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Biomedicines|October 23, 2021
The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3Andreas Brodehl, Carsten Hain, Franziska Flottmann, et al.
Genes|July 2, 2021
The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated CardiomyopathyAnna Gaertner, Julia Bloebaum, Andreas Brodehl, et al.
Circulation. Genomic and Precision Medicine|November 14, 2025
Atlas of Cardiomyopathy Associated DES (Desmin) Mutations: Functional Insights Into the Critical 1B DomainSabrina Voß, Hendrik Milting, Franziska Klag, et al.
Circulation Research|January 19, 2023
Mechanistic Insights of the LEMD2 p.L13R Mutation and Its Role in CardiomyopathyRuping Chen, Simone Buchmann, Amos Kroth, et al.
International Journal of Cardiology|December 29, 2020
Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac deathBjörn Fischer, Sven Dittmann, Andreas Brodehl, et al.
JACC. Basic to Translational Science|May 8, 2019
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2Nelly Abdelfatah, Ruping Chen, Henry J Duff, et al.
Frontiers in Physiology|August 6, 2019
Mitofusin 2 Is Essential for IP3-Mediated SR/Mitochondria Metabolic Feedback in Ventricular MyocytesLea K Seidlmayer, Christine Mages, Annette Berbner, et al.
American Journal of Human Genetics|December 23, 2006
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathyArnd Heuser, Eva R Plovie, Patrick T Ellinor, et al.
Acta Physiologica (Oxford, England)|May 31, 2026
Autoantibodies in Patients With Arrhythmogenic Cardiomyopathy Activate GSK-3β, Resulting in a Loss of Cardiomyocyte CohesionSoumyata Pathak, Konstanze Stangner, Ellen Kempf, et al.
The Journal of Biological Chemistry|March 10, 2012
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutantsAndreas Brodehl, Per Niklas Hedde, Mareike Dieding, et al.
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