Author
Tampere UniversityORCID 0000-0001-9704-0145Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Jenni M. Laitila, Robert A. E. Seaborne, Natasha Ranu…·Julien Ochala
This study tests Mavacamten's ability to rescue metabolic dysregulation in nebulin-deficient muscle, finding it effective in vitro but ineffective in vivo for reversing the proteome changes.
Osma S. Rautila, Karri Kaivola, Harri Rautila…·Pentti J. Tienari
The paper uses haplotype sharing trees and HAPTK to show that intermediate-length C9orf72 repeat alleles share haplotypes with the hexanucleotide repeat expansion, suggesting they are potential premutation alleles.
Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson…·Marco Savarese
The paper investigates ACTN2 variants causing distal myopathy and hypertrophic cardiomyopathy, finding that frameshift variants leading to protein extension cause aggregation, while missense variants do not.
Mridul Johari, Anna Vihola, Johanna Palmio…·Bjarne Udd
This study identifies dysregulation of calcium homeostasis and T-cell apoptosis in IBM through transcriptomic analysis of muscle biopsies.