A5041459228- Technology Adoption and User Behaviour
- Alzheimer's disease research and treatments
- RNA regulation and disease
- Lysosomal Storage Disorders Research
- Cytomegalovirus and herpesvirus research
- Hereditary Neurological Disorders
- EEG and Brain-Computer Interfaces
- Impact of AI and Big Data on Business and Society
- Neural dynamics and brain function
- Amyotrophic Lateral Sclerosis Research
- Neuroscience and Neural Engineering
- Parkinson's Disease Mechanisms and Treatments
- Neuroinflammation and Neurodegeneration Mechanisms
- Peripheral Neuropathies and Disorders
- Genetics and Neurodevelopmental Disorders
- Glycogen Storage Diseases and Myoclonus
- Calpain Protease Function and Regulation
- Epilepsy research and treatment
- Ubiquitin and proteasome pathways
- Mitochondrial Function and Pathology
- Nerve injury and regeneration
- Signaling Pathways in Disease
- Cancer-related Molecular Pathways
- Memory and Neural Mechanisms
- Neurological diseases and metabolism
Technische Universität Braunschweig
2021-2023
University of Saskatchewan
2021
German Center for Neurodegenerative Diseases
2016-2020
Hertie Institute for Clinical Brain Research
2016-2020
University of Tübingen
2016-2020
We investigated the mutation spectrum of TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic by exonic resequencing TBK1 in a cohort 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within European Early-Onset Dementia Consortium. assessed pathogenicity predicted protein-truncating mutations measuring loss RNA expression. Functional effect in-frame amino acid deletions missense was further explored vivo on...
In the collaborative business environment, blockchain coupled with smart contract removes reliance on a central system and offers data integrity which is crucial when transacting parties rely shared data. The acceptance of such blockchain-based systems necessary for continued use services. Despite many extensive studies evaluating performance systems, few have focused users' real-life applications.The main objective this research to evaluate user (BBS) by observing various latent variables...
Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, genotype-phenotype correlation only partly understood, and variability of clinical course between unclear with some evidence for discrepant juvenile patients. The aim this study was to systematically investigate phenotypic variation MLD comparison larger cohort case reports published literature....
The Tau protein can be phosphorylated by numerous kinases. In Alzheimer’s disease (AD) hyperphosphorylated species accumulate as neurofibrillary tangles that constitute a major hallmark of AD. AD is further characterized extracellular Aβ plaques, derived from the β-amyloid precursor APP. Whereas produced amyloidogenic APP processing, processing along competing non-amyloidogenic pathway results in secretion neurotrophic and synaptotrophic APPsα. Recently, we demonstrated APPsα has therapeutic...
Niemann-Pick disease type C (NP-C) is a rare multisystemic lysosomal disorder which, albeit treatable, still starkly underdiagnosed. As NP-C features early onset ataxia (EOA) in 85-90 % of cases, EOA presents promising target group for undiagnosed patients. Here, we assessed the ability previously established suspicion index (SI) and novel abbreviated '2/3 SI' tool rapid appraisal suspected unexplained EOA. This was retrospective observational study comparing 'NP-C EOA' cases (EOA patients...
Alzheimer9s disease (AD) is histopathologically characterized by Aβ plaques and the accumulation of hyperphosphorylated Tau species, latter also constituting key hallmarks primary tauopathies. Whereas produced amyloidogenic APP processing, processing along competing nonamyloidogenic pathway results in secretion neurotrophic synaptotrophic APPsα. Recently, we demonstrated that APPsα has therapeutic effects transgenic AD model mice rescues Aβ-dependent impairments. Here, examined potential to...
High-resolution nerve ultrasound (HRUS) is a painless tool to quickly evaluate peripheral morphology in vivo. This study set out characterize involvement X-linked adrenomyeloneuropathy (AMN) by HRUS. Thirteen adults with genetically proven AMN were examined using the Ultrasound pattern sum score (UPSS) morphological abnormalities of nerves, vagal as well cervical roots. results correlated clinical findings and conduction studies. UPSS was increased six 13 patients. Nerve enlargement mostly...
Abstract Aim The study aims to describe cerebral MRI in different onset forms of Niemann-Pick type C (NPC). Systematic analyses this rare lysosomal storage disease are lacking the infantile and juvenile forms. Methods Thirty-two scans from 19 patients with NPC were assessed using a newly established validated scoring system which addresses white matter changes supratentorial versus infratentorial atrophy. Results Seven six early (<2 years age), three late (2–6 years), four (6–15 13 adult...
Significance Ca 2+ dysfunction is correlated to the progression of Alzheimer’s disease; mechanistic insight into physiological role amyloid precursor protein (APP) for homeostasis still missing. We demonstrate that loss APP and its homolog APLP2, but not APLP2 alone, impairs handling synaptic plasticity because altered function endoplasmic reticulum stores caused by expression SERCA-ATPase as well store-operated channel–associated proteins Stim1 Stim2. Long-term APPsα ectodomain restored...
Task-induced amplitude modulation of neural oscillations is routinely used in brain-computer interfaces (BCIs) for decoding subjects' intents, and underlies some the most robust common methods field, such as spatial patterns Riemannian geometry. While there has been interest phase-related features classification, both techniques usually presuppose that frequencies remain stable across various tasks. We investigate here whether based on task-induced frequency enable intents with an accuracy...