Publications

Neuroimaging Abnormalities in Individuals Exhibiting Parkinson’s Disease Risk Markers. Mov Disord, in press.

Heldmann M*, Heeren J*, Klein C, Rauch L, Hagenah J, Münte TF, Kasten M, Brüggemann N (2018)

Genotype-phenotype relations for the Parkinson’s Disease genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, König IR, Bertram L, Marras C, Lohmann K, Lill CM, Klein C. Mov Disord. 2018 Apr 11. doi: 10.1002/mds.27352. [Epub ahead of print] https://www.ncbi.nlm.nih.gov/pubmed/29644727

Genome-Edited, TH-expressing Neuroblastoma Cells as a Disease Model for Dopamine-Related Disorders: A Proof-of-Concept Study on DJ-1-deficient Parkinsonism

Jannik Prasuhn, Christoph U. Mårtensson, Victor Krajka, Christine Klein,* and Aleksandar Rakovic. Front Cell Neurosci. 2017; 11: 426. Published online 2018 Jan 8. doi:10.3389/fncel.2017.00426. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770810/

Reduced penetrance of Leucine-rich repeat kinase 2 mutations: Discovering genetic factors of endogenous disease protection

Balck A, Klein C. Mov Disord. 2017 Apr;32(4):527. doi: 10.1002/mds.26940. Epub 2017 Feb 20. https://www.ncbi.nlm.nih.gov/pubmed/28218415

Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression

Hollstein R, Reiz B, Kötter L, Richter A, Schaake S, Lohmann K, Kaiser FJ. Hum Mol Genet. 2017 Aug 1;26(15):2975-2983. doi: 10.1093/hmg/ddx187. https://www.ncbi.nlm.nih.gov/pubmed/28486698

What would Dr. James Parkinson think today? The role of genetics in Parkinson’s disease

Lill CM, Klein C. Mov Disord. 2017 Aug;32(8):1115-1116. doi: 10.1002/mds.27141. https://www.ncbi.nlm.nih.gov/pubmed/28836355

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. Parkinsonism Relat Disord. 2017 Aug;41:118-120. doi: 10.1016/j.parkreldis.2017.06.001. Epub 2017 Jun 10. https://www.ncbi.nlm.nih.gov/pubmed/?term=28655586

Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers.

Weissbach A, König IR, Hückelheim K, Pramstaller PP, Werner E, Brüggemann N, Tadic V, Lohmann K, Bäumer T, Münchau A, Kasten M, Klein C. Parkinsonism Relat Disord. 2017 Jul 8. pii: S1353-8020(17)30236-5. doi: 10.1016/j.parkreldis.2017.07.003. [Epub ahead of print] https://www.ncbi.nlm.nih.gov/pubmed/28716427

Genetic risk variants in Parkinson’s disease and other movement disorders

Brockmann K, Lohmann K. Nervenarzt. 2017 Jul;88(7):713-719. doi: 10.1007/s00115-017-0348-5. https://www.ncbi.nlm.nih.gov/pubmed/?term=28536875

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C. JAMA Neurol. 2017 Jul 1;74(7):806-812. doi: 10.1001/jamaneurol.2017.0666. https://www.ncbi.nlm.nih.gov/pubmed/?term=28558098