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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/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 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
Tremor suppression following treatment with MRgFUS: skull density ratio consistency and degree of posterior dentatorubrothalamic tract lesioning predicts long-term clinical outcomes in essential tremor.
Kyle K, Maller J, Barnett Y, Jonker B, Barnett M, D'Souza A, Calamante F, Maamary J, Peters J, Wang C, Tisch S. Kyle K, et al. Among authors: tisch s. Front Neurol. 2023 Apr 25;14:1129430. doi: 10.3389/fneur.2023.1129430. eCollection 2023. Front Neurol. 2023. PMID: 37181561 Free PMC article.
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
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 Jul;124:107010. doi: 10.1016/j.parkreldis.2024.107010. Epub 2024 May 14. Parkinsonism Relat Disord. 2024. PMID: 38772265 Free article.
87 results