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Items: 1 to 50 of 179

1.

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.

Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM.

Hum Mol Genet. 2018 Oct 15;27(20):3488-3497. doi: 10.1093/hmg/ddy236.

PMID:
30281091
2.

Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation.

Luijk R, Wu H, Ward-Caviness CK, Hannon E, Carnero-Montoro E, Min JL, Mandaviya P, Müller-Nurasyid M, Mei H, van der Maarel SM; BIOS Consortium, Relton C, Mill J, Waldenberger M, Bell JT, Jansen R, Zhernakova A, Franke L, 't Hoen PAC, Boomsma DI, van Duijn CM, van Greevenbroek MMJ, Veldink JH, Wijmenga C, van Meurs J, Daxinger L, Slagboom PE, van Zwet EW, Heijmans BT.

Nat Commun. 2018 Sep 14;9(1):3738. doi: 10.1038/s41467-018-05714-3.

3.

Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1.

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

Clin Genet. 2018 Dec;94(6):521-527. doi: 10.1111/cge.13446. Epub 2018 Oct 8.

PMID:
30211448
4.

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.

Goselink RJM, Schreuder THA, van Alfen N, de Groot IJM, Jansen M, Lemmers RJLF, van der Vliet PJ, van der Stoep N, Theelen T, Voermans NC, van der Maarel SM, van Engelen BGM, Erasmus CE.

Ann Neurol. 2018 Sep 4. doi: 10.1002/ana.25326. [Epub ahead of print]

PMID:
30179273
5.

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1.

Wohlgemuth M, Lemmers RJ, Jonker M, van der Kooi E, Horlings CG, van Engelen BG, van der Maarel SM, Padberg GW, Voermans NC.

Neurology. 2018 Jul 31;91(5):e444-e454. doi: 10.1212/WNL.0000000000005915. Epub 2018 Jul 11.

PMID:
29997197
6.

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM Jr, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM.

Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6.

PMID:
29980640
7.

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 Sep;22(5):782-785. doi: 10.1016/j.ejpn.2018.04.013. Epub 2018 May 3.

PMID:
29753614
8.

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
9.

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.

10.

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 Jul;55(7):469-478. doi: 10.1136/jmedgenet-2017-105153. Epub 2018 Mar 21.

PMID:
29563141
11.

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.

12.

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
13.

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
14.

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
15.

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
16.

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.

17.

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.

18.

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.

19.

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
20.

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.

21.

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.

22.

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
23.

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.

24.

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.

25.

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.

26.

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
27.

Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy.

Mul K, van den Boogaard ML, van der Maarel SM, van Engelen BG.

Curr Opin Neurol. 2016 Oct;29(5):606-13. doi: 10.1097/WCO.0000000000000360. Review.

PMID:
27389814
28.

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H.

Nat Commun. 2016 Jun 22;7:12003. doi: 10.1038/ncomms12003. No abstract available.

29.

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM.

Am J Hum Genet. 2016 May 5;98(5):1020-1029. doi: 10.1016/j.ajhg.2016.03.013.

30.

Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis.

Huijbers MG, Niks EH, Klooster R, de Visser M, Kuks JB, Veldink JH, Klarenbeek P, Van Damme P, de Baets MH, van der Maarel SM, van den Berg LH, Verschuuren JJ.

Neuromuscul Disord. 2016 Jun;26(6):350-3. doi: 10.1016/j.nmd.2016.04.004. Epub 2016 Apr 6.

PMID:
27133662
31.

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, de Jong A, Lemmers RJ, Tawil R, Tapscott SJ, van der Maarel SM.

Epigenetics. 2016;11(2):175. doi: 10.1080/15592294.2016.1161273. No abstract available.

32.

Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity.

Huijbers MG, Vink AF, Niks EH, Westhuis RH, van Zwet EW, de Meel RH, Rojas-García R, Díaz-Manera J, Kuks JB, Klooster R, Straasheijm K, Evoli A, Illa I, van der Maarel SM, Verschuuren JJ.

J Neuroimmunol. 2016 Feb 15;291:82-8. doi: 10.1016/j.jneuroim.2015.12.016. Epub 2016 Jan 5.

PMID:
26857500
33.

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

Calandra P, Cascino I, Lemmers RJ, Galluzzi G, Teveroni E, Monforte M, Tasca G, Ricci E, Moretti F, van der Maarel SM, Deidda G.

J Med Genet. 2016 May;53(5):348-55. doi: 10.1136/jmedgenet-2015-103436. Epub 2016 Feb 1.

PMID:
26831754
34.

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York.

Tawil R, Padberg GW, Shaw DW, van der Maarel SM, Tapscott SJ; FSHD Workshop Participants.

Neuromuscul Disord. 2016 Feb;26(2):181-6. doi: 10.1016/j.nmd.2015.10.005. Epub 2015 Nov 9. No abstract available.

PMID:
26627872
35.

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, de Jong A, F Lemmers RJ, Tawil R, Tapscott SJ, van der Maarel SM.

Epigenetics. 2015;10(12):1133-42. doi: 10.1080/15592294.2015.1113798. Erratum in: Epigenetics. 2016;11(2):175.

36.

Differential myofiber-type transduction preference of adeno-associated virus serotypes 6 and 9.

