOLOGY. 2024; 119(4)DOI:10.1007/s00395-024-01052-2. PMID:38724619. IF:8.000(Q1/1D).

01/05/2024 Lysyl Oxidase in Ectopic Cardiovascular Calcification: Role of Oxidative Stress

Ballester-Servera, C, Alonso, J, Cañes, L, Vázquez-Sufuentes, P, García-Redondo, AB, Rodríguez, C, Martínez-González, J. Lysyl Oxidase in Ectopic Cardiovascular Calcification: Role of Oxidative Stress. Antioxidants. 2024; 13(5)DOI:10.3390/antiox13050523. PMID:38790628. IF:6.600(Q1/1D).

01/12/2023 PDE4 Phosphodiesterases in Cardiovascular Diseases: Key Pathophysiological Players and Potential Therapeutic Targets

Puertas-Umbert, L, Alonso, J, Hove-Madsen, L, Martínez-González, J, Rodríguez, C. PDE4 Phosphodiesterases in Cardiovascular Diseases: Key Pathophysiological Players and Potential Therapeutic Targets. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2023; 24(23)DOI:10.3390/ijms242317017. PMID:38069339. IF:4.900(Q1/3D).

01/10/2023 Applications of artificial intelligence in nutrition and dietetics: Beyond virtual assistants

Bonilla, DA, Daga, R, Gamero, A, Pérez-López, A, Pérez-Esteve, E, Pérez-Armijo, P, Petermann-Rocha, F, Lozano-Lorca, M, García-Galbis, MR, Kouiti, M, Carrillo-Alvarez, E, Fernández-Villa, T, Apolinar-Jiménez, E, Nava-González, EJ, Benítez-Brito, N, Almendra-Regueros, R. Applications of artificial intelligence in nutrition and dietetics: Beyond virtual assistants. Revista Espanola De Nutricion Humana Y Dietetica. 2023; 27(4)DOI:10.14306/renhyd.27.4.2054. PMID:. IF:(Q/D).

01/10/2023 Pros and cons of open science from the Spanish Journal of Human Nutrition and Dietetics

Pérez-López, A, Fernández-Villa, T, Lozano-Lorca, M, Pérez-Armijo, P, García-Galbis, MR, Pérez-Esteve, E, Gamero, A, Petermann-Rocha, F, Apolinar-Jiménez, E, Nava-González, EJ, Almendra-Pegueros, R. Pros and cons of open science from the Spanish Journal of Human Nutrition and Dietetics. Revista Espanola De Nutricion Humana Y Dietetica. 2023; 27(4)DOI:10.14306/renhyd.27.4.2055. PMID:. IF:(Q/D).

01/08/2023 Novel pharmacological approaches in abdominal aortic aneurysm

Puertas-Umbert, L, Almendra-Pegueros, R, Jimenez-Altayo, F, Sirvent, M, Galan, M, Martinez-Gonzalez, J, Rodriguez, C. Novel pharmacological approaches in abdominal aortic aneurysm. CLINICAL SCIENCE. 2023; 137(15)DOI:10.1042/CS20220795. PMID:37559446. IF:6.700(Q1/2D).

23/06/2023 Targeting lysyl-oxidase (LOX) may facilitate intramural periarterial drainage for the treatment of Alzheimer's disease

Kelly L., Sharp M.M., Thomas I., Brown C., Schrag M., Antunes L.V., Solopova E., Martinez-Gonzalez J., Rodríguez C., Carare R.O.. Targeting lysyl-oxidase (LOX) may facilitate intramural periarterial drainage for the treatment of Alzheimer's disease. Cerebral Circulation - Cognition And Behavior. 2023; 5DOI:10.1016/j.cccb.2023.100171. PMID:37457664. IF:(Q/D).

01/05/2023 Activation of Wnt/ß-catenin signaling in abdominal aortic aneurysm: A potential therapeutic opportunity?

