Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M, Dzinovic I, Skorvanek M, Harrer P, Necpal J, Kopajtich R, Kittke V, Tilch E, Zhao C, Tsoma E, Sorrentino U, Indelicato E, Stehr A, Saparov A, Abela L, Adamovicova M, Afenjar A, Assmann B, Baloghova J, Baumann M, Berutti R, Brezna Z, Brugger M, Brunet T, Cogne B, Colangelo I, Conboy E, Distelmaier F, Eckenweiler M, Garavaglia B, Geerlof A, Graf E, Hackenberg A, Harvanova D, Haslinger B, Havrankova P, Hoffmann GF, Janzarik WG, Keren B, Kolnikova M, Kolokotronis K, Kosutzka Z, Koy A, Krenn M, Krygier M, Kusikova K, Maier O, Meitinger T, Mertes C, Milenkovic I, Monfrini E, Santos Dias Mourao A, Musacchio T, Nizon M, Ostrozovicova M, Pavlov M, Prihodova I, Rektorova I, Romito LM, Rybanska B, Sadr-Nabavi A, Schwenger S, Shoeibi A, Sitzberger A, Smirnov D, Svantnerova J, Tautanova R, Toelle SP, Ulmanova O, Vetrini F, Vill K, Wagner M, Weise D, Zorzi G, Di Fonzo A, Oexle K, Berweck S, Mall V, Boesch S, Schormair B, Prokisch H, Jech R, Winkelmann J.
Zech M, et al.
Brain. 2025 Aug 1;148(8):2827-2846. doi: 10.1093/brain/awaf059.
Brain. 2025.
PMID: 39937650
Free PMC article.
