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Page 1
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T, Jech R, Brugger M, Kovacs R, Alhaddad B, Leszinski G, Riedhammer KM, Westphal DS, Mahle I, Mayerhanser K, Skorvanek M, Weber S, Graf E, Berutti R, Necpál J, Havránková P, Pavelekova P, Hempel M, Kotzaeridou U, Hoffmann GF, Leiz S, Makowski C, Roser T, Schroeder SA, Steinfeld R, Strobl-Wildemann G, Hoefele J, Borggraefe I, Distelmaier F, Strom TM, Winkelmann J, Meitinger T, Zech M, Wagner M. Brunet T, et al. Among authors: pavelekova p. Clin Genet. 2021 Jul;100(1):14-28. doi: 10.1111/cge.13946. Epub 2021 Mar 1. Clin Genet. 2021. PMID: 33619735
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: pavelekova 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.
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: pavelekova p. 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
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.
Skorvanek M, Rektorova I, Mandemakers W, Wagner M, Steinfeld R, Orec L, Han V, Pavelekova P, Lackova A, Kulcsarova K, Ostrozovicova M, Gdovinova Z, Plecko B, Brunet T, Berutti R, Kuipers DJS, Boumeester V, Havrankova P, Tijssen MAJ, Kaiyrzhanov R, Rizig M, Houlden H, Winkelmann J, Bonifati V, Zech M, Jech R. Skorvanek M, et al. Among authors: pavelekova p. Parkinsonism Relat Disord. 2022 Jan;94:54-61. doi: 10.1016/j.parkreldis.2021.11.030. Epub 2021 Dec 2. Parkinsonism Relat Disord. 2022. PMID: 34890876
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: pavelekova p. 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
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.
Ostrozovicova M, Jech R, Steel D, Pavelekova P, Han V, Gdovinova Z, Lichtner P, Kurian MA, Wiethoff S, Houlden H, Havránková P, Winkelmann J, Zech M, Skorvanek M. Ostrozovicova M, et al. Among authors: pavelekova p. Mov Disord. 2021 Aug;36(8):1984-1985. doi: 10.1002/mds.28647. Epub 2021 May 17. Mov Disord. 2021. PMID: 33998058 No abstract available.
Atypical presentations of DYT1 dystonia with acute craniocervical onset.
Pavelekova P, Jech R, Zech M, Krepelova A, Han V, Mosejova A, Liba Z, Urgosik D, Gdovinova Z, Havrankova P, Fecikova A, Winkelmann J, Skorvanek M. Pavelekova P, et al. Parkinsonism Relat Disord. 2021 Feb;83:54-55. doi: 10.1016/j.parkreldis.2020.12.019. Epub 2021 Jan 13. Parkinsonism Relat Disord. 2021. PMID: 33476878
Prevalence of Fabry Disease among Patients with Parkinson's Disease.
Lackova A, Beetz C, Oppermann S, Bauer P, Pavelekova P, Lorincova T, Ostrozovicova M, Kulcsarova K, Cobejova J, Cobej M, Levicka P, Liesenerova S, Sendekova D, Sukovska V, Gdovinova Z, Han V, Rizig M, Houlden H, Skorvanek M. Lackova A, et al. Among authors: pavelekova p. Parkinsons Dis. 2022 Jan 24;2022:1014950. doi: 10.1155/2022/1014950. eCollection 2022. Parkinsons Dis. 2022. PMID: 35111290 Free PMC article.