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Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing

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. 2021 Jul 6;7(4):e608. doi: 10.1212/NXG.0000000000000608. eCollection 2021 Aug.
https://pubmed.ncbi.nlm.nih.gov/31321300/

Association of Locus Coeruleus and Substantia Nigra Pathology With Cognitive and Motor Functions in Patients With Parkinson Disease

Jannik Prasuhn, Michelle Prasuhn, Anja Fellbrich, Robert Strautz, Felicitas Lemmer, Shalida Dreischmeier, Meike Kasten, Thomas F Münte, Henrike Hanssen, Marcus Heldmann, Norbert Brüggemann
Neurology. 2021 Sep 7;97(10):e1007-e1016. doi: 10.1212/WNL.0000000000012444. Epub 2021 Jun 29.
https://pubmed.ncbi.nlm.nih.gov/34187859/

Letter to the Editor about the Ongre et al. publication: ‘Progression of fatigue in Parkinson’s disease-a 9-year follow-up’ (Eur J Neurol 2020. doi: 10.1111/ene.14520)

Vollstedt E-J, Warrlich E, Hauptmann B, Hanssen H, Klein C, Kasten M, EPIPARK Study Group
Eur J Neurol. 2021 Jun;28(6):e35-e36. doi: 10.1111/ene.14740. Epub 2021 Mar 20.
https://pubmed.ncbi.nlm.nih.gov/33459455/

Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model

Baumann B , Ott F , Weber J, Trilck-Winkler M, Münchau A, Zittel S, Kostić VS, Kaiser FJ, Klein C, Busch H, Seibler P, Lohmann K
Mov Disord. 2021 Jun;36(6):1381-1391. doi: 10.1002/mds.28506. Epub 2021 Feb 6.
https://pubmed.ncbi.nlm.nih.gov/33314312/

Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism

Björn-Hergen Laabs, Christine Klein, Jelena Pozojevic, Aloysius Domingo, Norbert Brüggemann, Karen Grütz, Raymond L Rosales, Roland Dominic Jamora, Gerard Saranza, Cid Czarina E Diesta, Michael Wittig, Susen Schaake, Marija Dulovic-Mahlow, Jana Quismundo, Pia Otto, Patrick Acuna, Criscely Go, Nutan Sharma, Trisha Multhaupt-Buell, Ulrich Müller, Henrike Hanssen, Fabian Kilpert, Andre Franke, Arndt Rolfs, Peter Bauer, Valerija Dobričić, Katja Lohmann, Laurie J Ozelius, Frank J Kaiser, Inke R König, Ana Westenberger
Nat Commun. 2021 May 28;12(1):3216. doi: 10.1038/s41467-021-23491-4.
https://pubmed.ncbi.nlm.nih.gov/34050153/

Reduced Expression of GABA A Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons

Selma Staege, Anna Kutschenko, Hauke Baumann, Hannes Glaß, Lisa Henkel, Thomas Gschwendtberger, Norman Kalmbach, Martin Klietz, Andreas Hermann, Katja Lohmann, Philip Seibler, Florian Wegner
Front Cell Dev Biol. 2021 May 21;9:650586. doi: 10.3389/fcell.2021.650586. eCollection 2021.
https://pubmed.ncbi.nlm.nih.gov/34095114/

Task matters – challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls

Jannik Prasuhn, Max Borsche, Andrew A Hicks, Martin Gögele, Clemens Egger, Cleo Kritzinger, Irene Pichler, Maria Paulina Castelo-Rueda, Lynn Langlott, Meike Kasten, Deborah Mascalzoni, Christine Klein, Peter P Pramstaller, Norbert Brüggemann
Parkinsonism Relat Disord. 2021 May;86:101-104. doi: 10.1016/j.parkreldis.2021.03.028. Epub 2021 Apr 20.
https://pubmed.ncbi.nlm.nih.gov/33895538/

Balancing scientific interests and the rights of participants in designing a recall by genotype study

Mascalzoni D, Staunton C, Kösters M, Houeland G, De Grandi A, Borsche M, Goegele M, Klein C, Bruggemann N, Pramstaller PP, Krawcak M, Hicks AA
Eur J Hum Genet. 2021 Jul;29(7):1146-1157. doi: 10.1038/s41431-021-00860-7. Epub 2021 May 13.
https://pubmed.ncbi.nlm.nih.gov/33981014/

Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

Lange LM, Junker J, Loens S, Baumann H, Olschewski L, Schaake S, Madoev H, Petkovic S, Kuhnke N, Kasten M, Westenberger A, Domingo A, Marras C, König IR, Camargos S, Ozelius LJ, Klein C, Lohmann K
Mov Disord. 2021 May;36(5):1086-1103. doi: 10.1002/mds.28485. Epub 2021 Jan 27.
https://pubmed.ncbi.nlm.nih.gov/33502045/

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