Detalhe da pesquisa
1.
RBM20 Regulates Circular RNA Production From the Titin Gene.
Circ Res
; 119(9): 996-1003, 2016 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27531932
2.
The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins.
Exp Cell Res
; 319(19): 3010-9, 2013 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24001739
3.
Frequency of misdiagnosis in hypertrophic cardiomyopathy.
Eur Heart J Qual Care Clin Outcomes
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38664062
4.
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
Hum Mutat
; 34(5): 697-705, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23381804
5.
Metoprolol Improves Left Ventricular Longitudinal Strain at Rest and during Exercise in Obstructive Hypertrophic Cardiomyopathy.
J Am Soc Echocardiogr
; 36(2): 196-204, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36444740
6.
Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives.
J Am Coll Cardiol
; 82(18): 1751-1761, 2023 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37879779
7.
Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants.
Circ Genom Precis Med
; 16(5): 434-441, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37593875
8.
Effects of Metoprolol on Exercise Hemodynamics in Patients With Obstructive Hypertrophic Cardiomyopathy.
J Am Coll Cardiol
; 79(16): 1565-1575, 2022 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35450573
9.
The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy.
Eur J Prev Cardiol
; 29(4): 645-653, 2022 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772274
10.
Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy.
Circ Arrhythm Electrophysiol
; 15(5): e010075, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35491873
11.
Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy.
J Am Coll Cardiol
; 79(20): 1986-1997, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35589160
12.
Randomized Trial of Metoprolol in Patients With Obstructive Hypertrophic Cardiomyopathy.
J Am Coll Cardiol
; 78(25): 2505-2517, 2021 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34915981
13.
Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy.
Eur J Heart Fail
; 23(8): 1276-1286, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050592
14.
Clinical and Genetic Investigations of 109 Index Patients With Dilated Cardiomyopathy and 445 of Their Relatives.
Circ Heart Fail
; 13(10): e006701, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33019804
15.
Early-onset atrial fibrillation patients show reduced left ventricular ejection fraction and increased atrial fibrosis.
Sci Rep
; 10(1): 10039, 2020 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32572052
16.
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
J Am Coll Cardiol
; 76(2): 186-197, 2020 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32646569
17.
Pathogenic RBM20-Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy.
Circ Heart Fail
; 12(3): e005700, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30871348
18.
Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids).
JAMA Cardiol
; 4(9): 918-927, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31411652
19.
The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.
Eur J Heart Fail
; 20(10): 1404-1412, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29943882
20.
A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.
Cardiovasc Res
; 112(1): 452-63, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27496873