A5073520377- Social Robot Interaction and HRI
- Metabolism and Genetic Disorders
- Robot Manipulation and Learning
- Reinforcement Learning in Robotics
- Mitochondrial Function and Pathology
- Context-Aware Activity Recognition Systems
- Intelligent Tutoring Systems and Adaptive Learning
- Multimodal Machine Learning Applications
- Genetics and Neurodevelopmental Disorders
- Educational Games and Gamification
- Human-Automation Interaction and Safety
- Ethics and Social Impacts of AI
- Genomics and Rare Diseases
- Stroke Rehabilitation and Recovery
- ATP Synthase and ATPases Research
- Innovative Teaching and Learning Methods
- Topic Modeling
- Speech and dialogue systems
- Explainable Artificial Intelligence (XAI)
- AI in Service Interactions
- Trace Elements in Health
- Glycogen Storage Diseases and Myoclonus
- Robotics and Automated Systems
- Human Pose and Action Recognition
- Neurogenetic and Muscular Disorders Research
Universität Hamburg
2015-2025
University Medical Center Hamburg-Eppendorf
2015-2025
Eindhoven University of Technology
2020-2024
Delft University of Technology
2022-2024
Yale University
2018-2019
Klinik und Poliklinik für Kinder- und Jugendmedizin
2017-2019
The University of Texas at Arlington
2014-2018
National Centre of Scientific Research "Demokritos"
2014-2017
Association for Computing Machinery
2015
Laboratoire d'Informatique de Paris-Nord
2015
VPS13 protein family members VPS13A through VPS13C have been associated with various recessive movement disorders. We describe the first disease association of rare VPS13D variants including frameshift, missense, and partial duplication mutations a novel complex, hyperkinetic neurological disorder. The clinical features include developmental delay, childhood onset disorder (chorea, dystonia, or tremor), progressive spastic ataxia paraparesis. Characteristic brain magnetic resonance imaging...
PurposeSLC39A8 deficiency is a severe inborn error of metabolism that caused by impaired function manganese in humans. Mutations SLC39A8 lead to the transporter ZIP8 and thus deficiency. Due important role Mn2+ as cofactor for variety enzymes, resulting phenotype complex severe. The manganese-dependence β-1,4-galactosyltransferases leads secondary hypoglycosylation, making both disorder trace element congenital glycosylation. Some hypoglycosylation disorders have previously been treated with...
Socially-Assistive Robotics (SAR) has been extensively used for a variety of applications, including educational assistants, exercise coaches and training task instructors. The main goal such systems is to provide personalized tailored session that matches user abilities needs. While objective measures (e.g., performance) can be adjust parameters difficulty), towards personalization, it essential also monitor engagement personalize their strategies maximize the effects session. We propose an...
Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) is caused by biallelic variants in SERAC1 . Methods This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. Results Sixty‐seven individuals (39 previously unreported) from 59 families were included (age range = 5 days–33.4 years, median age 9 years). A total 41 different identified,...
In developed countries, global developmental disorders are encounter- ed in approximately 1% of all children. The causes manifold, and no exogenous cause can be identified about half the affected parallel investi- gation coding sequences genes individual (whole exome sequencing, WES) has into a successful diagnostic method for identify- ing problem. It is not yet clear, however, when WES should best used routine clinical practice order to exploit potential this fullest.
Osteopetrosis is an inherited disorder of impaired bone resorption, with the most commonly affected genes being CLCN7 and TCIRG1, encoding Cl(-) /H(+) exchanger CLC-7 a3 subunit vacuolar H(+) -ATPase, respectively. We others have previously shown that disease frequently accompanied by osteomalacia, this additional pathology also found in Tcirg1-deficient oc/oc mice. The remaining question was whether osteoid enrichment specifically associated TCIRG1 inactivation, or mutations would cause...
Defective nectin-1 and -4 have been implicated in ectodermal dysplasia (ED) syndromes with variably associated features including orofacial limb defects. In particular, mutations cause cleft lip/palate ED (CLPED1; OMIM#225060), whereas defective nectin-4 is ED-syndactyly syndrome (EDSS1; OMIM#613573). Although the broad phenotypic overlap suggests a common mode of action -4, little known about pathogenic mechanisms involved. We report identification of, to our knowledge, previously...
Abstract Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (MKD/HIDS) are disorders of cholesterol biosynthesis caused by variants in the MVK gene characterized increased urinary excretion mevalonic acid. So far, 30 MVA patients have been reported, suffering from recurrent febrile crises neurologic impairment. Here, we present an in‐depth analysis phenotypic spectrum provide in‐silico pathogenicity model missense variants. The 11 (age range 0‐51 years) registered Unified...
ABSTRACT Isolated methylmalonic acidemia (MMA) is a rare, genetically heterogeneous group of metabolic disorders resulting from deficiency the enzyme methylmalonyl‐CoA mutase (MMUT), defects in metabolism its cofactor, adenosylcobalamin, or epimerase. With improved awareness, earlier diagnosis, and advances care, women with MMA are increasingly reaching childbearing age, successful pregnancies have been documented patients milder forms disease. This report details, for first time, management...
Abstract Background Rare diseases are often complex, chronic and many of them life-shortening. In Germany, healthcare for rare is organized in expert centers diseases. Most patients additionally have regional general practicioners specialists basic medical care. Thus, collaboration information exchange between sectors highly relevant. Our study focuses on the patient caregiver perspective intersectoral interdisciplinary care local professionals (HCPs) Germany. The aims were (1) to...
We report on liver transplantation in two patients with GSD Ib treatment empagliflozin. The use of this SGLT2 inhibitor resulted a marked decrease 1,5-anhydroglucitol which has an important role the development neutropenia condition. As intended, caused significant rise neutrophil numbers. Liver alone did not produce desired effect and our observation argues for continuing after transplantation.
ABSTRACT Pseudotyping can improve retroviral vector stability and transduction efficiency. Here, we describe a novel pseudotype of murine leukemia virus packaged with lymphocytic choriomeningitis (LCMV). This was stable during ultracentrifugation infected several cell lines from different species. Moreover, LCMV glycoproteins were not toxic.
Physical fatigue due to muscle exhaustion is a symptom that can be very common in daily life. However sometimes suspect of more severe diseases such as multiple sclerosis and needs assessed appropriately. Despite the need monitor fatigue, describing it an objective quantifiable manner still open problem great levels subjectivity involved. In this work we propose novel method towards detecting physical fatigue. We design our approach based on EMG measurements aim identify presence subjective...
Peripheral neuropathy is a known irreversible long-term complication of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and mitochondrial trifunctional protein (MTPD), two inherited disorders fatty acid oxidation. The underlying pathophysiology still not fully understood. We report electrophysiological studies neurological findings in series 8 LCHAD-deficient 11 MTP-deficient patients. median age at time the study was 8.0 years (0.5-25 years). overall prevalence 58% with...