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Items: 1 to 20 of 173

1.

A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy.

Goselink RJM, van Kernebeek CR, Mul K, Lemmers RJLF, van der Maarel SM, Brouwer OF, Voermans N, Padberg GW, Erasmus CE, van Engelen BGM.

Eur J Paediatr Neurol. 2018 May 3. pii: S1090-3798(18)30019-9. doi: 10.1016/j.ejpn.2018.04.013. [Epub ahead of print]

PMID:
29753614
2.

Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.

Lim JW, Wong CJ, Yao Z, Tawil R, van der Maarel SM, Miller DG, Tapscott SJ, Filippova GN.

Hum Mol Genet. 2018 May 8. doi: 10.1093/hmg/ddy173. [Epub ahead of print]

PMID:
29741619
3.

Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type.

Grand Moursel L, van Roon-Mom WMC, Kiełbasa SM, Mei H, Buermans HPJ, van der Graaf LM, Hettne KM, de Meijer EJ, van Duinen SG, Laros JFJ, van Buchem MA, 't Hoen PAC, van der Maarel SM, van der Weerd L.

Front Aging Neurosci. 2018 Apr 13;10:102. doi: 10.3389/fnagi.2018.00102. eCollection 2018.

4.

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM.

J Med Genet. 2018 Mar 21. pii: jmedgenet-2017-105153. doi: 10.1136/jmedgenet-2017-105153. [Epub ahead of print]

PMID:
29563141
5.

NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins.

Campbell AE, Shadle SC, Jagannathan S, Lim JW, Resnick R, Tawil R, van der Maarel SM, Tapscott SJ.

Elife. 2018 Mar 13;7. pii: e31023. doi: 10.7554/eLife.31023.

6.

IgG4-mediated autoimmune diseases: a niche of antibody-mediated disorders.

Huijbers MG, Plomp JJ, van der Maarel SM, Verschuuren JJ.

Ann N Y Acad Sci. 2018 Feb;1413(1):92-103. doi: 10.1111/nyas.13561. Epub 2018 Jan 28. Review.

PMID:
29377160
7.

Passive transfer models of myasthenia gravis with muscle-specific kinase antibodies.

Verschuuren JJGM, Plomp JJ, Burden SJ, Zhang W, Fillié-Grijpma YE, Stienstra-van Es IE, Niks EH, Losen M, van der Maarel SM, Huijbers MG.

Ann N Y Acad Sci. 2018 Feb;1413(1):111-118. doi: 10.1111/nyas.13543. Epub 2018 Jan 21. Review.

PMID:
29356029
8.

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

de Greef JC, Krom YD, den Hamer B, Snider L, Hiramuki Y, van den Akker RFP, Breslin K, Pakusch M, Salvatori DCF, Slütter B, Tawil R, Blewitt ME, Tapscott SJ, van der Maarel SM.

Hum Mol Genet. 2018 Feb 15;27(4):716-731. doi: 10.1093/hmg/ddx437.

PMID:
29281018
9.

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, Goeman JJ, Arindrarto W, Krom YD, Straasheijm KR, Debipersad RD, Özel G, Sowden J, Snider L, Mul K, Sacconi S, van Engelen B, Tapscott SJ, Tawil R, van der Maarel SM.

Eur J Hum Genet. 2018 Jan;26(1):94-106. doi: 10.1038/s41431-017-0015-0. Epub 2017 Nov 21.

PMID:
29162933
10.

Adding quantitative muscle MRI to the FSHD clinical trial toolbox.

Mul K, Vincenten SCC, Voermans NC, Lemmers RJLF, van der Vliet PJ, van der Maarel SM, Padberg GW, Horlings CGC, van Engelen BGM.

Neurology. 2017 Nov 14;89(20):2057-2065. doi: 10.1212/WNL.0000000000004647. Epub 2017 Oct 13.

PMID:
29030457
11.

BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.

