Literature DB >> 23549275

Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT).

Carlo Napolitano1, Raffaella Bloise2, Mirella Memmi2, Silvia Giuliana Priori3.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 23549275      PMCID： PMC3865399          DOI： 10.1038/ejhg.2013.55

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


× No keyword cloud information.
  9 in total

Review 1.  Inherited calcium channelopathies in the pathophysiology of arrhythmias.

Authors:  Luigi Venetucci; Marco Denegri; Carlo Napolitano; Silvia G Priori
Journal:  Nat Rev Cardiol       Date:  2012-06-26       Impact factor: 32.419

2.  Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia.

Authors:  S G Priori; C Napolitano; N Tiso; M Memmi; G Vignati; R Bloise; V Sorrentino; G A Danieli
Journal:  Circulation       Date:  2001-01-16       Impact factor: 29.690

Review 3.  Calsequestrin 2 and arrhythmias.

Authors:  Michela Faggioni; Björn C Knollmann
Journal:  Am J Physiol Heart Circ Physiol       Date:  2011-12-23       Impact factor: 4.733

Review 4.  Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.

Authors:  Silvia G Priori; S R Wayne Chen
Journal:  Circ Res       Date:  2011-04-01       Impact factor: 17.367

5.  Flecainide suppresses defibrillator-induced storming in catecholaminergic polymorphic ventricular tachycardia.

Authors:  Robert A Hong; Kahealani K Rivera; Arksarapuk Jittirat; Joon J Choi
Journal:  Pacing Clin Electrophysiol       Date:  2012-05-03       Impact factor: 1.976

6.  Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives.

Authors:  Christian van der Werf; Ineke Nederend; Nynke Hofman; Nan van Geloven; Corné Ebink; Ingrid M E Frohn-Mulder; A Marco W Alings; Hans A Bosker; Frank A Bracke; Freek van den Heuvel; Reinier A Waalewijn; Hennie Bikker; J Peter van Tintelen; Zahurul A Bhuiyan; Maarten P van den Berg; Arthur A M Wilde
Journal:  Circ Arrhythm Electrophysiol       Date:  2012-07-10

7.  Phenotype variability in patients carrying KCNJ2 mutations.

Authors:  Hiromi Kimura; Jun Zhou; Mihoko Kawamura; Hideki Itoh; Yuka Mizusawa; Wei-Guang Ding; Jie Wu; Seiko Ohno; Takeru Makiyama; Akashi Miyamoto; Nobu Naiki; Qi Wang; Yu Xie; Tsugutoshi Suzuki; Shigeru Tateno; Yoshihide Nakamura; Wei-Jin Zang; Makoto Ito; Hiroshi Matsuura; Minoru Horie
Journal:  Circ Cardiovasc Genet       Date:  2012-05-15

8.  Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans.

Authors:  Hiroshi Watanabe; Nagesh Chopra; Derek Laver; Hyun Seok Hwang; Sean S Davies; Daniel E Roach; Henry J Duff; Dan M Roden; Arthur A M Wilde; Björn C Knollmann
Journal:  Nat Med       Date:  2009-03-29       Impact factor: 53.440

9.  Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

Authors:  Silvia G Priori; Carlo Napolitano; Mirella Memmi; Barbara Colombi; Fabrizio Drago; Maurizio Gasparini; Luciano DeSimone; Fernando Coltorti; Raffaella Bloise; Roberto Keegan; Fernando E S Cruz Filho; Gabriele Vignati; Abraham Benatar; Angelica DeLogu
Journal:  Circulation       Date:  2002-07-02       Impact factor: 29.690
  9 in total
  5 in total

1.  Gene therapy for inherited arrhythmias.

Authors:  Vassilios J Bezzerides; Maksymilian Prondzynski; Lucie Carrier; William T Pu
Journal:  Cardiovasc Res       Date:  2020-07-15       Impact factor: 10.787

Review 2.  Ion Channel Disorders and Sudden Cardiac Death.

Authors:  Anna Garcia-Elias; Begoña Benito
Journal:  Int J Mol Sci       Date:  2018-02-28       Impact factor: 5.923

3.  Post-Translational Modifications and Diastolic Calcium Leak Associated to the Novel RyR2-D3638A Mutation Lead to CPVT in Patient-Specific hiPSC-Derived Cardiomyocytes.

Authors:  Ivana Acimovic; Marwan M Refaat; Adrien Moreau; Anton Salykin; Steve Reiken; Yvonne Sleiman; Monia Souidi; Jan Přibyl; Andrey V Kajava; Sylvain Richard; Jonathan T Lu; Philippe Chevalier; Petr Skládal; Petr Dvořak; Vladimir Rotrekl; Andrew R Marks; Melvin M Scheinman; Alain Lacampagne; Albano C Meli
Journal:  J Clin Med       Date:  2018-11-08       Impact factor: 4.241

4.  Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive catecholaminergic polymorphic ventricular tachycardia.

Authors:  Francesco Lodola; Diego Morone; Marco Denegri; Rossana Bongianino; Hiroko Nakahama; Lucia Rutigliano; Rosanna Gosetti; Giulia Rizzo; Alessandra Vollero; Michelangelo Buonocore; Carlo Napolitano; Gianluigi Condorelli; Silvia G Priori; Elisa Di Pasquale
Journal:  Cell Death Dis       Date:  2016-10-06       Impact factor: 8.469

5.  Using high-resolution variant frequencies to empower clinical genome interpretation.

Authors:  Nicola Whiffin; Eric Minikel; Roddy Walsh; Anne H O'Donnell-Luria; Konrad Karczewski; Alexander Y Ing; Paul J R Barton; Birgit Funke; Stuart A Cook; Daniel MacArthur; James S Ware
Journal:  Genet Med       Date:  2017-05-18       Impact factor: 8.822
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.