Magdaléna Harakaľová

The Translational Landscape of the Human Heart

Sebastiaan van Heesch, Franziska Witte, Valentin Schneider-Lunitz et al. · Cell · 2019 · 631 citations · Full text

Heart Failure, Structural Heart Disease, Translational Landscape +5

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Saskia B. Wortmann, Frédéric M. Vaz, Thatjana Gardeitchik et al. · Nature Genetics · 2012 · 205 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Mitochondrial Function +7

Dominant missense mutations in ABCC9 cause Cantú syndrome

Magdaléna Harakaľová, J. J. T. van Harssel, Stef van Lieshout et al. · Nature Genetics · 2012 · 199 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

Peter M. van Hasselt, Sacha Ferdinandusse, Glen R. Monroe et al. · New England Journal of Medicine · 2014 · 118 citations · Full text

Genetics, Pathology, Molecular Genetics +18

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Saskia N. van der Crabben, Marije P. Hennus, Grant A. McGregor et al. · Journal of Clinical Investigation · 2016 · 109 citations · Full text

Acute Lung Injury, Chromatin, Genome Instability +13