Campbell AE, Oliva J, Yates MP, Zhong JW, Shadle SC, Snider L, Singh N, Tai S, Hiramuki Y, Tawil R, van der Maarel SM, Tapscott SJ, Sverdrup FM.

Skelet Muscle. 2017 Sep 4;7(1):16. doi: 10.1186/s13395-017-0134-x.

12.

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.

Mason AG, Slieker RC, Balog J, Lemmers RJLF, Wong CJ, Yao Z, Lim JW, Filippova GN, Ne E, Tawil R, Heijmans BT, Tapscott SJ, van der Maarel SM.

Skelet Muscle. 2017 Jun 6;7(1):12. doi: 10.1186/s13395-017-0129-7.

13.

Respiratory function in facioscapulohumeral muscular dystrophy 1.

Wohlgemuth M, Horlings CGC, van der Kooi EL, Gilhuis HJ, Hendriks JCM, van der Maarel SM, van Engelen BGM, Heijdra YF, Padberg GW.

Neuromuscul Disord. 2017 Jun;27(6):526-530. doi: 10.1016/j.nmd.2017.03.008. Epub 2017 Mar 22.

PMID:
28416348
14.

DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy.

Shadle SC, Zhong JW, Campbell AE, Conerly ML, Jagannathan S, Wong CJ, Morello TD, van der Maarel SM, Tapscott SJ.

PLoS Genet. 2017 Mar 8;13(3):e1006658. doi: 10.1371/journal.pgen.1006658. eCollection 2017 Mar.

15.

Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells.

Jagannathan S, Shadle SC, Resnick R, Snider L, Tawil RN, van der Maarel SM, Bradley RK, Tapscott SJ.

Hum Mol Genet. 2016 Oct 15;25(20):4419-4431. doi: 10.1093/hmg/ddw271.

PMID:
28171552
16.

Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.

van den Boogaard ML, Thijssen PE, Aytekin C, Licciardi F, Kıykım AA, Spossito L, Dalm VASH, Driessen GJ, Kersseboom R, de Vries F, van Ostaijen-Ten Dam MM, Ikinciogullari A, Dogu F, Oleastro M, Bailardo E, Daxinger L, Nain E, Baris S, van Tol MJD, Weemaes C, van der Maarel SM.

Clin Genet. 2017 Oct;92(4):380-387. doi: 10.1111/cge.12979. Epub 2017 Mar 7.

PMID:
28128455
17.

IgG4 autoantibodies against muscle-specific kinase undergo Fab-arm exchange in myasthenia gravis patients.

Koneczny I, Stevens JA, De Rosa A, Huda S, Huijbers MG, Saxena A, Maestri M, Lazaridis K, Zisimopoulou P, Tzartos S, Verschuuren J, van der Maarel SM, van Damme P, De Baets MH, Molenaar PC, Vincent A, Ricciardi R, Martinez-Martinez P, Losen M.

J Autoimmun. 2017 Feb;77:104-115. doi: 10.1016/j.jaut.2016.11.005. Epub 2016 Dec 10.

18.

DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis.

Knopp P, Krom YD, Banerji CR, Panamarova M, Moyle LA, den Hamer B, van der Maarel SM, Zammit PS.

J Cell Sci. 2016 Oct 15;129(20):3816-3831.

19.

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).

Goselink RJ, Schreuder TH, Mul K, Voermans NC, Pelsma M, de Groot IJ, van Alfen N, Franck B, Theelen T, Lemmers RJ, Mah JK, van der Maarel SM, van Engelen BG, Erasmus CE.

BMC Neurol. 2016 Aug 17;16:138. doi: 10.1186/s12883-016-0664-6.

20.

Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals.

Wu H, Thijssen PE, de Klerk E, Vonk KK, Wang J, den Hamer B, Aytekin C, van der Maarel SM, Daxinger L.

Hum Mol Genet. 2016 Sep 15;25(18):4041-4051. doi: 10.1093/hmg/ddw243. Epub 2016 Jul 27.

PMID:
27466202

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