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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: saranza g. Nat Commun. 2021 May 28;12(1):3216. doi: 10.1038/s41467-021-23491-4. Nat Commun. 2021. PMID: 34050153 Free PMC article.
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: saranza g. Ann Neurol. 2019 Jun;85(6):812-822. doi: 10.1002/ana.25488. Epub 2019 May 3. Ann Neurol. 2019. PMID: 30973967
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: saranza g. Genes (Basel). 2022 Jan 11;13(1):126. doi: 10.3390/genes13010126. Genes (Basel). 2022. PMID: 35052466 Free PMC article.
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. Among authors: saranza g. Brain. 2023 Mar 1;146(3):1075-1082. doi: 10.1093/brain/awac160. Brain. 2023. PMID: 35481544 Free PMC article.
Combined dystonias: clinical and genetic updates.
Weissbach A, Saranza G, Domingo A. Weissbach A, et al. Among authors: saranza g. J Neural Transm (Vienna). 2021 Apr;128(4):417-429. doi: 10.1007/s00702-020-02269-w. Epub 2020 Oct 24. J Neural Transm (Vienna). 2021. PMID: 33099685 Review.
Multimodal Longitudinal Neurophysiological Investigations in Dopa-Responsive Dystonia.
Weissbach A, Steinmeier A, Pauly MG, Al-Shorafat DM, Saranza G, Lang AE, Brüggemann N, Tadic V, Klein C, Lohmann K, Brown MJN, Beste C, Münchau A, Bäumer T. Weissbach A, et al. Among authors: saranza g. Mov Disord. 2021 Aug;36(8):1986-1987. doi: 10.1002/mds.28679. Epub 2021 Jun 11. Mov Disord. 2021. PMID: 34114668 No abstract available.
Longitudinal evaluations of somatosensory-motor inhibition in Dopa-responsive dystonia.
Weissbach A, Steinmeier A, Pauly M, Al-Shorafat DM, Saranza G, Lang A, Brüggemann N, Tadic V, Klein C, Münchau A, Bäumer T, Brown MJN. Weissbach A, et al. Among authors: saranza g. Parkinsonism Relat Disord. 2022 Feb;95:40-46. doi: 10.1016/j.parkreldis.2021.12.016. Epub 2022 Jan 4. Parkinsonism Relat Disord. 2022. PMID: 34999542 Free article.
28 results