Barbel Klauke

Bad Oeynhausen, NW 32545, Germany

Last Updated: 09/26/2026

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Found 21 publications

Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern.

Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern.

Journal: International journal of molecular sciences
Published: May 13, 2022

The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3.

The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3.

Journal: Biomedicines
Published: September 13, 2021

The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy.

The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy.

Journal: Genes
Published: May 07, 2021

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

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

Journal: International journal of molecular sciences
Published: March 05, 2021

RBM20 mutations in left ventricular non-compaction cardiomyopathy.

RBM20 mutations in left ventricular non-compaction cardiomyopathy.

Journal: Pediatric investigation
Published: August 28, 2020

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

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

Journal: Human mutation
Published: December 17, 2019

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

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

Journal: Journal of molecular and cellular cardiology
Published: October 24, 2019

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 24, 2018

A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy.

A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy.

Journal: Molecular genetics & genomic medicine
Published: August 21, 2017

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.

Journal: PloS one
Published: June 06, 2017

The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.

The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.

Journal: Human mutation
Published: February 24, 2017

Molecular autopsy of sudden unexplained deaths reveals genetic predispositions for cardiac diseases among young forensic cases.

Molecular autopsy of sudden unexplained deaths reveals genetic predispositions for cardiac diseases among young forensic cases.

Journal: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Published: December 18, 2015
Showing 1-12 of 21

Last Updated: 09/26/2026