Molecular insights into cardiomyopathies associated with desmin (DES) mutations

ανά Brodehl, Andreas, Gaertner-Rommel, Anna, Milting, Hendrik
Τόπος έκδοσης Biophys Rev (2018)

Arrhythmogenic cardiomyopathy related DSG2 mutations affect desmosomal cadherin binding kinetics

ανά Dieding, Mareike, Debus, Jana Davina, Kerkhoff, Raimund, Gaertner-Rommel, Anna, Walhorn, Volker, Milting, Hendrik, Anselmetti, Dario
Τόπος έκδοσης Sci Rep (2017)

A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy

ανά Schirmer, Ilona, Dieding, Mareike, Klauke, Bärbel, Brodehl, Andreas, Gaertner‐Rommel, Anna, Walhorn, Volker, Gummert, Jan, Schulz, Uwe, Paluszkiewicz, Lech, Anselmetti, Dario, Milting, Hendrik
Τόπος έκδοσης Mol Genet Genomic Med (2017)

Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy

ανά Gaertner‐Rommel, Anna, Tiesmeier, Jens, Jakob, Thomas, Strickmann, Bernd, Veit, Gunter, Bachmann‐Mennenga, Bernd, Paluszkiewicz, Lech, Klingel, Karin, Schulz, Uwe, Laser, Kai T., Karger, Bernd, Pfeiffer, Heidi, Milting, Hendrik
Τόπος έκδοσης Mol Genet Genomic Med (2019)

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation

ανά Klauke, Baerbel, Gaertner-Rommel, Anna, Schulz, Uwe, Kassner, Astrid, zu Knyphausen, Edzard, Laser, Thorsten, Kececioglu, Deniz, Paluszkiewicz, Lech, Blanz, Ute, Sandica, Eugen, van den Bogaerdt, Antoon J., van Tintelen, J. Peter, Gummert, Jan, Milting, Hendrik
Τόπος έκδοσης PLoS One (2017)