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A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.
Westenberger A, Reyes CJ, Saranza G, Dobricic V, Hanssen H, Domingo A, Laabs BH, Schaake S, Pozojevic J, Rakovic A, Grütz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kaiser FJ, Ozelius LJ, Jamora RD, Rosales RL, Diesta CCE, Lohmann K, König IR, Brüggemann N, Klein C. Westenberger A, et al. Among authors: konig ir. Ann Neurol. 2019 Jun;85(6):812-822. doi: 10.1002/ana.25488. Epub 2019 May 3. Ann Neurol. 2019. PMID: 30973967
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
Laabs BH, Klein C, Pozojevic J, Domingo A, Brüggemann N, Grütz K, Rosales RL, Jamora RD, Saranza G, Diesta CCE, Wittig M, Schaake S, Dulovic-Mahlow M, Quismundo J, Otto P, Acuna P, Go C, Sharma N, Multhaupt-Buell T, Müller U, Hanssen H, Kilpert F, Franke A, Rolfs A, Bauer P, Dobričić V, Lohmann K, Ozelius LJ, Kaiser FJ, König IR, Westenberger A. Laabs BH, et al. Among authors: konig ir. Nat Commun. 2021 May 28;12(1):3216. doi: 10.1038/s41467-021-23491-4. Nat Commun. 2021. PMID: 34050153 Free PMC article.
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing.
Reyes CJ, Laabs BH, Schaake S, Lüth T, Ardicoglu R, Rakovic A, Grütz K, Alvarez-Fischer D, Jamora RD, Rosales RL, Weyers I, König IR, Brüggemann N, Klein C, Dobricic V, Westenberger A, Trinh J. Reyes CJ, et al. Among authors: konig ir. Neurol Genet. 2021 Jul 6;7(4):e608. doi: 10.1212/NXG.0000000000000608. eCollection 2021 Aug. Neurol Genet. 2021. PMID: 34250228 Free PMC article.
DNA Methylation as a Potential Molecular Mechanism in X-linked Dystonia-Parkinsonism.
Krause C, Schaake S, Grütz K, Sievert H, Reyes CJ, König IR, Laabs BH, Jamora RD, Rosales RL, Diesta CCE, Pozojevic J, Gemoll T, Westenberger A, Kaiser FJ, Klein C, Kirchner H. Krause C, et al. Among authors: konig ir. Mov Disord. 2020 Dec;35(12):2220-2229. doi: 10.1002/mds.28239. Epub 2020 Sep 10. Mov Disord. 2020. PMID: 32914507
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, Jamora RD, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Kaiser FJ, Depienne C, Pearson CE, Westenberger A, Klein C. Trinh J, et al. Brain. 2023 Mar 1;146(3):1075-1082. doi: 10.1093/brain/awac160. Brain. 2023. PMID: 35481544 Free PMC article.
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. Lange LM, et al. Among authors: konig ir. Mov Disord. 2021 May;36(5):1086-1103. doi: 10.1002/mds.28485. Epub 2021 Jan 27. Mov Disord. 2021. PMID: 33502045 Review.
367 results