Marzia De Bortoli

Eurac Research — Italy

Medicine · Health Sciences

21h-index1.5kcitations56works0.42yr avg
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Research Topics

Cardiovascular Effects of Exercise(31), Cardiomyopathy and Myosin Studies(27), Cardiac electrophysiology and arrhythmias(13), Sports injuries and prevention(10), Electric Motor Design and Analysis(7)

Publications56 total

Using Two-Sample Mendelian Randomization to Identify Potential Drug Targets: The Case of Desmoplakin
Epidemiology Biostatistics and Public Health·2025Open Access
Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression
Human Genetics·2025Open Access
Cell spheroid micromechanics under large deformations
Scientific Reports·2025· 1 citedOpen Access
Genomic and molecular evidence that the lncRNA <i>DSP-AS1</i> modulates Desmoplakin expression
2025Open Access
An antisense lncRNA mediated mechanism controls desmoplakin gene expression
Cardiovascular Research·2024· 1 citedOpen Access
A novel human iPSC-based co-culture model to study neurocardiac interaction &lt;i&gt;in vitro&lt;/i&gt;
Biomedical Science and Engineering·2023Open Access
Myocardial Fibrosis in Hypertrophic Cardiomyopathy: A Perspective from Fibroblasts
International Journal of Molecular Sciences·2023· 46 citedOpen Access
Generation of human induced pluripotent stem cell line EURACi015-A from a patient affected by dilated cardiomyopathy carrying the Lamin A/C p.Glu161Lys mutation
Stem Cell Research·2023· 1 citedOpen Access
Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes
Computational and Structural Biotechnology Journal·2023· 7 citedOpen Access
GCN5 contributes to intracellular lipid accumulation in human primary cardiac stromal cells from patients affected by Arrhythmogenic cardiomyopathy
Journal of Cellular and Molecular Medicine·2022· 9 citedOpen Access
Set-up of a novel in vitro neurocardiac cell model for the in-depth study of heart disease
Cardiovascular Research·2022Open Access
Evidence of mitochondrial alterations in primary cardiac stromal cells from arrhythmogenic cardiomyopathy hearts
Cardiovascular Research·2022Open Access
Are human induced pluripotent stem cell derived cardiomyocytes a good cellular model for studying incomplete penetrance in arrhythmogenic cardiomyopathy?
Cardiovascular Research·2022
Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study
Biomolecules·2021· 14 citedOpen Access
Circulating miR-185-5p as a Potential Biomarker for Arrhythmogenic Right Ventricular Cardiomyopathy
Cells·2021· 13 citedOpen Access
Generation and characterization of three human induced pluripotent stem cell lines (EURACi007-A, EURACi008-A, EURACi009-A) from three different individuals of the same family with arrhythmogenic cardiomyopathy (ACM) carrying the plakophillin2 p.N346Lfs*12 mutation
Stem Cell Research·2021· 3 citedOpen Access
Novel Missense Variant in <i>MYL2</i> Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology
Circulation Genomic and Precision Medicine·2020· 17 citedOpen Access
KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern
JCI Insight·2019· 22 citedOpen Access
<i>KCND3</i> is a novel susceptibility locus for early repolarization
2019· 1 citedOpen Access
A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy
Heart Rhythm·2018· 21 cited
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Frequent Co-authors

Alessandra Rampazzo(22), Alessandra Lorenzon(19), Gaetano Thiene(17), Cristina Basso(17), Barbara Bauce(16), Martina Calore(16), Alessandra Rossini(16), Peter P. Pramstaller(15), Domenico Corrado(13), Ilaria Rigato(12), Elisa Mazzotti(10), Luciano Daliento(10), Giulia Poloni(9), Chiara Volani(9), Andrea Nava(8), Giorgia Beffagna(7), Cristian Pattaro(7), Christian Fuchsberger(7), Luisa Foco(7), Martina Perazzolo Marra(6)