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Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I.
Puma A, Tammam G, Ezaru A, Slioui A, Torchia E, Tasca G, Villa L, Cavalli M, Salviati L, van der Vliet PJ, Lemmers RJ, Pini J, van der Maarel SM, Sacconi S. Puma A, et al. Among authors: van der maarel sm. Eur J Hum Genet. 2025 Jan 7. doi: 10.1038/s41431-024-01770-0. Online ahead of print. Eur J Hum Genet. 2025. PMID: 39775061
Diagnostic challenges in facioscapulohumeral muscular dystrophy.
Sacconi S, Salviati L, Bourget I, Figarella D, Péréon Y, Lemmers R, van der Maarel S, Desnuelle C. Sacconi S, et al. Neurology. 2006 Oct 24;67(8):1464-6. doi: 10.1212/01.wnl.0000240071.62540.6f. Neurology. 2006. PMID: 17060574
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.
Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM. Lemmers RJ, et al. Among authors: van der maarel sm, van teijlingen cm, van der gaag kj, van der vliet pj. Am J Hum Genet. 2007 Nov;81(5):884-94. doi: 10.1086/521986. Epub 2007 Sep 7. Am J Hum Genet. 2007. PMID: 17924332 Free PMC article.
Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.
Lemmers RJ, van der Vliet PJ, van der Gaag KJ, Zuniga S, Frants RR, de Knijff P, van der Maarel SM. Lemmers RJ, et al. Among authors: van der maarel sm, van der gaag kj, van der vliet pj. Am J Hum Genet. 2010 Mar 12;86(3):364-77. doi: 10.1016/j.ajhg.2010.01.035. Epub 2010 Mar 4. Am J Hum Genet. 2010. PMID: 20206332 Free PMC article.
A unifying genetic model for facioscapulohumeral muscular dystrophy.
Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. Lemmers RJ, et al. Among authors: van der maarel sm, van ommen gj, van der vliet pj. Science. 2010 Sep 24;329(5999):1650-3. doi: 10.1126/science.1189044. Epub 2010 Aug 19. Science. 2010. PMID: 20724583 Free PMC article.
246 results