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Page 1
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
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.
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
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
Laabs BH, Klein C, Pozojevic J, Domingo A, Brüggemann N, Grütz K, Rosales RL, Jamora RD, Saranza G, Diesta CCE, Wittig M, Schaake S, Dulovic-Mahlow M, Quismundo J, Otto P, Acuna P, Go C, Sharma N, Multhaupt-Buell T, Müller U, Hanssen H, Kilpert F, Franke A, Rolfs A, Bauer P, Dobričić V, Lohmann K, Ozelius LJ, Kaiser FJ, König IR, Westenberger A. Laabs BH, et al. Among authors: acuna p. Nat Commun. 2021 May 28;12(1):3216. doi: 10.1038/s41467-021-23491-4. Nat Commun. 2021. PMID: 34050153 Free PMC article.
Isolated Cervical Dystonia: Management and Barriers to Care.
Supnet ML, Acuna P, Carr SJ, Kristoper de Guzman J, Al Qahtani X, Multhaupt-Buell T, Francoeur T, Aldykiewicz GE, Alluri PR, Campion L, Paul L, Ozelius L, Penney EB, Stephen CD, Dy-Hollins M, Sharma N. Supnet ML, et al. Among authors: acuna p. Front Neurol. 2020 Nov 27;11:591418. doi: 10.3389/fneur.2020.591418. eCollection 2020. Front Neurol. 2020. PMID: 33329340 Free PMC article.
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
Campion LN, Mejia Maza A, Yadav R, Penney EB, Murcar MG, Correia K, Gillis T, Fernandez-Cerado C, Velasco-Andrada MS, Legarda GP, Ganza-Bautista NG, Lagarde JBB, Acuña PJ, Multhaupt-Buell T, Aldykiewicz G, Supnet ML, De Guzman JK, Go C, Sharma N, Munoz EL, Ang MC, Diesta CCE, Bragg DC, Ozelius LJ, Wheeler VC. Campion LN, et al. Among authors: acuna pj. Acta Neuropathol Commun. 2022 Apr 8;10(1):49. doi: 10.1186/s40478-022-01349-0. Acta Neuropathol Commun. 2022. PMID: 35395816 Free PMC article.
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.
Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
Campion LN, Mejia Maza A, Yadav R, Penney EB, Murcar MG, Correia K, Gillis T, Fernandez-Cerado C, Velasco-Andrada MS, Legarda GP, Ganza-Bautista NG, Lagarde JBB, Acuña PJ, Multhaupt-Buell T, Aldykiewicz G, Supnet ML, De Guzman JK, Go C, Sharma N, Munoz EL, Ang MC, Diesta CCE, Bragg DC, Ozelius LJ, Wheeler VC. Campion LN, et al. Among authors: acuna pj. Acta Neuropathol Commun. 2022 Apr 25;10(1):62. doi: 10.1186/s40478-022-01367-y. Acta Neuropathol Commun. 2022. PMID: 35468867 Free PMC article. No abstract available.
SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene.
Petrozziello T, Dios AM, Mueller KA, Vaine CA, Hendriks WT, Glajch KE, Mills AN, Mangkalaphiban K, Penney EB, Ito N, Fernandez-Cerado C, Legarda GPA, Velasco-Andrada MS, Acuña PJ, Ang MA, Muñoz EL, Diesta CCE, Macalintal-Canlas R, Acuña G, Sharma N, Ozelius LJ, Bragg DC, Sadri-Vakili G. Petrozziello T, et al. Among authors: acuna pj. PLoS One. 2020 Dec 14;15(12):e0243655. doi: 10.1371/journal.pone.0243655. eCollection 2020. PLoS One. 2020. PMID: 33315879 Free PMC article.
16 results