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Case report: cosegregation of a TPM1 in-frame deletion (p.Lys7del) with familial non-compaction cardiomyopathy (NCCM).
- Published in:
- 2024
- By:
- Publication type:
- Letter
The W101C KCNJ5 Mutation Induces Slower Pacing by Constitutively Active GIRK Channels in hiPSC-Derived Cardiomyocytes.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 20, p. 15290, doi. 10.3390/ijms242015290
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- Publication type:
- Article
Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 14215, doi. 10.3390/ijms232214215
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- Publication type:
- Article
Detection of Patients with Congenital and Often Concealed Long-QT Syndrome by Novel Deep Learning Models.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1135, doi. 10.3390/jpm12071135
- By:
- Publication type:
- Article
Investigation on Sudden Unexpected Death in the Young (SUDY) in Europe: results of the European Heart Rhythm Association Survey.
- Published in:
- 2022
- By:
- Publication type:
- journal article
A rare cause of sudden unexpected death syndrome (SUDS) in the first year of life: endomyocardial fibroelastosis (EFE) due to two compound heterozygous MYBPC3 mutations.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Long, longer, long QT syndrome: what makes the difference?
- Published in:
- Cardiovascular Research, 2021, v. 117, n. 3, p. 637, doi. 10.1093/cvr/cvab025
- By:
- Publication type:
- Article
New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-of-Function Mutation.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8611, doi. 10.3390/ijms21228611
- By:
- Publication type:
- Article
An autoantibody profile detects Brugada syndrome and identifies abnormally expressed myocardial proteins.
- Published in:
- European Heart Journal, 2020, v. 41, n. 30, p. 2878, doi. 10.1093/eurheartj/ehaa383
- By:
- Publication type:
- Article
Arrhythmogenic right ventricular cardiomyopathy: Evolving from unique clinical features to a complex pathophysiological concept.
- Published in:
- Herz, 2020, v. 45, n. 3, p. 243, doi. 10.1007/s00059-020-04907-1
- By:
- Publication type:
- Article
In Vitro Analyses of Novel HCN4 Gene Mutations.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2018, v. 49, n. 3, p. 1238, doi. 10.1159/000493301
- By:
- Publication type:
- Article
Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease–Causing Mutation.
- Published in:
- Journal of the American Heart Association, 2017, v. 6, n. 7, p. 1, doi. 10.1161/JAHA.116.005135
- By:
- Publication type:
- Article
Sodium permeable and 'hypersensitive' TREK-1 channels cause ventricular tachycardia.
- Published in:
- EMBO Molecular Medicine, 2017, v. 9, n. 4, p. 403, doi. 10.15252/emmm.201606690
- By:
- Publication type:
- Article
(Tpeak - Tend)/QRS and (Tpeak - Tend)/(QT × QRS) as risk markers in Brugada syndrome: authors' reply.
- Published in:
- 2017
- By:
- Publication type:
- letter
Tpeak-Tend interval and Tpeak-Tend/QT ratio in patients with Brugada syndrome.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Early repolarization pattern: a marker of increased risk in patients with catecholaminergic polymorphic ventricular tachycardia.
- Published in:
- 2016
- By:
- Publication type:
- journal article
KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting.
- Published in:
- Nature Communications, 2016, v. 7, n. 10, p. 12795, doi. 10.1038/ncomms12795
- By:
- Publication type:
- Article
Improved Clinical Risk Stratification in Patients with Long QT Syndrome? Novel Insights from Multi-Channel ECGs.
- Published in:
- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0158085
- By:
- Publication type:
- Article
Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation.
- Published in:
- Basic Research in Cardiology, 2016, v. 111, n. 3, p. 36, doi. 10.1007/s00395-016-0557-2
- By:
- Publication type:
- Article
Human iPS cell model of type 3 long QT syndrome recapitulates drug-based phenotype correction.
- Published in:
- Basic Research in Cardiology, 2016, v. 111, n. 2, p. 14, doi. 10.1007/s00395-016-0530-0
- By:
- Publication type:
- Article
Estradiol regulates human QT-interval: acceleration of cardiac repolarization by enhanced KCNH2 membrane trafficking.
- Published in:
- European Heart Journal, 2016, v. 37, n. 7, p. 640, doi. 10.1093/eurheartj/ehv371
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- Publication type:
- Article
NDRG2 phosphorylation provides negative feedback for SGK1-dependent regulation of a kainate receptor in astrocytes.
- Published in:
- Frontiers in Cellular Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fncel.2015.00387
- By:
- Publication type:
- Article
Cardiovascular disease and sudden cardiac death: between genetics and genomics.
- Published in:
- European Heart Journal, 2015, v. 36, n. 26, p. 1643, doi. 10.1093/eurheartj/ehv173
- By:
- Publication type:
- Article
The role of acid-sensitive two-pore domain potassium channels in cardiac electrophysiology: focus on arrhythmias.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2015, v. 467, n. 5, p. 1055, doi. 10.1007/s00424-014-1637-5
- By:
- Publication type:
- Article
Structural basis of PI(4,5)P-dependent regulation of GluA1 by phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP5K2A).
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2014, v. 466, n. 10, p. 1885, doi. 10.1007/s00424-013-1424-8
- By:
- Publication type:
- Article
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 7, p. 937, doi. 10.15252/emmm.201303783
- By:
- Publication type:
- Article
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
- Published in:
- Nature Genetics, 2013, v. 45, n. 11, p. 1409, doi. 10.1038/ng1113-1409b
- By:
- Publication type:
- Article
Genome Wide Analysis of Drug-Induced Torsades de Pointes: Lack of Common Variants with Large Effect Sizes.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078511
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- Publication type:
- Article
Coxsackievirus B3 modulates cardiac ion channels.
