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Circulation. Cardiovascular Genetics|November 9, 2013
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac deathAndreas Brodehl, Mareike Dieding, Bärbel Klauke, et al.
Circulation. Arrhythmia and Electrophysiology|January 20, 2016
Outcome of Apparently Unexplained Cardiac Arrest: Results From Investigation and Follow-Up of the Prospective Cardiac Arrest Survivors With Preserved Ejection Fraction RegistryAdam R M Herman, Christopher Cheung, Brenda Gerull, et al.
Mucosal Immunology|August 15, 2025
Junctional epithelial Plakoglobin facilitates intestinal inflammation by p38MAPK-dependent activation of the inflammasomeMatthias Kelm, Natalie Burkard, Marius Hörner, et al.
Iscience|March 4, 2025
EPAS1 induction drives myocardial degeneration in desmoplakin-cardiomyopathyEirini Kyriakopoulou, Sebastiaan J van Kampen, Martijn Wehrens, et al.
Human Mutation|March 26, 2019
Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defectAndrey V Marakhonov, Andreas Brodehl, Roman P Myasnikov, et al.
Nature Medicine|April 3, 2012
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicingWei Guo, Sebastian Schafer, Marion L Greaser, et al.
Revista Espanola De Cardiologia (English Ed.)|August 11, 2022
ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardiumFrancisco José Bermúdez-Jiménez, Víctor Carriel, Juan José Santos-Mateo, et al.
Journal of the American College of Cardiology|November 11, 2025
Danicamtiv, a Selective Agonist of Cardiac Myosin, for Dilated Cardiomyopathy: A Phase 2 Open-Label TrialNeal K Lakdawala, Ray E Hershberger, Pablo Garcia-Pavia, et al.
JACC. Clinical Electrophysiology|May 10, 2024
Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic CardiomyopathyFrancisco J Bermudez-Jimenez, Alexandros Protonotarios, Soledad García-Hernández, et al.
Circulation. Arrhythmia and Electrophysiology|August 11, 2017
Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?Jason D Roberts, Andrew D Krahn, Michael J Ackerman, et al.
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