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Items: 1 to 20 of 156

1.

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.

2.

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

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

Hum Mol Genet. 2016 Aug 15. pii: ddw271. [Epub ahead of print]

PMID:
27530253
3.

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 Jul 27. pii: ddw243. [Epub ahead of print]

PMID:
27466202
4.

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 Jul 6. [Epub ahead of print]

PMID:
27389814
5.

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.

6.

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

van den Boogaard ML, Lemmers RJ, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RF, Kriek M, Laurense-Bik ME, Raz V, van Ostaijen-Ten Dam MM, Hansson KB, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJ, Nishino I, Tawil R, Tapscott SJ, van Engelen BG, van der Maarel SM.

Am J Hum Genet. 2016 May 5;98(5):1020-9. doi: 10.1016/j.ajhg.2016.03.013.

PMID:
27153398
7.

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
8.

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.

9.

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
10.

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
11.

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
12.

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.

13.

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.

14.

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.

PMID:
26561289
15.

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.

PMID:
26356006
16.

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.

17.

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.

18.

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.

PMID:
26147692
19.

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.

20.

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.

PMID:
26041815
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