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Items: 1 to 20 of 73

1.

Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy.

Goselink RJM, Mul K, van Kernebeek CR, Lemmers RJLF, van der Maarel SM, Schreuder THA, Erasmus CE, Padberg GW, Statland JM, Voermans NC, van Engelen BGM.

Neurology. 2019 Jan 22;92(4):e378-e385. doi: 10.1212/WNL.0000000000006819. Epub 2018 Dec 19.

PMID:
30568007
2.

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD.

Wang LH, Friedman SD, Shaw D, Snider L, Wong CJ, Budech CB, Poliachik SL, Gove NE, Lewis LM, Campbell AE, Lemmers RJFL, Maarel SM, Tapscott SJ, Tawil RN.

Hum Mol Genet. 2019 Feb 1;28(3):476-486. doi: 10.1093/hmg/ddy364.

PMID:
30312408
3.

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
4.

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
5.

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 Nov;84(5):627-637. doi: 10.1002/ana.25326. Epub 2018 Oct 16.

6.

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
7.

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
8.

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
9.

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
10.

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.

11.

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.

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.

De novo whole-genome assembly of a wild type yeast isolate using nanopore sequencing.

Liem M, Jansen HJ, Dirks RP, Henkel CV, van Heusden GPH, Lemmers RJLF, Omer T, Shao S, Punt PJ, Spaink HP.

Version 2. F1000Res. 2017 May 3 [revised 2018 Jan 1];6:618. doi: 10.12688/f1000research.11146.2. eCollection 2017.

14.
15.

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.

16.

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.

17.

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.

18.

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.

19.

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
20.

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.

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