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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: van egmond me. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683
A novel diagnostic approach to patients with myoclonus.
Zutt R, van Egmond ME, Elting JW, van Laar PJ, Brouwer OF, Sival DA, Kremer HP, de Koning TJ, Tijssen MA. Zutt R, et al. Among authors: van laar pj, van egmond me. Nat Rev Neurol. 2015 Dec;11(12):687-97. doi: 10.1038/nrneurol.2015.198. Epub 2015 Nov 10. Nat Rev Neurol. 2015. PMID: 26553594 Review.
A post hoc study on gene panel analysis for the diagnosis of dystonia.
van Egmond ME, Lugtenberg CHA, Brouwer OF, Contarino MF, Fung VSC, Heiner-Fokkema MR, van Hilten JJ, van der Hout AH, Peall KJ, Sinke RJ, Roze E, Verschuuren-Bemelmans CC, Willemsen MA, Wolf NI, Tijssen MA, de Koning TJ. van Egmond ME, et al. Among authors: van der hout ah, van hilten jj. Mov Disord. 2017 Apr;32(4):569-575. doi: 10.1002/mds.26937. Epub 2017 Feb 10. Mov Disord. 2017. PMID: 28186668 Free article.
Non-motor effects of deep brain stimulation in dystonia: A systematic review.
Eggink H, Szlufik S, Coenen MA, van Egmond ME, Moro E, Tijssen MAJ. Eggink H, et al. Among authors: van egmond me. Parkinsonism Relat Disord. 2018 Oct;55:26-44. doi: 10.1016/j.parkreldis.2018.06.024. Epub 2018 Jun 20. Parkinsonism Relat Disord. 2018. PMID: 29945825 Review.
Toward adaptive deep brain stimulation for dystonia.
Piña-Fuentes D, Beudel M, Little S, van Zijl J, Elting JW, Oterdoom DLM, van Egmond ME, van Dijk JMC, Tijssen MAJ. Piña-Fuentes D, et al. Among authors: van zijl j, van egmond me, van dijk jmc. Neurosurg Focus. 2018 Aug;45(2):E3. doi: 10.3171/2018.5.FOCUS18155. Neurosurg Focus. 2018. PMID: 30064317 Review.
40 results