Publications by authors named "Anna Gaertner-Rommel"

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Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy.
Anna Gaertner-Rommel, Jens Tiesmeier, Thomas Jakob, Bernd Strickmann, Gunter Veit

Mol Genet Genomic Med· August 2019

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Functional analysis of DES-p.L398P and RBM20-p.R636C.
Andreas Brodehl, Hans Ebbinghaus, Anna Gaertner-Rommel, Caroline Stanasiuk, Bärbel Klauke

Genet Med· May 2019

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In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns.
Jana Davina Debus, Hendrik Milting, Andreas Brodehl, Astrid Kassner, Dario Anselmetti, Anna Gaertner-Rommel

J Mol Cell Cardiol· April 2019

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Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Andreas Brodehl, Anna Gaertner-Rommel, Hendrik Milting

Biophys Rev· August 2018

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A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy.
Ilona Schirmer, Mareike Dieding, Bärbel Klauke, Andreas Brodehl, Anna Gaertner-Rommel

Mol Genet Genomic Med· March 2018

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High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
Baerbel Klauke, Anna Gaertner-Rommel, Uwe Schulz, Astrid Kassner, Edzard Zu Knyphausen

PLoS One· January 2018

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(Filamin-C): A New(er) Player in the Field of Genetic Cardiomyopathies.
Andreas Brodehl, Anna Gaertner-Rommel, Hendrik Milting

Circ Cardiovasc Genet· December 2017

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Molecular autopsy of sudden unexplained deaths reveals genetic predispositions for cardiac diseases among young forensic cases.
Nicole Hellenthal, Anna Gaertner-Rommel, Bärbel Klauke, Lech Paluszkiewicz, Markus Stuhr

Europace· November 2017

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Arrhythmogenic cardiomyopathy related DSG2 mutations affect desmosomal cadherin binding kinetics.
Mareike Dieding, Jana Davina Debus, Raimund Kerkhoff, Anna Gaertner-Rommel, Volker Walhorn

Sci Rep· October 2017

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The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.
Andreas Brodehl, Anna Gaertner-Rommel, Bärbel Klauke, Simon Andre Grewe, Ilona Schirmer

Hum Mutat· August 2017

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Myocardial expression profiles of candidate molecules in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia compared to those with dilated cardiomyopathy and healthy controls.
Deniz Akdis, Argelia Medeiros-Domingo, Anna Gaertner-Rommel, Jeannette I Kast, Frank Enseleit

Heart Rhythm· March 2016

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