Puertas-Umbert L., Varona S., Ballester-Servera C., Alonso J., Aguiló S., Orriols M., Martínez-Martínez E., Rodríguez-Sinovas A., Martínez-González J., Rodríguez C.. Activation of Wnt/ß-catenin signaling in abdominal aortic aneurysm: A potential therapeutic opportunity?. Genes And Diseases. 2023; 10(3)DOI:10.1016/j.gendis.2022.05.017. PMID:37396504. IF:6.900(Q1/1D).

27/04/2023 Spontaneous reperfusion enhances succinate concentration in peripheral blood from stemi patients but its levels does not correlate with myocardial infarct size or area at risk

Consegal, M, Barba, I, del Blanco, BG, Otaegui, I, Rodriguez-Palomares, JF, Marti, G, Serra, B, Bellera, N, Ojeda-Ramos, M, Valente, F, Carmona, MA, Miro-Casas, E, Sambola, A, Lidon, RM, Baneras, J, Barrabes, JA, Rodriguez, C, Benito, B, Ruiz-Meana, M, Inserte, J, Ferreira-Gonzalez, I, Rodriguez-Sinovas, A. Spontaneous reperfusion enhances succinate concentration in peripheral blood from stemi patients but its levels does not correlate with myocardial infarct size or area at risk. Scientific Reports. 2023; 13(1)DOI:10.1038/s41598-023-34196-7. PMID:37106099. IF:3.800(Q1/2D).

24/04/2023 Post-Pandemic Feeding Patterns and Mediterranean Diet Adherence in Spanish Toddlers

Reyes-Dominguez, AI, Bernabeu-Sendra, J, Rodriguez-Sinovas, C, Santamaria-Orleans, A, de Castellar-Sanso, R, Martinez-Perez, J. Post-Pandemic Feeding Patterns and Mediterranean Diet Adherence in Spanish Toddlers. Nutrients. 2023; 15(9)DOI:10.3390/nu15092049. PMID:37432177. IF:4.800(Q1/2D).

25/03/2023 CPT1A in AgRP neurons is required for sex-dependent regulation of feeding and thirst

Zagmutt, S, Mera, P, Gonzalez-Garcia, I, Ibeas, K, Romero, MD, Obri, A, Martin, B, Esteve-Codina, A, Soler-Vazquez, MC, Bastias-Perez, M, Canes, L, Auge, E, Pelegri, C, Vilaplana, J, Ariza, X, Garcia, J, Martinez-Gonzalez, J, Casals, N, Lopez, M, Palmiter, R, Sanz, E, Quintana, A, Herrero, L, Serra, D. CPT1A in AgRP neurons is required for sex-dependent regulation of feeding and thirst. Biology of Sex Differences. 2023; 14(1)DOI:10.1186/s13293-023-00498-8. PMID:36966335. IF:4.900(Q1/2D).

01/01/2023 Resolvin D2 Attenuates Cardiovascular Damage in Angiotensin II-Induced Hypertension

del Campo, LSD, García-Redondo A.B., Rodríguez C., Zaragoza C., Duro-Sánchez S., Palmas F., De Benito-Bueno A., Socuéllamos P.G., Peraza D.A., Rodrigues-Díez R., Valenzuela C., Dalli J., Salaices M., Briones A.M.. Resolvin D2 Attenuates Cardiovascular Damage in Angiotensin II-Induced Hypertension. HYPERTENSION. 2023; 80(1)DOI:10.1161/HYPERTENSIONAHA.122.19448. PMID:36337053. IF:7.200(Q1/1D).

01/01/2023 Balance of the year 2022 and new Strategic Plan 2023-2026 of the Spanish Journal of Human Nutrition and Dietetics

Munoz, EMN, Pérez-López A., Apolinar-Jiménez E., Fernández-Villa T., Brito N.B., Petermann-Rocha F., Gamero A., Pérez-Armijo P., Lozano-Lorca M., Bonilla D.A., Pérez-Esteve É., Nava-González E.J., Troncoso-Pantoja C., Almendra-Pegueros R.. Balance of the year 2022 and new Strategic Plan 2023-2026 of the Spanish Journal of Human Nutrition and Dietetics. Revista Espanola De Nutricion Humana Y Dietetica. 2023; 27(1)DOI:10.14306/renhyd.27.1.1903. PMID:. IF:(Q/D).

