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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: bechyne k. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
Zech M, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Wagner M, Dincer Y, Sadr-Nabavi A, Serranová T, Rektorová I, Havránková P, Ganai S, Mosejová A, Příhodová I, Šarláková J, Kulcsarová K, Ulmanová O, Bechyně K, Ostrozovičová M, Haň V, Ventosa JR, Shariati M, Shoeibi A, Weber S, Mollenhauer B, Trenkwalder C, Berutti R, Strom TM, Ceballos-Baumann A, Mall V, Haslinger B, Jech R, Winkelmann J. Zech M, et al. Among authors: bechyne k. Parkinsonism Relat Disord. 2021 Mar;84:129-134. doi: 10.1016/j.parkreldis.2021.02.013. Epub 2021 Feb 12. Parkinsonism Relat Disord. 2021. PMID: 33611074
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
Zech M, Jech R, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Wagner M, Sadr-Nabavi A, Distelmaier F, Krenn M, Serranová T, Rektorová I, Havránková P, Mosejová A, Příhodová I, Šarláková J, Kulcsarová K, Ulmanová O, Bechyně K, Ostrozovičová M, Haň V, Ventosa JR, Brunet T, Berutti R, Shariati M, Shoeibi A, Schneider SA, Kuster A, Baumann M, Weise D, Wilbert F, Janzarik WG, Eckenweiler M, Mall V, Haslinger B, Berweck S, Winkelmann J, Oexle K. Zech M, et al. Among authors: bechyne k. Mov Disord. 2021 Aug;36(8):1959-1964. doi: 10.1002/mds.28614. Epub 2021 May 5. Mov Disord. 2021. PMID: 33949708
Nationwide screening for Fabry disease in unselected stroke patients.
Tomek A, Petra R, Paulasová Schwabová J, Olšerová A, Škorňa M, Nevšímalová M, Šimůnek L, Herzig R, Fafejtová Š, Mikulenka P, Táboříková A, Neumann J, Brzezny R, Sobolová H, Bartoník J, Václavík D, Vachová M, Bechyně K, Havlíková H, Prax T, Šaňák D, Černíková I, Ondečková I, Procházka P, Rajner J, Škoda M, Novák J, Škoda O, Bar M, Mikulík R, Dostálová G, Linhart A; National Stroke Research Network, part of Czech Clinical Research Infrastructure Network (CZECRIN) and Czech Neurological Society, Cerebrovascular Section. Tomek A, et al. Among authors: bechyne k. PLoS One. 2021 Dec 14;16(12):e0260601. doi: 10.1371/journal.pone.0260601. eCollection 2021. PLoS One. 2021. PMID: 34905550 Free PMC article.
Recommendations for cerebrospinal fluid analysis.
Hepnar D, Adam P, Žáková H, Krušina M, Kalvach P, Kasík J, Karpowicz I, Nasler J, Bechyně K, Fiala T, Mamiňák M, Malíková I, Mareš J, Šigut V, Tokár Z, Vránová J. Hepnar D, et al. Among authors: bechyne k. Folia Microbiol (Praha). 2019 May;64(3):443-452. doi: 10.1007/s12223-018-0663-7. Epub 2018 Dec 14. Folia Microbiol (Praha). 2019. PMID: 30552580 Review.