Publications

Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review

K Tschigg, L Consoli, R Biasiotto, D Mascalzoni
Eur J Hum Genet. 2022 Jun 15. doi: 10.1038/s41431-022-01120-y. Online ahead of print.
https://pubmed.ncbi.nlm.nih.gov/35705790/

A Mendelian randomization study investigating the causal role of inflammation on Parkinson’s disease

Daniele Bottigliengo, Luisa Foco, Philip Seibler, Christine Klein, Inke R König, Fabiola Del Greco M
Brain. 2022 Jun 3;awac193. doi: 10.1093/brain/awac193. Online ahead of print.
https://pubmed.ncbi.nlm.nih.gov/35656776/

Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

Lara M Lange, Paulina Gonzalez-Latapi, Rajasumi Rajalingam, Marina A J Tijssen, Darius Ebrahimi-Fakhari, Carolin Gabbert, Christos Ganos, Rhia Ghosh, Kishore R Kumar, Anthony E Lang, Malco Rossi, Sterre van der Veen, Bart van de Warrenburg, Tom Warner, Katja Lohmann, Christine Klein, Connie Marras, on behalf of the Task Force on Genetic Nomenclature in Movement Disorders
Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28.
https://pubmed.ncbi.nlm.nih.gov/35481685/

Prodromal X-Linked Dystonia-Parkinsonism is Characterized by a Subclinical Motor Phenotype

Julia Steinhardt, Henrike Hanssen, Marcus Heldmann, Andreas Sprenger, Björn-Hergen Laabs, Aloysius Domingo, Charles Jourdan Reyes, Jannik Prasuhn, Max Brand, Raymond Rosales, Thomas F Münte, Christine Klein, Ana Westenberger, Jean Q Oropilla, Cid Diesta, Norbert Brüggemann
Mov Disord. 2022 May 2. doi: 10.1002/mds.29033. Online ahead of print.
https://pubmed.ncbi.nlm.nih.gov/35491955/

Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1- and PRKN-linked Parkinson’s disease

Joanne Trinh, Andrew A. Hicks, Inke R. König, Sylvie Delcambre, Theresa Lüth, Susen Schaake, Kobi Wasner, Jenny Ghelfi, Max Borsche, Carles Vilariño-Güell, Faycel Hentati, Elisabeth L. Germer, Peter Bauer, Masashi Takanashi, Vladimir Kostić, Anthony E. Lang, Norbert Brüggemann, Peter P. Pramstaller, Irene Pichler, Alex Rajput, Nobutaka Hattori, Matthew J. Farrer, Katja Lohmann, Hansi Weissensteiner, Patrick May, Christine Klein, Anne Grünewald
https://doi.org/10.1101/2022.05.17.22275087

Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset

Trinh J, Lüth T, Schaake S, Laabs BH, Schlüter K, Laβ J, Pozojevic J, Tse R, König I, Dominic Jamora R, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Kaiser FJ, Depienne C, Pearson CE, Westenberger A, Klein C.
Brain. 2022 Apr 27;awac160. doi: 10.1093/brain/awac160. Online ahead of print.
https://pubmed.ncbi.nlm.nih.gov/35481544/

Generation and characterization of induced pluripotent stem cell (iPSC) lines of two asymptomatic individuals carrying a heterozygous exon 7 deletion in Parkin (PRKN) and two non-carriers from the same family

Maria Paulina Castelo Rueda, Valentina Gilmozzi, Diana A. Riekschnitz, Marina Di Segni, Rosamaria Silipigni, Peter P. Pramstaller, Andrew A. Hicks, Irene Pichler, Alessandra Zanona
Stem Cell Res. 2022 Apr;60:102692. doi: 10.1016/j.scr.2022.102692. Epub 2022 Jan 27.
https://pubmed.ncbi.nlm.nih.gov/35121197/

Electrophysiological Properties of Induced Pluripotent Stem Cell-Derived Midbrain Dopaminergic Neurons Correlate With Expression of Tyrosine Hydroxylase

Aleksandar Rakovic, Dorothea Voß, Franca Vulinovic, Britta Meier, Ann-Katrin Hellberg, Carla Nau, Christine Klein, Enrico Leipold
Front Cell Neurosci. 2022 Mar 23;16:817198. doi: 10.3389/fncel.2022.817198. eCollection 2022.
https://pubmed.ncbi.nlm.nih.gov/35401116/

H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects

Victor Krajka, Franca Vulinovic, Mariya Genova, Kerstin Tanzer, A S Jijumon, Satish Bodakuntla, Stephanie Tennstedt, Helge Mueller-Fielitz, Britta Meier, Carsten Janke, Christine Klein, Aleksandar Rakovic
Sci Adv. 2022 Mar 11;8(10):eabj9229. doi: 10.1126/sciadv.abj9229. Epub 2022 Mar 11.
https://pubmed.ncbi.nlm.nih.gov/35275727/

Relationship between brain iron deposition and mitochondrial dysfunction in idiopathic Parkinson’s disease

Jannik Prasuhn, Martin Göttlich, Friederike Gerkan, Sofia Kourou, Britt Ebeling, Meike Kasten, Henrike Hanssen, Christine Klein & Norbert Brüggemann
Mol Med. 2022 Mar 4;28(1):28. doi: 10.1186/s10020-021-00426-9.
https://pubmed.ncbi.nlm.nih.gov/35246038/

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