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

Year Number of Results
2002 1
2003 3
2004 4
2005 1
2006 1
2007 3
2008 2
2009 2
2010 5
2011 4
2012 1
2013 4
2014 1
2015 1
2016 5
2017 1
2018 2
2019 1
2020 2
2021 3
2022 1
2023 1
2024 0

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48 results

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Page 1
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Himmelreich N, Kikul F, Zdrazilova L, Honzik T, Hecker A, Poschet G, Lüchtenborg C, Brügger B, Strahl S, Bürger F, Okun JG, Hansikova H, Thiel C. Himmelreich N, et al. Among authors: strahl s. Mol Genet Metab. 2023 Jul;139(3):107610. doi: 10.1016/j.ymgme.2023.107610. Epub 2023 May 16. Mol Genet Metab. 2023. PMID: 37245379
Protein Mannosylation as a Diagnostic and Prognostic Biomarker of Lupus Nephritis: An Unusual Glycan Neoepitope in Systemic Lupus Erythematosus.
Alves I, Santos-Pereira B, Dalebout H, Santos S, Vicente MM, Campar A, Thepaut M, Fieschi F, Strahl S, Boyaval F, Vizcaíno R, Silva R, Holst-Bernal S, Vasconcelos C, Santos L, Wuhrer M, Marinho A, Heijs B, Pinho SS. Alves I, et al. Among authors: strahl s. Arthritis Rheumatol. 2021 Nov;73(11):2069-2077. doi: 10.1002/art.41768. Epub 2021 Sep 28. Arthritis Rheumatol. 2021. PMID: 33881228
Functional implications of MIR domains in protein O-mannosylation.
Chiapparino A, Grbavac A, Jonker HR, Hackmann Y, Mortensen S, Zatorska E, Schott A, Stier G, Saxena K, Wild K, Schwalbe H, Strahl S, Sinning I. Chiapparino A, et al. Among authors: strahl s. Elife. 2020 Dec 24;9:e61189. doi: 10.7554/eLife.61189. Elife. 2020. PMID: 33357379 Free PMC article.
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects.
Görlacher M, Panagiotou E, Himmelreich N, Hüllen A, Beedgen L, Dimitrov B, Geiger V, Zielonka M, Peters V, Strahl S, Vázquez-Jiménez J, Kerst G, Thiel C. Görlacher M, et al. Among authors: strahl s. Mol Genet Metab Rep. 2020 Nov 7;25:100673. doi: 10.1016/j.ymgmr.2020.100673. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33209585 Free PMC article.
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Lüchtenborg C, Okun JG, Breuer M, Hutter AM, Carl M, Guglielmi L, Hellwig A, Thiemann KC, Jost M, Peters V, Staufner C, Hoffmann GF, Hackenberg A, Paramasivam N, Wiemann S, Eils R, Schlesner M, Strahl S, Brügger B, Wuhrer M, Christoph Korenke G, Thiel C. Dimitrov B, et al. Among authors: strahl s. Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29396028
48 results