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Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.
Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C, Marras C; on behalf of the Task Force on Genetic Nomenclature in Movement Disorders. Lange LM, et al. Among authors: kumar kr. Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28. Mov Disord. 2022. PMID: 35481685 Review.
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
Glucocerebrosidase mutations in a Serbian Parkinson's disease population.
Kumar KR, Ramirez A, Göbel A, Kresojević N, Svetel M, Lohmann K, M Sue C, Rolfs A, Mazzulli JR, Alcalay RN, Krainc D, Klein C, Kostic V, Grünewald A. Kumar KR, et al. Eur J Neurol. 2013 Feb;20(2):402-5. doi: 10.1111/j.1468-1331.2012.03817.x. Epub 2012 Jul 20. Eur J Neurol. 2013. PMID: 22812582
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.
Nonmotor and diagnostic findings in subjects with de novo Parkinson disease of the DeNoPa cohort.
Mollenhauer B, Trautmann E, Sixel-Döring F, Wicke T, Ebentheuer J, Schaumburg M, Lang E, Focke NK, Kumar KR, Lohmann K, Klein C, Schlossmacher MG, Kohnen R, Friede T, Trenkwalder C; DeNoPa Study Group. Mollenhauer B, et al. Among authors: kumar kr. Neurology. 2013 Oct 1;81(14):1226-34. doi: 10.1212/WNL.0b013e3182a6cbd5. Epub 2013 Aug 30. Neurology. 2013. PMID: 23997153
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.
304 results