Detalhe da pesquisa
1.
RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling.
Circulation
; 138(13): 1330-1342, 2018 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29650543
2.
A Comparison of Heritability Estimates by Classical Twin Modeling and Based on Genome-Wide Genetic Relatedness for Cardiac Conduction Traits.
Twin Res Hum Genet
; 20(6): 489-498, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29039294
3.
Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.
Neuropathol Appl Neurobiol
; 40(6): 670-85, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24750229
4.
Heritability in genetic heart disease: the role of genetic background.
Open Heart
; 6(1): e000929, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31245010
5.
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
Eur J Heart Fail
; 19(4): 512-521, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27813223
6.
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.
Circ Cardiovasc Genet
; 10(4)2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28790152