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Documents disponibles écrits par cet auteur (43)
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DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double stranded RNA foci in human cell models of FSHD
Shadle SC, Bennett SR, Wong CJ, et al.
Human molecular genetics, 2019
Clinically advanced p38 inhibitors suppress DUX4 expression in cellular and animal models of facioscapulohumeral muscular dystrophy.
Oliva J, Galasinski S, Richey A, et al.
The Journal of pharmacology and experimental therapeutics, 2019
Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy
Jagannathan S, Ogata Y, Gafken PR, et al.
eLife, 2019
MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD
Wang LH, Wang LH, Friedman SD, et al.
Human molecular genetics, 2018
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
Mul K, Mul K, Lemmers RJLF, et al.
Neurology, 2018
Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures
Lim JW, Wong CJ, Yao Z, et al.
Human molecular genetics, 2018
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
Balog J, Goossens R, Lemmers RJLF, et al.
Journal of medical genetics, 2018
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, 2018, 26, 1, p 94
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
de Greef JC, Krom YD, den Hamer B, et al.
Human molecular genetics, 2018, 27, 4, p 716
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes
Mason AG, Slieker RC, Balog J, et al.
Skeletal Muscle, 2017, 7, 1
Mutations 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
Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells
Jagannathan S, Jagannathan S, Shadle SC, et al.
Human molecular genetics, 2016, 25, 20, p 4419
Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures : Actes de colloque - 29-30 May 2015 Rochester, New York
Tawil R, Padberg GW, Shaw DW, et al.
Neuromuscular disorders : NMD, 2016, 26, 2, p 181
DICER/AGO-dependent Epigenetic Silencing of D4Z4 Repeats Enhanced by Exogenous siRNA Suggests Mechanisms and Therapies for FSHD.
Lim JW, Snider L, Yao Z, et al.
Human molecular genetics, 2015, Epub
Genetic and epigenetic contributors to FSHD.
Daxinger L, Tapscott SJ, van der Maarel SM
Current opinion in genetics & development, 2015, 33, 56-61
Increased 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
Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2
van den Boogaard ML, Lemmers RJLF, Camano P, et al.
European journal of human genetics : EJHG, 2015, 24, 1, p 78
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2
Lemmers RJ, Goeman JJ, van der Vliet PJ, et al.
Human molecular genetics, 2015, 24, 3, p 659
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle
Yao Z, Snider L, Balog J, et al.
Human molecular genetics, 2014, 23, 20, p 5342
Clinical trial preparedness in facioscapulohumeral dystrophy : outcome measures and patient access. 8-9 April 2013, The Netherlands
Tawil R, Shaw DW, van der Maarel SM, et al.
Congrès : Clinical trial preparedness in facioscapulohumeral dystrophy : Outcome measures and patient access (8-9 April 2013; Leiden, The Nethelands)
Neuromuscular disorders : NMD, 2014, 24, 1, p. 79-85
The 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. 744-751
DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis
Young JM, Whiddon JL, Yao Z, et al.
PLoS Genetics, 2013, 9, 11, e1003947, 19 p.
Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD
Krom YD, Thijssen PE, Young JM, et al.
PLoS Genetics, 2013, 9, 4, e1003415, 17 p.
Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient : a cellular model for FSHD
Krom YD, Dumonceaux J, Mamchaoui K, et al.
American journal of pathology (The), 2012, 181, 10, p. 1387-1401
Facioscapulohumeral muscular dystrophy : consequences of chromatin relaxation
van der Maarel SM, Miller DG, Tawil R, et al.
Current opinion in neurology, 2012, 25, 5, p. 614-620
