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Maarel, S.M. van der
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Lemmers, R.J.L.F.
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Greef, J.C. de; Krom, Y.D.; Hamer, B. den; Snider, L.; Hiramuki, Y.; Akker, R.F.P. van den; ... ; Maarel, S.M. van der
2018
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
Article / Letter to editor
open access
2019-02-15T00:00:00Z
Lemmers, R.J.L.F.; Vliet, P.J. van der; Balog, J.; Goeman, J.J.; Arindrarto, W.; Krom, Y.D.; ... ; Maarel, S.M. van der
2018
Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2
Article / Letter to editor
open access
Brinks, J.; Dijk, E.H.C. van; Habeeb, M.; Nikolaou, A.; Tsonaka, R.; Peters, H.A.B.; ... ; Boon, C.J.F.
2018
The effect of corticosteroids on human choroidal endothelial cells: a model to study central serous chorioretinopathy
Article / Letter to editor
metadata only
Luijk, R.; Wu, H.Y.; Ward-Caviness, C.K.; Hannon, E.; Carnero-Montoro, E.; Min, J.L.; ... ; BIOS Consortium
2018
Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation
Article / Letter to editor
metadata only
Mul, K.; Vincenten, S.C.C.; Voermans, N.C.; Lemmers, R.J.L.F.; Vliet, P.J. van der; Maarel, S.M. van der; ... ; Engelen, B.G.M. van
2017
Adding quantitative muscle MRI to the FSHD clinical trial toolbox
Article / Letter to editor
metadata only
Boogaard, M.L. van den; Thijssen, P.E.; Aytekin, C.; Licciardi, F.; Kiykim, A.A.; Spossito, L.; ... ; Maarel, S.M. van der
2017
Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2
Article / Letter to editor
metadata only
Campbell, A.E.; Oliva, J.; Yates, M.P.; Zhong, J.W.; Shadle, S.C.; Snider, L.; ... ; Sverdrup, F.M.
2017
BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells
Article / Letter to editor
metadata only
Wohlgemuth, M.; Horlings, C.G.C.; Kooi, E.L. van der; Gilhuis, H.J.; Hendriks, J.C.M.; Maarel, S.M. van der; ... ; Padberg, G.W.
2017
Respiratory function in facioscapulohumeral muscular dystrophy
Article / Letter to editor
metadata only
Mason, A.G.; Slieker, R.C.; Balog, J.; Lemmers, R.J.L.F.; Wong, C.J.; Yao, Z.Z.; ... ; Maarel, S.M. van der
2017
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes
Article / Letter to editor
metadata only
Shadle, S.C.; Zhong, J.W.; Campbell, A.E.; Conerly, M.L.; Jagannathan, S.; Wong, C.J.; ... ; Tapscott, S.J.
2017
DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy
Article / Letter to editor
metadata only
Koneczny, I.; Stevens, J.A.A.; Rosa, A. de; Huda, S.; Huijbers, M.G.; Saxena, A.; ... ; Losen, M.
2017
IgG4 autoantibodies against muscle-specific kinase undergo Fab-arm exchange in myasthenia gravis patients
Article / Letter to editor
open access
Mul, K.; Boogaard, M.L. van den; Maarel, S.M. van der; Engelen, B.G.M. van
2016
Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy
Article / Letter to editor
metadata only
Jagannathan, S.; Shadle, S.C.; Resnick, R.; Snider, L.; Tawil, R.N.; Maarel, S.M. van der; ... ; Tapscott, S.J.
2016
Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells
Article / Letter to editor
metadata only
Knopp, P.; Krom, Y.D.; Banerji, C.R.S.; Panamarova, M.; Moyle, L.A.; Hamer, B. den; ... ; Zammit, P.S.
2016
DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis
Article / Letter to editor
metadata only
Wu, H.Y.; Thijssen, P.E.; Klerk, E. de; Vonk, K.K.D.; Wang, J.; Hamer, B. den; ... ; Daxinger, L.
2016
Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals
Article / Letter to editor
metadata only
Goselink, R.J.M.; Schreuder, T.H.A.; Mul, K.; Voermans, N.C.; Pelsma, M.; Groot, I.J.M. de; ... ; Erasmus, C.E.
2016
Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)
Article / Letter to editor
metadata only
Huijbers, M.G.; Niks, E.H.; Klooster, R.; Visser, M. de; Kuks, J.B.; Veldink, J.H.; ... ; Verschuuren, J.J.
2016
Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis
Article / Letter to editor
metadata only
Calandra, P.; Cascino, I.; Lemmers, R.J.L.F.; Galluzzi, G.; Teveroni, E.; Monforte, M.; ... ; Deidda, G.
2016
Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2
Article / Letter to editor
metadata only
Boogaard, M.L. van den; Lemmers, R.J.L.F.; Balog, J.; Wohlgemuth, M.; Auranen, M.; Mitsuhashi, S.; ... ; Maarel, S.M. van der
2016
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
Article / Letter to editor
metadata only
Tawil, R.; Padberg, G.W.; Shaw, D.W.; Maarel, S.M. van der; Tapscott, S.J.; FSHD Workshop Participants
2016
Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York
Article / Letter to editor
metadata only
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