A5109638560- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Magnetic properties of thin films
- Parkinson's Disease Mechanisms and Treatments
- Theoretical and Computational Physics
- Amyotrophic Lateral Sclerosis Research
- Neurological disorders and treatments
- DNA Repair Mechanisms
- Magnetic Properties and Applications
- Image Processing and 3D Reconstruction
- Graphene research and applications
- Semiconductor materials and devices
- Family Support in Illness
- Cultural Heritage Management and Preservation
- Prostate Cancer Diagnosis and Treatment
- Advanced Radiotherapy Techniques
- Advanced Memory and Neural Computing
- Physics of Superconductivity and Magnetism
- Historical and Archaeological Studies
- Quantum and electron transport phenomena
- Cellular Automata and Applications
- Electrodeposition and Electroless Coatings
- Cerebrovascular and genetic disorders
- Fetal and Pediatric Neurological Disorders
- Connective tissue disorders research
University Medical Center Groningen
2019-2025
University of Groningen
2019-2025
Charité - Universitätsmedizin Berlin
2023
Max Delbrück Center
2023
University of Twente
2008-2022
Amsterdam UMC Location University of Amsterdam
1999-2015
Tohoku University
2013
KIST Europe
2013
University of Copenhagen
2007
Article8 June 2020Open Access Source DataTransparent process Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage humans mice Carlo Wilke orcid.org/0000-0002-7250-8597 Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University Tübingen, Germany German Neurodegenerative Diseases (DZNE), Search more papers by this author Eva Haas Medical Genetics Applied Genomics, Centre Rare Diseases, Kathrin Reetz Department RWTH Aachen...
Quantifying the volume of cerebellum and its lobes is profound interest in various neurodegenerative acquired diseases. Especially for most common spinocerebellar ataxias (SCA), which first antisense oligonculeotide-base gene silencing trial has recently started, there an urgent need quantitative, sensitive imaging markers at pre-symptomatic stages stratification treatment assessment. This work introduces CerebNet, a fully automated, extensively validated, deep learning method lobular...
Research <i>through</i> design (RTD) is a frequently used concept in the daily practice of education and research field landscape architecture. RTD as usually refers to method which spatial plays leading role. The underlying premise that form involves culture thought. There dearth literature addressing act process This article contributes discourse by how can be applied strategy. We define identify <i>how</i> relates other more conventional definitions methods. elaborate on types knowledge...
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly inherited adult-onset disease. We aimed to describe longitudinal changes in clinical and biological findings identify predictors for progression. Methods used data from participants enrolled the ESMI cohort collected between Nov 09, 2016 July 18, 2023. The freeze included 14 sites five European countries United States. assessed with Scale Assessment Rating of Ataxia (SARA). measured disease-specific mutant...
A pathogenic GAA repeat expansion in the first intron of fibroblast growth factor 14 (FGF14) gene was recently identified as a common cause late-onset spinocerebellar ataxia various populations. In our hospital, approximately 85% adult-onset cases remain genetically unsolved and prevalence GAA-FGF14 is unknown. We, therefore, screened 248 Dutch individuals with for expansions using combination long-range PCR (LR-PCR) repeat-primed (RP-PCR) assessed their clinical presentation. Genomic DNA...
Background: Spinocerebellar ataxia type 3 (SCA3) is one of the most common dominantly inherited worldwide. Despite research advances, no approved disease-modifying treatment exists, and management focuses on symptom alleviation functional capacity maximization. Symptomatic guidelines are scarce, leaving decisions to physicians' discretion. The lack studies SCA3 hinders therapy standardization. This study investigated medication usage patterns among mutation carriers controls recruited by...
Spinocerebellar ataxia type 3 is a rare neurodegenerative disease caused by CAG repeat expansion in the ataxin-3 gene. Although no curative therapy yet available, preclinical gene-silencing approaches to reduce polyglutamine (polyQ) toxicity demonstrate promising results. In view of upcoming clinical trials, quantitative and easily accessible molecular markers are critical importance as pharmacodynamic particularly target engagement markers.We aimed at developing an ultrasensitive...
Gels were produced using kappa-, iota-, or hybrid-carrageenan at a low (0.2-0.25%) and high (0.7-1.0%) dosage in skim milk. The microstructure of carrageenan protein was observed by confocal laser scanning microscopy direct immunostaining. Additionally, rheology used to characterize the gels. kappa- iota-carrageenan dosages resulted gels with fine stranded carrageenan-protein emulsion-like inclusions, while strongly flocculated microstructures. Hybrid-carrageenan exhibited flocculation both...
Spinocerebellar ataxia type 3/Machado-Joseph disease is the most common autosomal dominant ataxia. In view of development targeted therapies, knowledge early biomarker changes needed. We analyzed cross-sectional data 292 spinocerebellar mutation carriers. Blood concentrations mutant ATXN3 were high before and after onset, whereas neurofilament light deviated from normal 13.3 years onset. Pons cerebellar white matter volumes decreased 2.2 0.6 propose a staging model that includes stage...
