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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: kumar kr. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
Frequency of the D620N mutation in VPS35 in Parkinson disease.
Kumar KR, Weissbach A, Heldmann M, Kasten M, Tunc S, Sue CM, Svetel M, Kostić VS, Segura-Aguilar J, Ramirez A, Simon DK, Vieregge P, Münte TF, Hagenah J, Klein C, Lohmann K. Kumar KR, et al. Arch Neurol. 2012 Oct;69(10):1360-4. doi: 10.1001/archneurol.2011.3367. Arch Neurol. 2012. PMID: 22801713
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: kumar kr. 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.
GNAL mutations and dystonia--reply.
Kumar KR, Martemyanov KA, Lohmann K. Kumar KR, et al. JAMA Neurol. 2014 Aug;71(8):1053-4. doi: 10.1001/jamaneurol.2014.1509. JAMA Neurol. 2014. PMID: 25111209 No abstract available.
Mutations in TUBB4A and spastic paraplegia.
Kumar KR, Vulinovic F, Lohmann K, Park JS, Schaake S, Sue CM, Klein C. Kumar KR, et al. Mov Disord. 2015 Nov;30(13):1857-8. doi: 10.1002/mds.26444. Epub 2015 Oct 19. Mov Disord. 2015. PMID: 26477786 No abstract available.
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: kumar kr. 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.
303 results