Author
University College LondonORCID 0000-0003-2642-0890Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Veronica Pini, Anthony Accorsi, Ajay Kumar…·Mahasweta Girgenrath
The paper investigates fibrogenic pathways in LAMA2-related congenital muscular dystrophy, showing early ECM remodeling and myofibroblast transdifferentiation in both mouse models and human patients.
Veronica Pini, Francesco Catapano, Rosa Bonaccorso…·Francesco Muntoni A
The paper identifies novel molecular pathways and biomarkers in LAMA2-RD patients by comparing transcriptomic profiles of those with complete versus partial laminin-211 deficiency.
Wouter Steyaert, Lydia Sagath, German M. Demidov…·Alexander Hoischen
The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.