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Page 1
Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo.
Cheng F, Zheng W, Liu C, Barbuti PA, Yu-Taeger L, Casadei N, Huebener-Schmid J, Admard J, Boldt K, Junger K, Ueffing M, Houlden H, Sharma M, Kruger R, Grundmann-Hauser K, Ott T, Riess O. Cheng F, et al. Among authors: grundmann hauser k. Sci Adv. 2022 Nov 25;8(47):eabq6324. doi: 10.1126/sciadv.abq6324. Epub 2022 Nov 23. Sci Adv. 2022. PMID: 36417521 Free PMC article.
Impaired dopamine- and adenosine-mediated signaling and plasticity in a novel rodent model for DYT25 dystonia.
Yu-Taeger L, Ott T, Bonsi P, Tomczak C, Wassouf Z, Martella G, Sciamanna G, Imbriani P, Ponterio G, Tassone A, Schulze-Hentrich JM, Goodchild R, Riess O, Pisani A, Grundmann-Hauser K, Nguyen HP. Yu-Taeger L, et al. Neurobiol Dis. 2020 Feb;134:104634. doi: 10.1016/j.nbd.2019.104634. Epub 2019 Oct 31. Neurobiol Dis. 2020. PMID: 31678405 Free article.
Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.
Cheng F, Walter M, Wassouf Z, Hentrich T, Casadei N, Schulze-Hentrich J, Barbuti P, Krueger R, Riess O, Grundmann-Hauser K, Ott T. Cheng F, et al. J Mol Neurosci. 2020 Jul;70(7):999-1008. doi: 10.1007/s12031-020-01490-2. Epub 2020 Feb 28. J Mol Neurosci. 2020. PMID: 32112337 Free PMC article.
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
Cheng F, Zheng W, Barbuti PA, Bonsi P, Liu C, Casadei N, Ponterio G, Meringolo M, Admard J, Dording CM, Yu-Taeger L, Nguyen HP, Grundmann-Hauser K, Ott T, Houlden H, Pisani A, Krüger R, Riess O. Cheng F, et al. Among authors: grundmann hauser k. Brain. 2022 Nov 21;145(11):3968-3984. doi: 10.1093/brain/awac001. Brain. 2022. PMID: 35015830
The evolution of dystonia-like movements in TOR1A rats after transient nerve injury is accompanied by dopaminergic dysregulation and abnormal oscillatory activity of a central motor network.
Knorr S, Rauschenberger L, Pasos UR, Friedrich MU, Peach RL, Grundmann-Hauser K, Ott T, O'Leary A, Reif A, Tovote P, Volkmann J, Ip CW. Knorr S, et al. Among authors: grundmann hauser k. Neurobiol Dis. 2021 Jul;154:105337. doi: 10.1016/j.nbd.2021.105337. Epub 2021 Mar 19. Neurobiol Dis. 2021. PMID: 33753289 Free article.
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Nanetti L, Kearney M, Boesch S, Stovickova L, Ortigoza-Escobar JD, Macaya A, Gomez-Andres D, Roze E, Molnar MJ, Wolf NI, Darling A, Vasco G, Bertini E, Indelicato E, Neubauer D, Haack TB, Sagi JC, Danti FR, Sival D, Zanni G, Kolk A, Boespflug-Tanguy O, Schols L, van de Warrenburg B, Vidailhet M, Willemsen MA, Buizer AI, Orzes E, Ripp S, Reinhard C, Moroni I, Mariotti C; ERN-RND Working Group for Management of Transition. Nanetti L, et al. Neurol Sci. 2024 Mar;45(3):1007-1016. doi: 10.1007/s10072-023-07101-3. Epub 2023 Oct 19. Neurol Sci. 2024. PMID: 37853291
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.
Pauly MG, Hellenbroich Y, Grundmann-Hauser K, Hinrichs F, Lohmann K, Brüggemann N. Pauly MG, et al. Among authors: grundmann hauser k. Mov Disord Clin Pract. 2021 Jun 14;8(6):972-976. doi: 10.1002/mdc3.13258. eCollection 2021 Aug. Mov Disord Clin Pract. 2021. PMID: 34405109 Free PMC article. No abstract available.
14 results