Author
University of MünsterORCID 0000-0002-9982-2981Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng…·Dragony Fu
This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.
J. Robert Harkness, John Henry McDermott, Shea Marsden…·William G. Newman
The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.
Lea-Sophie Berendes, Petra Schulze-Westhoff, Ann-Marie Tobinski…·Julien H. Park
This study shows that 2-phospho-L-ascorbic acid treatment improves mitochondrial function and reduces cytotoxicity in HO-1 deficient cells.