Mareike Schimmel
A5102733315- Multiple Sclerosis Research Studies
- Peripheral Neuropathies and Disorders
- Autoimmune Neurological Disorders and Treatments
- Systemic Lupus Erythematosus Research
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Congenital Anomalies and Fetal Surgery
- RNA regulation and disease
- Childhood Cancer Survivors' Quality of Life
- Neuroscience and Neuropharmacology Research
- Congenital heart defects research
- Neurofibromatosis and Schwannoma Cases
- Virology and Viral Diseases
- Amino Acid Enzymes and Metabolism
- Chromatin Remodeling and Cancer
- RNA Research and Splicing
- Fetal and Pediatric Neurological Disorders
- Metabolism and Genetic Disorders
- Neuroblastoma Research and Treatments
- Ocular Diseases and Behçet’s Syndrome
- Polyomavirus and related diseases
- Adolescent and Pediatric Healthcare
- Neurological and metabolic disorders
- Acute Lymphoblastic Leukemia research
University of Augsburg
2019-2025
University Hospital Augsburg
2015-2024
University of Bern
2023
Humboldt State University
2023
Ludwig-Maximilians-Universität München
2022
Witten/Herdecke University
2022
Klinikum Stuttgart
2022
LMU Klinikum
2022
Olgahospital
2022
University Medical Center Freiburg
2022
<h3>Objective:</h3> To assess the prognostic value of MOG antibodies (abs) in differential diagnosis acquired demyelinating syndromes (ADS). <h3>Methods:</h3> Clinical course, MRI, MOG-abs, AQP4-abs, and CSF cells oligoclonal bands (OCB) children with ADS 24 months follow-up were reviewed this observational prospective multicenter hospital-based study. <h3>Results:</h3> Two hundred ten included diagnosed acute disseminated encephalomyelitis (ADEM) (n = 60), neuromyelitis optica spectrum...
Evidence for the efficacy of nusinersen in adults with 5q-associated spinal muscular atrophy (SMA) has been demonstrated up to a period 16 months relatively large cohorts but whereas patients reach plateau over time is still be demonstrated. We investigated and safety SMA 38 months, longest date cohort from multiple clinical sites. Our prospective, observational study included adult Germany, Switzerland, Austria (July 2017 May 2022). All participants had genetically-confirmed, were treated...
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...
<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...
<h3>Objective</h3> To determine the frequency and clinical-radiological associations of antibodies to myelin oligodendrocyte glycoprotein (MOG) aquaporin-4 (AQP4) in children presenting with neuromyelitis optica (NMO) limited forms. <h3>Methods</h3> Children a first event NMO, recurrent (RON), bilateral ON (BON), longitudinally extensive transverse myelitis (LETM) or brainstem syndrome (BS) clinical follow-up more than 12 months were enrolled. Serum samples tested for MOG- AQP4-antibodies...
The spectrum of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disorder (MOGAD) comprises monophasic diseases such as acute disseminated encephalomyelitis (ADEM), optic neuritis (ON), and transverse myelitis relapsing courses these presentations. Persistently high MOG antibodies (MOG immunoglobulin G [IgG]) are found in patients with a disease course. Prognostic factors to determine the clinical course children first MOGAD still lacking. objective study is assess laboratory...
We retrospectively evaluated predictors of conversion to multiple sclerosis (MS) in 357 children with isolated optic neuritis (ON) as a first demyelinating event who had median follow-up 4.0 years. Multiple Cox proportional-hazards regressions revealed abnormal cranial magnet resonance imaging (cMRI; hazard ratio [HR] = 5.94, 95% confidence interval [CI] 3.39-10.39, p < 0.001), presence cerebrospinal fluid immunoglobulin G oligoclonal bands (OCB; HR 3.69, CI 2.32-5.86, and age (HR 1.08 per...
