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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: sharma n. 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.
Mutations in GNAL cause primary torsion dystonia.
Fuchs T, Saunders-Pullman R, Masuho I, Luciano MS, Raymond D, Factor S, Lang AE, Liang TW, Trosch RM, White S, Ainehsazan E, Hervé D, Sharma N, Ehrlich ME, Martemyanov KA, Bressman SB, Ozelius LJ. Fuchs T, et al. Among authors: sharma n. Nat Genet. 2013 Jan;45(1):88-92. doi: 10.1038/ng.2496. Epub 2012 Dec 9. Nat Genet. 2013. PMID: 23222958 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. Among authors: sharma n. 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.
Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias.
Waugh JL, Kuster JK, Levenstein JM, Makris N, Multhaupt-Buell TJ, Sudarsky LR, Breiter HC, Sharma N, Blood AJ. Waugh JL, et al. Among authors: sharma n. PLoS One. 2016 May 12;11(5):e0155302. doi: 10.1371/journal.pone.0155302. eCollection 2016. PLoS One. 2016. PMID: 27171035 Free PMC article.
Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.
de Gusmão CM, Fuchs T, Moses A, Multhaupt-Buell T, Song PC, Ozelius LJ, Franco RA, Sharma N. de Gusmão CM, et al. Among authors: sharma n. Otolaryngol Head Neck Surg. 2016 Oct;155(4):624-8. doi: 10.1177/0194599816648293. Epub 2016 May 17. Otolaryngol Head Neck Surg. 2016. PMID: 27188707 Free PMC article.
7,266 results