01/01/2023 Formación del dietista-nutricionista clínico en Latinoamérica: un espejo donde debe mirarse España

Nava-Gonzalez E.J., Apolinar-Jiménez E., Bénitez-Brito N., Pérez-Armijo P., Pérez-López A., Troncoso-Pantoj C., Bonilla D.A., Fernández-Villa T., Petermann-Rocha F., Gamero A., Pérez-Esteve É., Navarrete-Muñoz E.M., Lozano-Lorca M., Almendra-Pegueros R.. Formación del dietista-nutricionista clínico en Latinoamérica: un espejo donde debe mirarse España. Revista Espanola De Nutricion Humana Y Dietetica. 2023; 27(2)DOI:10.14306/renhyd.27.2.1957. PMID:. IF:(Q/D).

01/01/2023 Desafíos alimentarios para un mundo que envejece

Petermann-Rocha F., Troncoso-Pantoja C., Gamero A., Pérez-Armijo P., Carrillo-Alvarez E., Daga R., Reig García-Galbis M., Pérez-López A., Benítez Brito N., Fernández-Villa T., Bonilla D.A., Lozano-Lorca M., Kouiti M., Kammar-García A., Nava-González E.J., Almendra-Pegueros R.. Desafíos alimentarios para un mundo que envejece. Revista Espanola De Nutricion Humana Y Dietetica. 2023; 27(3)DOI:10.14306/renhyd.27.3.1975. PMID:. IF:(Q/D).

01/01/2023 ¿Cuál es el papel de las y los editores en la comunicación y difusión científica? Análisis desde el equipo editorial de la Revista Española de Nutrición Humana y Dietética

Troncoso-Pantoja C., Petermann-Rocha F., Pérez-Armijo P., Gamero A., Carrillo-Alvarez E., Apolinar-Jiménez E., García-Galbis M.R., Pérez-Esteve É., Daga R., Lozano-Lorca M., Nava-González E.J., Bonilla D.A., Kouiti M., Almendra-Pegueros R.. ¿Cuál es el papel de las y los editores en la comunicación y difusión científica? Análisis desde el equipo editorial de la Revista Española de Nutrición Humana y Dietética. Revista Espanola De Nutricion Humana Y Dietetica. 2023; 27(3)DOI:10.14306/renhyd.27.3.1998. PMID:. IF:(Q/D).

01/11/2022 Factors Associated with Dietary Restriction and Emotional and Uncontrolled Eating in Adults from Spanish-Speaking Countries during the COVID-19 Confinement: Results of the CoV-Eat Project

Vila-Marti, A, Ramirez-Contreras, C, Apolinar-Jimenez, E, Rojas-Cardenas, P, Valera-Gran, D, Almendra-Pegueros, R, Navarrete-Munoz, EM. Factors Associated with Dietary Restriction and Emotional and Uncontrolled Eating in Adults from Spanish-Speaking Countries during the COVID-19 Confinement: Results of the CoV-Eat Project. Nutrients. 2022; 14(22)DOI:10.3390/nu14224866. PMID:36432551. IF:5.900(Q1/2D).

01/10/2022 Retinal Pigment Epithelium-Secreted VEGF-A Induces Alpha-2-Macroglobulin Expression in Endothelial Cells

Lehmann, GL, Ginsberg, M, Nolan, DJ, Rodriguez, C, Martinez-Gonzalez, J, Zeng, SM, Voigt, AP, Mullins, RF, Rafii, S, Rodriguez-Boulan, E, Benedicto, I. Retinal Pigment Epithelium-Secreted VEGF-A Induces Alpha-2-Macroglobulin Expression in Endothelial Cells. Cells. 2022; 11(19)DOI:10.3390/cells11192975. PMID:36230937. IF:6.000(Q2/4D).

