Detalhe da pesquisa
1.
Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse.
Mol Ther
; 28(1): 171-179, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607542
2.
New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.
J Cardiovasc Electrophysiol
; 26(10): 1146-50, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26200674
3.
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
Hum Mol Genet
; 21(12): 2759-67, 2012 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422768
4.
Evidence for genetic heterogeneity in Carvajal syndrome.
Cell Tissue Res
; 348(2): 261-4, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22350851
5.
The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands.
Europace
; 14(9): 1344-51, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22383456
6.
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.
Hum Mutat
; 32(9): 995-9, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21618644
7.
Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring.
Europace
; 13(1): 130-2, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20851825
8.
Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycardia secondary to de novo calmodulin p.Asn98Ser.
Eur Heart J Case Rep
; 5(10): ytab393, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34729453
9.
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
Front Genet
; 12: 773177, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34899860
10.
A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response.
J Pers Med
; 11(6)2021 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34202968
11.
Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.
Front Immunol
; 12: 639226, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33746979
12.
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.
Europace
; 12(6): 861-8, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20400443
13.
Variations in the TRPV1 gene are associated to exertional heat stroke.
J Sci Med Sport
; 23(11): 1021-1027, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32471784
14.
International Triadin Knockout Syndrome Registry.
Circ Genom Precis Med
; 12(2): e002419, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30649896
15.
Comparative analysis of the VIDAS Toxo IgG IV assay in the detection of antibodies to Toxoplasma gondii.
Diagn Microbiol Infect Dis
; 53(1): 79-81, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16054325
16.
Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?
J Athl Train
; 50(11): 1212-4, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26565425
17.
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.
J Neuromuscul Dis
; 2(4): 421-432, 2015 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858745
18.
Management of malignant hyperthermia in France: Current organisation.
Anaesth Crit Care Pain Med
; 38(5): 535, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30807880
19.
Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.
Heart Rhythm
; 11(11): 1999-2009, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25041964
20.
Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.
Hum Gene Ther
; 24(7): 702-13, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23805838