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Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).
Goselink RJ, Schreuder TH, Mul K, Voermans NC, Pelsma M, de Groot IJ, van Alfen N, Franck B, Theelen T, Lemmers RJ, Mah JK, van der Maarel SM, van Engelen BG, Erasmus CE. Goselink RJ, et al. BMC Neurol. 2016 Aug 17;16:138. doi: 10.1186/s12883-016-0664-6. BMC Neurol. 2016. PMID: 27530735 Free PMC article. Clinical Trial.
Adding quantitative muscle MRI to the FSHD clinical trial toolbox.
Mul K, Vincenten SCC, Voermans NC, Lemmers RJLF, van der Vliet PJ, van der Maarel SM, Padberg GW, Horlings CGC, van Engelen BGM. Mul K, et al. Among authors: van der maarel sm, van engelen bgm, van der vliet pj. Neurology. 2017 Nov 14;89(20):2057-2065. doi: 10.1212/WNL.0000000000004647. Epub 2017 Oct 13. Neurology. 2017. PMID: 29030457 Free PMC article.
Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.
Lemmers RJ, van der Vliet PJ, Balog J, Goeman JJ, Arindrarto W, Krom YD, Straasheijm KR, Debipersad RD, Özel G, Sowden J, Snider L, Mul K, Sacconi S, van Engelen B, Tapscott SJ, Tawil R, van der Maarel SM. Lemmers RJ, et al. Eur J Hum Genet. 2018 Jan;26(1):94-106. doi: 10.1038/s41431-017-0015-0. Epub 2017 Nov 21. Eur J Hum Genet. 2018. PMID: 29162933 Free PMC article.
549 results