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Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch.
Dzinovic I, Graf E, Brugger M, Berutti R, Příhodová I, Blaschek A, Winkelmann J, Jech R, Vill K, Zech M. Dzinovic I, et al. Among authors: prihodova i. Mov Disord Clin Pract. 2023 Jun 20;10(7):1159-1161. doi: 10.1002/mdc3.13793. eCollection 2023 Jul. Mov Disord Clin Pract. 2023. PMID: 37476319 Free PMC article. No abstract available.
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: prihodova i. 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: prihodova i. 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: prihodova i. Mov Disord. 2021 Aug;36(8):1959-1964. doi: 10.1002/mds.28614. Epub 2021 May 5. Mov Disord. 2021. PMID: 33949708
Deep brain stimulation in acute management of status dystonicus.
Jech R, Bares M, Urgosík D, Cerná O, Klement P, Adamovicová M, Růzicka E, Príhodová I, Oslejsková H. Jech R, et al. Among authors: prihodova i. Mov Disord. 2009 Nov 15;24(15):2291-2. doi: 10.1002/mds.22764. Mov Disord. 2009. PMID: 19750494 No abstract available.
Idiopathic hypersomnia years after the diagnosis.
Šonka K, Feketeová E, Nevšímalová S, Horvat EM, Příhodová I, Dostálová S, Galušková K, Milata M, Bušková J, Susta M. Šonka K, et al. Among authors: prihodova i. J Sleep Res. 2024 Apr;33(2):e14011. doi: 10.1111/jsr.14011. Epub 2023 Aug 12. J Sleep Res. 2024. PMID: 37572055
Fragmentary myoclonus in idiopathic rapid eye movement sleep behaviour disorder.
Nepozitek J, Dostalova S, Kemlink D, Friedrich L, Prihodova I, Ibarburu Lorenzo Y Losada V, Dusek P, Bezdicek O, Nikolai T, Perinova P, Dall'Antonia I, Dusek P, Ruml M, Ruzicka E, Sonka K. Nepozitek J, et al. Among authors: prihodova i. J Sleep Res. 2019 Aug;28(4):e12819. doi: 10.1111/jsr.12819. Epub 2019 Jan 24. J Sleep Res. 2019. PMID: 30676675
33 results