29/09/2022 A qualitative look at the research in the Spanish Journal of Human Nutrition and Dietetics

Troncoso-Pantoja, C, Petermann-Rocha, F, Lozano-Lorca, M, Perez-Lopez, A, Almendra-Pegueros, R, Fernandez-Villa, T, Nava-Gonzalez, EJ, Gamero, A, Camacho-Lopez, S, Bonillal, DA, Perez-Esteve, E, Navarrete-Munoz, EM. A qualitative look at the research in the Spanish Journal of Human Nutrition and Dietetics. Revista Espanola De Nutricion Humana Y Dietetica. 2022; 26(3)DOI:10.14306/renhyd.26.3.1723. PMID:. IF:(Q/D).

01/08/2022 CD69-oxLDL ligand engagement induces Programmed Cell Death 1 (PD-1) expression in human CD4+T lymphocytes

Jimenez-Fernandez, M, Rodriguez-Sinovas, C, Canes, L, Ballester-Servera, C, Vara, A, Requena, S, de la Fuente, H, Martinez-Gonzalez, J, Sanchez-Madrid, F. CD69-oxLDL ligand engagement induces Programmed Cell Death 1 (PD-1) expression in human CD4+T lymphocytes. CELLULAR AND MOLECULAR LIFE SCIENCES. 2022; 79(8)DOI:10.1007/s00018-022-04481-1. PMID:35930205. IF:8.000(Q1/2D).

01/06/2022 Microsomal prostaglandin E synthase-1 is involved in the metabolic and cardiovascular alterations associated with obesity

Ballesteros-Martinez, C, Rodrigues-Diez, R, Beltran, LM, Moreno-Carriles, R, Martinez-Martinez, E, Gonzalez-Amor, M, Martinez-Gonzalez, J, Rodriguez, C, Cachofeiro, V, Salaices, M, Briones, AM. Microsomal prostaglandin E synthase-1 is involved in the metabolic and cardiovascular alterations associated with obesity. BRITISH JOURNAL OF PHARMACOLOGY. 2022; 179(11)DOI:10.1111/bph.15776. PMID:34877656. IF:7.300(Q1/1D).

01/01/2022 Arachnoid membrane as a source of sphingosine-1-phosphate that regulates mouse middle cerebral artery tone

Jimenez-Altayo, F, Marzi, J, Galan, M, Dantas, AP, Ortega, M, Rojas, S, Egea, G, Schenke-Layland, K, Jimenez-Xarrie, E, Planas, AM. Arachnoid membrane as a source of sphingosine-1-phosphate that regulates mouse middle cerebral artery tone. JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM. 2022; 42(1)DOI:10.1177/0271678X211033362. PMID:34474613. IF:6.300(Q1/2D).

01/01/2022 Human Lysyl Oxidase Over-Expression Enhances Baseline Cardiac Oxidative Stress but Does Not Aggravate ROS Generation or Infarct Size Following Myocardial Ischemia-Reperfusion

Valls-Lacalle, L, Puertas-Umbert, L, Varona, S, Martinez-Gonzalez, J, Rodriguez, C, Rodriguez-Sinovas, A. Human Lysyl Oxidase Over-Expression Enhances Baseline Cardiac Oxidative Stress but Does Not Aggravate ROS Generation or Infarct Size Following Myocardial Ischemia-Reperfusion. Antioxidants. 2022; 11(1)DOI:10.3390/antiox11010075. PMID:35052579. IF:7.000(Q1/1D).

