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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.Circulation. Genomic and Precision Medicine|April 1, 2026
Newfoundland Mutation TMEM43-p.S358L Causes Impaired Cardiac Energy Metabolism and Mitochondrial Function Through Altered Protein InteractionSandra Ratnavadivel, Kai Jürgens, Nora Klinke, 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.Journal of Molecular and Cellular Cardiology|March 24, 2020
A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomyAndreas Brodehl, Jürgen Weiss, Jana Davina Debus, et al.European Journal of Heart Failure|July 3, 2026
A high proportion of children with severe cardiomyopathies show both myocarditis and genetic predispositionsHendrik Milting, Anna Gärtner, Caroline Wiebe, et al.Human Molecular Genetics|February 3, 2025
Sudden cardiac death, arrhythmogenic cardiomyopathy and intercalated disc pathology due to reduced filamin C protein levels: a matter of life and deathChristian Holtzhausen, Lorena Heil, Karin Klingel, et al.International Journal of Molecular Sciences|September 10, 2021
De Novo Missense Mutations in TNNC1 and TNNI3 Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting AgentsRoua Hassoun, Heidi Budde, Hans Georg Mannherz, et al.International Journal of Molecular Sciences|April 30, 2021
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early OnsetAndreas Brodehl, Alexey Meshkov, Roman Myasnikov, et al.International Journal of Legal Medicine|February 11, 2023
Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samplesCaroline Stanasiuk, Hendrik Milting, Sören Homm, et al.Science Translational Medicine|November 3, 2021
Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutationsAndrey Fomin, Anna Gärtner, Lukas Cyganek, et al.Pageof 3