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Screening study of TUBB4A in isolated dystonia.
Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Brüggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C. Vulinovic F, et al. Among authors: simonyan k. Parkinsonism Relat Disord. 2017 Aug;41:118-120. doi: 10.1016/j.parkreldis.2017.06.001. Epub 2017 Jun 10. Parkinsonism Relat Disord. 2017. PMID: 28655586 Free PMC article.
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C. Lohmann K, et al. Among authors: simonyan k. Ann Neurol. 2013 Apr;73(4):537-45. doi: 10.1002/ana.23829. Epub 2013 Apr 17. Ann Neurol. 2013. PMID: 23595291 Free PMC article.
Neural correlates of abnormal sensory discrimination in laryngeal dystonia.
Termsarasab P, Ramdhani RA, Battistella G, Rubien-Thomas E, Choy M, Farwell IM, Velickovic M, Blitzer A, Frucht SJ, Reilly RB, Hutchinson M, Ozelius LJ, Simonyan K. Termsarasab P, et al. Among authors: simonyan k. Neuroimage Clin. 2015 Oct 30;10:18-26. doi: 10.1016/j.nicl.2015.10.016. eCollection 2016. Neuroimage Clin. 2015. PMID: 26693398 Free PMC article.
GNAL mutation in isolated laryngeal dystonia.
Putzel GG, Fuchs T, Battistella G, Rubien-Thomas E, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K. Putzel GG, et al. Among authors: simonyan k. Mov Disord. 2016 May;31(5):750-5. doi: 10.1002/mds.26502. Epub 2016 Feb 1. Mov Disord. 2016. PMID: 27093447 Free PMC article.
Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.
Rittiner JE, Caffall ZF, Hernández-Martinez R, Sanderson SM, Pearson JL, Tsukayama KK, Liu AY, Xiao C, Tracy S, Shipman MK, Hickey P, Johnson J, Scott B, Stacy M, Saunders-Pullman R, Bressman S, Simonyan K, Sharma N, Ozelius LJ, Cirulli ET, Calakos N. Rittiner JE, et al. Among authors: simonyan k. Neuron. 2016 Dec 21;92(6):1238-1251. doi: 10.1016/j.neuron.2016.11.012. Epub 2016 Dec 8. Neuron. 2016. PMID: 27939583 Free PMC article.
Dystonia treatment: Patterns of medication use in an international cohort.
Pirio Richardson S, Wegele AR, Skipper B, Deligtisch A, Jinnah HA; Dystonia Coalition Investigators. Pirio Richardson S, et al. Neurology. 2017 Feb 7;88(6):543-550. doi: 10.1212/WNL.0000000000003596. Epub 2017 Jan 11. Neurology. 2017. PMID: 28077492 Free PMC article.
Phenotype- and genotype-specific structural alterations in spasmodic dysphonia.
Bianchi S, Battistella G, Huddleston H, Scharf R, Fleysher L, Rumbach AF, Frucht SJ, Blitzer A, Ozelius LJ, Simonyan K. Bianchi S, et al. Among authors: simonyan k. Mov Disord. 2017 Apr;32(4):560-568. doi: 10.1002/mds.26920. Epub 2017 Feb 10. Mov Disord. 2017. PMID: 28186656 Free PMC article.
114 results