01/11/2021 NR4A3: A Key Nuclear Receptor in Vascular Biology, Cardiovascular Remodeling, and Beyond

Martinez-Gonzalez, J, Canes, L, Alonso, J, Ballester-Servera, C, Rodriguez-Sinovas, A, Corrales, I, Rodriguez, C. NR4A3: A Key Nuclear Receptor in Vascular Biology, Cardiovascular Remodeling, and Beyond. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2021; 22(21)DOI:10.3390/ijms222111371. PMID:34768801. IF:6.208(Q1/3D).

01/09/2021 Targeting Tyrosine Hydroxylase for Abdominal Aortic Aneurysm Impact on Inflammation, Oxidative Stress, and Vascular Remodeling

Canes, L, Alonso, J, Ballester-Servera, C, Varona, S, Escudero, JR, Andres, V, Rodriguez, C, Martinez-Gonzalez, J. Targeting Tyrosine Hydroxylase for Abdominal Aortic Aneurysm Impact on Inflammation, Oxidative Stress, and Vascular Remodeling. HYPERTENSION. 2021; 78(3)DOI:10.1161/HYPERTENSIONAHA.121.17517. PMID:34304581. IF:9.897(Q1/2D).

01/08/2021 The Interplay of Mitochondrial Oxidative Stress and Endoplasmic Reticulum Stress in Cardiovascular Fibrosis in Obese Rats

Souza-Neto, FV, Jimenez-Gonzalez, S, Delgado-Valero, B, Jurado-Lopez, R, Genty, M, Romero-Miranda, A, Rodriguez, C, Nieto, ML, Martinez-Martinez, E, Cachofeiro, V. The Interplay of Mitochondrial Oxidative Stress and Endoplasmic Reticulum Stress in Cardiovascular Fibrosis in Obese Rats. Antioxidants. 2021; 10(8)DOI:10.3390/antiox10081274. PMID:34439522. IF:7.675(Q1/1D).

01/07/2021 Earth: the planet of the annexins

Martinez-Gonzalez, J, Corrales, I. Earth: the planet of the annexins. Clinica E Investigacion En Arteriosclerosis. 2021; 33(4)DOI:10.1016/j.arteri.2021.06.001. PMID:34274051. IF:(Q/D).

01/06/2022 The need for recognition of core professional groups in genetics healthcare services in Europe

Paneque, M, Liehr, T, Juhe, CS, Moog, U, Melegh, B, Carreira, I. The need for recognition of core professional groups in genetics healthcare services in Europe. EUROPEAN JOURNAL OF HUMAN GENETICS. 2022; 30(6)DOI:10.1038/s41431-022-01080-3. PMID:35283482. IF:5.200(Q1/2D).

31/05/2022 About the Need for Recognition of so-called Core Professional Groups within genetic Health Care in Europe

Paneque, M, Juhe, CS, Melegh, B, Carreira, I, Moog, U, Liehr, T. About the Need for Recognition of so-called Core Professional Groups within genetic Health Care in Europe. Medizinische Genetik. 2022; 34(1)DOI:10.1515/medgen-2022-2116. PMID:. IF:1.100(Q4/10D).

01/12/2021 Current Status of Genetic Counselling for Rare Diseases in Spain

Alvaro-Sanchez, S, Abreu-Rodriguez, I, Abuli, A, Serra-Juhe, C, Garrido-Navas, MD. Current Status of Genetic Counselling for Rare Diseases in Spain. Diagnostics. 2021; 11(12)DOI:10.3390/diagnostics11122320. PMID:34943558. IF:3.992(Q2/4D).

01/09/2021 High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies

Bernal, S, Pelaez, I, Alias, L, Baena, M, De Pablo-Moreno, JA, Serrano, LJ, Camero, MD, Tizzano, EF, Berrueco, R, Liras, A. High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2021; 22(18)DOI:10.3390/ijms22189705. PMID:34575869. IF:6.208(Q1/3D).

