Unidade de investigación
Servicio
Centro Nacional de Investigaciones Cardiovasculares Carlos III
Madrid, EspañaPublicacións en colaboración con investigadores/as de Centro Nacional de Investigaciones Cardiovasculares Carlos III (27)
2024
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p63 controls metabolic activation of hepatic stellate cells and fibrosis via an HER2-ACC1 pathway
Cell Reports Medicine, Vol. 5, Núm. 2
2023
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A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve
Circulation, Vol. 147, Núm. 1, pp. 47-65
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A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family
Proceedings of the National Academy of Sciences of the United States of America, Vol. 120
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iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy
Circulation Research, Vol. 133, Núm. 2, pp. 108-119
2022
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Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 23, Núm. 1-2, pp. 25-34
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European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases
Heart Rhythm, Vol. 19, Núm. 7, pp. e1-e60
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European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, Vol. 24, Núm. 8, pp. 1307-1367
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European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases
Journal of Arrhythmia, Vol. 38, Núm. 4, pp. 491-553
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Inhibition of ATG3 ameliorates liver steatosis by increasing mitochondrial function
Journal of Hepatology, Vol. 76, Núm. 1, pp. 11-24
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Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia Treated with β-Blockers
JAMA Cardiology, Vol. 7, Núm. 5, pp. 504-512
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Specialized Proresolving Mediators Protect Against Experimental Autoimmune Myocarditis by Modulating Ca2+ Handling and NRF2 Activation
JACC: Basic to Translational Science, Vol. 7, Núm. 6, pp. 544-560
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Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study
Journal of Neurology, Vol. 269, Núm. 6, pp. 3189-3203
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mtDNA variability determines spontaneous joint aging damage in a conplastic mouse model
Aging, Vol. 14, Núm. 15, pp. 5966-5983
2021
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Mitochondrial DNA impact on joint damaged process in a conplastic mouse model after being surgically induced with osteoarthritis
Scientific reports, Vol. 11, Núm. 1, pp. 9112
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Nanomechanical Phenotypes in Cardiac Myosin-Binding Protein C Mutants That Cause Hypertrophic Cardiomyopathy
ACS Nano, Vol. 15, Núm. 6, pp. 10203-10216
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Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy
Journal of Biological Chemistry, Vol. 297, Núm. 1
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Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4
Journal of Neurology, Vol. 268, Núm. 7, pp. 2429-2440
2020
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Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis
Journal of the American College of Cardiology, Vol. 76, Núm. 2, pp. 186-197
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Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1
Journal of the American College of Cardiology, Vol. 75, Núm. 15, pp. 1772-1784
2018
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Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations
Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2471-2481