Literature DB >> 25700660

Phospholamban p.arg14del mutation in a Spanish family with arrhythmogenic cardiomyopathy: evidence for a European founder mutation.

José María López-Ayala1, Ludolf Boven2, Arthur van den Wijngaard2, Pablo Peñafiel-Verdú3, Johan Peter van Tintelen4, Juan Ramón Gimeno5.   

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Year:  2015        PMID： 25700660     DOI： 10.1016/j.rec.2014.11.012

Source DB:  PubMed          Journal:  Rev Esp Cardiol (Engl Ed)        ISSN： 1885-5857


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  4 in total

1.  Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.

Authors:  Maryam Fish; Gasnat Shaboodien; Sarah Kraus; Karen Sliwa; Christine E Seidman; Michael A Burke; Lia Crotti; Peter J Schwartz; Bongani M Mayosi
Journal:  Sci Rep       Date:  2016-02-26       Impact factor: 4.379

2.  Istaroxime treatment ameliorates calcium dysregulation in a zebrafish model of phospholamban R14del cardiomyopathy.

Authors:  S M Kamel; C J M van Opbergen; C D Koopman; A O Verkerk; B J D Boukens; B de Jonge; Y L Onderwater; E van Alebeek; S Chocron; C Polidoro Pontalti; W J Weuring; M A Vos; T P de Boer; T A B van Veen; J Bakkers
Journal:  Nat Commun       Date:  2021-12-09       Impact factor: 14.919

Review 3.  Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review.

Authors:  Riccardo Bariani; Ilaria Rigato; Marco Cason; Maria Bueno Marinas; Rudy Celeghin; Kalliopi Pilichou; Barbara Bauce
Journal:  J Clin Med       Date:  2022-07-25       Impact factor: 4.964

4.  Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction.

Authors:  Tom E Verstraelen; Freyja H M van Lint; Laurens P Bosman; Remco de Brouwer; Virginnio M Proost; Bob G S Abeln; Karim Taha; Aeilko H Zwinderman; Cathelijne Dickhoff; Toon Oomen; Bas A Schoonderwoerd; Gerardus P Kimman; Arjan C Houweling; Juan R Gimeno-Blanes; Folkert W Asselbergs; Paul A van der Zwaag; Rudolf A de Boer; Maarten P van den Berg; J Peter van Tintelen; Arthur A M Wilde
Journal:  Eur Heart J       Date:  2021-07-31       Impact factor: 29.983
  4 in total

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