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A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Neilson DE, Zech M, Hufnagel RB, Slone J, Wang X, Homan S, Gutzwiller LM, Leslie EJ, Leslie ND, Xiao J, Hedera P, LeDoux MS, Gebelein B, Wilbert F, Eckenweiler M, Winkelmann J, Gilbert DL, Huang T. Neilson DE, et al. Among authors: ledoux ms. Mov Disord. 2022 Feb;37(2):375-383. doi: 10.1002/mds.28821. Epub 2021 Oct 11. Mov Disord. 2022. PMID: 34636445 Free PMC article.
Caytaxin deficiency causes generalized dystonia in rats.
Xiao J, Ledoux MS. Xiao J, et al. Among authors: ledoux ms. Brain Res Mol Brain Res. 2005 Nov 30;141(2):181-92. doi: 10.1016/j.molbrainres.2005.09.009. Epub 2005 Oct 24. Brain Res Mol Brain Res. 2005. PMID: 16246457
High-throughput mutational analysis of TOR1A in primary dystonia.
Xiao J, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, Zhao Y, LeDoux MS. Xiao J, et al. Among authors: ledoux ms. BMC Med Genet. 2009 Mar 11;10:24. doi: 10.1186/1471-2350-10-24. BMC Med Genet. 2009. PMID: 19284587 Free PMC article.
Novel THAP1 sequence variants in primary dystonia.
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS. Xiao J, et al. Among authors: ledoux ms. Neurology. 2010 Jan 19;74(3):229-38. doi: 10.1212/WNL.0b013e3181ca00ca. Neurology. 2010. PMID: 20083799 Free PMC article.
The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Blitzer A, Rudzińska M, Pfeiffer RF, Le C, LeDoux MS. Xiao J, et al. Among authors: ledoux ms. Mov Disord. 2011 Feb 15;26(3):549-52. doi: 10.1002/mds.23551. Epub 2011 Mar 2. Mov Disord. 2011. PMID: 21370264 Free PMC article.
171 results