Riaz M, Raz Y, Moloney EB, van Putten M, Krom YD, van der Maarel SM, Verhaagen J, Raz V.

Skelet Muscle. 2015 Nov 10;5:37. doi: 10.1186/s13395-015-0064-4. eCollection 2015.

37.

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats.

Statland JM, Donlin-Smith CM, Tapscott SJ, Lemmers RJ, van der Maarel SM, Tawil R.

Neurology. 2015 Dec 15;85(24):2147-50. doi: 10.1212/WNL.0000000000002217. Epub 2015 Nov 11.

38.

Genetic and epigenetic contributors to FSHD.

Daxinger L, Tapscott SJ, van der Maarel SM.

Curr Opin Genet Dev. 2015 Aug;33:56-61. doi: 10.1016/j.gde.2015.08.007. Epub 2015 Sep 7. Review.

39.

Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies.

Statland JM, Odrzywolski KJ, Shah B, Henderson D, Fricke AF, van der Maarel SM, Tapscott SJ, Tawil R.

J Neuromuscul Dis. 2015;2(3):291-299.

40.

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H.

Nat Commun. 2015 Jul 28;6:7870. doi: 10.1038/ncomms8870. Erratum in: Nat Commun. 2016 Jun 22;7:12003.

41.

Camelid heavy chain only antibody fragment domain against β-site of amyloid precursor protein cleaving enzyme 1 inhibits β-secretase activity in vitro and in vivo.

Dorresteijn B, Rotman M, Faber D, Schravesande R, Suidgeest E, van der Weerd L, van der Maarel SM, Verrips CT, El Khattabi M.

FEBS J. 2015 Sep;282(18):3618-31. doi: 10.1111/febs.13367. Epub 2015 Jul 22.

42.

Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation.

Chen K, Hu J, Moore DL, Liu R, Kessans SA, Breslin K, Lucet IS, Keniry A, Leong HS, Parish CL, Hilton DJ, Lemmers RJ, van der Maarel SM, Czabotar PE, Dobson RC, Ritchie ME, Kay GF, Murphy JM, Blewitt ME.

Proc Natl Acad Sci U S A. 2015 Jul 7;112(27):E3535-44. doi: 10.1073/pnas.1504232112. Epub 2015 Jun 19.

43.

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.

Lim JW, Snider L, Yao Z, Tawil R, Van Der Maarel SM, Rigo F, Bennett CF, Filippova GN, Tapscott SJ.

Hum Mol Genet. 2015 Sep 1;24(17):4817-28. doi: 10.1093/hmg/ddv206. Epub 2015 Jun 3.

44.

The expanding field of IgG4-mediated neurological autoimmune disorders.

Huijbers MG, Querol LA, Niks EH, Plomp JJ, van der Maarel SM, Graus F, Dalmau J, Illa I, Verschuuren JJ.

Eur J Neurol. 2015 Aug;22(8):1151-61. doi: 10.1111/ene.12758. Epub 2015 May 29. Review.

PMID:
26032110
45.

Fusion of hIgG1-Fc to 111In-anti-amyloid single domain antibody fragment VHH-pa2H prolongs blood residential time in APP/PS1 mice but does not increase brain uptake.

Rotman M, Welling MM, van den Boogaard ML, Moursel LG, van der Graaf LM, van Buchem MA, van der Maarel SM, van der Weerd L.

Nucl Med Biol. 2015 Aug;42(8):695-702. doi: 10.1016/j.nucmedbio.2015.03.003. Epub 2015 Mar 18.

46.

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.

Lemmers RJ, van den Boogaard ML, van der Vliet PJ, Donlin-Smith CM, Nations SP, Ruivenkamp CA, Heard P, Bakker B, Tapscott S, Cody JD, Tawil R, van der Maarel SM.

Hum Mutat. 2015 Jul;36(7):679-83. doi: 10.1002/humu.22792. Epub 2015 May 20.

47.

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 RJ, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM.

Eur J Hum Genet. 2016 Jan;24(1):78-85. doi: 10.1038/ejhg.2015.55. Epub 2015 Mar 18.

48.

Enhanced glutathione PEGylated liposomal brain delivery of an anti-amyloid single domain antibody fragment in a mouse model for Alzheimer's disease.

Rotman M, Welling MM, Bunschoten A, de Backer ME, Rip J, Nabuurs RJ, Gaillard PJ, van Buchem MA, van der Maarel SM, van der Weerd L.

J Control Release. 2015 Apr 10;203:40-50. doi: 10.1016/j.jconrel.2015.02.012. Epub 2015 Feb 7.

PMID:
25668771
49.

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.

Feng Q, Snider L, Jagannathan S, Tawil R, van der Maarel SM, Tapscott SJ, Bradley RK.

Elife. 2015 Jan 7;4. doi: 10.7554/eLife.04996.

50.

Selection and characterization of llama single domain antibodies against N-terminal huntingtin.

Schut MH, Pepers BA, Klooster R, van der Maarel SM, El Khatabi M, Verrips T, den Dunnen JT, van Ommen GJ, van Roon-Mom WM.

Neurol Sci. 2015 Mar;36(3):429-34. doi: 10.1007/s10072-014-1971-6. Epub 2014 Oct 8.

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