A5079537507- Multiple Sclerosis Research Studies
- Peroxisome Proliferator-Activated Receptors
- RNA regulation and disease
- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Peripheral Neuropathies and Disorders
- RNA Research and Splicing
- Mitochondrial Function and Pathology
- Polyomavirus and related diseases
- Cerebrospinal fluid and hydrocephalus
- Autism Spectrum Disorder Research
- Hereditary Neurological Disorders
- Traumatic Brain Injury and Neurovascular Disturbances
- Fetal and Pediatric Neurological Disorders
- Adenosine and Purinergic Signaling
- Cancer-related gene regulation
- Folate and B Vitamins Research
- Cancer, Hypoxia, and Metabolism
- Genomics and Rare Diseases
- Neurological diseases and metabolism
- Rheumatoid Arthritis Research and Therapies
- Systemic Lupus Erythematosus Research
- Child Nutrition and Feeding Issues
Universitätsmedizin Göttingen
2016-2025
University of Göttingen
2016-2025
Jena University Hospital
2023
Novartis (Switzerland)
2020
University of Basel
2020
Nephrologisches Zentrum Goettingen
2004-2019
Marche Polytechnic University
2018
University College London
2018
University of Colorado Denver
2016
University of Florence
2016
The mechanisms behind CSF flow in humans are still not fully known. circulates from its primary production sites at the choroid plexus through brain ventricles to reach outer surface of subarachnoid spaces where it drains into venous bloodstream and cervical lymphatics. According a recent concept fluid transport, established rodents, also enters tissue along para-arterial routes exits paravenous again compartments. This unidirectional is mainly driven by arterial pulsation. To investigate...
Treatment of patients younger than 18 years age with multiple sclerosis has not been adequately examined in randomized trials. We compared fingolimod interferon beta-1a this population.In phase 3 trial, we randomly assigned 10 to 17 relapsing a 1:1 ratio receive oral at dose 0.5 mg per day (0.25 for body weight ≤40 kg) or intramuscular 30 μg week up 2 years. The primary end point was the annualized relapse rate.Of total 215 patients, 107 were and 108 beta-1a. mean 15.3 Among all there 2.4...
D-bifunctional protein deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. Although case reports and small series patients have been published, these do not give a complete balanced picture the clinical biochemical spectrum associated with this disorder.To improve early recognition, diagnosis, prognosis, management disorder to provide markers for life expectancy, we performed extensive studies in large cohort protein-deficient sent out questionnaires about...
To study the humoral immune response directed at myelin oligodendrocyte glycoprotein (MOG)in pediatric patients with isolated and recurrent optic neuritis(ON).Observational prospective case series.Six hospitals in Germany Austria.Thirty-seven 18 years or younger single episodes of ON were recruited from 6 different hospitals.Clinical features, magnetic resonance imaging findings, intrathecal IgG synthesis,and outcome recorded. A live cell–based immunofluorescence assay was used to measure...
Translational readthrough gives rise to low abundance proteins with C-terminal extensions beyond the stop codon. To identify functional translational readthrough, we estimated propensity (RTP) of all codon contexts human genome by a new regression model in silico, identified nucleotide consensus motif for high RTP using this model, and analyzed silico predictor peroxisomal targeting signal type 1 (PTS1). Lactate dehydrogenase B (LDHB) showed highest combined PTS1 probability. Experimentally...
CSF flux is involved in the pathophysiology of neurodegenerative diseases and cognitive impairment after traumatic brain injury, all hallmarked by accumulation cellular metabolic waste. Its effective disposal via various routes has been demonstrated animal models. In contrast, dynamics humans are still poorly understood. Using novel real-time MRI, forced inspiration identified recently as a main driving force flow human brain. Exploiting technical advances toward phase-contrast current work...
Rett syndrome (RTT) is an inborn neurodevelopmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 gene (MECP2). Besides mental retardation, most patients suffer from potentially life-threatening breathing arrhythmia. To study its pathophysiology, we performed comparative analyses of phenotype Mecp2-/y knockout (KO) and C57BL/6J wild-type mice using perfused working heart-brainstem preparation (WHBP). We simultaneously recorded phrenic efferent vagal nerve...
Some pediatric patients with inflammatory demyelinating central nervous system disorders cannot be classified under any of the established disease entities, making their treatment and prognosis difficult.The objective this study is to characterize a subgroup recurrent disorders.This includes case series monophasic or acute disseminated encephalomyelitis (ADEM) who later presented either optic neuritis (ON).We describe seven median follow-up six years (five females, two males) at age 6 (range...
<h3>Objective</h3> To characterize the neurologic phenotypes associated with <i>COL4A1/2</i> mutations and to seek genotype–phenotype correlation. <h3>Methods</h3> We analyzed clinical, EEG, neuroimaging data of 44 new 55 previously reported patients <i>COL4A1/COL4A2</i> mutations. <h3>Results</h3> Childhood-onset focal seizures, frequently complicated by status epilepticus resistance antiepileptic drugs, was most common phenotype. EEG typically showed epileptiform discharges in context...
Cerebral folate transport deficiency is an inherited brain-specific defect that caused by mutations in the receptor 1 gene coding for alpha (FRα). This genetic gives rise to a progressive neurological disorder with late infantile onset. We screened 72 children low 5-methyltetrahydrofolate concentrations cerebrospinal fluid and symptoms developed after infancy. identified nucleotide alterations 10 individuals who shared developmental regression, ataxia, profound cerebral hypomyelination...
<h3>Objective:</h3> We aimed to delineate the clinical and genetic spectrum of ATP1A3-related disorders recognition a potential genotype-phenotype correlation. <h3>Methods:</h3> identified 16 new patients with alternating hemiplegia childhood (AHC) 3 rapid-onset dystonia-parkinsonism (RDP) included these as well molecular findings all previously reported 164 mutation-positive AHC RDP in our analyses. <h3>Results:</h3> Major characteristics shared common by comprise strikingly asymmetric,...
Peroxisomes are situated in the cell adjacent to specific subdomains of mitochondria such as ER/Mitochondria contact site or sites enriched for pyruvate dehydrogenase complex.
Background and purpose Pediatric multiple sclerosis (MS) clinical incidence data have been reported for several countries but valid age dependent are not yet available. The true of pediatric MS in Germany was estimated the characteristics at diagnosis according to 2005 McDonald criteria described. Methods Between 2009 2011 active prospective nationwide surveillance children adolescents ≤15 years included all hospitals, centers private practices specialized MS. Data were adjusted...