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Page 1
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
α-Synuclein antibody 5G4 identifies manifest and prodromal Parkinson's disease in colonic mucosa.
Skorvanek M, Gelpi E, Mechirova E, Ladomirjakova Z, Han V, Lesko N, Feketeova E, Repkova B, Urbancikova Z, Vargova A, Spisak P, Ribeiro Ventosa J, Kudela F, Kulcsarova K, Babinska S, Toth S, Gombosova L, Zakuciova M, Veseliny E, Trebuna F, Lutz MI, Gdovinova Z, Kovacs GG; PARCAS studygroup. Skorvanek M, et al. Among authors: han v. Mov Disord. 2018 Aug;33(8):1366-1368. doi: 10.1002/mds.27380. Mov Disord. 2018. PMID: 30230627 No abstract available.
Differences in MDS-UPDRS Scores Based on Hoehn and Yahr Stage and Disease Duration.
Skorvanek M, Martinez-Martin P, Kovacs N, Rodriguez-Violante M, Corvol JC, Taba P, Seppi K, Levin O, Schrag A, Foltynie T, Alvarez-Sanchez M, Arakaki T, Aschermann Z, Aviles-Olmos I, 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, Huang J, 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, Tilley BC, Valkovic P, Goetz CG, Stebbins GT. Skorvanek M, et al. Among authors: han v. Mov Disord Clin Pract. 2017 Mar 11;4(4):536-544. doi: 10.1002/mdc3.12476. eCollection 2017 Jul-Aug. Mov Disord Clin Pract. 2017. PMID: 30363418 Free PMC article.
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
334 results