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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: minar m. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.
LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study.
Skorvanek M, Rizig M, Athanasiou-Fragkouli A, Necpal J, Straka I, Tamas G, Kurca E, Mosejova A, Han V, Lorincova T, Ostrozovicova M, Liesenerova S, Levicka P, Fajcikova L, Minar M, Valkovic P, Mákos O, Kelemen A, Grofik M, Cibulka M, Jama F, Houlden H; members of the CEGEMOD study group. Skorvanek M, et al. Among authors: minar m. Parkinsonism Relat Disord. 2021 Feb;83:110-112. doi: 10.1016/j.parkreldis.2020.12.021. Epub 2021 Jan 11. Parkinsonism Relat Disord. 2021. PMID: 33561776 No abstract available.
Relationship between the MDS-UPDRS and Quality of Life: A large multicenter study of 3206 patients.
Skorvanek M, Martinez-Martin P, Kovacs N, Zezula I, Rodriguez-Violante M, Corvol JC, Taba P, Seppi K, Levin O, Schrag A, Aviles-Olmos I, Alvarez-Sanchez M, Arakaki T, Aschermann Z, Benchetrit E, Benoit C, Bergareche-Yarza A, Cervantes-Arriaga A, Chade A, Cormier F, Datieva V, Gallagher DA, Garretto N, Gdovinova Z, Gershanik O, Grofik M, Han V, Kadastik-Eerme L, Kurtis MM, Mangone G, Martinez-Castrillo JC, Mendoza-Rodriguez A, Minar M, Moore HP, Muldmaa M, Mueller C, Pinter B, Poewe W, Rallmann K, Reiter E, Rodriguez-Blazquez C, Singer C, Valkovic P, Goetz CG, Stebbins GT. Skorvanek M, et al. Among authors: minar m. Parkinsonism Relat Disord. 2018 Jul;52:83-89. doi: 10.1016/j.parkreldis.2018.03.027. Epub 2018 Mar 28. Parkinsonism Relat Disord. 2018. PMID: 29625875
40 results