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List of works by Anna Gaertner

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

scientific article published on 23 December 2017

Arrhythmogenic cardiomyopathy related DSG2 mutations affect desmosomal cadherin binding kinetics.

scientific article published on 23 October 2017

Cardiomyopathy associated mutations in the RS domain affect nuclear localization of RBM20

scientific article published on 25 August 2020

FLNC (Filamin-C): A New(er) Player in the Field of Genetic Cardiomyopathies.

scientific article published in December 2017

Functional analysis of DES-p.L398P and RBM20-p.R636C

scientific article published on 28 September 2018

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

scientific article published on 18 December 2017

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

scientific article

Loss of plakoglobin immunoreactivity in intercalated discs in arrhythmogenic right ventricular cardiomyopathy: protein mislocalization versus epitope masking

scientific article published on 16 December 2015

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

scientific article published on 10 July 2019

Molecular insights into cardiomyopathies associated with desmin (DES) mutations

scientific article published on 20 June 2018

Myocardial expression profiles of candidate molecules in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia compared to those with dilated cardiomyopathy and healthy controls

scientific article published on 10 November 2015

Myocardial transcriptome analysis of human arrhythmogenic right ventricular cardiomyopathy

scientific article published on 15 November 2011

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

article

The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy

scientific article

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