- Published in:
- FASEB Journal, 2013, v. 27, n. 10, p. 4108, doi. 10.1096/fj.13-230193
- By:
- Publication type:
- Article
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
- Published in:
- Nature Genetics, 2013, v. 45, n. 9, p. 1044, doi. 10.1038/ng.2712
- By:
- Publication type:
- Article
The International Serious Adverse Events Consortium (iSAEC) phenotype standardization project for drug-induced torsades de pointes.
- Published in:
- European Heart Journal, 2013, v. 34, n. 26, p. 1958, doi. 10.1093/eurheartj/ehs172
- By:
- Publication type:
- Article
A Common Structural Component for β-Subunit Mediated Modulation of Slow Inactivation in Different K<sub>V</sub> Channels.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2013, v. 31, n. 6, p. 968, doi. 10.1159/000350115
- By:
- Publication type:
- Article
A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067963
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- Publication type:
- Article
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.
- Published in:
- Basic Research in Cardiology, 2013, v. 108, n. 3, p. 1, doi. 10.1007/s00395-013-0353-1
- By:
- Publication type:
- Article
T-wave integral: an electrocardiographic marker discriminating patients with arrhythmogenic right ventricular cardiomyopathy from patients with right ventricular outflow tract tachycardia.
- Published in:
- EP: Europace, 2013, v. 15, n. 4, p. 582, doi. 10.1093/europace/eus311
- By:
- Publication type:
- Article
Totally Subcutaneous Implantable Cardioverter Defibrillator with an Alternative, Right Parasternal, Electrode Placement.
- Published in:
- Pacing & Clinical Electrophysiology, 2012, v. 35, n. 9, p. e254, doi. 10.1111/j.1540-8159.2011.03043.x
- By:
- Publication type:
- Article
Overlapping Cardiac Phenotype Associated with a Familial Mutation in the Voltage Sensor of the KCNQ1 Channel.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2012, v. 29, n. 5/6, p. 809, doi. 10.1159/000178470
- By:
- Publication type:
- Article
Role of implantable cardioverter defibrillator therapy in patients with acquired long QT syndrome: A long-term follow-up.
- Published in:
- EP: Europace, 2012, v. 14, n. 3, p. 396, doi. 10.1093/europace/eur316
- By:
- Publication type:
- Article
Microvascular dysfunction in nonfailing arrhythmogenic right ventricular cardiomyopathy.
- Published in:
- European Journal of Nuclear Medicine & Molecular Imaging, 2012, v. 39, n. 3, p. 416, doi. 10.1007/s00259-011-1985-8
- By:
- Publication type:
- Article
Corrigendum to: ‘HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies’ [Europace 2011;13:1077–109, doi: 10.1093/europace/eur245].
- Published in:
- EP: Europace, 2012, v. 14, n. 2, p. 277, doi. 10.1093/europace/eur413
- By:
- Publication type:
- Article
Mutational spectrum in the Ca<sup>2+</sup>-activated cation channel gene TRPM4 in patients with cardiac conductance disturbances.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 109, doi. 10.1002/humu.21599
- By:
- Publication type:
- Article
Impaired cardiac sympathetic innervation in symptomatic patients with long QT syndrome.
- Published in:
- European Journal of Nuclear Medicine & Molecular Imaging, 2011, v. 38, n. 10, p. 1899, doi. 10.1007/s00259-011-1852-7
- By:
- Publication type:
- Article
Cardiac Sympathetic Dysfunction in Genotyped Patients with Arrhythmogenic Right Ventricular Cardiomyopathy and Risk of Recurrent Ventricular Tachyarrhythmias.
- Published in:
- Journal of Nuclear Medicine, 2011, v. 52, n. 10, p. 1559, doi. 10.2967/jnumed.111.088997
- By:
- Publication type:
- Article
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies.
- Published in:
- EP: Europace, 2011, v. 13, n. 8, p. 1077, doi. 10.1093/europace/eur245
- By:
- Publication type:
- Article
Successful treatment of catecholaminergic polymorphic ventricular tachycardia with flecainide: a case report and review of the current literature.
- Published in:
- EP: Europace, 2011, v. 13, n. 6, p. 897, doi. 10.1093/europace/euq517
- By:
- Publication type:
- Article
Ivabradine in patients with inappropriate sinus tachycardia.
- Published in:
- Naunyn-Schmiedeberg's Archives of Pharmacology, 2010, v. 382, n. 5/6, p. 483, doi. 10.1007/s00210-010-0565-y
- By:
- Publication type:
- Article
A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. E1609, doi. 10.1002/humu.21302
- By:
- Publication type:
- Article
Spontaneous Brugada electrocardiogram patterns are rare in the German general population: results from the KORA study.
- Published in:
- EP: Europace, 2009, v. 11, n. 10, p. 1338, doi. 10.1093/europace/eup205
- By:
- Publication type:
- Article
Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Atrial Arrhythmias in Long-QT Syndrome under Daily Life Conditions: A Nested Case Control Study.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2009, v. 20, n. 4, p. 401, doi. 10.1111/j.1540-8167.2008.01339.x
- By:
- Publication type:
- Article