Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy caused by a 1.5 Mb tandem duplication of chromosome 17 harbouring the PMP22 gene. This dose-dependent overexpression of PMP22 results in disrupted Schwann cell myelination of peripheral nerves. To obtain better insights into the underlying pathogenic mech...
BACKGROUND: Biomechanical evaluations of sport-specific jump-landing tasks may provide a more ecologically valid interpretation compared to generic jump-landing tasks. For accurate interpretation of longitudinal research, it is essential to understand the reliability of biomechanical parameters of sport-specific jump-landing tasks. RESEARCH QUESTIO...
BACKGROUND: Previous findings from a clinical trial demonstrated noninferiority of Leukocyte- and platelet-rich fibrin (L-PRF) compared to commercially available fibrin sealants in preventing postoperative cerebrospinal fluid leakage, necessitating intervention. This cost-effectiveness evaluation aims to assess the value-for-money of both technique...
status: accepted
Epigenetic factors are well-established players in memory formation. Specifically, DNA methylation is necessary for the formation of long-term memory in multiple brain regions including the hippocampus. Despite the demonstrated role of DNA methyltransferases (Dnmts) in memory formation, it is unclear whether individual Dnmts have unique or redundan...
The role of long-term parenteral support in patients with underlying benign conditions who do not have intestinal failure (IF) is contentious, not least since there are clear benefits in utilising the oral or enteral route for nutritional support. Furthermore, the risks of long-term home parenteral nutrition (HPN) are significant, with significant ...
Oxytocin administration has demonstrated considerable promise for providing individualized support for autistic people. However, studies evaluating the effects of oxytocin administration on autistic characteristics have yielded inconsistent results. This systematic review and meta-analysis investigates the effect of oxytocin administration on socia...
BACKGROUND: Blood neurofilament light chain (NfL) is increasingly considered as a key trial biomarker in genetic frontotemporal dementia (gFTD). We aimed to facilitate the use of NfL in gFTD multicentre trials by testing its (1) reliability across labs; (2) reliability to stratify gFTD disease stages; (3) comparability between blood matrices and (4...
Wolfram syndrome (WS) is a rare childhood disease characterized by diabetes mellitus, diabetes insipidus, blindness, deafness, neurodegeneration and eventually early death, due to autosomal recessive mutations in the WFS1 (and WFS2) gene. While it is categorized as a neurodegenerative disease, it is increasingly becoming clear that other cell types...
Electroencephalography (EEG) is a technique for non-invasively measuring neuronal activity in the human brain using electrodes placed on the participant's scalp. With the advancement of digital technologies, EEG analysis has evolved over time from the qualitative analysis of amplitude and frequency modulations to a comprehensive analysis of the com...
