A5070073921- Amyloidosis: Diagnosis, Treatment, Outcomes
- Hereditary Neurological Disorders
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Cardiovascular Function and Risk Factors
- Dermatological and Skeletal Disorders
- Microtubule and mitosis dynamics
- Cardiomyopathy and Myosin Studies
- Protein Kinase Regulation and GTPase Signaling
- Dupuytren's Contracture and Treatments
- Pharmacological Effects of Natural Compounds
- Orthopedic Surgery and Rehabilitation
- Cellular transport and secretion
- Sarcoidosis and Beryllium Toxicity Research
- Botulinum Toxin and Related Neurological Disorders
- Neuroscience and Neuropharmacology Research
- Lipid metabolism and biosynthesis
- Neurogenesis and neuroplasticity mechanisms
- RNA Interference and Gene Delivery
- Parathyroid Disorders and Treatments
- Peripheral Neuropathies and Disorders
- Ion channel regulation and function
- RNA regulation and disease
- Long-Term Effects of COVID-19
- Ubiquitin and proteasome pathways
Charité - Universitätsmedizin Berlin
2023-2025
Humboldt-Universität zu Berlin
2023-2025
Freie Universität Berlin
2023-2025
Berlin Institute of Health at Charité - Universitätsmedizin Berlin
2024
National Hospital for Neurology and Neurosurgery
2023
University College London
2023
Columbia University
2019
Ludwig-Maximilians-Universität München
2019
Introduction This prospective observational study of patients with transthyretin amyloid cardiomyopathy (ATTR-CM) undergoing treatment tafamidis aims at identifying quantitative image markers and comparing imaging modalities regarding the follow-up prognostication these patients, goal providing a multiparametric score to predict response. Methods analysis Patients board-approved decision receive will undergo, in addition standard care, baseline cardiovascular magnetic resonance (CMR) scans 9...
Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, full genotype-phenotype spectrum and progression remain to be defined. Notably, a multicenter phase 2/3 study test efficacy govorestat (NCT05397665), new aldose reductase inhibitor, is currently ongoing. Diagnosing CMT-SORD will become imperative when disease-modifying therapies available. In this cross-sectional multicentre...
Staufen2 (Stau2) is an RNA-binding protein that involved in dendritic spine morphogenesis and function. Several studies have recently investigated the role of Stau2 regulation its neuronal target mRNAs, with particular focus on hippocampus. Here, we provide evidence for expression function cerebellar Purkinje cells. We show downregulation (Stau2GT) led to increase glutamate receptor ionotropic delta subunit 2 (GluD2) cells when animals performed physical activity by voluntary wheel running...
Neurological symptoms associated with Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) vaccination were discovered in the context of billions administered vaccine doses. The clinical manifestations often resemble post Coronavirus Disease 2019 (post-COVID-19) syndrome (PCS) features and may be considered as post-COVID-19 (PVS). Data regarding frequency, severity pathophysiological mechanisms are scarce.We assessed routine examinations 50 patients reporting new-onset neurological...
In contrast to inherited transthyretin amyloidosis (A-ATTRv), neuropathy is not a classic leading symptom of wild type (A-ATTRwt). However, neurological symptoms are increasingly relevant in A-ATTRwt as well. To better understand the role A-ATTRwt, patients were prospectively characterized at Amyloidosis Center Charité Berlin (ACCB) between 2018 and 2023 using detailed examination, quality life questionnaires, analysis age- BMI-adapted serum neurofilament light chain (NFL) levels. 16 out 73...
Layer-specific left ventricular (LV) strain alterations have been suggested as a specific finding in Fabry disease (FD). Our study aimed to assess the diagnostic value of layer-specific radial (RS) indices compared established LV regional pattern cardiac amyloidosis (CA) and FD, i.e. apical sparing posterolateral deficiency (PLSD).
X-linked variants in Filamin A (FLNA) are associated with the Ehlers-Danlos-syndrome-variant form of periventricular heterotopia, and autosomal dominant ubiquitin C-terminal hydrolase L1 (UCHL1) a late-onset spastic ataxia, peripheral neuropathy optic atrophy. Here we present rare case involving both novel heterozygous whole-gene deletion UCHL1 frameshift variant FLNA gene resulting complex phenotype. 67-year-old female confirmed pathogenic gene, an enlarged aorta joint pains, presented...