Publications

Utility and implications of exome sequencing in early-onset Parkinson’s disease

Joanne Trinh, Katja Lohmann, Hauke Baumann, Alexander Balck, Max Borsche, Norbert Brüggemann, Leon Dure, Marissa Dean, Jens Volkmann, Sinem Tunc, Jannik Prasuhn, Heike Pawlack, Sophie Imhoff, Christina M Lill, Meike Kasten, Peter Bauer, Arndt Rolfs, International Parkinson's Disease Genomics Consortium (IPDGC); Christine Klein
Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10.
https://pubmed.ncbi.nlm.nih.gov/30537300/

Risky behaviors and Parkinson disease: A mendelian randomization study

Grover S, Lill CM, Kasten M, Klein C, Del Greco MF, König IR
Neurology. 2019 Oct 8;93(15):e1412-e1424. doi: 10.1212/WNL.0000000000008245. Epub 2019 Sep 16.
https://pubmed.ncbi.nlm.nih.gov/31527283/

Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patients

Nickels SL, Walter J, Bolognin S, Gérard D, Jaeger C, Qing X, Tisserand J, Jarazo J, Hemmer K, Harms A, Halder R, Lucarelli P, Berger E, Antony PMA, Glaab E, Hankemeier T, Klein C, Sauter T, Sinkkonen L, Schwamborn JC
Parkinsonism Relat Disord. 2019 Oct;67:48-55. doi: 10.1016/j.parkreldis.2019.09.018. Epub 2019 Sep 19.
https://pubmed.ncbi.nlm.nih.gov/31621607/

Imaging gradual neurodegeneration in a basal ganglia model disease

Hanssen H, Prasuhn J, Heldmann M, Diesta CC, Domingo A, Göttlich M, Blood AJ, Rosales RL, Jamora RDG, Münte TF, Klein C, Brüggemann N
Ann Neurol. 2019 Oct;86(4):517-526. doi: 10.1002/ana.25566. Epub 2019 Aug 23.
https://pubmed.ncbi.nlm.nih.gov/31376168/

Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2

Tunc S, Dulovic-Mahlow M, Baumann H, Baaske MK, Jahn M, Junker J, Münchau A, Brüggemann N, Lohmann K
Cerebellum. 2019 Aug;18(4):817-822. doi: 10.1007/s12311-019-01036-2.
https://pubmed.ncbi.nlm.nih.gov/31111429/

Using global team science to identify genetic parkinson’s disease worldwide

Vollstedt EJ, Kasten M, Klein C, MJFF Global Genetic Parkinson's Disease Study Group. "Using global team science to identify genetic parkinson's disease worldwide"
Ann Neurol. 2019 Aug;86(2):153-157. doi: 10.1002/ana.25514. Epub 2019 Jun 26.
https://pubmed.ncbi.nlm.nih.gov/31155756/

The sooner, the later – delayed diagnosis in Parkinson’s disease due to Parkin mutations

Borsche M, Balck A, Kasten M, Klein C, Brüggemann N
Parkinsonism Relat Disord. 2019 Aug;65:284-285. doi: 10.1016/j.parkreldis.2019.06.020. Epub 2019 Jun 23.
https://pubmed.ncbi.nlm.nih.gov/31255538/

HACE1 deficiency leads to structural and functional neurodevelopmental defects

Nagy V, Hollstein R, Pai TP, Herde MK, Buphamalai P, Moeseneder P, Lenartowicz E, Kavirayani A, Korenke GC, Kozieradzki I, Nitsch R, Cicvaric A, Monje Quiroga FJ, Deardorff MA, Bedoukian EC, Li Y, Yigit G, Menche J, Perçin EF, Wollnik B, Henneberger C, Kaiser FJ, Penninger JM
Neurol Genet. 2019 Apr 29;5(3):e330. doi: 10.1212/NXG.0000000000000330. eCollection 2019 Jun.
https://pubmed.ncbi.nlm.nih.gov/31321300/

Discordance in monozygotic Parkinson’s disease twins – continuum or dichotomy?

Balck A, Borsche M, Kasten M, Lohmann K, Seibler P, Brüggemann N, Klein C
Ann Clin Transl Neurol. 2019 May 2;6(6):1102-1105. doi: 10.1002/acn3.775. eCollection 2019 Jun.
https://pubmed.ncbi.nlm.nih.gov/31211174/

Highly reduced penetrance in a family with a THAP1 nonsense mutation: Role of THAP1 expression?

Dulovic-Mahlow M, Gajos A, Baumann H, Pozojevic J, Kaiser FJ, Bogucki A,  Lohmann K
Parkinsonism Relat Disord. 2019 Aug;65:274-276. doi: 10.1016/j.parkreldis.2019.05.036. Epub 2019 May 25.
https://pubmed.ncbi.nlm.nih.gov/31153764/

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