Publicacións nas que colabora con Juan Pablo Ochoa (21)
2024
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Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies
Genes, Vol. 15, Núm. 6
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Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives
Journal of the American College of Cardiology, Vol. 83, Núm. 17, pp. 1640-1651
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Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy
JACC: Clinical Electrophysiology, Vol. 10, Núm. 6, pp. 1178-1190
2023
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Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain
Amyloid, Vol. 30, Núm. 2, pp. 199-207
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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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Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non-ischaemic dilated cardiomyopathy
European Journal of Heart Failure, Vol. 24, Núm. 7, pp. 1183-1196
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Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant
Revista Espanola de Cardiologia, Vol. 75, Núm. 3, pp. 242-250
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Natural History of MYH7-Related Dilated Cardiomyopathy
Journal of the American College of Cardiology, Vol. 80, Núm. 15, pp. 1447-1461
2021
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Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy
Journal of the American College of Cardiology, Vol. 78, Núm. 17, pp. 1682-1699
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Association of Left Ventricular Systolic Dysfunction among Carriers of Truncating Variants in Filamin C with Frequent Ventricular Arrhythmia and End-stage Heart Failure
JAMA Cardiology, Vol. 6, Núm. 8, pp. 891-901
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Clinical utility of genetic testing in patients with dilated cardiomyopathy
Medicina Clinica, Vol. 156, Núm. 10, pp. 485-495
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Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy
European Journal of Heart Failure, Vol. 23, Núm. 8, pp. 1276-1286
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Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry
Revista Espanola de Cardiologia, Vol. 74, Núm. 3, pp. 216-224
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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Prognostic implications of pathogenic truncating variants in the TTN gene
International Journal of Cardiology, Vol. 316, pp. 180-183
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The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals
European Journal of Medical Genetics, Vol. 63, Núm. 12
2019
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First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene
Revista Espanola de Cardiologia, Vol. 72, Núm. 7, pp. 585-587
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Letter by Barriales-Villa et al Regarding Article, "development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies"
Circulation
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
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Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy
Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2457-2467