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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://pubmed.ncbi.nlm.nih.gov/36478228/

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/

Clinical relevance and translational impact of reduced penetrance in genetic movement disorders

Sebastian Heinzel , Deborah Mascalzoni , Tobias Bäumer , Daniela Berg , Meike Kasten und Norbert Brüggemann

https://doi.org/10.1515/medgen-2022-2128

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/

Coffee, smoking and aspirin are associated with age at onset in idiopathic Parkinson’s disease

Carolin Gabbert, Inke R König, Theresa Lüth, Beke Kolms, Meike Kasten, Eva-Juliane Vollstedt, Alexander Balck, Anne Grünewald, Christine Klein, Joanne Trinh
J Neurol. 2022 Mar 2. doi: 10.1007/s00415-022-11041-x. Online ahead of print.
https://pubmed.ncbi.nlm.nih.gov/35235000/

Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review

Anne Weissbach, Martje G Pauly, Rebecca Herzog, Lisa Hahn, Sara Halmans, Feline Hamami, Christina Bolte, Sarah Camargos, Beomseok Jeon, Manju A Kurian, Thomas Opladen, Norbert Brüggemann, Hans-Jürgen Huppertz, Inke R König, Christine Klein, Katja Lohmann
Mov Disord. 2022 Feb;37(2):237-252. doi: 10.1002/mds.28874. Epub 2021 Dec 15.
https://pubmed.ncbi.nlm.nih.gov/34908184/

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