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

Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A,; International Parkinson’s Disease Genomics Consortium (IPDGC), Klein C.

Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10.

https://www.ncbi.nlm.nih.gov/pubmed/30537300

Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism

Brüggemann N, Domingo A, Rasche D, Moll CKE, Rosales RL, Jamora RDG, Hanssen H, Münchau A, Graf J, Weissbach A, Tadic V, Diesta CC, Volkmann J, Kühn A0, Münte TF, Tronnier V, Klein C.
JAMA Neurol. 2018 Dec 3. doi: 10.1001/jamaneurol.2018.3777. [Epub ahead of print]

https://www.ncbi.nlm.nih.gov/pubmed/30508028

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.

Vulinovic F, Krajka V, Hausrat TJ, Seibler P, Alvarez-Fischer D, Madoev H, Park JS, Kumar KR, Sue CM, Lohmann K, Kneussel M, Klein C, Rakovic A.
Hum Mutat. 2018 Dec;39(12):1901-1915. doi: 10.1002/humu.23602. Epub 2018 Sep 7.

https://www.ncbi.nlm.nih.gov/pubmed/30079973

Genotype-phenotype relations for the Parkinson’s disease genes SNCA, LRRK2, VPS35: MDSGene systematic review

Trinh J, Zeldenrust FMJ, Huang J, Kasten M,, Schaake S, Petkovic S, Madoev H, Grünewald A, Almuammar S, König IR, Lill CM, Lohmann K, Klein C, Marras C.
Mov Disord. 2018 Dec;33(12):1857-1870. doi: 10.1002/mds.27527. Epub 2018 Oct 24.

https://www.ncbi.nlm.nih.gov/pubmed/30357936

Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia

Ohlei O, Dobricic V, Lohmann K, Klein C, Lill CM, Bertram L.
Parkinsonism Relat Disord. 2018 Dec;57:50-57. doi: 10.1016/j.parkreldis.2018.07.018. Epub 2018 Jul 27.
https://www.ncbi.nlm.nih.gov/pubmed/30100364

The revival of the Gini importance?

Nembrini S, König IR, Wright MN.
Bioinformatics. 2018 Nov 1;34(21):3711-3718. doi: 10.1093/bioinformatics/bty373.

https://www.ncbi.nlm.nih.gov/pubmed/29757357

PINK1-dependent mitophagy is driven by the UPS and can occur independently of LC3 conversion

Rakovic A, Ziegler J, Mårtensson CU, Prasuhn J, Shurkewitsch K, König P, Paulson HL, Klein C.
Cell Death Differ. 2018 Oct 30. doi: 10.1038/s41418-018-0219-z. [Epub ahead of print]

https://www.ncbi.nlm.nih.gov/pubmed/30375512

Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells

Seibler P, Burbulla LF, Dulovic M, Zittel S,, Heine J, Schmidt T, Rudolph F, Westenberger A, Rakovic A, Münchau A, Krainc D, Klein C.
Brain. 2018 Oct 1;141(10):3052-3064. doi: 10.1093/brain/awy230.

https://www.ncbi.nlm.nih.gov/pubmed/30169597

Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers

Baumann H, Jahn M, Muenchau A, Trilck-Winkler M, Lohmann K, Seibler P.
Stem Cell Res. 2018 Dec;33:60-64. doi: 10.1016/j.scr.2018.09.018. Epub 2018 Oct 1.

https://www.ncbi.nlm.nih.gov/pubmed/30316041

Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism

Hanssen H,, Heldmann M, Prasuhn J,, Tronnier V, Rasche D, Diesta CC, Domingo A, Rosales RL, Jamora RD, Klein C, Münte TF, Brüggemann N.
Brain. 2018 Oct 1;141(10):2995-3008. doi: 10.1093/brain/awy222.
https://www.ncbi.nlm.nih.gov/pubmed/30169601