- Laboratory of Neurodegeneration
- Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.
Publications
Title
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.
Author
Rydzanicz M, Wachowska M, Cook EC, Lisowski P, Kuźniewska B, Szymańska K, Diecke S, Prigione A, Szczałuba K, Szybińska A, Koppolu A, Murcia Pienkowski V, Kosińska J, Wiweger M, Kostrzewa G, Brzozowska M, Domańska-Pakieła D, Jurkiewicz E, Stawiński P, Gromadka A, Zielenkiewicz P, Demkow U, Dziembowska M, Kuźnicki J, Creamer TP, Płoski R.
Year
2019
Journal
Eur J Hum Genet.
Volume
27:61-69