Abstract Background New-generation, cell-based assays have demonstrated a robust association of serum autoantibodies to full-length human myelin oligodendrocyte glycoprotein (MOG-IgG) with (mostly recurrent) optic neuritis, myelitis, and brainstem encephalitis, as well neuromyelitis optica (NMO)-like or acute-disseminated encephalomyelitis (ADEM)-like presentations. However, only limited data are yet available on cerebrospinal fluid (CSF) findings in MOG-IgG-associated (MOG-EM; also termed...
Abstract Newborn screening for 5qSMA offers the potential early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on outcomes of individuals with 4 copies SMN2 , and there is no consensus within SMA treatment community regarding early initiation in this subgroup. To provide evidence-based insights into disease progression, we performed a retrospective analysis 268 patients from SMArtCARE registry Germany, Austria Switzerland. Inclusion criteria required...
The case of a 12-year-old girl with the typical clinical symptoms recently described anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is reported. Within 6 weeks full spectrum this condition presented seizures, agitation, stupor, autonomic instability, dysphagia and hypoventilation leading to diagnosis pernicious catatonia. MRI CSF glucose, protein lactate were repeatedly normal. EEG revealed rhythmical slowing. No teratoma was detected. Recognition unique pattern led early...
A serum antibody against the inward rectifying potassium channel KIR4.1 (KIR4.1-IgG) was recently discovered, which is found in almost half of adult patients with multiple sclerosis. We investigated prevalence KIR4.1-IgG children acquired demyelinating disease (ADD) CNS. also compared responses to and myelin oligodendrocyte glycoproteins (MOGs), another potential autoantigen childhood ADDs.We measured by ELISA ADD (n = 47), other neurologic 22), autoimmune healthy controls (HCs) 18). One...
Paediatric multiple sclerosis (pedMS) patients at a single site were shown to have reduced brain volumes and failure of age-expected growth compared healthy controls. However, the precise time onset volume loss remains unclear.To longitudinally study in multi-centre European cohort first presentation after 2 years.Brain high-resolution magnetic resonance imaging (MRI) data from 37 pedMS prior steroid therapy 2-year follow-up ( n = 21) matched longitudinal MRI NIH Data Repository.Patients...
To evaluate disease symptoms, and clinical magnetic resonance imaging (MRI) findings to perform longitudinal volumetric MRI analyses in a European multicenter cohort of pediatric anti-N-methyl-D-aspartate receptor encephalitis (NMDARE) patients.We studied 38 children with NMDARE (median age = 12.9 years, range =1-18) total 82 scans for compared matched healthy controls. Mixed-effect models brain volume z scores were applied estimate development. Ordinal logistic regression ordinal mixed used...
Abstract Background Clinicians have questioned whether any disorder involving seizures and neural antibodies should be called “(auto)immune epilepsy.” The concept of “acute symptomatic seizures” may more applicable in cases with against cell surface antigens. We aimed at determining the probability achieving seizure-freedom, use anti-seizure medication (ASM), immunotherapy patients either constellation. As a potential pathophysiological correlate, we analyzed antibody titer courses. Methods...
Background and objectives: Disease progression in patients with spinal muscular atrophy (SMA) has changed dramatically within the past years due to approval of three different disease-modifying treatments. Nusinersen was first drug be approved for treatment SMA patients. Clinical trials provided data from infants type 1 children 2, but there is still insufficient evidence only scarcely reported long-term experience nusinersen ambulant Here, we report SMArtCARE registry under a follow-up...
Anti-N-methyl-D-aspartate receptor encephalitis (NMDARE) is the most common form of autoimmune in children and adults. Although our understanding disease mechanisms has progressed, little known about estimating patient outcomes. Therefore, NEOS (anti-NMDAR Encephalitis One-Year Functional Status) score was introduced as a tool to predict progression NMDARE. Developed mixed-age cohort, it currently remains unclear whether can be optimized for pediatric NMDARE.This retrospective observational...
FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to delineate genotype and phenotype associations.We compiled 34 patients (likely) pathogenic variant. Qualitative assessment was performed standardized re-analysis all MRI data sets. Statistical analysis genetic, clinical were performed. We quantified phenotypes...