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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. Among authors: van der pol l, van der maarel sm, van engelen b, van der stoep n, van den bergh p, van der vliet pj. Brain. 2024 Feb 1;147(2):414-426. doi: 10.1093/brain/awad312. Brain. 2024. PMID: 37703328 Free PMC article.
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy.
van Koningsbruggen S, de Haard H, de Kievit P, Dirks RW, van Remoortere A, Groot AJ, van Engelen BG, den Dunnen JT, Verrips CT, Frants RR, van der Maarel SM. van Koningsbruggen S, et al. Among authors: van der maarel sm, van engelen bg, van remoortere a. J Immunol Methods. 2003 Aug;279(1-2):149-61. doi: 10.1016/s0022-1759(03)00232-1. J Immunol Methods. 2003. PMID: 12969556
Recurrent neuropathy associated with Ehlers-Danlos syndrome.
Voermans NC, Drost G, van Kampen A, Gabreëls-Festen AA, Lammens M, Hamel BC, Schalkwijk J, van Engelen BG. Voermans NC, et al. Among authors: van kampen a, van engelen bg. J Neurol. 2006 May;253(5):670-1. doi: 10.1007/s00415-005-0056-0. Epub 2005 Nov 29. J Neurol. 2006. PMID: 16311893 No abstract available.
No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy.
van der Kooi EL, de Greef JC, Wohlgemuth M, Frants RR, van Asseldonk RJ, Blom HJ, van Engelen BG, van der Maarel SM, Padberg GW. van der Kooi EL, et al. Among authors: van der maarel sm, van asseldonk rj, van engelen bg. Neuromuscul Disord. 2006 Nov;16(11):766-9. doi: 10.1016/j.nmd.2006.08.005. Epub 2006 Sep 26. Neuromuscul Disord. 2006. PMID: 17005397 Free article.
574 results