Katarina Pelin

A serine/threonine kinase gene defective in Peutz–Jeghers syndrome

Akseli Hemminki, David Markie, Ian Tomlinson et al. · Nature · 1998 · 1.6K citations

Genetic Disorder, Medicine, Genetics +4

Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

Maaret Ridanpää, Hans van Eenennaam, Katarina Pelin et al. · Cell · 2001 · 509 citations

Cartilage-hair Hypoplasia, Genetics, Rna Biology +10

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

Kristen L. Nowak, Duangrurdee Wattanasirichaigoon, Hans H. Goebel et al. · Nature Genetics · 1999 · 398 citations

Muscle Physiology, Muscle Function, Health Sciences +11

Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain

Thomas Centner, Junko Yano, Eiichi KIMURA et al. · Journal of Molecular Biology · 2001 · 394 citations

Protein Function, Signal Transduction, Molecular Physiology +11

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Katarina Pelin, Pirta Hilpelä, Kati Donner et al. · Proceedings of the National Academy of Sciences · 1999 · 328 citations · Full text