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A second hotspot for pathogenic exon-skipping variants in CDC45.
Schoch K, Ruegg MSG, Fellows BJ, Cao J, Uhrig S, Einsele-Scholz S, Biskup S, Hawarden SRA, Salpietro V, Capra V; Undiagnosed Diseases Network; Brown CM, Accogli A, Shashi V, Bicknell LS. Schoch K, et al. Among authors: ruegg msg. Eur J Hum Genet. 2024 Jul;32(7):786-794. doi: 10.1038/s41431-024-01583-1. Epub 2024 Mar 11. Eur J Hum Genet. 2024. PMID: 38467731 Free PMC article.
European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain.
Smeets H, Verbrugge B, Bulbena X, Hristova L, Vogt J, van Beckhoven I; all participants; Patient organizations/patient representatives: LAMA2-Europe, Voor Sara-the Netherlands, ImpulsaT-Spain, LAMA2-France, CMD-Turkey, LAMA2-Bulgaria, Cure-CMD. Smeets H, et al. Neuromuscul Disord. 2024 Mar;36:16-22. doi: 10.1016/j.nmd.2024.01.001. Epub 2024 Jan 9. Neuromuscul Disord. 2024. PMID: 38306718
Fully automated sequential immunofluorescence (seqIF) for hyperplex spatial proteomics.
Rivest F, Eroglu D, Pelz B, Kowal J, Kehren A, Navikas V, Procopio MG, Bordignon P, Pérès E, Ammann M, Dorel E, Scalmazzi S, Bruno L, Ruegg M, Campargue G, Casqueiro G, Arn L, Fischer J, Brajkovic S, Joris P, Cassano M, Dupouy D. Rivest F, et al. Among authors: ruegg m. Sci Rep. 2023 Oct 9;13(1):16994. doi: 10.1038/s41598-023-43435-w. Sci Rep. 2023. PMID: 37813886 Free PMC article.
Raptor levels are critical for β-cell adaptation to a high-fat diet in male mice.
Blandino-Rosano M, Louzada RA, Werneck-De-Castro JP, Lubaczeuski C, Almaça J, Rüegg MA, Hall MN, Leibowitz G, Bernal-Mizrachi E. Blandino-Rosano M, et al. Among authors: ruegg ma. Mol Metab. 2023 Sep;75:101769. doi: 10.1016/j.molmet.2023.101769. Epub 2023 Jul 7. Mol Metab. 2023. PMID: 37423392 Free PMC article.
230 results