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Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
Klopstock T, Videnovic A, Bischoff AT, Bonnet C, Cif L, Comella C, Correa-Vela M, Escolar ML, Fraser JL, Gonzalez V, Hermanowicz N, Jech R, Jinnah HA, Kmiec T, Lang A, Martí MJ, Mercimek-Andrews S, Monduy M, Nimmo GAM, Perez-Dueñas B, Pfeiffer HCV, Planellas L, Roze E, Thakur N, Tochen L, Vanegas-Arroyave N, Zorzi G, Burns C, Greblikas F. Klopstock T, et al. Among authors: jech r. Mov Disord. 2021 Jun;36(6):1342-1352. doi: 10.1002/mds.28392. Epub 2020 Nov 16. Mov Disord. 2021. PMID: 33200489 Free PMC article. Clinical Trial.
KMT2B rare missense variants in generalized dystonia.
Zech M, Jech R, Havránková P, Fečíková A, Berutti R, Urgošík D, Kemlink D, Strom TM, Roth J, Růžička E, Winkelmann J. Zech M, et al. Among authors: jech r. Mov Disord. 2017 Jul;32(7):1087-1091. doi: 10.1002/mds.27026. Epub 2017 May 18. Mov Disord. 2017. PMID: 28520167
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: jech r. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
Zech M, Jech R, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Wagner M, Sadr-Nabavi A, Distelmaier F, Krenn M, Serranová T, Rektorová I, Havránková P, Mosejová A, Příhodová I, Šarláková J, Kulcsarová K, Ulmanová O, Bechyně K, Ostrozovičová M, Haň V, Ventosa JR, Brunet T, Berutti R, Shariati M, Shoeibi A, Schneider SA, Kuster A, Baumann M, Weise D, Wilbert F, Janzarik WG, Eckenweiler M, Mall V, Haslinger B, Berweck S, Winkelmann J, Oexle K. Zech M, et al. Among authors: jech r. Mov Disord. 2021 Aug;36(8):1959-1964. doi: 10.1002/mds.28614. Epub 2021 May 5. Mov Disord. 2021. PMID: 33949708
207 results