Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene?

by Anna Gaertner, Andreas Brodehl, Hendrik Milting
Published 2018-11-01

RBM20 mutations in left ventricular non‐compaction cardiomyopathy

by Anna Gaertner, Bärbel Klauke, Andreas Brodehl, Hendrik Milting
Published 2020-03-01

In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations.

by Anna Gaertner, Baerbel Klauke, Ines Stork, Karsten Niehaus, Gesa Niemann, Jan Gummert, Hendrik Milting
Published 2012-01-01

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (<i>DES</i>) Mutation p.Y122H Leading to a Severe Filament Assembly Defect

by Andreas Brodehl, Seyed Ahmad Pour Hakimi, Caroline Stanasiuk, Sandra Ratnavadivel, Doris Hendig, Anna Gaertner, Brenda Gerull, Jan Gummert, Lech Paluszkiewicz, Hendrik Milting
Published 2019-11-01

The Combined Human Genotype of Truncating <i>TTN</i> and <i>RBM20</i> Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy

by Anna Gaertner, Julia Bloebaum, Andreas Brodehl, Baerbel Klauke, Katharina Sielemann, Astrid Kassner, Henrik Fox, Michiel Morshuis, Jens Tiesmeier, Uwe Schulz, Ralph Knoell, Jan Gummert, Hendrik Milting
Published 2021-06-01

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

by Anna Gaertner‐Rommel, Jens Tiesmeier, Thomas Jakob, Bernd Strickmann, Gunter Veit, Bernd Bachmann‐Mennenga, Lech Paluszkiewicz, Karin Klingel, Uwe Schulz, Kai T. Laser, Bernd Karger, Heidi Pfeiffer, Hendrik Milting
Published 2019-08-01

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

by Baerbel Klauke, Anna Gaertner-Rommel, Uwe Schulz, Astrid Kassner, Edzard Zu Knyphausen, Thorsten Laser, Deniz Kececioglu, Lech Paluszkiewicz, Ute Blanz, Eugen Sandica, Antoon J van den Bogaerdt, J Peter van Tintelen, Jan Gummert, Hendrik Milting
Published 2017-01-01