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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2018 1
2019 1
2020 4
2021 4
2022 3
2023 1

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12 results

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Page 1
Nerve Ultrasound as Helpful Tool in Polyneuropathies.
Kramer M, Grimm A, Winter N, Dörner M, Grundmann-Hauser K, Stahl JH, Wittlinger J, Kegele J, Kronlage C, Willikens S. Kramer M, et al. Among authors: grundmann hauser k. Diagnostics (Basel). 2021 Jan 31;11(2):211. doi: 10.3390/diagnostics11020211. Diagnostics (Basel). 2021. PMID: 33572591 Free PMC article. Review.
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Hsieh TC, Bar-Haim A, Moosa S, Ehmke N, Gripp KW, Pantel JT, Danyel M, Mensah MA, Horn D, Rosnev S, Fleischer N, Bonini G, Hustinx A, Schmid A, Knaus A, Javanmardi B, Klinkhammer H, Lesmann H, Sivalingam S, Kamphans T, Meiswinkel W, Ebstein F, Krüger E, Küry S, Bézieau S, Schmidt A, Peters S, Engels H, Mangold E, Kreiß M, Cremer K, Perne C, Betz RC, Bender T, Grundmann-Hauser K, Haack TB, Wagner M, Brunet T, Bentzen HB, Averdunk L, Coetzer KC, Lyon GJ, Spielmann M, Schaaf CP, Mundlos S, Nöthen MM, Krawitz PM. Hsieh TC, et al. Among authors: grundmann hauser k. Nat Genet. 2022 Mar;54(3):349-357. doi: 10.1038/s41588-021-01010-x. Epub 2022 Feb 10. Nat Genet. 2022. PMID: 35145301 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
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.
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.
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. Among authors: grundmann hauser k. 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.
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. Among authors: grundmann hauser k. Neurobiol Dis. 2020 Feb;134:104634. doi: 10.1016/j.nbd.2019.104634. Epub 2019 Oct 31. Neurobiol Dis. 2020. PMID: 31678405 Free article.
Dynamic nuclear envelope phenotype in rats overexpressing mutated human torsinA protein.
Yu-Taeger L, Gaiser V, Lotzer L, Roenisch T, Fabry BT, Stricker-Shaver J, Casadei N, Walter M, Schaller M, Riess O, Nguyen HP, Ott T, Grundmann-Hauser K. Yu-Taeger L, et al. Among authors: grundmann hauser k. Biol Open. 2018 Jul 23;7(7):bio032839. doi: 10.1242/bio.032839. Biol Open. 2018. PMID: 29739751 Free PMC article.
Peripheral nerve injury elicits microstructural and neurochemical changes in the striatum and substantia nigra of a DYT-TOR1A mouse model with dystonia-like movements.
Rauschenberger L, Krenig EM, Stengl A, Knorr S, Harder TH, Steeg F, Friedrich MU, Grundmann-Hauser K, Volkmann J, Ip CW. Rauschenberger L, et al. Among authors: grundmann hauser k. Neurobiol Dis. 2023 Apr;179:106056. doi: 10.1016/j.nbd.2023.106056. Epub 2023 Feb 28. Neurobiol Dis. 2023. PMID: 36863527 Free article.
12 results