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Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, Boesch S, Škorvánek M, Necpál J, Weise D, Weber S, Mollenhauer B, Trenkwalder C, Maier EM, Borggraefe I, Vill K, Hackenberg A, Pilshofer V, Kotzaeridou U, Schwaibold EMC, Hoefele J, Waldenberger M, Gieger C, Peters A, Meitinger T, Schormair B, Winkelmann J, Oexle K. Mirza-Schreiber N, et al. Among authors: skorvanek m. Brain. 2022 Apr 18;145(2):644-654. doi: 10.1093/brain/awab360. Brain. 2022. PMID: 34590685
Endoscopic Complications Are More Frequent in Levodopa-Carbidopa Intestinal Gel Treatment via JET-PEG in Parkinson's Disease Patients Compared to Nutritional PEG in Non-Parkinson's Disease Patients.
Gombošová L, Deptová J, Jochmanová I, Svoreňová T, Veseliny E, Zakuciová M, Haň V, Lacková A, Kulcsárová K, Ostrožovičová M, Ventosa JR, Trcková L, Lazúrová I, Škorvánek M. Gombošová L, et al. Among authors: skorvanek m. J Clin Med. 2024 Jan 25;13(3):703. doi: 10.3390/jcm13030703. J Clin Med. 2024. PMID: 38337398 Free PMC article.
α-synuclein antibody 5G4 identifies idiopathic REM-sleep behavior disorder in abdominal skin biopsies.
Tóth Š, Kulcsárová K, Maretta M, Kunová A, Mechírová E, Gdovinová Z, Feketeová E, Ribeiro Ventosa J, Baloghová J, Bekeová M, Christová P, Mrázová S, Muránska S, Zeidan D, Škorvánek M. Tóth Š, et al. Among authors: skorvanek m. Parkinsonism Relat Disord. 2024 Mar;120:105956. doi: 10.1016/j.parkreldis.2023.105956. Epub 2023 Dec 9. Parkinsonism Relat Disord. 2024. PMID: 38217955
Rating Scales for Medication Adherence in Parkinson's Disease: A Systematic Review for Critique and Recommendations.
Tosin MHS, de Oliveira BGRB, Goetz CG, Morisky D, McConvey V, Skorvanek M, Schrag A, Martinez-Martin P, Stebbins GT; members of the International Parkinson and Movement Disorder Society Clinical Outcome Assessments (MDS‐COA) Scientific Evaluation Committee. Tosin MHS, et al. Among authors: skorvanek m. Mov Disord Clin Pract. 2022 Oct 17;10(2):175-189. doi: 10.1002/mdc3.13586. eCollection 2023 Feb. Mov Disord Clin Pract. 2022. PMID: 36825050 Free PMC article. Review.
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: skorvanek m. Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19. Mov Disord. 2016. PMID: 27090768
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: skorvanek m. 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.
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J. Zech M, et al. Among authors: skorvanek m. Parkinsonism Relat Disord. 2020 Aug;77:70-75. doi: 10.1016/j.parkreldis.2020.06.027. Epub 2020 Jun 29. Parkinsonism Relat Disord. 2020. PMID: 32629324
88 results