A5004538594- Muscle Physiology and Disorders
- Skin and Cellular Biology Research
- Acute Myocardial Infarction Research
- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- Cardiac electrophysiology and arrhythmias
- Cardiac Imaging and Diagnostics
- Cellular Mechanics and Interactions
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Metabolism and Genetic Disorders
- Nuclear Structure and Function
- Cardiovascular Function and Risk Factors
- Glioma Diagnosis and Treatment
- Atrial Fibrillation Management and Outcomes
- Cardiovascular Syncope and Autonomic Disorders
- Cardiac pacing and defibrillation studies
- Glycogen Storage Diseases and Myoclonus
- Cardiac Arrhythmias and Treatments
- Inflammatory Myopathies and Dermatomyositis
- Venous Thromboembolism Diagnosis and Management
- Coronary Interventions and Diagnostics
- Heart Failure Treatment and Management
- ECG Monitoring and Analysis
- Parkinson's Disease Mechanisms and Treatments
Friedrich-Alexander-Universität Erlangen-Nürnberg
2015-2025
Universitätsklinikum Erlangen
2014-2025
University Medical Center Freiburg
2023
Pfizer (Germany)
2012-2020
University of Cologne
1998-2019
Antwerp University Hospital
2019
Gelre Hospitals
2016-2019
VIB-UAntwerp Center for Molecular Neurology
2019
University of Antwerp
2019
Griffith University
2019
Management of low-grade gliomas continues to be a challenging task, because CT and MRI do not always differentiate from nontumoral lesions. Furthermore, tumor extent aggressiveness often remain unclear lack contrast enhancement. Previous studies indicated that large neutral amino acid tracers accumulate in most brain tumors, including gliomas, probably changes endothelial blood-brain barrier function. We describe <sup>11</sup>C-methionine uptake measured with PET series 196 consecutive...
The time of acute myocardial infarction was determined in all 1,741 patients the ISAM (Intravenous Streptokinase Acute Myocardial Infarction) Study, based on onset clinical symptoms and evaluation plasma CK-MB enzyme time-activity curves. incidence markedly increased between 6:00 AM 12:00 noon compared with other times day (p less than 0.001). occurred 3.8 more frequently 8:00 9:00 (hour maximum incidence) midnight 1:00 minimum incidence). Time enzymatic methods correlated well (r = 0.95)....
Short-term i.v. infusion of streptokinase was performed in 93 patients within 6 hours after the onset acute myocardial infarction. Twenty-six underwent angiography phase (group A) and 52 fourth week only B); 15 had no angiography. Seven died during hospital stay six suffered nonfatal reinfarctions. There were bleeding complications. In 11 21 group A patients, occluded coronary arteries opened 1 hour started. 84% groups B, infarct-related artery patent week. 75% arteries, residual luminal...
We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. processes were performed according standardized settings. identified underlying pathogenic or likely variants in 307 families (30.7%). In further 253 (25.3%) variant unknown significance, possibly explaining clinical symptoms index patient identified. enabled timely diagnosing...
Here, we report on the analysis of keratin 18 null mice. Unlike ablation K8, which together with K18 is expressed in embryonic and simple adult epithelia, mice are viable, fertile, show a normal lifespan. In young mice, hepatocytes were completely devoid filaments. Nevertheless, typical desmosomes formed maintained. Old however, developed distinctive liver pathology abnormal containing K8-positive aggregates. These stained positively for ubiquitin MM120-1 identified as Mallory bodies, one...
gamma-Filamin, also called ABP-L, is a filamin isoform that specifically expressed in striated muscles, where it predominantly localized myofibrillar Z-discs. A minor fraction of the protein shows subsarcolemmal localization. Although gamma-filamin has same overall structure as two other known isoforms, only carries unique insertion its immunoglobulin (Ig)-like domain 20. Sequencing genomic region encoding this part molecule insert encoded by an extra exon. Transient transfections...
Mutations in the valosin-containing protein (VCP) gene on chromosome 9p13-p12 recently have been shown to cause autosomal dominant inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia. Here, we report central nervous system autopsy findings a 55-year-old German patient dementia who harbors heterozygous R155C missense mutation residing N-terminal CDC48 domain VCP, which is involved ubiquitin binding. We demonstrate that mutant VCP causes novel type...
Mutations in the valosin-containing protein (VCP, p97) gene on chromosome 9p13-p12 cause a late-onset form of autosomal dominant inclusion body myopathy associated with Paget disease bone and frontotemporal dementia (IBMPFD). We report pathological consequences three heterozygous VCP (R93C, R155H, R155C) mutations human striated muscle. IBMPFD skeletal muscle pathology is characterized by degenerative changes filamentous VCP- ubiquitin-positive cytoplasmic nuclear aggregates. Furthermore,...
Dysfunction of plectin, a 500-kD cytolinker protein, leads to skin blistering and muscular dystrophy. Using conditional gene targeting in mice, we show that plectin deficiency results progressive degenerative alterations striated muscle, including aggregation partial loss intermediate filament (IF) networks, detachment the contractile apparatus from sarcolemma, profound changes myofiber costameric cytoarchitecture, decreased mitochondrial number function. Analysis newly generated...
Protein homeostasis is crucial for maintaining cardiomyocyte (CM) function. Disruption of proteostasis results in accumulation protein aggregates causing cardiac pathologies such as hypertrophy, dilated cardiomyopathy (DCM), and heart failure. Here, we identify ubiquitin-specific peptidase 5 (USP5) a critical determinant quality control (PQC) CM. CM-specific loss mUsp5 leads to the polyubiquitin chains aggregates, remodeling, eventually DCM. USP5 interacts with key components machinery,...
BACKGROUND Previous studies report a morning peak in the occurrence of out-of-hospital sudden cardiac death but lack detailed information on underlying arrhythmias. We used documentation system semiautomated defibrillators by emergency medical technicians to investigate circadian pattern defined arrhythmias and influence demographic patient characteristics this pattern. METHODS AND RESULTS From December 1988 1990, 703 consecutive patients (63% men; age, 67 +/- 17 years) with were registered...