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Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice
Bouwman LF, den Hamer B, Verveer EP, et al.
Skeletal Muscle, 2020, 10, 1, p 27
Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy
Hamanaka K, Sikrova D, Mitsuhashi S, et al.
Neurology, 2020, 94, 23
Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy
Lassche S, Voermans NC, van der Pijl R, et al.
Neurology, 2020, 94, 11, p e1157
Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy
Greco A, Goossens R, van Engelen B, et al.
Clinical genetics, 2020
Ophthalmological findings in facioscapulohumeral dystrophy
Goselink RJM, Schreur V, van Kernebeek CR, et al.
Brain communications, 2020, 1, 1
The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy
Bouwman LF, van der Maarel SM, de Greef JC
Current opinion in neurology, 2020, 33, 5, p 635
Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study
Peterlin B, Gualandi F, Maver A, et al.
PLoS ONE, 2020, 15, 9
MRI Correlates with Electrical Impedance Myography in Facioscapulohumeral Muscular Dystrophy
Hamel J, Lee P, Glenn MD, et al.
Muscle & Nerve, 2019
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
Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients
van der Wal E, den Hamer B, van der Vliet PJ, et al.
Stem cell research, 2019, 40
Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations
Voermans NC, van der Bilt RC, IJspeert J, et al.
Journal of neurology, 2019
A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1
Wohlgemuth M, Lemmers RJ, Jonker M, et al.
Neurology, 2019, 91, 5
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Lemmers RJLF, van der Stoep N, Vliet PJV, et al.
Journal of medical genetics, 2019
FSHD1 and FSHD2 form a disease continuum
Sacconi S, Briand-Suleau A, Gros M, et al.
Neurology, 2019, 92, 19
Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy
Goselink RJM, Goselink RJM, Mul K, et al.
Neurology, 2019, 92, 4
A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1.
Wohlgemuth M, Lemmers RJ, Jonker M, et al.
Neurology, 2018, 91, 5, p. 444-454
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
A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy
Goselink RJM, van Kernebeek CR, Mul K, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2018
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
Balog J, Goossens R, Lemmers RJLF, et al.
Journal of medical genetics, 2018
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
Goselink RJM, Goselink RJM, Schreuder THA, et al.
Annals of neurology, 2018, 84, 5, p 627
Passive transfer models of myasthenia gravis with muscle-specific kinase antibodies
Verschuuren JJGM, Plomp JJ, Burden SJ, et al.
Annals of the New York Academy of Sciences, 2018, 1413, 1, p 111
Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1
Mul K, Mul K, Voermans NC, et al.
Clinical genetics, 2018, 94, 6, p 521
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
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2
Lemmers RJLF, van der Vliet PJ, Vreijling JP, et al.
Human molecular genetics, 2018, 27, 20, p 3488
