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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: havrankova p. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.
DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.
Jech R, Bareš M, Křepelová A, Urgošík D, Havránková P, Růžička E. Jech R, et al. Among authors: havrankova p. Mov Disord. 2011 Apr;26(5):924-5. doi: 10.1002/mds.23599. Epub 2011 Mar 21. Mov Disord. 2011. PMID: 21425341 No abstract available.
The subthalamic microlesion story in Parkinson's disease: electrode insertion-related motor improvement with relative cortico-subcortical hypoactivation in fMRI.
Jech R, Mueller K, Urgošík D, Sieger T, Holiga Š, Růžička F, Dušek P, Havránková P, Vymazal J, Růžička E. Jech R, et al. Among authors: havrankova p. PLoS One. 2012;7(11):e49056. doi: 10.1371/journal.pone.0049056. Epub 2012 Nov 7. PLoS One. 2012. PMID: 23145068 Free PMC article. Clinical Trial.
KMT2B rare missense variants in generalized dystonia.
Zech M, Jech R, Havránková P, Fečíková A, Berutti R, Urgošík D, Kemlink D, Strom TM, Roth J, Růžička E, Winkelmann J. Zech M, et al. Among authors: havrankova p. Mov Disord. 2017 Jul;32(7):1087-1091. doi: 10.1002/mds.27026. Epub 2017 May 18. Mov Disord. 2017. PMID: 28520167
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
Zech M, Jech R, Wagner M, Mantel T, Boesch S, Nocker M, Jochim A, Berutti R, Havránková P, Fečíková A, Kemlink D, Roth J, Strom TM, Poewe W, Růžička E, Haslinger B, Winkelmann J. Zech M, et al. Among authors: havrankova p. Neurogenetics. 2017 Dec;18(4):195-205. doi: 10.1007/s10048-017-0521-9. Epub 2017 Aug 28. Neurogenetics. 2017. PMID: 28849312
33 results