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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1.
Eur J Hum Genet. 2021.
PMID: 34075208
Free PMC article.
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.
Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium.
Lochmüller H, et al. Among authors: harmuth t.
Eur J Hum Genet. 2018 Jun;26(6):778-785. doi: 10.1038/s41431-018-0115-5. Epub 2018 Feb 27.
Eur J Hum Genet. 2018.
PMID: 29487416
Free PMC article.
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Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium.
Zurek B, et al. Among authors: harmuth t.
Eur J Hum Genet. 2021 Sep;29(9):1459-1461. doi: 10.1038/s41431-021-00936-4.
Eur J Hum Genet. 2021.
PMID: 34385672
Free PMC article.
No abstract available.
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Mitochondrial Dysfunction in Spinocerebellar Ataxia Type 3 Is Linked to VDAC1 Deubiquitination.
Harmuth T, Weber JJ, Zimmer AJ, Sowa AS, Schmidt J, Fitzgerald JC, Schöls L, Riess O, Hübener-Schmid J.
Harmuth T, et al.
Int J Mol Sci. 2022 May 25;23(11):5933. doi: 10.3390/ijms23115933.
Int J Mol Sci. 2022.
PMID: 35682609
Free PMC article.
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Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3.
Harmuth T, Prell-Schicker C, Weber JJ, Gellerich F, Funke C, Drießen S, Magg JCD, Krebiehl G, Wolburg H, Hayer SN, Hauser S, Krüger R, Schöls L, Riess O, Hübener-Schmid J.
Harmuth T, et al.
Front Mol Neurosci. 2018 Oct 10;11:368. doi: 10.3389/fnmol.2018.00368. eCollection 2018.
Front Mol Neurosci. 2018.
PMID: 30364204
Free PMC article.
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Neurodegenerative phosphoprotein signaling landscape in models of SCA3.
Sowa AS, Popova TG, Harmuth T, Weber JJ, Pereira Sena P, Schmidt J, Hübener-Schmid J, Schmidt T.
Sowa AS, et al. Among authors: harmuth t.
Mol Brain. 2021 Mar 19;14(1):57. doi: 10.1186/s13041-020-00723-0.
Mol Brain. 2021.
PMID: 33741019
Free PMC article.
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Mass spectrometry analyses of normal and polyglutamine expanded ataxin-3 reveal novel interaction partners involved in mitochondrial function.
Kristensen LV, Oppermann FS, Rauen MJ, Fog K, Schmidt T, Schmidt J, Harmuth T, Hartmann-Petersen R, Thirstrup K.
Kristensen LV, et al. Among authors: harmuth t.
Neurochem Int. 2018 Jan;112:5-17. doi: 10.1016/j.neuint.2017.10.013. Epub 2017 Oct 27.
Neurochem Int. 2018.
PMID: 29111377
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