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Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Bauman… See abstract for full author list ➔ Zech M, et al. Among authors: meindl t. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.
Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls.
Zech M, Jochim A, Boesch S, Weber S, Meindl T, Peters A, Gieger C, Mueller J, Messner M, Ceballos-Baumann A, Poewe W, Haslinger B, Winkelmann J. Zech M, et al. Among authors: meindl t. Parkinsonism Relat Disord. 2016 Oct;31:119-123. doi: 10.1016/j.parkreldis.2016.07.013. Epub 2016 Jul 25. Parkinsonism Relat Disord. 2016. PMID: 27477622
Abnormalities in grey matter structure in embouchure dystonia.
Mantel T, Altenmüller E, Li Y, Meindl T, Jochim A, Lee A, Zimmer C, Dresel C, Haslinger B. Mantel T, et al. Among authors: meindl t. Parkinsonism Relat Disord. 2019 Aug;65:111-116. doi: 10.1016/j.parkreldis.2019.05.008. Epub 2019 May 7. Parkinsonism Relat Disord. 2019. PMID: 31147222
115 results