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Prevalence and clinical outcomes of dystrophin‐associated dilated cardiomyopathy without severe skeletal myopathy

European journal of heart failure, 2021-08, Vol.23 (8), p.1276-1286

2021

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Lamin A/C Ablation Restricted to Vascular Smooth Muscle Cells, Cardiomyocytes, and Cardiac Fibroblasts Causes Cardiac and Vascular Dysfunction

International journal of molecular sciences, 2023-07, Vol.24 (13), p.11172

2023

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Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits

Stem cell reports, 2018-11, Vol.11 (5), p.1226-1243

2018

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Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders

PloS one, 2016-04, Vol.11 (4), p.e0153851-e0153851

2016

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Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

BMC medical genetics, 2010-04, Vol.11 (1), p.67-67, Article 67

2010

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Congenital coronary artery anomalies in the adult: A new practical viewpoint

Clinical cardiology (Mahwah, N.J.), 2005-08, Vol.28 (8), p.359-359

2005

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Phase 2 Study of Aficamten in Patients With Obstructive Hypertrophic Cardiomyopathy

Journal of the American College of Cardiology, 2023-01, Vol.81 (1), p.34-45

2023

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Diagnosing transthyretin amyloidosis in patients with known genetic cardiomyopathies – opportunities and open questions. Response

Revista española de cardiología (English ed.), 2024-06, Vol.77 (6), p.505-506

2024

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Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy

The Journal of biological chemistry, 2021-07, Vol.297 (1), p.100854-100854, Article 100854

2021

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Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids)

JAMA cardiology, 2019-09, Vol.4 (9), p.918

2019

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Diagnosis of transthyretin amyloidosis in patients with established cardiomyopathy

Revista española de cardiología (English ed.), 2024-04, Vol.77 (4), p.347-349

2024

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Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

Journal of the American College of Cardiology, 2024-04, Vol.83 (17), p.1640

2024

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Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

European heart journal, 2023-12, Vol.44 (48), p.5064-5073

2023

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The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy

European journal of preventive cardiology, 2022-03, Vol.29 (4), p.645

2022

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Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

Heart (British Cardiac Society), 2015-07, Vol.101 (13), p.1047-1053

2015

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Transient left ventricular apical ballooning and outflow tract obstruction

Journal of the American College of Cardiology, 2003-09, Vol.42 (6), p.1143-1144

2003

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Prognostic implications of pathogenic truncating variants in the TTN gene

International journal of cardiology, 2020-10, Vol.316, p.180-183

2020

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Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

Circulation. Arrhythmia and electrophysiology, 2022-05, Vol.15 (5), p.e010075-e010075

2022

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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, 2021-08, Vol.6 (8), p.891

2021

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2023 ESC Guidelines for the management of cardiomyopathies

Giornale italiano di cardiologia (2006), 2023-11, Vol.24 (11 Suppl 1), p.e1

2023

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ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium

Revista española de cardiología (English ed.), 2023-05, Vol.76 (5), p.301-311

2023

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First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene

Revista española de cardiología (English ed.), 2019-07, Vol.72 (7), p.585-587

2019

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Comments on the 2014 ESC Guidelines on the Diagnosis and Management of Hypertrophic Cardiomyopathy. A Critical View From the Perspective of Spanish Cardiology

Revista española de cardiología (English ed.), 2015-01, Vol.68 (1), p.4-9

2015

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The p.Arg118Cys Variant in the GLA Gene Does Not Cause Fabry Disease. More Evidence

Revista española de cardiología (English ed.), 2018-10, Vol.71 (10), p.871-873

2018

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Bicuspid aortic valve and coronary anomalies

Circulation (New York, N.Y.), 2003-04, Vol.107 (16), p.e105; author reply e105-e105; author reply e105

2003

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Prevalence and clinical outcomes of dystrophin‐associated dilated cardiomyopathy without severe skeletal myopathy

Lamin A/C Ablation Restricted to Vascular Smooth Muscle Cells, Cardiomyocytes, and Cardiac Fibroblasts Causes Cardiac and Vascular Dysfunction

Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits

Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

Congenital coronary artery anomalies in the adult: A new practical viewpoint

Phase 2 Study of Aficamten in Patients With Obstructive Hypertrophic Cardiomyopathy

Diagnosing transthyretin amyloidosis in patients with known genetic cardiomyopathies – opportunities and open questions. Response

Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy

Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids)

Diagnosis of transthyretin amyloidosis in patients with established cardiomyopathy

Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

Transient left ventricular apical ballooning and outflow tract obstruction

Prognostic implications of pathogenic truncating variants in the TTN gene

Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure

2023 ESC Guidelines for the management of cardiomyopathies

ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium

First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene

Comments on the 2014 ESC Guidelines on the Diagnosis and Management of Hypertrophic Cardiomyopathy. A Critical View From the Perspective of Spanish Cardiology

The p.Arg118Cys Variant in the GLA Gene Does Not Cause Fabry Disease. More Evidence

Bicuspid aortic valve and coronary anomalies

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