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470 results

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Page 1
Clinical Features and Evolution of Blepharospasm: A Multicenter International Cohort and Systematic Literature Review.
Scorr LM, Cho HJ, Kilic-Berkmen G, McKay JL, Hallett M, Klein C, Baumer T, Berman BD, Feuerstein JS, Perlmutter JS, Berardelli A, Ferrazzano G, Wagle-Shukla A, Malaty IA, Jankovic J, Bellows ST, Barbano RL, Vidailhet M, Roze E, Bonnet C, Mahajan A, LeDoux MS, Fung VSC, Chang FCF, Defazio G, Ercoli T, Factor S, Wojno T, Jinnah HA. Scorr LM, et al. Among authors: perlmutter js. Dystonia. 2022;1:10359. doi: 10.3389/dyst.2022.10359. Epub 2022 May 16. Dystonia. 2022. PMID: 36248010 Free PMC article.
Research priorities in spasmodic dysphonia.
Ludlow CL, Adler CH, Berke GS, Bielamowicz SA, Blitzer A, Bressman SB, Hallett M, Jinnah HA, Juergens U, Martin SB, Perlmutter JS, Sapienza C, Singleton A, Tanner CM, Woodson GE. Ludlow CL, et al. Among authors: perlmutter js. Otolaryngol Head Neck Surg. 2008 Oct;139(4):495-505. doi: 10.1016/j.otohns.2008.05.624. Otolaryngol Head Neck Surg. 2008. PMID: 18922334 Free PMC article. Review.
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: perlmutter js. 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: perlmutter js. 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.
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: perlmutter js. 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.
The focal dystonias: current views and challenges for future research.
Jinnah HA, Berardelli A, Comella C, Defazio G, Delong MR, Factor S, Galpern WR, Hallett M, Ludlow CL, Perlmutter JS, Rosen AR; Dystonia Coalition Investigators. Jinnah HA, et al. Among authors: perlmutter js. Mov Disord. 2013 Jun 15;28(7):926-43. doi: 10.1002/mds.25567. Mov Disord. 2013. PMID: 23893450 Free PMC article. Review.
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. Among authors: perlmutter js. 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.
Secured web-based video repository for multicenter studies.
Yan L, Hicks M, Winslow K, Comella C, Ludlow C, Jinnah HA, Rosen AR, Wright L, Galpern WR, Perlmutter JS. Yan L, et al. Among authors: perlmutter js. Parkinsonism Relat Disord. 2015 Apr;21(4):366-71. doi: 10.1016/j.parkreldis.2015.01.011. Epub 2015 Jan 20. Parkinsonism Relat Disord. 2015. PMID: 25630890 Free PMC article.
Clinimetric testing of the comprehensive cervical dystonia rating scale.
Comella CL, Perlmutter JS, Jinnah HA, Waliczek TA, Rosen AR, Galpern WR, Adler CA, Barbano RL, Factor SA, Goetz CG, Jankovic J, Reich SG, Rodriguez RL, Severt WL, Zurowski M, Fox SH, Stebbins GT. Comella CL, et al. Among authors: perlmutter js. Mov Disord. 2016 Apr;31(4):563-9. doi: 10.1002/mds.26534. Epub 2016 Mar 12. Mov Disord. 2016. PMID: 26971359 Free PMC article.
470 results