A5029856968- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Spectroscopy Techniques in Biomedical and Chemical Research
- Spectroscopy and Chemometric Analyses
- RNA modifications and cancer
- Nuclear Structure and Function
- Tumors and Oncological Cases
- Cerebral Palsy and Movement Disorders
- Digital Humanities and Scholarship
- Redox biology and oxidative stress
- Genetic Syndromes and Imprinting
- Teratomas and Epidermoid Cysts
- Genetic Neurodegenerative Diseases
- Intracerebral and Subarachnoid Hemorrhage Research
- Migraine and Headache Studies
- Prenatal Screening and Diagnostics
- Religion, Theology, and Education
- Advanced Glycation End Products research
- Cancer-related molecular mechanisms research
- German History and Society
- Cerebral Venous Sinus Thrombosis
- Enzyme Structure and Function
- biodegradable polymer synthesis and properties
- Parkinson's Disease Mechanisms and Treatments
- Libraries and Information Services
University Medical Center of the Johannes Gutenberg University Mainz
2023-2024
Johannes Gutenberg University Mainz
2013-2024
University of Tübingen
2023-2024
Universitätsklinikum Tübingen
2024
University Medical Center Freiburg
2008-2017
University of Freiburg
2009-2017
Universitätskinderklinik
2008
Abstract To test the validity and reliability of scale for assessment rating ataxia (SARA) in Friedreich (FRDA). SARA is limited to eight items can be performed rapidly. Ninety‐six patients with a molecular genetic diagnosis FRDA were rated using three different clinical scales, Rating Scale (FARS), International Cooperative Ataxia (ICARS), SARA. Despite considerable discrepancies size subscale structure, total scores significantly correlated ICARS (r = 0.953, P < 0.0001) FARS 0.938,...
Spatial transcriptomics of histological sections have revolutionized research in life sciences and enabled unprecedented insights into genetic processes involved tissue reorganization. However, contrast to genomic analysis, the actual biomolecular composition sample has fallen behind, leaving a gap potentially highly valuable information. Raman microspectroscopy provides untargeted spatiomolecular information at high resolution, capable filling this gap. In study we demonstrate spatially...
Direct RNA sequencing (DRS) is a nanopore-based technique for analyzing in its native form, promising breakthroughs diagnostics and biomarker development. Coupled to RNA002 chemistry, clinical implementation has been challenging due low throughput, accuracy, lack of large-scale RNA-modification models. In this study, we evaluate the improvements achieved by pairing latest RNA004 chemistry with novel modified-base-calling models pseudouridine N6-methyladenosine using diverse samples from cell...
Cyclophilin A (CyPA) induces leucocyte recruitment and platelet activation upon release into the extracellular space. Extracellular CyPA therefore plays a critical role in immuno-inflammatory responses tissue injury thrombosis activation. To date, CD147 (EMMPRIN) has been described as primary receptor mediating effects of platelets leucocytes. The for advanced glycation end products (RAGE) shares inflammatory prothrombotic properties also found to have similar ligands CD147. In this study,...
<title>Abstract</title> Direct RNA sequencing (DRS) is a nanopore-based technique for analyzing in its native form, promising breakthroughs diagnostics and biomarker development. Coupled to RNA002 chemistry, clinical implementation has been challenging due low throughput, accuracy, lack of large-scale RNA-modification models. In this study, we evaluate the improvements achieved by pairing latest RNA004 chemistry with novel modified-base-calling models pseudouridine...
Unilateral thalamic infarction is a rare condition in adults. This case report of young child presenting with left-sided hemiparesis sudden onset due to an unilateral venous infarction. was attributed asymmetric thrombosis the cerebral internal veins, partial vein Galen and straight sinus. Magnetic resonance imaging resulted primarily differential diagnosis tumor or intracerebral abscess, leading stereotactic puncture. Subsequent magnetic venography facilitated correct diagnosis....
Background: The importance of early diagnosis 5q-Spinal muscular atrophy (5q-SMA) has heightened as intervention can significantly improve clinical outcomes. In 96% cases, 5q-SMA is caused by a homozygous deletion SMN1. Around 4 % patients carry SMN1 and single-nucleotide variant (SNV) on the other allele. Traditionally, based multiplex ligation probe amplification (MLPA) to detect or heterozygous exon 7 deletions in Due high homologies within SMN1/SMN2 locus, sequence analysis identify SNVs...
Abstract Adaptive nanopore sequencing as a diagnostic method for imprinting disorders and episignature analysis revealed an intragenic duplication of Exon 6 7 in UBE3A (NM_000462.5) patient with relatively mild Angelman-like syndrome. In all-in-one DNA hypomethylation the SNURF :TSS-DMR, known contributing deletions on maternal allele point mutations could be ruled out disease drivers. contrast, breakpoints orientation tandem clearly defined. Segregation family showed that derived de novo...
Hairy polyps were first described by Brown-Kelly1 in 1918. They are rare benign malformations of the oropharynx and nasopharynx comprising elements ectodermal mesodermal origins foreign to sites which they found.2 Although rare, have be considered children, especially newborns, with intermittent dyspnea.
We report the case of a 14 year old girl who first presented with vomiting, discrete paresis in right arm and severe confusion. The history showed no infection or drug abuse, but there where two episodes migraine extremities, at last weeks before admission. confusion was very she needed sedation propofol neurocil intensive care unit. examination afterwards total retrograde amnesia. Apart from that internal neurological normal, had headache. EEG, CT, MRI MR-Angio brain normal. There were...
Bibliographie: Haug, Verena: Johanna Gehmacher, Klara Löffler (Hg.): Storylines and Blackboxes. Autobiographie und Zeugenschaft in der Nachgeschichte von Nationalsozialismus Zweitem Weltkrieg, Wien: new academic press 2017 (Beiträge des VWI zur Holocaustforschung, Band 4, hg. vom Wiener Wiesenthal Institut für Holocaust-Studien), 260 Seiten, 22,00 €., BIOS – Zeitschrift Biographieforschung, Oral History Lebensverlaufsanalysen, 1-2/2017, S. 304-307. https://doi.org/10.3224/bios.v30i1-2.19