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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: han v. 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
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Olgiati S, Skorvanek M, Quadri M, Minneboo M, Graafland J, Breedveld GJ, Bonte R, Ozgur Z, van den Hout MC, Schoonderwoerd K, Verheijen FW, van IJcken WF, Chien HF, Barbosa ER, Chang HC, Lai SC, Yeh TH, Lu CS, Wu-Chou YH, Kievit AJ, Han V, Gdovinova Z, Jech R, Hofstra RM, Ruijter GJ, Mandemakers W, Bonifati V. Olgiati S, et al. Among authors: han v. Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19. Mov Disord. 2016. PMID: 27090768
Prevalence of Prodromal Parkinson's Disease as Defined by MDS Research Criteria among Elderly Patients Undergoing Colonoscopy.
Skorvanek M, Ladomirjakova Z, Han V, Lesko N, Feketeova E, Jarcuskova D, Repkova B, Spisak P, Urbancikova Z, Vargova A, Gombosova L, Zakuciova M, Veseliny E, Trebuna F, Mechirova E, Gdovinova Z. Skorvanek M, et al. Among authors: han v. J Parkinsons Dis. 2017;7(3):481-489. doi: 10.3233/JPD-161036. J Parkinsons Dis. 2017. PMID: 28387681
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: han v. 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
Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?
Skorvanek M, Dusek P, Rydzanicz M, Walczak A, Kosinska J, Kostrzewa G, Brzozowska M, Han V, Dosekova P, Gdovinova Z, Lehotska Z, Lisowski P, Ploski R. Skorvanek M, et al. Among authors: han v. Parkinsonism Relat Disord. 2019 May;62:239-241. doi: 10.1016/j.parkreldis.2019.01.017. Epub 2019 Jan 24. Parkinsonism Relat Disord. 2019. PMID: 30733140 No abstract available.
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Khan K, Zech M, Morgan AT, Amor DJ, Skorvanek M, Khan TN, Hildebrand MS, Jackson VE, Scerri TS, Coleman M, Rigbye KA, Scheffer IE, Bahlo M, Wagner M, Lam DD, Berutti R, Havránková P, Fečíková A, Strom TM, Han V, Dosekova P, Gdovinova Z, Laccone F, Jameel M, Mooney MR, Baig SM, Jech R, Davis EE, Katsanis N, Winkelmann J. Khan K, et al. Among authors: han v. Genet Med. 2019 Nov;21(11):2532-2542. doi: 10.1038/s41436-019-0523-0. Epub 2019 Apr 30. Genet Med. 2019. PMID: 31036918 Free PMC article.
Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.
Dosekova P, Dubiel A, Karlowicz A, Zietkiewicz S, Rydzanicz M, Habalova V, Pienkowski VM, Skirkova M, Han V, Mosejova A, Gdovinova Z, Kaliszewska M, Tońska K, Szymanski MR, Skorvanek M, Ploski R. Dosekova P, et al. Among authors: han v. Eur J Med Genet. 2020 Apr;63(4):103821. doi: 10.1016/j.ejmg.2019.103821. Epub 2019 Nov 26. Eur J Med Genet. 2020. PMID: 31778857
324 results