Cerebellar atrophy is the neuropathological hallmark of most ataxias. Hence, quantifying volume cerebellar grey and white matter great interest. In this study, we aim to identify differences in cerebellum between spinocerebellar ataxia type 1 (SCA1), SCA3 SCA6 as well multiple system (MSA-C). Our cross-sectional data set comprised mutation carriers SCA1 (N=12), (N=62), (N=14), MSA-C patients (N=16). volumes were obtained from T1-weighted magnetic resonance images. To compare different...
This paper describes a fundamental challenge when using silicon oxide nanochannels for analytical systems, namely the occurrence of strong proton release or uptake from walls in any transient situation such as channel filling. Experimentally, fluorescein solutions were introduced into through capillary pressure, distinct bisection fluorescence was observed, zone fluid near entrance fluoresced, while meniscus, dark. The ratio between zones found to be constant time and depend on ionic...
Abstract Background Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There limited data on their frequency, and relation disease severity activities of daily living is not clear. In addition, lifestyle may either influence or be affected by the occurrence NMS. Objective To characterize NMS in SCA3 investigate possible associations factors. Methods prospective cohort study, we performed cross-sectional analysis 227 patients, 42 pre-ataxic mutation carriers, 112...
Two Co/Pt multilayer samples have been fabricated with a difference in the number of bilayers, leading to total magnetic layer thickness 3 nm and 20 nm. From these films, large arrays islands patterned using laser interference lithography ion beam etching. We investigated switching field distribution (SFD) approximately 80 thermal SFDT individual both anomalous Hall effect. compare results measurements (SFDT) previously alloy by comparing over 1000 hysteresis loops single weak island strong...
Abstract Although health-related quality of life (HRQoL) has developed into a crucial outcome parameter in clinical research, evidence the EQ-5D-3L validation performance is lacking patients with spinocerebellar ataxia (SCA) types 1, 2, 3, and 6. The objective this study to assess acceptability, validity, reliability, responsiveness EQ-5D-3L. For n = 842 predominantly European SCA two longitudinal cohort studies, EQ-5D-3L, PHQ-9 (Patient Health Questionnaire), ataxia-specific assessments...
Obtaining an accurate profile of the spatial sensitivity Hall cross structures is crucial if such devices are to be used analyze switching behavior magnetic nanostructures and determine field distribution bit patterned media. Here, we have anomalous effect investigate Co/Pt multilayer nanoislands, where has been integrated into Pt seed layer. Using output voltage observed individual islands, allowing across a structure determined. The experimental results agree well with numerical simulation...
Using the highly sensitive anomalous Hall effect (AHE) we have been able to measure reversal of a single magnetic island, diameter 220nm, in an array consisting more than 80 those islands. By repeatedly traversing hysteresis loop, measured thermally actuated fluctuation switching field islands at lower and higher ends distribution. Based on novel easy-to-use model, determined absence thermal activation, energy barrier external from these fluctuations. measuring individual dots as function...
Little is known about the progression of health-related quality life (HRQoL) and predicting factors in spinocerebellar ataxia (SCA). Such knowledge crucial to identify modifiable promoting everyday with SCA attenuating HRQoL decline.
ABSTRACT Background Lifestyle could influence the course of hereditary ataxias, but representative data are missing. Objective The objective this study was to characterize lifestyle in spinocerebellar ataxia type 3 (SCA3) and investigate possible associations with disease parameters. Methods In a prospective cohort study, on smoking, alcohol consumption, physical activity, physiotherapy, body mass index (BMI) were collected from 243 patients SCA3 119 controls tested for age onset, severity,...
Current digital data storage systems are able to store huge amounts of data. Even though the density information has increased tremendously over last few decades, longevity is limited only a decades. If we want preserve anything about human race which can outlast itself, require medium designed for 1 million billion years. In this paper investigated consisting tungsten encapsulated by siliconnitride which, according elevated temperature tests, will well suggested time.
Parallel frequency readout of an array cantilevers is demonstrated using optical beam deflection with a single laser-diode pair. Multi-frequency addressing makes the individual nanomechanical response each cantilever distinguishable within received signal. Addressing accomplished by exciting sum all resonant frequencies. This technique requires considerably less hardware compared to other parallel techniques. Readout in mode and interference mode. Many can be parallel, limited oscillators'...
Abstract Spinocerebellar ataxia type 3 (SCA3) is a devastating multisystemic neurodegenerative disease for which targeted molecular therapies are coming into reach (e.g. antisense oligonucleotides). To pave the way upcoming translational trials, easily accessible biomarkers in SCA3 needed, particularly subjects at preataxic stage and cross-validated also animal models. We hypothesised that serum neurofilaments might serve as blood of progression both human mouse models, expecting increased...