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Page 1
DUX4 expression in cancer induces a metastable early embryonic totipotent program.
Smith AA, Nip Y, Bennett SR, Hamm DC, Lemmers RJLF, van der Vliet PJ, Setty M, van der Maarel SM, Tapscott SJ. Smith AA, et al. Among authors: van der maarel sm, van der vliet pj. Cell Rep. 2023 Sep 26;42(9):113114. doi: 10.1016/j.celrep.2023.113114. Epub 2023 Sep 8. Cell Rep. 2023. PMID: 37691147 Free PMC article.
Development and characterization of agonistic antibodies targeting the Ig-like 1 domain of MuSK.
Lim JL, Augustinus R, Plomp JJ, Roya-Kouchaki K, Vergoossen DLE, Fillié-Grijpma Y, Struijk J, Thomas R, Salvatori D, Steyaert C, Blanchetot C, Vanhauwaert R, Silence K, van der Maarel SM, Verschuuren JJ, Huijbers MG. Lim JL, et al. Among authors: van der maarel sm. Sci Rep. 2023 May 8;13(1):7478. doi: 10.1038/s41598-023-32641-1. Sci Rep. 2023. PMID: 37156800 Free PMC article.
Autoantibody subclass predominance is not driven by aberrant class switching or impaired B cell development.
Paardekooper LM, Fillié-Grijpma YE, van der Sluijs-Gelling AJ, Zlei M, van Doorn R, Vermeer MH, Paunovic M, Titulaer MJ, van der Maarel SM, van Dongen JJM, Verschuuren JJ, Huijbers MG; T2B consortium. Paardekooper LM, et al. Among authors: van der maarel sm. Clin Immunol. 2023 Dec;257:109817. doi: 10.1016/j.clim.2023.109817. Epub 2023 Nov 2. Clin Immunol. 2023. PMID: 37925120 Free article.
Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy.
Franken M, van der Wal E, Zheng D, den Hamer B, van der Vliet PJ, Lemmers RJLF, van den Heuvel A, Dorn AL, Duivenvoorden CGA, In't Groen SLM, Freund C, Eussen B, Tawil R, van Engelen BGM, Pijnappel PWWMP, van der Maarel SM, de Greef JC. Franken M, et al. Among authors: van der maarel sm. Brain. 2024 Nov 18:awae379. doi: 10.1093/brain/awae379. Online ahead of print. Brain. 2024. PMID: 39556762
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Giardina E, Camaño P, Burton-Jones S, Ravenscroft G, Henning F, Magdinier F, van der Stoep N, van der Vliet PJ, Bernard R, Tomaselli PJ, Davis MR, Nishino I, Oflazer P, Race V, Vishnu VY, Williams V, Sobreira CFR, van der Maarel SM, Moore SA, Voermans NC, Lemmers RJLF. Giardina E, et al. Among authors: van der maarel sm. Clin Genet. 2024 Jul;106(1):13-26. doi: 10.1111/cge.14533. Epub 2024 Apr 29. Clin Genet. 2024. PMID: 38685133 Review.
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.
Vishnu VY, Lemmers RJLF, Reyaz A, Mishra R, Ahmad T, van der Vliet PJ, Kretkiewicz MM, Macken WL, Efthymiou S, Dominik N, Morrow JM, Bhatia R, Wilson LA, Houlden H, Hanna MG, Bugiardini E, van der Maarel SM, Srivastava MVP. Vishnu VY, et al. Among authors: van der maarel sm. Eur J Hum Genet. 2024 Sep;32(9):1053-1064. doi: 10.1038/s41431-024-01577-z. Epub 2024 Apr 25. Eur J Hum Genet. 2024. PMID: 38664571 Free PMC article.
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.
Wong CJ, Friedman SD, Snider L, Bennett SR, Jones TI, Jones PL, Shaw DWW, Blemker SS, Riem L, DuCharme O, Lemmers RJFL, van der Maarel SM, Wang LH, Tawil R, Statland JM, Tapscott SJ. Wong CJ, et al. Among authors: van der maarel sm. Hum Mol Genet. 2024 Apr 8;33(8):698-708. doi: 10.1093/hmg/ddae007. Hum Mol Genet. 2024. PMID: 38268317
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Efthymiou S, Lemmers RJLF, Vishnu VY, Dominik N, Perrone B, Facchini S, Vegezzi E, Ravaglia S, Wilson L, van der Vliet PJ, Mishra R, Reyaz A, Ahmad T, Bhatia R, Polke JM, Srivastava MP, Cortese A, Houlden H, van der Maarel SM, Hanna MG, Bugiardini E. Efthymiou S, et al. Among authors: van der maarel sm. Biomolecules. 2023 Oct 24;13(11):1567. doi: 10.3390/biom13111567. Biomolecules. 2023. PMID: 38002249 Free PMC article.
237 results