Publications from Funded Projects
- Bragg DC, Sharma N, Ozelius LJ X-Linked Dystonia-Parkinsonism: Recent Advances. Curr Opin Neurol. 2019 Aug;32(4):604-609
- Kleinstiver BP, Sousa AA, Walton RT, Tak YE, Hsu JY, Clement K, Welch MM, Horng JE, Malagon-Lopez J, Scarfò I, Maus MV, Pinello L, Aryee MJ, Joung JK. Engineered CRISPR-Cas12a variants with increased activities and improved targeting ranges for gene, epigenetic and base editing Nat Biotechnol. 2019 Mar;37(3):276-282.
- Song PC, Le H, Acuna P et al. Voice and swallowing dysfunction in X-linked Dystonia Parkinsonism. Laryngoscope 2019 Jan;130(1):171-177
- Westenberger A, Reyes CJ, Saranza G et al. A hexanucleotide repeat modifies expressivity of X-linked dystonia-parkinsonism. Ann Neurol 2019 Jun;85(6):812-822.
- Aneichyk T, Hendriks WT, Yadav R et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 2018; 172: 897-909 e821.
- Rakovic A, Domingo A, Grutz K et al. Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism. Mov Disord 2018; 33:1108-1118.
- Capetian P, Stanslowsky, N, Bernhardi, E. et al. Altered glutamate response and calcium dynamics in iPSC-derived striatal neurons from XDP patients. 2018 Exp Neurol Oct;308:47-58.
- Bragg DC, Mangkalaphiban K, Vaine CA et al. Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA
- Ito N, Hendriks WT, Dhakal J et al. Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells. Dis Model Mech 2016; 9:451-462.
- Crittenden JR, Tillberg PW, Riad MH, et al. Striosome-dendron bouquets highlight a unique striatonigral circuit targeting dopamine-containing neurons. Proc Natl Acad Sci U S A. 2016 113(40):11318-11323.
- Blood AJ, Waugh JL, Munte TF et al. Increased insula-putamen connectivity in X-linked dystonia-parkinsonism. Neuroimage Clin 2018; 17:835-846.
- Brueggemann, N, Domingo A, Rasche D et al. Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism. JAMA Neurol 2019 Feb 76(2):211-216.
- Bruggemann N, Rosales, R, Waugh, JL et al. Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression. Eur J Neurol. 2017 May;24(5):680-686.
- Capponi, S., Stoffler, N., Irimia, M.,et al. Neuronal-specific alternative splicing of the TAF1 gene is regulated by SRRM4/nSR100. RNA Biol 2020 Jan 17(1):62-74