Detalhe da pesquisa
1.
Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samples.
Int J Legal Med
; 137(5): 1569-1581, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36773088
2.
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.
Int J Mol Sci
; 22(7)2021 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33917638
3.
A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.
J Mol Cell Cardiol
; 141: 17-29, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32201174
4.
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
5.
Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.
Hum Mutat
; 40(6): 734-741, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30908796
6.
Functional analysis of DES-p.L398P and RBM20-p.R636C.
Genet Med
; 21(5): 1246-1247, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30262925
7.
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Science
; 377(6606): eabo1984, 2022 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35926050
8.
The emergency medical service has a crucial role to unravel the genetics of sudden cardiac arrest in young, out of hospital resuscitated patients: Interim data from the MAP-IT study.
Resuscitation
; 168: 176-185, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34389451
9.
The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic Cardiomyopathy.
Can J Cardiol
; 37(6): 857-866, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33290826
10.
The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy.
Genes (Basel)
; 12(1)2021 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33478057
11.
Distinct Myocardial Transcriptomic Profiles of Cardiomyopathies Stratified by the Mutant Genes.
Genes (Basel)
; 11(12)2020 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33260757
12.
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
J Clin Med
; 9(4)2020 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32235386
13.
Incorporation of desmocollin-2 into the plasma membrane requires N-glycosylation at multiple sites.
FEBS Open Bio
; 9(5): 996-1007, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30942563
14.
Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.
Genes (Basel)
; 10(11)2019 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31718026