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Balog J, Goossens R, Lemmers RJLF, et al.
Journal of medical genetics, 2018, Epub, 10 p.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, et al.
European journal of human genetics : EJHG, 2017, Epub, spMutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
van den Boogaard ML, Lemmers RJ, Balog J, et al.
American journal of human genetics, 2016, 98, 5, p. 1020-1029Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.
Balog J, Thijssen PE, Shadle S, et al.
Epigenetics, 2015, 10, 12, p. 1133-1142The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1
Sacconi S, Lemmers RJLF, Balog J, et al.
American journal of human genetics (The), 2013, 93, 4, p. 744-751MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4
Huijbers MG, Zhang W, Klooster R, et al.
Proceedings of the national Academy of sciences of the United States of America, 2013, Epub ahead of print 2013 Dec 2, p. 1-6Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Lemmers RJ, Tawil R, Petek LM, et al.
Nature genetics, 2012, 44, 12, p. 1370-1374Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice
Klooster R, Plomp JJ, Huijbers MG, et al.
Brain, 2012, 135, 4, p. 1081-1101Long-lasting treatment effect of rituximab in MuSK myasthenia
Diaz-Manera J, Martinez-Hernandez E, Querol L, et al.
Neurology, 2012, 78, 3, p. 189-193A unifying genetic model for facioscapulohumeral muscular dystrophy
Lemmers RJLF, van der Vliet PJ, Klooster R, et al.
Science, 2010, 329, 5999, p. 1650-1653FRG1P-mediated aggregation of proteins involved in pre-mRNA processing
van Koningsbruggen S, Straasheijm KR, Sterrenburg E, et al.
Chromosoma, 2006, 116, 1, p. 53-64
