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Year Number of Results
2012 1
2014 1
2015 3
2016 1
2018 4
2019 2
2020 2
2021 1
2023 3
2024 1

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18 results

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Page 1
Genetic and epigenetic contributors to FSHD.
Daxinger L, Tapscott SJ, van der Maarel SM. Daxinger L, et al. Curr Opin Genet Dev. 2015 Aug;33:56-61. doi: 10.1016/j.gde.2015.08.007. Epub 2015 Sep 7. Curr Opin Genet Dev. 2015. PMID: 26356006 Free PMC article. Review.
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.
Tapia Del Fierro A, den Hamer B, Benetti N, Jansz N, Chen K, Beck T, Vanyai H, Gurzau AD, Daxinger L, Xue S, Ly TTN, Wanigasuriya I, Iminitoff M, Breslin K, Oey H, Krom YD, van der Hoorn D, Bouwman LF, Johanson TM, Ritchie ME, Gouil QA, Reversade B, Prin F, Mohun T, van der Maarel SM, McGlinn E, Murphy JM, Keniry A, de Greef JC, Blewitt ME. Tapia Del Fierro A, et al. Nat Commun. 2023 Sep 25;14(1):5466. doi: 10.1038/s41467-023-40992-6. Nat Commun. 2023. PMID: 37749075 Free PMC article.
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM. Lemmers RJLF, et al. Brain. 2024 Feb 1;147(2):414-426. doi: 10.1093/brain/awad312. Brain. 2024. PMID: 37703328 Free PMC article.
FSHD1 and FSHD2 form a disease continuum.
Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM. Sacconi S, et al. Neurology. 2019 May 7;92(19):e2273-e2285. doi: 10.1212/WNL.0000000000007456. Epub 2019 Apr 12. Neurology. 2019. PMID: 30979860 Free PMC article.
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM. Balog J, et al. J Med Genet. 2018 Jul;55(7):469-478. doi: 10.1136/jmedgenet-2017-105153. Epub 2018 Mar 21. J Med Genet. 2018. PMID: 29563141 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. Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6. Neurology. 2018. PMID: 29980640 Free PMC article.
18 results