Visualitzant Articles publicats (D-CM) per autor "Alcalde Masegu, Mireia"
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Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy

Stop-Gain Mutations in PKP2 Are Associated with a Later Age of Onset of Arrhythmogenic Right Ventricular Cardiomyopathy

The Role of clinical, genetic and segregation evaluation in sudden infant death

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies

Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later

Clinical impact of rare variants associated with inherited channelopathies: a 5-year update

Inflammation in the Pathogenesis of Arrhythmogenic Cardiomyopathy: Secondary Event or Active Driver?

Premature Termination Codon in 5' Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation

Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes

Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples

Alterations in calcium handling are a common feature in an arrhythmogenic cardiomyopathy cell model triggered by desmosome genes loss

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort

Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

Role of microRNAs in arrhythmogenic cardiomyopathy: translation as biomarkers into clinical practice