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Results: 1 to 20 of 134

1.

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 Mar 27. doi: 10.1002/humu.22792. [Epub ahead of print]

PMID:
25820463
2.

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

van den Boogaard ML, Jfl Lemmers R, 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. 2015 Mar 18. doi: 10.1038/ejhg.2015.55. [Epub ahead of print]

PMID:
25782668
3.

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
4.

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.

5.

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.

6.

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM.

Hum Mol Genet. 2015 Feb 1;24(3):659-69. doi: 10.1093/hmg/ddu486. Epub 2014 Sep 25.

PMID:
25256356
7.

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 Sep 16;83(12):1056-9. doi: 10.1212/WNL.0000000000000797. Epub 2014 Aug 13.

PMID:
25122204
8.

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.

9.

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 Oct 15;23(20):5342-52. doi: 10.1093/hmg/ddu251. Epub 2014 May 26.

PMID:
24861551
10.

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
11.

Early-onset facioscapulohumeral muscular dystrophy type 1 with some atypical features.

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

J Child Neurol. 2015 Apr;30(5):580-7. doi: 10.1177/0883073814528281. Epub 2014 Apr 9.

PMID:
24717985
12.

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.

13.

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
14.

DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy.

Thijssen PE, Balog J, Yao Z, Pham TP, Tawil R, Tapscott SJ, Van der Maarel SM.

Skelet Muscle. 2014 Oct 24;4:19. doi: 10.1186/2044-5040-4-19. eCollection 2014.

15.

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.

16.

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.

17.

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
18.

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.

19.

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.

20.

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
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