Discontinuation of carbamazepine due to concerns of long‐term consequences of enzyme induction

por Mäkinen, Jussi, Rainesalo, Sirpa, Raitanen, Jani, Saarinen, Jukka, Sandell, Satu, Peltola, Jukka
Publicado 2018

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene

por Palmio, Johanna, Sandell, Satu, Hanna, Michael G., Männikkö, Roope, Penttilä, Sini, Udd, Bjarne
Publicado 2017

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

por Sandell, Satu, Huovinen, Sanna, Palmio, Johanna, Raheem, Olayinka, Lindfors, Mikaela, Zhao, Fang, Haapasalo, Hannu, Udd, Bjarne
Publicado 2016

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

por Auranen, Mari, Palmio, Johanna, Ylikallio, Emil, Huovinen, Sanna, Paetau, Anders, Sandell, Satu, Haapasalo, Hannu, Viitaniemi, Kati, Piirilä, Päivi, Tyynismaa, Henna, Udd, Bjarne
Publicado 2015

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

por Piirilä, Päivi, Similä, Minna E., Palmio, Johanna, Wuorimaa, Tomi, Ylikallio, Emil, Sandell, Satu, Haapalahti, Petri, Uotila, Lasse, Tyynismaa, Henna, Udd, Bjarne, Auranen, Mari
Publicado 2016

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

por Sarparanta, Jaakko, Jonson, Per Harald, Golzio, Christelle, Sandell, Satu, Luque, Helena, Screen, Mark, McDonald, Kristin, Stajich, Jeffrey M., Mahjneh, Ibrahim, Vihola, Anna, Raheem, Olayinka, Penttilä, Sini, Lehtinen, Sara, Huovinen, Sanna, Palmio, Johanna, Tasca, Giorgio, Ricci, Enzo, Hackman, Peter, Hauser, Michael, Katsanis, Nicholas, Udd, Bjarne
Publicado 2012