01/07/2024 An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy

Segarra-Casas, A, Yepez, VA, Demidov, G, Laurie, S, Esteve-Codina, A, Gagneur, J, Parkhurst, Y, Muni-Lofra, R, Harris, E, Marini-Bettolo, C, Straub, V, Töpf, A. An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2024; 25(14)DOI:10.3390/ijms25147793. PMID:39063034. IF:4.900(Q1/3D).

01/06/2024 Impact of Body Mass Index in the Cardioverter Efficacy of Amiodarone in Persistent Atrial Fibrillation

Ligero, C, Riera, P, El-Amrani, A, Bazan, V, Guerra, JM, Herraez, S, Viñolas, X, Alegret, JM. Impact of Body Mass Index in the Cardioverter Efficacy of Amiodarone in Persistent Atrial Fibrillation. Pharmaceuticals. 2024; 17(6)DOI:10.3390/ph17060693. PMID:38931360. IF:4.800(Q1/2D).

15/02/2024 Thirty-year of genetic counselling education in Europe: a growing professional area

Paneque, M, O'Shea, R, Narravula, A, Siglen, E, Ciuca, A, Abuli, A, Serra-Juhé, C. Thirty-year of genetic counselling education in Europe: a growing professional area. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; DOI:10.1038/s41431-024-01552-8. PMID:38355960. IF:4.600(Q1/2D).

01/01/2024 Mutations in CPLANE2 are responsible of a new form of orofaciodigital syndrome

Palafoll, IV, Pérez, DV, Bruel, AL, Steichen, E, Codina, M, Martínez-Gil, N, Cusco, I, Thauvin-Robinet, C, Tizzano, E. Mutations in CPLANE2 are responsible of a new form of orofaciodigital syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).

01/01/2024 Five new patients with TAOK related disorders: relevance of TAOK2 gene in neurodevelopment?

Lasa-Aranzasti, A, Palafoll, IV, Gonzalez, AMC, Fernandez, P, Cuscó, I, Trujillano, L, Campos, B, Codina, M, Leno, J, García-Arumi, E, Tizzano, E. Five new patients with TAOK related disorders: relevance of TAOK2 gene in neurodevelopment?. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).

01/06/2023 Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples

Abuli, A, Costa-Roger, M, Codina-Sola, M, Valenzuela, I, Leno-Colorado, J, Rovira-Moreno, E, Cueto-Gonzalez, A, Fernandez-Alvarez, P, Garcia-Arumi, E, Cusco, I, Tizzano, EF. Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples. JOURNAL OF MEDICAL GENETICS. 2023; 60(6)DOI:10.1136/jmg-2022-108607. PMID:36600615. IF:3.600(Q2/3D).

01/06/2023 Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

Segarra-Casas, A, Dominguez-Gonzalez, C, Hernandez-Lain, A, Sanchez-Calvin, MT, Camacho, A, Rivas, E, Campo-Barasoain, A, Madruga, M, Ortez, C, Natera-de Benito, D, Nascimento, A, Codina, A, Rodriguez, MJ, Gallano, P, Gonzalez-Quereda, L. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events. JOURNAL OF MEDICAL GENETICS. 2023; 60(6)DOI:10.1136/jmg-2022-108828. PMID:36535754. IF:3.600(Q2/3D).

01/05/2023 Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study

Miarons, M, Gordon, AM, Riera, P, Nicolas, FG. Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study. ONCOLOGIST. 2023; 28(5)DOI:10.1093/oncolo/oyad077. PMID:37014829. IF:4.800(Q1/3D).

12/01/2023 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022

Sarkozy A., Bourke J.P., Ferlini A., Barthélémy I., Cripe L.H., Reuben E., Evangelista T., Ferlini A., Florian A., Gribnau J., Gonzalez-Quereda L., Guglieri M., Niks E., Phadke R., Politano L., Quinlivan R., Vissing J., Voermans N., Vroom E., Pietrusz A., Fortunato F., Houwen S.. 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022. NEUROMUSCULAR DISORDERS. 2023; 33(3)DOI:10.1016/j.nmd.2023.01.003. PMID:36804616. IF:2.700(Q2/4D).

