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Dysphagia is a risk factor of malnutrition in X-linked Dystonia-Parkinsonism.
Kao TH, Gochyyev P, Sharma N, de Guzman JK, Supnet Wells M, Acuna P, Li S, Rowe HP, Perry BJ. Kao TH, et al. Among authors: acuna p. Clin Park Relat Disord. 2024 Nov 17;11:100282. doi: 10.1016/j.prdoa.2024.100282. eCollection 2024. Clin Park Relat Disord. 2024. PMID: 39634363 Free PMC article.
Oral diadochokinetic markers of X-linked dystonia-parkinsonism.
Kao TH, Rowe HP, Green JR, Stipancic KL, Sharma N, de Guzman JK, Supnet-Wells ML, Acuna P, Perry BJ. Kao TH, et al. Among authors: acuna p. Parkinsonism Relat Disord. 2024 Mar;120:105991. doi: 10.1016/j.parkreldis.2024.105991. Epub 2024 Jan 4. Parkinsonism Relat Disord. 2024. PMID: 38184995
Voice and swallowing dysfunction in X-linked dystonia parkinsonism.
Song PC, Le H, Acuna P, De Guzman JKP, Sharma N, Francouer TN, Dy ME, Go CL. Song PC, et al. Among authors: acuna p. Laryngoscope. 2020 Jan;130(1):171-177. doi: 10.1002/lary.27897. Epub 2019 Mar 19. Laryngoscope. 2020. PMID: 30889292
TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism.
Al Ali J, Vaine CA, Shah S, Campion L, Hakoum A, Supnet ML, Acuña P, Aldykiewicz G, Multhaupt-Buell T, Ganza NGM, Lagarde JBB, De Guzman JK, Go C, Currall B, Trombetta B, Webb PK, Talkowski M, Arnold SE, Cheah PS, Ito N, Sharma N, Bragg DC, Ozelius L, Breakefield XO. Al Ali J, et al. Among authors: acuna p. Mov Disord. 2021 Jan;36(1):206-215. doi: 10.1002/mds.28305. Epub 2020 Sep 25. Mov Disord. 2021. PMID: 32975318 Free PMC article.
Establishing a natural history of X-linked dystonia parkinsonism.
Acuna P, Supnet-Wells ML, Spencer NA, de Guzman JK, Russo M, Hunt A, Stephen C, Go C, Carr S, Ganza NG, Lagarde JB, Begalan S, Multhaupt-Buell T, Aldykiewicz G, Paul L, Ozelius L, Bragg DC, Perry B, Green JR, Miller JW, Sharma N. Acuna P, et al. Brain Commun. 2023 Apr 4;5(3):fcad106. doi: 10.1093/braincomms/fcad106. eCollection 2023. Brain Commun. 2023. PMID: 37265597 Free PMC article.
Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.
Bragg DC, Mangkalaphiban K, Vaine CA, Kulkarni NJ, Shin D, Yadav R, Dhakal J, Ton ML, Cheng A, Russo CT, Ang M, Acuña P, Go C, Franceour TN, Multhaupt-Buell T, Ito N, Müller U, Hendriks WT, Breakefield XO, Sharma N, Ozelius LJ. Bragg DC, et al. Among authors: acuna p. Proc Natl Acad Sci U S A. 2017 Dec 19;114(51):E11020-E11028. doi: 10.1073/pnas.1712526114. Epub 2017 Dec 11. Proc Natl Acad Sci U S A. 2017. PMID: 29229810 Free PMC article.
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.
Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, Hanscom C, Antolik C, Dy M, Ragavendran A, Underwood J, Cantsilieris S, Munson KM, Eichler EE, Acuña P, Go C, Jamora RDG, Rosales RL, Church DM, Williams SR, Garcia S, Klein C, Müller U, Wilhelmsen KC, Timmers HTM, Sapir Y, Wainger BJ, Henderson D, Ito N, Weisenfeld N, Jaffe D, Sharma N, Breakefield XO, Ozelius LJ, Bragg DC, Talkowski ME. Aneichyk T, et al. Among authors: acuna p. Cell. 2018 Feb 22;172(5):897-909.e21. doi: 10.1016/j.cell.2018.02.011. Cell. 2018. PMID: 29474918 Free PMC article.
58 results