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Page 1
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: multhaupt buell t. Nat Commun. 2021 May 28;12(1):3216. doi: 10.1038/s41467-021-23491-4. Nat Commun. 2021. PMID: 34050153 Free PMC article.
Pallidal deep brain stimulation for dystonia: a case series.
Petrossian MT, Paul LR, Multhaupt-Buell TJ, Eckhardt C, Hayes MT, Duhaime AC, Eskandar EN, Sharma N. Petrossian MT, et al. J Neurosurg Pediatr. 2013 Dec;12(6):582-7. doi: 10.3171/2013.8.PEDS13134. Epub 2013 Oct 4. J Neurosurg Pediatr. 2013. PMID: 24093589 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.
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.
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.
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