Ramón
Brugada Terradellas
Publicaciones en las que colabora con Ramón Brugada Terradellas (17)
2024
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Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy
International Journal of Molecular Sciences, Vol. 25, Núm. 7
2023
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Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death
Frontiers in Medicine, Vol. 10
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Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort
International Journal of Legal Medicine, Vol. 137, Núm. 2, pp. 345-351
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Role of microRNAs in arrhythmogenic cardiomyopathy: translation as biomarkers into clinical practice
Translational Research, Vol. 259, pp. 72-82
2022
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Clinical impact of rare variants associated with inherited channelopathies: a 5-year update
Human Genetics, Vol. 141, Núm. 10, pp. 1579-1589
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Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes
Journal of Personalized Medicine, Vol. 12, Núm. 2
2021
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Malignant arrhythmogenic role associated with rbm20: A comprehensive interpretation focused on a personalized approach
Journal of Personalized Medicine, Vol. 11, Núm. 2, pp. 1-17
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Rare variants associated with arrhythmogenic cardiomyopathy: Reclassification five years later
Journal of Personalized Medicine, Vol. 11, Núm. 3, pp. 1-14
2020
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Genetic variants as sudden-death risk markers in inherited arrhythmogenic syndromes: Personalized genetic interpretation
Journal of Clinical Medicine, Vol. 9, Núm. 6, pp. 1-9
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Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes
EBioMedicine, Vol. 54
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Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?
Forensic Science International: Genetics, Vol. 47
2018
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Plasma microRNAs as biomarkers for Lamin A/C-related dilated cardiomyopathy
Journal of Molecular Medicine, Vol. 96, Núm. 8, pp. 845-856
2017
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Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers
International Journal of Cardiology, Vol. 228, pp. 870-880
2016
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Familial dilated cardiomyopathy caused by a novel frameshift in the BAG3 gene
PLoS ONE, Vol. 11, Núm. 7
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Genetic basis of dilated cardiomyopathy
International Journal of Cardiology, Vol. 224, pp. 461-472
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Proteomic identification of putative biomarkers for early detection of sudden cardiac death in a family with a LMNA gene mutation causing dilated cardiomyopathy
Journal of Proteomics, Vol. 148, pp. 75-84
2015
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A novel mutation in lamin A/C causing familial dilated cardiomyopathy associated with sudden cardiac death
Journal of Cardiac Failure, Vol. 21, Núm. 3, pp. 217-225