Detalhe da pesquisa
1.
Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern.
Int J Mol Sci
; 23(12)2022 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743126
2.
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Hum Mutat
; 41(11): 1931-1943, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32840935
3.
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
Hum Mol Genet
; 19(23): 4595-607, 2010 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20829228
4.
In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells.
Cell Physiol Biochem
; 28(4): 579-92, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22178870
5.
The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy.
Genes (Basel)
; 12(6)2021 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34201072
6.
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
PLoS One
; 12(12): e0189489, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29253866
7.
In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations.
PLoS One
; 7(10): e47097, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23071725
8.
Molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Nat Clin Pract Cardiovasc Med
; 5(10): E1; author reply E2, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18813333