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Page 1
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: svantnerova j. 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: svantnerova j. 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: svantnerova j. Mov Disord. 2021 Aug;36(8):1959-1964. doi: 10.1002/mds.28614. Epub 2021 May 5. Mov Disord. 2021. PMID: 33949708
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.
Dzinovic I, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Pavelekova P, Havránková P, Tsoma E, Indelicato E, Runkel E, Held V, Weise D, Janzarik W, Eckenweiler M, Berweck S, Mall V, Haslinger B, Jech R, Winkelmann J, Zech M. Dzinovic I, et al. Among authors: svantnerova j. Parkinsonism Relat Disord. 2022 Sep;102:1-6. doi: 10.1016/j.parkreldis.2022.07.003. Epub 2022 Jul 18. Parkinsonism Relat Disord. 2022. PMID: 35872528
Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.
Dzinovic I, Škorvánek M, Necpál J, Boesch S, Švantnerová J, Wagner M, Havránková P, Pavelekova P, Haň V, Janzarik WG, Berweck S, Diebold I, Kuster A, Jech R, Winkelmann J, Zech M. Dzinovic I, et al. Among authors: svantnerova j. Parkinsonism Relat Disord. 2021 Sep;90:73-78. doi: 10.1016/j.parkreldis.2021.08.007. Epub 2021 Aug 11. Parkinsonism Relat Disord. 2021. PMID: 34399161
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Stadheim BF, Sullivan JA, Švantnerová J, Velsher L, Wargowski DS, Wentzensen IM, Wieczorek D, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Distelmaier F, Wagner M. Brunet T, et al. Among authors: svantnerova j. Genet Med. 2021 Feb;23(2):384-395. doi: 10.1038/s41436-020-00993-y. Epub 2020 Nov 11. Genet Med. 2021. PMID: 33173220 Free PMC article.
Language impairment in Parkinson's disease: fMRI study of sentence reading comprehension.
Novakova L, Gajdos M, Markova J, Martinkovicova A, Kosutzka Z, Svantnerova J, Valkovic P, Csefalvay Z, Rektorova I. Novakova L, et al. Among authors: svantnerova j. Front Aging Neurosci. 2023 Mar 9;15:1117473. doi: 10.3389/fnagi.2023.1117473. eCollection 2023. Front Aging Neurosci. 2023. PMID: 36967818 Free PMC article.
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