Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

Michael Zech(Helmholtz Zentrum München), Ivan Milenković(Medical University of Vienna), Melanie Brügger(Technical University of Munich), Riccardo Berutti(Helmholtz Zentrum München), Isabel Colangelo(Fondazione IRCCS Istituto Neurologico Carlo Besta), Thomas Meitinger(Helmholtz Zentrum München), Boris Keren(Sorbonne Université), Eugenia Tsoma(Uzhhorod National University), Janette Baloghová(University of Pavol Jozef Šafárik), Theresa Brunet(Helmholtz Zentrum München), Petra Havránková(Charles University), Miriam Adamovičová(Thomayer University Hospital), Barbara Garavaglia, Chen Zhao(North Sichuan Medical University), Matthias Eckenweiler(University of Freiburg), Oliver Maier(University of St.Gallen), Magdalena Krygier(Gdańsk Medical University), Konstantinos Kolokotronis, Anne Koy(University of Cologne), Elisabetta Indelicato(Innsbruck Medical University), Volker Kittke(Helmholtz Zentrum München), Miriam Kolníková(University Hospital Bratislava), Philip Harrer(Helmholtz Munich), Elisabeth Graf(Helmholtz Zentrum München), Erin Conboy(Indiana University – Purdue University Indianapolis), Wibke G. Janzarik(University of Freiburg), Erik Tilch(Helmholtz Munich), Arie Geerlof(Center for Integrated Protein Science Munich), Annette Hackenberg(University of Zurich), Christian Mertes(Technical University of Munich), Birgit Assmann(Düsseldorf University Hospital), Lucia Abela(Great Ormond Street Hospital), Katarína Kušíková(University Hospital Bratislava), Bernhard Haslinger(TUM Klinikum), Ján Necpál(Technická univerzita vo Zvolene), Ivana Dzinovic(Helmholtz Munich), Martin Krenn(Technical University of Munich), Ugo Sorrentino(University of Padua), Zuzana Košutzká(University Hospital Bratislava), Robert Kopajtich(Helmholtz Zentrum München), Matěj Škorvánek(University of Pavol Jozef Šafárik), Georg F. Hoffmann(Heidelberg University), Benjamin Cogné(Centre National de la Recherche Scientifique), Alice Saparov(Helmholtz Munich), Alexandra Afenjar(Sorbonne Université), A. Stehr(Technical University of Munich), Denisa Harvanová(University of Pavol Jozef Šafárik), Zuzana Brežná(Technická univerzita vo Zvolene), Matthias Baumann(Innsbruck Medical University)
Brain
February 12, 2025
Cited by 27


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