A5011230186- Restless Legs Syndrome Research
- Parkinson's Disease Mechanisms and Treatments
- Sleep and Wakefulness Research
- Dysphagia Assessment and Management
- Child Nutrition and Feeding Issues
- Genetic Neurodegenerative Diseases
- Neuroscience of respiration and sleep
- Obstructive Sleep Apnea Research
- Neurological disorders and treatments
- Respiratory Support and Mechanisms
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Nerve injury and regeneration
- Connective tissue disorders research
- Sleep and related disorders
- Asthma and respiratory diseases
- Circadian rhythm and melatonin
- Vestibular and auditory disorders
- Receptor Mechanisms and Signaling
- Neurological and metabolic disorders
- Older Adults Driving Studies
- RNA and protein synthesis mechanisms
- Genetics, Aging, and Longevity in Model Organisms
- Genomics and Phylogenetic Studies
- Cellular Mechanics and Interactions
- Molecular Biology Techniques and Applications
Technical University of Munich
2019-2024
Helmholtz Zentrum München
2015-2024
Klinikum rechts der Isar
2019-2024
Philipps University of Marburg
2018-2020
University of St Andrews
2020
McGill University
2020
Tampere University
2013-2015
Tampere University Hospital
2014
Commissariat à l'Énergie Atomique et aux Énergies Alternatives
2014
In this study we examine the temporal connection between periodic leg movements (PLMs) and cortical arousals, as well treatment effect of pramipexole, in a clinical case with spinal cord lesion.A patient complete cervical injury PLMs during sleep underwent two baseline recordings, one recording dopaminergic treatment, adaptive servoventilation.The were temporally dissociated from arousals respiratory or heart rate events. suppressed by pramipexole persisted after apnea.The disconnection...
MEIS1 is a developmental transcription factor linked to restless legs syndrome (RLS) in genome-wide association studies. RLS movement disorder leading severe sleep reduction and with significant impact on the quality-of-life of patients. In studies, has consistently been gene highest effect size functional studies suggest disease-relevant downregulation. Therefore, haploinsufficiency Meis1 could be most potential system for modeling animals. We used heterozygous knock-out mice study effects...
Expansive knowledge of bacterial metabolism has been gained from genome sequencing output, but the high proportion genes lacking a proper functional annotation in given still impedes accurate prediction cell. To access to more global view functioning soil bacterium Acinetobacter baylyi ADP1, we adopted multi 'omics' approach. Application RNA-seq transcriptomics and LC/MS-based metabolomics, along with systematic phenotyping complete collection single-gene deletion mutants A. ADP1 made...
Restless legs syndrome is a frequent neurological disorder with substantial burden on individual well-being and public health. Genetic risk loci have been identified, but the causatives genes at these are largely unknown, so that functional investigation clinical translation of molecular research data still inhibited. To identify putatively causative genes, we searched for highly significant mutational in candidate genes.We analyzed 84 4,649 patients 4,982 controls by next generation...
Restless legs syndrome (RLS) is a neurological disorder characterized by uncomfortable or unpleasant sensations in the during rest periods. To relieve these sensations, patients move their legs, causing sleep disruption. While pathogenesis of RLS has yet to be resolved, there strong genetic association with MEIS1 gene. A missense variant enriched sevenfold people compared non-affected individuals. We generated mouse line carrying this mutation (p.Arg272His/c.815G>A), referred herein as...
Abstract Study Objectives Several candidate gene studies have been published for idiopathic restless legs syndrome (RLS) in populations of European ancestry, but the reported associations not confirmed independent samples. Our aim was to reassess these findings a large case–control dataset order evaluate their validity. Methods We screened PubMed RLS studies. used genome-wide association study (GWAS) International EU-RLS-GENE Consortium as our replication sample, which provided...
Summary Meis homeobox 1 (Meis1) is a transcription factor functioning in the development of nervous system and cardiovascular system. Both common rare variants within gene have been associated with restless legs syndrome ( RLS ), while its association symptoms insomnia has also discovered recently. sleep disturbances, Meis1 haploinsufficiency one most promising strategies for an animal model, phenotyping knockout mice never conducted. We report detailed analysis heterozygous challenge it...
ABSTRACT Our understanding of the causes and natural course restless legs syndrome (RLS) is incomplete. The lack objective diagnostic biomarkers remains a challenge for clinical research development valid animal models. As task force preclinical scientists, we have previously defined face validity parameters rodent models RLS. In this article, establish new guidelines construct RLS To do so, first determined agreed on risk, triggering factors pathophysiological mechanisms that influence...
<h3>Objective:</h3> A case-control study to measure oxygen and carbon dioxide partial pressures in the legs order assess involvement of peripheral hypoxia or hypercapnia pathogenesis restless syndrome (RLS). <h3>Methods:</h3> RLS severity was assessed with a standard questionnaire. Suggested immobilization tests were performed twice 15 patients 14 healthy controls. Patients participated without pramipexole medication. During tests, measured noninvasively on skin chest. <h3>Results:</h3>...
Previous studies have associated restless legs syndrome (RLS) with peripheral hypoxia and impaired thermoregulation in the lower extremities. We performed long-term monitoring of skin temperatures order to investigate whether these findings could be explained by reduced blood flow tissues.96-hour continuous measurements temperature were both distal proximal parts body 15 patients RLS 14 healthy controls. During recording, participated suggested immobilization tests without pramipexole...
Recent developments in the genetics of restless legs syndrome (RLS) revealed associations disease risk with genetic loci containing genes coding cereblon, protein bound by thalidomide, and its endogenous substrate MEIS2, whose degradation is inhibited thalidomide-cereblon interaction. Therefore it was hypothesized that thalidomide may be a potential treatment option for RLS. Here we report on therapeutic effect patient otherwise treatment-resistant RLS who received 100 mg off-label 3 weeks....
Collagen VI is a key component of muscle basement membranes, and genetic variants can cause monogenic muscular dystrophies. Conversely, human studies recently implicated collagen in central nervous system function, with causing the movement disorder dystonia. To elucidate neurophysiological role VI, we generated mice truncation dystonia-related α3 (COL6A3) C-terminal domain (CTD). These Col6a3 CTT showed recessive dystonia-like phenotype both sexes. We found that COL6A3 interacts cannabinoid...