Detalhe da pesquisa
1.
Trafficking and localisation to the plasma membrane of Nav 1.5 promoted by the ß2 subunit is defective due to a ß2 mutation associated with Brugada syndrome.
Biol Cell
; 109(7): 273-291, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28597987
2.
Contribution of Cardiac Sodium Channel ß-Subunit Variants to Brugada Syndrome.
Circ J
; 79(10): 2118-29, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26179811
3.
Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death.
Int J Mol Sci
; 16(10): 25773-87, 2015 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26516846
4.
A missense mutation in the sodium channel ß2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.
Hum Mutat
; 34(7): 961-6, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23559163
5.
An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders.
Front Cell Dev Biol
; 8: 528742, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33134290
6.
Sudden infant death as the most severe phenotype caused by genetic modulation in a family with atrial fibrillation.
Forensic Sci Int Genet
; 43: 102159, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31522018
7.
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
PLoS One
; 12(8): e0181465, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771489
8.
Large Genomic Imbalances in Brugada Syndrome.
PLoS One
; 11(9): e0163514, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27684715
9.
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
PLoS One
; 10(7): e0132888, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26173111
10.
Genetic analysis, in silico prediction, and family segregation in long QT syndrome.
Eur J Hum Genet
; 23(1): 79-85, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24667783
11.
A missense mutation in the sodium channel ß1b subunit reveals SCN1B as a susceptibility gene underlying long QT syndrome.
Heart Rhythm
; 11(7): 1202-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24662403
12.
Analysis of the arrhythmogenic substrate in human heart failure.
Cardiovasc Pathol
; 22(2): 133-40, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23036686
13.
A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.
PLoS One
; 8(1): e53220, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23308164
14.
Analysis of mRNA from human heart tissue and putative applications in forensic molecular pathology.
Forensic Sci Int
; 203(1-3): 99-105, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20705404