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RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

Nature medicine, 2012-05, Vol.18 (5), p.766-773

2012

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Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart

Disease models & mechanisms, 2020-12, Vol.13 (12)

2020

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Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1105-1111

2013

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Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy

Revista portuguesa de cardiologia, 2020-06, Vol.39 (6), p.317-327

2020

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Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers

European journal of heart failure, 2013-04, Vol.15 (4), p.376-384

2013

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TIP30 counteracts cardiac hypertrophy and failure by inhibiting translational elongation

EMBO molecular medicine, 2019-10, Vol.11 (10), p.e10018-n/a

2019

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Burst-Like Transcription of Mutant and Wildtype MYH7 -Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy

Frontiers in physiology, 2018-04, Vol.9, p.359-359

2018

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AQUA Mutant Protein Quantification of Endomyocardial Biopsy-Sized Samples From a Patient With Hypertrophic Cardiomyopathy

Frontiers in cardiovascular medicine, 2022-02, Vol.9, p.816330-816330

2022

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Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects

PloS one, 2011-12, Vol.6 (12), p.e28872-e28872

2011

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Connective tissue growth factor overexpression in cardiomyocytes promotes cardiac hypertrophy and protection against pressure overload

PloS one, 2009-08, Vol.4 (8), p.e6743-e6743

2009

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Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

Human molecular genetics, 2008-09, Vol.17 (18), p.2753-2765

2008

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DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

Human mutation, 2008-06, Vol.29 (6), p.879-885

2008

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Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes

Heart rhythm, 2009-04, Vol.6 (4), p.480-486

2009

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Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers

Journal of the American College of Cardiology, 2012-01, Vol.59 (5), p.493-500

2012

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Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

European heart journal, 2010-11, Vol.31 (22), p.2715-2726

2010

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Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes

Journal of molecular and cellular cardiology, 2017-12, Vol.113, p.9-21

2017

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Alterations of sarcomeric stoichiometry by nonsense mediated decay of MYBPC3-mRNA in hypertrophic cardiomyopathy patients with truncation mutations

Biophysical journal, 2022-02, Vol.121 (3), p.435a-435a

2022

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Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers: A European Cohort Study

Journal of the American College of Cardiology, 2012-01, Vol.59 (5), p.493-500

2012

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Correction: Connective Tissue Growth Factor Overexpression in Cardiomyocytes Promotes Cardiac Hypertrophy and Protection against Pressure Overload

PloS one, 2009-09, Vol.4 (9)

2009

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Nonsense mediated decay factor UPF3B is associated with cMyBP-C haploinsufficiency in hypertrophic cardiomyopathy patients

Journal of molecular and cellular cardiology, 2023-12, Vol.185, p.26-37

2023

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Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1105-1111

2013

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Kardiomyopathien bei Muskeldystrophien

Aktuelle Kardiologie, 2017-12, Vol.6 (6), p.454-460

2017

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Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot

Human molecular genetics, 2014-06, Vol.23 (12), p.3115-3128

2014

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Myosin and Mybp-C-Mutations in Hypertrophic Cardiomyopathy: Variable Effects on Calcium Sensitivity and Contractile Imbalance from Cell to Cell

Biophysical journal, 2019-02, Vol.116 (3), p.262a-262a

2019

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Growth Hormone Treatment in Dilated Cardiomyopathy

Journal of cardiac surgery, 2001-03, Vol.16 (2), p.127-131

2001

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RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers

TIP30 counteracts cardiac hypertrophy and failure by inhibiting translational elongation

Burst-Like Transcription of Mutant and Wildtype MYH7 -Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy

AQUA Mutant Protein Quantification of Endomyocardial Biopsy-Sized Samples From a Patient With Hypertrophic Cardiomyopathy

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects

Connective tissue growth factor overexpression in cardiomyocytes promotes cardiac hypertrophy and protection against pressure overload

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes

Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers

Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes

Alterations of sarcomeric stoichiometry by nonsense mediated decay of MYBPC3-mRNA in hypertrophic cardiomyopathy patients with truncation mutations

Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers: A European Cohort Study

Correction: Connective Tissue Growth Factor Overexpression in Cardiomyocytes Promotes Cardiac Hypertrophy and Protection against Pressure Overload

Nonsense mediated decay factor UPF3B is associated with cMyBP-C haploinsufficiency in hypertrophic cardiomyopathy patients

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

Kardiomyopathien bei Muskeldystrophien

Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot

Myosin and Mybp-C-Mutations in Hypertrophic Cardiomyopathy: Variable Effects on Calcium Sensitivity and Contractile Imbalance from Cell to Cell

Growth Hormone Treatment in Dilated Cardiomyopathy

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