Detalhe da pesquisa
1.
The role of the M-band myomesin proteins in muscle integrity and cardiac disease.
J Biomed Sci
; 29(1): 18, 2022 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35255917
2.
Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin.
FASEB J
; 33(7): 8504-8518, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31017801
3.
Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies.
Int J Mol Sci
; 21(14)2020 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32709127
4.
Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy.
J Physiol
; 595(24): 7369-7382, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29071728
5.
The genetics underlying acquired long QT syndrome: impact for genetic screening.
Eur Heart J
; 37(18): 1456-64, 2016 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26715165
6.
Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues.
J Biol Chem
; 289(41): 28138-48, 2014 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138275
7.
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.
Muscle Nerve
; 52(5): 728-35, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25808192
8.
A Common Mutation of Long QT Syndrome Type 1 in Japan.
Circ J
; 79(9): 2026-30, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26118460
9.
A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice.
Traffic
; 13(6): 869-79, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22369075
10.
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
11.
Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.
Basic Res Cardiol
; 109(6): 446, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25341504
12.
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Nat Genet
; 37(11): 1207-9, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16227997
13.
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.
Hum Mol Genet
; 20(4): 694-704, 2011 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21131290
14.
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation.
J Cardiovasc Electrophysiol
; 24(5): 562-9, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23350853
15.
Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances.
Hum Mutat
; 33(1): 109-17, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21887725
16.
High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation.
Biochemistry
; 51(45): 9076-85, 2012 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23092362
17.
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
Hum Mol Genet
; 19(24): 4820-36, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20858595
18.
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
19.
Trafficking and Gating Cooperation Between Deficient Nav1.5-mutant Channels to Rescue INa.
Front Biosci (Landmark Ed)
; 27(7): 209, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35866404
20.
Novel CALM3 Variant Causing Calmodulinopathy With Variable Expressivity in a 4-Generation Family.
Circ Arrhythm Electrophysiol
; 15(3): e010572, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35225649