Detalhe da pesquisa
1.
Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
Eur Heart J
; 44(48): 5064-5073, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37639473
2.
Structure determination and analysis of titin A-band fibronectin type III domains provides insights for disease-linked variants and protein oligomerisation.
J Struct Biol
; 215(3): 108009, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549721
3.
Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes.
J Med Genet
; 59(8): 768-775, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400558
4.
Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator.
Eur Heart J
; 43(32): 3053-3067, 2022 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35766183
5.
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.
Circulation
; 144(1): 7-19, 2021 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33947203
6.
Identification of a Multiplex Biomarker Panel for Hypertrophic Cardiomyopathy Using Quantitative Proteomics and Machine Learning.
Mol Cell Proteomics
; 19(1): 114-127, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31243064
7.
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Eur Heart J
; 42(32): 3063-3073, 2021 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34263907
8.
Evidence From Family Studies for Autoimmunity in Arrhythmogenic Right Ventricular Cardiomyopathy: Associations of Circulating Anti-Heart and Anti-Intercalated Disk Autoantibodies With Disease Severity and Family History.
Circulation
; 141(15): 1238-1248, 2020 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32114801
9.
The genetic architecture of Plakophilin 2 cardiomyopathy.
Genet Med
; 23(10): 1961-1968, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34120153
10.
The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy.
Eur Heart J
; 41(14): 1393-1400, 2020 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32191298
11.
Hypertrophy Regression With N-Acetylcysteine in Hypertrophic Cardiomyopathy (HALT-HCM): A Randomized, Placebo-Controlled, Double-Blind Pilot Study.
Circ Res
; 122(8): 1109-1118, 2018 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29540445
12.
A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort.
Int J Mol Sci
; 21(4)2020 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32102357
13.
Genetic basis of arrhythmogenic cardiomyopathy.
Curr Opin Cardiol
; 33(3): 276-281, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29543670
14.
The structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants.
Bioinformatics
; 32(19): 2947-55, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27318203
15.
Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy.
Genet Med
; 23(10): 2014, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34408292
16.
Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy.
Europace
; 18(4): 610-6, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25825460
17.
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
Europace
; 18(6): 888-96, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26498160
18.
Atlas of the clinical genetics of human dilated cardiomyopathy.
Eur Heart J
; 36(18): 1123-35a, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25163546
19.
Clinical Significance of Epsilon Waves in Arrhythmogenic Cardiomyopathy.
J Cardiovasc Electrophysiol
; 26(11): 1204-1210, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26183028
20.
Abnormal septal convexity into the left ventricle occurs in subclinical hypertrophic cardiomyopathy.
J Cardiovasc Magn Reson
; 17: 64, 2015 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26219660