Publications by authors named "K R Weishaupt"
Article Synopsis
- The introduction of the antisense oligonucleotide tofersen for treating ALS caused by SOD1 mutations emphasizes the need to clarify the impact of over 230 SOD1 variants, particularly the debated p.D91A variant common in Europe.
- A study involving 11 ALS patients treated with tofersen for up to 16 months shows that it significantly reduces serum neurofilament light chain (sNfL) levels, which are linked to ALS progression, in both homozygous and heterozygous SOD1 patients.
- These findings support the role of mono- and bi-allelic SOD1 variants as relevant targets for treatment, offering a new perspective for assessing causality based on biomarker responses in clinical
Frequency of and mutations in 302 sporadic ALS patients from three German ALS centers.
Amyotroph Lateral Scler Frontotemporal Degener
August 2023
Article Synopsis
- * A study genotyped 302 SALS patients, revealing an 8.9% occurrence of hexanucleotide repeat expansions (HRE) and some mutations related to ALS.
- * The findings indicate a higher-than-expected frequency of HRE in SALS patients, suggesting that many may benefit from targeted gene therapies currently in development.
Objectives: Due to upcoming gene-specific therapy approaches for ALS patients, understanding familial and sporadic ALS genetics is becoming increasingly important. In this study, we wanted to investigate underlying genetic causes for an SALS patient.
Methods: We performed ALS gene panel sequencing and subsequent segregation analysis in the family.
Diffuse reflecting (white) and highly absorbing (black) fused silica based materials are presented, which combine volume modified substrates and surfaces equipped with anti-reflective moth-eye-structures. For diffuse reflection, micrometer sized cavities are created in bulk fused silica during a sol-gel process. In contrast, carbon black particles are added to get the highly absorbing material.
View Article and Find Full Text PDFWe present a hybrid antireflective coating (ARC) providing a complete continuous graded refractive index (GRIN) transition from a high-index substrate down to ambient air. The ARC comprises a first GRIN layer of dense silicon-oxy-nitride with a varying, height adjusted material composition. Secondly, a layer of quasi-periodic nanopillars imitating AR-"moth-eye structure" is added to the dense GRIN layer.
View Article and Find Full Text PDF