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Page 1
Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
Lüth T, Laβ J, Schaake S, Wohlers I, Pozojevic J, Jamora RDG, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Schlüter K, Tse R, Reyes CJ, Brand M, Busch H, Klein C, Westenberger A, Trinh J. Lüth T, et al. Among authors: schaake s. Genes (Basel). 2022 Jan 11;13(1):126. doi: 10.3390/genes13010126. Genes (Basel). 2022. PMID: 35052466 Free PMC article.
Screening study of TUBB4A in isolated dystonia.
Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Brüggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C. Vulinovic F, et al. Among authors: schaake s. Parkinsonism Relat Disord. 2017 Aug;41:118-120. doi: 10.1016/j.parkreldis.2017.06.001. Epub 2017 Jun 10. Parkinsonism Relat Disord. 2017. PMID: 28655586 Free PMC article.
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.
Hebert E, Borngräber F, Schmidt A, Rakovic A, Brænne I, Weissbach A, Hampf J, Vollstedt EJ, Größer L, Schaake S, Müller M, Manzoor H, Jabusch HC, Alvarez-Fischer D, Kasten M, Kostic VS, Gasser T, Zeuner KE, Kim HJ, Jeon B, Bauer P, Altenmüller E, Klein C, Lohmann K. Hebert E, et al. Among authors: schaake s. Genes (Basel). 2017 Oct 18;8(10):276. doi: 10.3390/genes8100276. Genes (Basel). 2017. PMID: 29057844 Free PMC article. Review.
Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.
Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, König IR, Bertram L, Marras C, Lohmann K, Lill CM, Klein C. Kasten M, et al. Among authors: schaake s. Mov Disord. 2018 May;33(5):730-741. doi: 10.1002/mds.27352. Epub 2018 Apr 11. Mov Disord. 2018. PMID: 29644727
A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members.
Dulovic M, Schäffer E, Leypoldt F, Balck A, Schaake S, Hinrichs F, Kirchner H, Brüggemann N, Berg D, Lohmann K. Dulovic M, et al. Among authors: schaake s. Parkinsonism Relat Disord. 2018 Sep;54:116-118. doi: 10.1016/j.parkreldis.2018.04.001. Epub 2018 Apr 3. Parkinsonism Relat Disord. 2018. PMID: 29650490 No abstract available.
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: schaake s. Ann Neurol. 2019 Jun;85(6):812-822. doi: 10.1002/ana.25488. Epub 2019 May 3. Ann Neurol. 2019. PMID: 30973967
39 results