C. Stanasiuk

发表

Distinct Myocardial Transcriptomic Profiles of Cardiomyopathies Stratified by the Mutant Genes

J. Gummert, S. Albaum, R. Knöll, 2020, Genes.

Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset

K. Klingel, E. Mershina, S. Boytsov, 2021, International journal of molecular sciences.

The novel desmin variant p.Leu115Ile is associated with a unique form of biventricular Arrhythmogenic Cardiomyopathy.

M. Ashworth, P. Elliott, P. Syrris, 2020, The Canadian journal of cardiology.

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction

V. Melenovský, M. Macek, J. Zeman, 2020, Journal of clinical medicine.

Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies

Catherine L. Worth, S. Teichmann, J. Seidman, 2022, Science.

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 defect

M. Skoblov, E. Mershina, S. Boytsov, 2019, Human mutation.

Incorporation of desmocollin‐2 into the plasma membrane requires N‐glycosylation at multiple sites

D. Anselmetti, H. Milting, Jan Gummert, 2019, FEBS open bio.

The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy

E. Mershina, S. Boytsov, O. Drapkina, 2021, Genes.

The emergency medical service has a crucial role to unravel the genetics of sudden cardiac arrest in young, out of hospital resuscitated patients.

J. Gummert, K. Klingel, A. Kostareva, 2021, Resuscitation.

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect

H. Milting, B. Gerull, D. Hendig, 2019, Genes.

Cardiomyopathy‐associated mutations in the RS domain affect nuclear localization of RBM20

M. Morshuis, H. Milting, P. Sommer, 2020, Human mutation.

A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.

M. Deutsch, H. Milting, B. Klauke, 2020, Journal of molecular and cellular cardiology.

Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samples

K. Klingel, H. Milting, D. Henzler, 2023, International Journal of Legal Medicine.

Functional analysis of DES-p.L398P and RBM20-p.R636C

H. Milting, B. Klauke, A. Brodehl, 2018, Genetics in Medicine.