01/01/2023 An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history

Codina-Sola, M, Trujillano, L, Abuli, A, Rovira-Moreno, E, Munoz-Cabello, P, Campos, B, Fernandez-Alvarez, P, Palau, D, Carrasco, E, Valenzuela, I, Cueto-Gonzalez, AM, Lasa-Aranzasti, A, Limeres, J, Leno-Colorado, J, Costa-Roger, M, Moles-Fernandez, A, Balmana, J, Diez, O, Cusco, I, Garcia-Arumi, E, Tizzano, EF. An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history. EUROPEAN JOURNAL OF HUMAN GENETICS. 2023; 31(2)DOI:10.1038/s41431-022-01240-5. PMID:36446894. IF:3.700(Q2/3D).

01/01/2023 An European overview of genetic counselling supervision provision

Paneque M., Guimarães L., Bengoa J., Pasalodos S., Cordier C., Esteban I., Lemos C., Moldovan R., Serra-Juhé C.. An European overview of genetic counselling supervision provision. European Journal of Medical Genetics. 2023; 66(4)DOI:10.1016/j.ejmg.2023.104710. PMID:36731744. IF:1.600(Q4/8D).

01/01/2023 A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

Rodríguez Cruz P.M., Ravenscroft G., Natera D., Carr A., Manzur A., Liu W.W., Vella N.R., Jericó I., Gonzalez-Quereda L., Gallano P., Montalto S.A., Davis M.R., Lamont P.J., Laing N.G., Bourque P., Nascimento A., Muntoni F., Polavarapu K., Lochmüller H., Palace J., Beeson D.. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1. NEUROMUSCULAR DISORDERS. 2023; 33(2)DOI:10.1016/j.nmd.2022.12.011. PMID:36634413. IF:2.700(Q2/4D).

31/08/2022 On the necessity of recognizing so-called Core professional groups within the genetic healthcare in Europe (vol 34, pg 81, 2022)

Paneque, M, Juhe, CS, Melegh, B, Carreira, I, Moog, U, Liehr, T. On the necessity of recognizing so-called Core professional groups within the genetic healthcare in Europe (vol 34, pg 81, 2022). Medizinische Genetik. 2022; 34(2)DOI:10.1515/medgen-2022-2122. PMID:. IF:1.100(Q4/10D).

01/08/2022 A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome

Lucia-Campos, C, Valenzuela, I, Latorre-Pellicer, A, Ros-Pardo, D, Gil-Salvador, M, Arnedo, M, Puisac, B, Castells, N, Plaja, A, Tenes, A, Cusco, I, Trujillano, L, Ramos, FJ, Tizzano, EF, Gomez-Puertas, P, Pie, J. A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome. Genes. 2022; 13(8)DOI:10.3390/genes13081413. PMID:36011323. IF:3.500(Q2/4D).

01/01/2022 Eficacia y seguridad de dosis altas de irinotecán en pacientes con cáncer colorrectal metastásico tratados con el esquema FOLFIRI en función del genotipo de UGT1A1: Revisión sistemática

Miarons M., Riera P., García-Gil S., Gutiérrez-Nicolás F.. Eficacia y seguridad de dosis altas de irinotecán en pacientes con cáncer colorrectal metastásico tratados con el esquema FOLFIRI en función del genotipo de UGT1A1: Revisión sistemática. Farmacia Hospitalaria. 2022; 46(4)DOI:10.7399/fh.11736. PMID:36183220. IF:(Q/D).

31/07/2025 Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome

Felipe, DF, Casas-Alba, D, Sadok, SH, Fernández, MT, Vega-Hanna, L, Plaza, L, Villa, AV, Armstrong, J, Guillén-Navarro, E, Martínez-Monseny, AF. Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome. Genes. 2025; 16(8)DOI:10.3390/genes16080925. PMID:40869974. IF:2.800(Q2/5D).

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).