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1,663 results

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Page 1
Identification of disease phenotypes in acetylcholine receptor-antibody myasthenia gravis using proteomics-based consensus clustering.
Nelke C, Schroeter CB, Barman S, Stascheit F, Masanneck L, Theissen L, Huntemann N, Walli S, Cengiz D, Dobelmann V, Vogelsang A, Pawlitzki M, Räuber S, Konen FF, Skripuletz T, Hartung HP, König S, Roos A, Meisel A, Meuth SG, Ruck T. Nelke C, et al. Among authors: roos a. EBioMedicine. 2024 Jul;105:105231. doi: 10.1016/j.ebiom.2024.105231. Epub 2024 Jul 2. EBioMedicine. 2024. PMID: 38959848 Free PMC article.
Eculizumab treatment alters the proteometabolome beyond the inhibition of complement.
Nelke C, Schroeter CB, Stascheit F, Huntemann N, Pawlitzki M, Willison A, Räuber S, Melzer N, Distler U, Tenzer S, Stühler K, Roos A, Meisel A, Meuth SG, Ruck T. Nelke C, et al. Among authors: roos a. JCI Insight. 2023 Jul 10;8(13):e169135. doi: 10.1172/jci.insight.169135. JCI Insight. 2023. PMID: 37227781 Free PMC article.
Senescent fibro-adipogenic progenitors are potential drivers of pathology in inclusion body myositis.
Nelke C, Schroeter CB, Theissen L, Preusse C, Pawlitzki M, Räuber S, Dobelmann V, Cengiz D, Kleefeld F, Roos A, Schoser B, Brunn A, Neuen-Jacob E, Zschüntzsch J, Meuth SG, Stenzel W, Ruck T. Nelke C, et al. Among authors: roos a. Acta Neuropathol. 2023 Nov;146(5):725-745. doi: 10.1007/s00401-023-02637-2. Epub 2023 Sep 29. Acta Neuropathol. 2023. PMID: 37773216 Free PMC article.
Brain malformations and seizures by impaired chaperonin function of TRiC.
Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, Lee TT, Flex E, Hentschel A, Innes AM, Zheng B, Julia Suh DS, Knopp C, Lausberg E, Krause J, Zhang X, Trapane P, Carroll R, McClatchey M, Fry AE, Wang L, Giesselmann S, Hoang H, Baldridge D, Silverman GA, Radio FC, Bertini E, Ciolfi A, Blood KA, de Sainte Agathe JM, Charles P, Bergant G, Čuturilo G, Peterlin B, Diderich K, Streff H, Robak L, Oegema R, van Binsbergen E, Herriges J, Saunders CJ, Maier A, Wolking S, Weber Y, Lochmüller H, Meyer S, Aleman A, Polavarapu K, Nicolas G, Goldenberg A, Guyant L, Pope K, Hehmeyer KN, Monaghan KG, Quade A, Smol T, Caumes R, Duerinckx S, Depondt C, Van Paesschen W, Rieubland C, Poloni C, Guipponi M, Arcioni S, Meuwissen M, Jansen AC, Rosenblum J, Haack TB, Bertrand M, Gerstner L, Magg J, Riess O, Schulz JB, Wagner N, Wiesmann M, Weis J, Eggermann T, Begemann M, Roos A, Häusler M, Schedl T, Tartaglia M, Bremer J, Pak SC, Frydman J, Elbracht M, Kurth I. Kraft F, et al. Among authors: roos a. Science. 2024 Nov;386(6721):516-525. doi: 10.1126/science.adp8721. Epub 2024 Oct 31. Science. 2024. PMID: 39480921
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
1,663 results