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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. Cell. 2018 Feb 22;172(5):897-909.e21. doi: 10.1016/j.cell.2018.02.011. Cell. 2018. PMID: 29474918 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. 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.
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: multhaupt buell t. 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.
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: multhaupt buell t. Front Neurol. 2020 Nov 27;11:591418. doi: 10.3389/fneur.2020.591418. eCollection 2020. Front Neurol. 2020. PMID: 33329340 Free PMC article.
The dystonia gene THAP1 controls DNA double-strand break repair choice.
Shinoda K, Zong D, Callen E, Wu W, Dumitrache LC, Belinky F, Chari R, Wong N, Ishikawa M, Stanlie A, Multhaupt-Buell T, Sharma N, Ozelius L, Ehrlich M, McKinnon PJ, Nussenzweig A. Shinoda K, et al. Among authors: multhaupt buell t. Mol Cell. 2021 Jun 17;81(12):2611-2624.e10. doi: 10.1016/j.molcel.2021.03.034. Epub 2021 Apr 14. Mol Cell. 2021. PMID: 33857404 Free PMC article.
21 results