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Page 1
Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant".
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 May;63(5):103900. doi: 10.1016/j.ejmg.2020.103900. Epub 2020 Mar 9. Eur J Med Genet. 2020. PMID: 32165262 No abstract available.
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
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.
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.
334 results