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Page 1
Dysferlin regulates cell adhesion in human monocytes.
de Morrée A, Flix B, Bagaric I, Wang J, van den Boogaard M, Grand Moursel L, Frants RR, Illa I, Gallardo E, Toes R, van der Maarel SM. de Morrée A, et al. Among authors: van den boogaard m, van der maarel sm. J Biol Chem. 2013 May 17;288(20):14147-14157. doi: 10.1074/jbc.M112.448589. Epub 2013 Apr 4. J Biol Chem. 2013. PMID: 23558685 Free PMC article.
Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.
Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, de Jong A, F Lemmers RJ, Tawil R, Tapscott SJ, van der Maarel SM. Balog J, et al. Among authors: van der maarel sm, van den boogaard ml, van der vliet pj. Epigenetics. 2015;10(12):1133-42. doi: 10.1080/15592294.2015.1113798. Epigenetics. 2015. PMID: 26575099 Free PMC article.
Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.
van den Boogaard ML, Lemmers RJ, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM. van den Boogaard ML, et al. Among authors: van der maarel sm, van engelen bg, van der stoep n, van der vliet pj. Eur J Hum Genet. 2016 Jan;24(1):78-85. doi: 10.1038/ejhg.2015.55. Epub 2015 Mar 18. Eur J Hum Genet. 2016. PMID: 25782668 Free PMC article.
Fusion of hIgG1-Fc to 111In-anti-amyloid single domain antibody fragment VHH-pa2H prolongs blood residential time in APP/PS1 mice but does not increase brain uptake.
Rotman M, Welling MM, van den Boogaard ML, Moursel LG, van der Graaf LM, van Buchem MA, van der Maarel SM, van der Weerd L. Rotman M, et al. Among authors: van buchem ma, van der maarel sm, van der weerd l, van den boogaard ml, van der graaf lm. Nucl Med Biol. 2015 Aug;42(8):695-702. doi: 10.1016/j.nucmedbio.2015.03.003. Epub 2015 Mar 18. Nucl Med Biol. 2015. PMID: 25960433 Free article.
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.
Goossens R, van den Boogaard ML, Lemmers RJLF, Balog J, van der Vliet PJ, Willemsen IM, Schouten J, Maggio I, van der Stoep N, Hoeben RC, Tapscott SJ, Geijsen N, Gonçalves MAFV, Sacconi S, Tawil R, van der Maarel SM. Goossens R, et al. Among authors: van der maarel sm, van den boogaard ml, van der stoep n, van der vliet pj. J Med Genet. 2019 Dec;56(12):828-837. doi: 10.1136/jmedgenet-2019-106402. Epub 2019 Nov 1. J Med Genet. 2019. PMID: 31676591
Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.
Lemmers RJ, van den Boogaard ML, van der Vliet PJ, Donlin-Smith CM, Nations SP, Ruivenkamp CA, Heard P, Bakker B, Tapscott S, Cody JD, Tawil R, van der Maarel SM. Lemmers RJ, et al. Among authors: van der maarel sm, van den boogaard ml, van der vliet pj. Hum Mutat. 2015 Jul;36(7):679-83. doi: 10.1002/humu.22792. Epub 2015 May 20. Hum Mutat. 2015. PMID: 25820463 Free PMC article.
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM. van den Boogaard ML, et al. Among authors: van der kooi el, van tol mjd, van der maarel sm, van engelen bgm, van den akker rfp, van ostaijen ten dam mm, van der vliet pj. Am J Hum Genet. 2016 May 5;98(5):1020-1029. doi: 10.1016/j.ajhg.2016.03.013. Am J Hum Genet. 2016. PMID: 27153398 Free PMC article.
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.
Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM Jr, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM. Mul K, et al. Among authors: van der maarel sm, van engelen bgm, van den boogaard ml, van der vliet pj. Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6. Neurology. 2018. PMID: 29980640 Free PMC article.
Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.
Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, de Jong A, Lemmers RJ, Tawil R, Tapscott SJ, van der Maarel SM. Balog J, et al. Among authors: van der maarel sm, van den boogaard ml, van der vliet pj. Epigenetics. 2016;11(2):175. doi: 10.1080/15592294.2016.1161273. Epigenetics. 2016. PMID: 27058812 Free PMC article. No abstract available.
255 results