Publications by authors named "M Wachter"
Article Synopsis
- RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
- The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
- Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
Article Synopsis
- The study explores the challenge of treating head and neck tumors due to their low radiosensitivity and investigates whether small molecule kinase inhibitors (smKIs) can enhance the effectiveness of radiotherapy by altering immune-related factors in tumor cells.
- The researchers combined ATM and ATR inhibitors with a specific radiotherapy regimen and examined various effects, including tumor cell death, immune checkpoint marker expression, and cytokine release using cell lines with different HPV statuses.
- Results showed that while the combination therapy effectively induced cell death, particularly with ATR inhibitors, it also altered the immune profile of surviving cancer cells, suggesting a complex interaction between treatment types and immune responses.
Limb-girdle muscular dystrophy (LGMD) type R1 (LGMDR1) is the most common subtype of LGMD in Europe. Prospective longitudinal data, including clinical assessments and new biomarkers such as quantitative magnetic resonance imaging (qMRI), are needed to evaluate the natural course of the disease and therapeutic options. We evaluated eight thigh and seven leg muscles of 13 LGMDR1 patients (seven females, mean age 36.
View Article and Find Full Text PDFA new concept for the regioselective synthesis of Hamilton-receptor and cyanurate-functionalized oligo adducts of the fullerene C was developed. Based on an in-situ deprotection and click-post-functionalization approach with novel azido precursors, the corresponding fullerene hexakis-adducts with octahedral addition patterns and up to twelve Hamilton-receptor/cyanurate moieties surrounding the fullerene sphere were synthesized. The versatility of this approach was further demonstrated by the synthesis of Hamilton-receptor/cyanurate functionalized fullerene mono-adducts, which are not accessible by direct cyclopropanation.
View Article and Find Full Text PDFArticle Synopsis
- Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are rare genetic conditions linked to pathogenic changes in GPI-AP genes, affecting multiple body systems and often presenting with severe neurological symptoms.
- A study analyzed 83 individuals from 75 families with IGDs, revealing that core symptoms include developmental delays (90%), seizures (83%), and motor issues (64%), along with significant brain imaging findings like cerebral atrophy in 75% of cases.
- The research highlights a wide range of phenotypic diversity, with no single dysmorphic feature being very common, and notes that individuals with certain genetic variants experience seizures earlier, indicating differences in prognosis based on genetic factors.