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Genome sequencing reanalysis increases the diagnostic yield in dystonia.
Fellner A, Wali GM, Mahant N, Grosz BR, Ellis M, Narayanan RK, Ng K, Davis RL, Tchan MC, Kotschet K, Yeow D, Rudaks LI, Siow SF, Wali G, Yiannikas C, Hobbs M, Copty J, Geaghan M, Darveniza P, Liang C, Williams LJ, Chang FCF, Morales-Briceño H, Tisch S, Hayes M, Whyte S, Kummerfeld S, Kennerson ML, Cowley MJ, Fung VSC, Sue CM, Kumar KR. Fellner A, et al. Among authors: tisch s. Parkinsonism Relat Disord. 2024 May 14;124:107010. doi: 10.1016/j.parkreldis.2024.107010. Online ahead of print. Parkinsonism Relat Disord. 2024. PMID: 38772265
Outcomes of Focused Ultrasound Thalamotomy in Tremor Syndromes.
Peters J, Maamary J, Kyle K, Olsen N, Jones L, Bolitho S, Barnett Y, Jonker B, Tisch S. Peters J, et al. Among authors: tisch s. Mov Disord. 2024 Jan;39(1):173-182. doi: 10.1002/mds.29658. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964429
Consistency is key: influence of skull density ratio distribution on the formation of clinically effective lesions and long-term tremor suppression following treatment with MR-guided focused ultrasound.
Kyle K, Maamary J, Jonker B, Peters J, Barnett Y, Barnett M, D'Souza A, Maller J, Wang C, Tisch S. Kyle K, et al. Among authors: tisch s. J Neurosurg. 2023 Sep 1;140(3):648-656. doi: 10.3171/2023.6.JNS231153. Print 2024 Mar 1. J Neurosurg. 2023. PMID: 37657096
Wilson Disease: A Case Report of Psychosis Preceding Parkinsonism.
Dunkerton S, Clarke AJ, Thompson EO, Xie P, Tisch S, Worthington JM, Azadi A, Halmagyi GM. Dunkerton S, et al. Among authors: tisch s. Am J Case Rep. 2023 Aug 16;24:e940561. doi: 10.12659/AJCR.940561. Am J Case Rep. 2023. PMID: 37583127 Free PMC article.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: tisch s. Am J Hum Genet. 2023 Jun 1;110(6):1018. doi: 10.1016/j.ajhg.2023.05.005. Am J Hum Genet. 2023. PMID: 37267898 Free PMC article. No abstract available.
86 results