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The genetics of dystonias.
LeDoux MS. LeDoux MS. Adv Genet. 2012;79:35-85. doi: 10.1016/B978-0-12-394395-8.00002-5. Adv Genet. 2012. PMID: 22989765 Free PMC article. Review.
Dystonia: phenomenology.
LeDoux MS. LeDoux MS. Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1(Suppl 1):S162-4. doi: 10.1016/S1353-8020(11)70050-5. Parkinsonism Relat Disord. 2012. PMID: 22166421 Free PMC article. Review.
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.
An African-American family with dystonia.
Puschmann A, Xiao J, Bastian RW, Searcy JA, LeDoux MS, Wszolek ZK. Puschmann A, et al. Parkinsonism Relat Disord. 2011 Aug;17(7):547-50. doi: 10.1016/j.parkreldis.2011.04.019. Epub 2011 May 20. Parkinsonism Relat Disord. 2011. PMID: 21601506 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. 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.