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The MAPT p.E342K and p.R406W mutations are associated with progressive supranuclear palsy with atypical features.
Badihian N, Ali F, Botha H, Savica R, Machulda MM, Clark HM, Stierwalt JAG, Pham NTT, Baker MC, Rademakers R, Lowe V, Whitwell JL, Josephs KA. Badihian N, et al. Among authors: stierwalt jag. Parkinsonism Relat Disord. 2024 Feb;119:105962. doi: 10.1016/j.parkreldis.2023.105962. Epub 2023 Dec 17. Parkinsonism Relat Disord. 2024. PMID: 38134678
Rate Modulation Abilities in Acquired Motor Speech Disorders.
Utianski RL, Duffy JR, Martin PR, Clark HM, Stierwalt JAG, Botha H, Ali F, Whitwell JL, Josephs KA. Utianski RL, et al. Among authors: stierwalt jag. J Speech Lang Hear Res. 2023 Aug 17;66(8S):3194-3205. doi: 10.1044/2022_JSLHR-22-00286. Epub 2023 Feb 13. J Speech Lang Hear Res. 2023. PMID: 36780318 Free PMC article.
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2: Case Report.
Blazek AM, Meade G, Jackson LM, Gavrilova R, Stierwalt J, Martinez-Thompson JM, Duffy JR, Clark H, Machulda MM, Whitwell JL, Josephs KA, Utianski RL, Botha H. Blazek AM, et al. Neurol Genet. 2024 Nov 1;10(6):e200202. doi: 10.1212/NXG.0000000000200202. eCollection 2024 Dec. Neurol Genet. 2024. PMID: 39512795 Free PMC article.
Speech-induced action myoclonus.
Simpson HD, Duffy JR, Stierwalt JAG, Ahlskog JE, Hassan A. Simpson HD, et al. Among authors: stierwalt jag. Parkinsonism Relat Disord. 2022 May;98:41-46. doi: 10.1016/j.parkreldis.2022.04.002. Epub 2022 Apr 14. Parkinsonism Relat Disord. 2022. PMID: 35468498 Review.
30 results