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Results: 1 to 20 of 127

1.

Population-based incidence and prevalence of facioscapulohumeral dystrophy.

Deenen JC, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJ, Bakker E, Weinreich SS, Verbeek AL, van Engelen BG.

Neurology. 2014 Aug 13. pii: 10.1212/WNL.0000000000000797. [Epub ahead of print]

PMID:
25122204
[PubMed - as supplied by publisher]
2.

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.

Tawil R, van der Maarel SM, Tapscott SJ.

Skelet Muscle. 2014 Jun 10;4:12. doi: 10.1186/2044-5040-4-12. eCollection 2014. Review.

PMID:
24940479
[PubMed]
Free PMC Article
3.

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.

Yao Z, Snider L, Balog J, Lemmers RJ, Van Der Maarel SM, Tawil R, Tapscott SJ.

Hum Mol Genet. 2014 May 26. pii: ddu251. [Epub ahead of print]

PMID:
24861551
[PubMed - as supplied by publisher]
4.

Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs.

Zeng W, Chen YY, Newkirk DA, Wu B, Balog J, Kong X, Ball AR Jr, Zanotti S, Tawil R, Hashimoto N, Mortazavi A, van der Maarel SM, Yokomori K.

Hum Mutat. 2014 Aug;35(8):998-1010. doi: 10.1002/humu.22593. Epub 2014 Jun 24.

PMID:
24838473
[PubMed - in process]
5.

Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features.

Dorobek M, van der Maarel SM, Lemmers RJ, Ryniewicz B, Kabziłska D, Frants RR, Gawel M, Walecki J, Hausmanowa-Petrusewicz I.

J Child Neurol. 2014 Apr 9. [Epub ahead of print]

PMID:
24717985
[PubMed - as supplied by publisher]
6.

A novel feed-forward loop between ARIH2 E3-ligase and PABPN1 regulates aging-associated muscle degeneration.

Raz V, Buijze H, Raz Y, Verwey N, Anvar SY, Aartsma-Rus A, van der Maarel SM.

Am J Pathol. 2014 Apr;184(4):1119-31. doi: 10.1016/j.ajpath.2013.12.011. Epub 2014 Jan 30.

PMID:
24486325
[PubMed - in process]
7.

DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.

Kisseljova NP, Dmitriev P, Katargin A, Kim E, Ezerina D, Markozashvili D, Malysheva D, Planche E, Lemmers RJ, van der Maarel SM, Laoudj-Chenivesse D, Lipinski M, Vassetzky YS.

Eur J Hum Genet. 2014 Sep;22(9):1117-23. doi: 10.1038/ejhg.2013.306. Epub 2014 Jan 22.

PMID:
24448543
[PubMed - in process]
8.

MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4.

Huijbers MG, Zhang W, Klooster R, Niks EH, Friese MB, Straasheijm KR, Thijssen PE, Vrolijk H, Plomp JJ, Vogels P, Losen M, Van der Maarel SM, Burden SJ, Verschuuren JJ.

Proc Natl Acad Sci U S A. 2013 Dec 17;110(51):20783-8. doi: 10.1073/pnas.1313944110. Epub 2013 Dec 2.

PMID:
24297891
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.

Young JM, Whiddon JL, Yao Z, Kasinathan B, Snider L, Geng LN, Balog J, Tawil R, van der Maarel SM, Tapscott SJ.

PLoS Genet. 2013 Nov;9(11):e1003947. doi: 10.1371/journal.pgen.1003947. Epub 2013 Nov 21.

PMID:
24278031
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Pathogenic immune mechanisms at the neuromuscular synapse: the role of specific antibody-binding epitopes in myasthenia gravis.

Huijbers MG, Lipka AF, Plomp JJ, Niks EH, van der Maarel SM, Verschuuren JJ.

J Intern Med. 2014 Jan;275(1):12-26. doi: 10.1111/joim.12163. Epub 2013 Nov 29. Review.

