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Clinical and genetic features of cervical dystonia in a large multicenter cohort.
LeDoux MS, Vemula SR, Xiao J, Thompson MM, Perlmutter JS, Wright LJ, Jinnah HA, Rosen AR, Hedera P, Comella CL, Weissbach A, Junker J, Jankovic J, Barbano RL, Reich SG, Rodriguez RL, Berman BD, Chouinard S, Severt L, Agarwal P, Stover NP. LeDoux MS, et al. Among authors: vemula sr. Neurol Genet. 2016 Apr 11;2(3):e69. doi: 10.1212/NXG.0000000000000069. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27123488 Free PMC article.
Mutations in CIZ1 cause adult onset primary cervical dystonia.
Xiao J, Uitti RJ, Zhao Y, Vemula SR, Perlmutter JS, Wszolek ZK, Maraganore DM, Auburger G, Leube B, Lehnhoff K, LeDoux MS. Xiao J, et al. Among authors: vemula sr. Ann Neurol. 2012 Apr;71(4):458-69. doi: 10.1002/ana.23547. Epub 2012 Mar 23. Ann Neurol. 2012. PMID: 22447717 Free PMC article.
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.
Vemula SR, Puschmann A, Xiao J, Zhao Y, Rudzińska M, Frei KP, Truong DD, Wszolek ZK, LeDoux MS. Vemula SR, et al. Hum Mol Genet. 2013 Jun 15;22(12):2510-9. doi: 10.1093/hmg/ddt102. Epub 2013 Feb 27. Hum Mol Genet. 2013. PMID: 23449625 Free PMC article.
Pathogenic variants in TUBB4A are not found in primary dystonia.
Vemula SR, Xiao J, Bastian RW, Momčilović D, Blitzer A, LeDoux MS. Vemula SR, et al. Neurology. 2014 Apr 8;82(14):1227-30. doi: 10.1212/WNL.0000000000000294. Epub 2014 Mar 5. Neurology. 2014. PMID: 24598712 Free PMC article.
A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.
Vemula SR, Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Truong DD, Blitzer A, Rudzińska M, Momčilović D, Jinnah HA, Frei K, Pfeiffer RF, LeDoux MS. Vemula SR, et al. Mol Genet Genomic Med. 2014 May;2(3):261-72. doi: 10.1002/mgg3.67. Epub 2014 Feb 11. Mol Genet Genomic Med. 2014. PMID: 24936516 Free PMC article.
Recent advances in the genetics of dystonia.
Xiao J, Vemula SR, LeDoux MS. Xiao J, et al. Among authors: vemula sr. Curr Neurol Neurosci Rep. 2014 Aug;14(8):462. doi: 10.1007/s11910-014-0462-8. Curr Neurol Neurosci Rep. 2014. PMID: 24952478 Free PMC article. Review.
Blepharospasm in a multiplex African-American pedigree.
Xiao J, Thompson MM, Vemula SR, LeDoux MS. Xiao J, et al. Among authors: vemula sr. J Neurol Sci. 2016 Mar 15;362:299-303. doi: 10.1016/j.jns.2016.02.003. Epub 2016 Feb 2. J Neurol Sci. 2016. PMID: 26944167 Free PMC article.
25 results