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Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J; Genomics England Research Consortium. Steel D, et al. Among authors: skorvanek m. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683
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
Management of dystonia in Europe: a survey of the European network for the study of the dystonia syndromes.
Valadas A, Contarino MF, Albanese A, Bhatia KP, Falup-Pecurariu C, Forsgren L, Friedman A, Giladi N, Hutchinson M, Kostic VS, Krauss JK, Lokkegaard A, Marti MJ, Milanov I, Pirtosek Z, Relja M, Skorvanek M, Stamelou M, Stepens A, Tamás G, Taravari A, Tzoulis C, Vandenberghe W, Vidailhet M, Ferreira JJ, Tijssen MA. Valadas A, et al. Among authors: skorvanek m. Eur J Neurol. 2016 Apr;23(4):772-9. doi: 10.1111/ene.12940. Epub 2016 Jan 29. Eur J Neurol. 2016. PMID: 26826067
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
Clinical Practice: Evidence-Based Recommendations for the Treatment of Cervical Dystonia with Botulinum Toxin.
Contarino MF, Van Den Dool J, Balash Y, Bhatia K, Giladi N, Koelman JH, Lokkegaard A, Marti MJ, Postma M, Relja M, Skorvanek M, Speelman JD, Zoons E, Ferreira JJ, Vidailhet M, Albanese A, Tijssen MA. Contarino MF, et al. Among authors: skorvanek m. Front Neurol. 2017 Feb 24;8:35. doi: 10.3389/fneur.2017.00035. eCollection 2017. Front Neurol. 2017. PMID: 28286494 Free PMC article. Review.
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.
87 results