PMID:
24215230
[PubMed - indexed for MEDLINE]
11.

Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.

Lassche S, Ottenheijm CA, Voermans NC, Westeneng HJ, Janssen BH, van der Maarel SM, Hopman MT, Padberg GW, Stienen GJ, van Engelen BG.

BMC Neurol. 2013 Oct 11;13:144. doi: 10.1186/1471-2377-13-144.

PMID:
24119284
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM.

Am J Hum Genet. 2013 Oct 3;93(4):744-51. doi: 10.1016/j.ajhg.2013.08.004. Epub 2013 Sep 26.

PMID:
24075187
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Clinical trial preparedness in facioscapulohumeral dystrophy: outcome measures and patient access: 8-9 April 2013, Leiden, The Netherlands.

Tawil R, Shaw DW, van der Maarel SM, Tapscott SJ.

Neuromuscul Disord. 2014 Jan;24(1):79-85. doi: 10.1016/j.nmd.2013.07.009. Epub 2013 Aug 2. No abstract available.

PMID:
24011701
[PubMed - in process]
14.

Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy.

Raz V, Sterrenburg E, Routledge S, Venema A, van der Sluijs BM, Trollet C, Dickson G, van Engelen BG, van der Maarel SM, Antoniou MN.

BMC Neurol. 2013 Jul 1;13:70. doi: 10.1186/1471-2377-13-70.

PMID:
23815790
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging.

Anvar SY, Raz Y, Verway N, van der Sluijs B, Venema A, Goeman JJ, Vissing J, van der Maarel SM, 't Hoen PA, van Engelen BG, Raz V.

Aging (Albany NY). 2013 Jun;5(6):412-26.

PMID:
23793615
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Chromatin remodeling of human subtelomeres and TERRA promoters upon cellular senescence: commonalities and differences between chromosomes.

Thijssen PE, Tobi EW, Balog J, Schouten SG, Kremer D, El Bouazzaoui F, Henneman P, Putter H, Eline Slagboom P, Heijmans BT, van der Maarel SM.

Epigenetics. 2013 May;8(5):512-21. doi: 10.4161/epi.24450. Epub 2013 Apr 17.

PMID:
23644601
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.

Krom YD, Thijssen PE, Young JM, den Hamer B, Balog J, Yao Z, Maves L, Snider L, Knopp P, Zammit PS, Rijkers T, van Engelen BG, Padberg GW, Frants RR, Tawil R, Tapscott SJ, van der Maarel SM.

PLoS Genet. 2013 Apr;9(4):e1003415. doi: 10.1371/journal.pgen.1003415. Epub 2013 Apr 4.

PMID:
23593020
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Antibodies to active zone protein ERC1 in Lambert-Eaton myasthenic syndrome.

Huijbers MG, Lipka AF, Potman M, Hensbergen PJ, Titulaer MJ, Niks EH, van der Maarel SM, Klooster R, Verschuuren JJ.

Hum Immunol. 2013 Jul;74(7):849-51. doi: 10.1016/j.humimm.2013.03.004. Epub 2013 Apr 10.

PMID:
23583364
[PubMed - indexed for MEDLINE]
19.

Dysferlin regulates cell adhesion in human monocytes.

de Morrée A, Flix B, Bagaric I, Wang J, van den Boogaard M, Grand Moursel L, Frants RR, Illa I, Gallardo E, Toes R, van der Maarel SM.

J Biol Chem. 2013 May 17;288(20):14147-57. doi: 10.1074/jbc.M112.448589. Epub 2013 Apr 4.

PMID:
23558685
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions.

Schaap M, Lemmers RJ, Maassen R, van der Vliet PJ, Hoogerheide LF, van Dijk HK, Baştürk N, de Knijff P, van der Maarel SM.

BMC Genomics. 2013 Mar 4;14:143. doi: 10.1186/1471-2164-14-143.

PMID:
23496858
[PubMed - indexed for MEDLINE]
Free PMC Article

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