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Human Molecular Genetics|September 11, 2010
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathyBaerbel Klauke, Sabine Kossmann, Anna Gaertner, et al.Journal of Cell Science|January 22, 2025
Meeting report - Alpine desmosome disease meeting 2024: advances and emerging topics in desmosomes and related diseasesJens Waschke, Masayuki Amagai, Christoph Becker, et al.Circulation|December 8, 2017
Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/DysplasiaFrancisco José Bermúdez-Jiménez, Víctor Carriel, Andreas Brodehl, et al.Circulation. Genomic and Precision Medicine|July 1, 2026
Cardiomyopathy-Associated Mutations in a Hotspot Region at the C-Terminal Part of Desmin Coil-2 Domain Impair the Intermediate Filament AssemblyJonas Reckmann, Hendrik Milting, Sabrina Voß, et al.Genes|January 22, 2021
The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction CardiomyopathyOlga Kulikova, Andreas Brodehl, Anna Kiseleva, et al.Stem Cell Research & Therapy|November 4, 2025
Apremilast improves cardiomyocyte cohesion and arrhythmia in different models for arrhythmogenic cardiomyopathyKonstanze Stangner, Orsela Dervishi, Janina Kuhnert, et al.Molecular Metabolism|December 24, 2023
Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytesAnna Janz, Katharina Walz, Alexandra Cirnu, et al.The Canadian Journal of Cardiology|December 8, 2020
The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic CardiomyopathyAlexandros Protonotarios, Andreas Brodehl, Angeliki Asimaki, et al.Human Mutation|August 26, 2020
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20Anna Gaertner, Baerbel Klauke, Elina Felski, et al.Journal of the American College of Cardiology|July 4, 2006
A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26Patrick T Ellinor, Sabine Sasse-Klaassen, Susanne Probst, et al.Pageof 12