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Items: 9

1.

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.

Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6.

2.

Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.

van den Boogaard ML, Thijssen PE, Aytekin C, Licciardi F, Kıykım AA, Spossito L, Dalm VASH, Driessen GJ, Kersseboom R, de Vries F, van Ostaijen-Ten Dam MM, Ikinciogullari A, Dogu F, Oleastro M, Bailardo E, Daxinger L, Nain E, Baris S, van Tol MJD, Weemaes C, van der Maarel SM.

Clin Genet. 2017 Oct;92(4):380-387. doi: 10.1111/cge.12979. Epub 2017 Mar 7.

PMID:
28128455
3.

Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy.

Mul K, van den Boogaard ML, van der Maarel SM, van Engelen BG.

Curr Opin Neurol. 2016 Oct;29(5):606-13. doi: 10.1097/WCO.0000000000000360. Review.

PMID:
27389814
4.

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.

Am J Hum Genet. 2016 May 5;98(5):1020-1029. doi: 10.1016/j.ajhg.2016.03.013.

5.

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.

Epigenetics. 2016;11(2):175. doi: 10.1080/15592294.2016.1161273. No abstract available.

6.

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.

Epigenetics. 2015;10(12):1133-42. doi: 10.1080/15592294.2015.1113798. Erratum in: Epigenetics. 2016;11(2):175.

7.

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.

Nucl Med Biol. 2015 Aug;42(8):695-702. doi: 10.1016/j.nucmedbio.2015.03.003. Epub 2015 Mar 18.

8.

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.

Hum Mutat. 2015 Jul;36(7):679-83. doi: 10.1002/humu.22792. Epub 2015 May 20.

9.

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.

Eur J Hum Genet. 2016 Jan;24(1):78-85. doi: 10.1038/ejhg.2015.55. Epub 2015 Mar 18.

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