Katarina Pelin
University of Helsinki(FI)Folkhälsans Forskningscentrum(FI)
Publications by Year
Research Areas
Cardiomyopathy and Myosin Studies, Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, Microtubule and mitosis dynamics, Cellular Mechanics and Interactions
Most-Cited Works
- → A serine/threonine kinase gene defective in Peutz–Jeghers syndrome(1998)1,641 cited
- → Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia(2001)511 cited
- → Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy(1999)399 cited
- → Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain(2001)395 cited
- → Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy(1999)329 cited
- → Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy(2002)225 cited
- → Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy