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Items: 1 to 20 of 153

1.

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 Oct 13. pii: 10.1212/WNL.0000000000004647. doi: 10.1212/WNL.0000000000004647. [Epub ahead of print]

PMID:
29030457
2.

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
3.

What's in a name? The clinical features of facioscapulohumeral muscular dystrophy.

Mul K, Lassche S, Voermans NC, Padberg GW, Horlings CG, van Engelen BG.

Pract Neurol. 2016 Jun;16(3):201-7. doi: 10.1136/practneurol-2015-001353. Epub 2016 Feb 9. Review.

PMID:
26862222
4.

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
5.

De novo mutations in PLXND1 and REV3L cause Möbius syndrome.

Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer AP, Erasmus C, Schubert D, Brunner H, Pérez Aytés A, Marin F, Aroca P, Kayserili H, Carta A, de Wind N, Padberg GW, van Bokhoven H.

Nat Commun. 2015 Jun 12;6:7199. doi: 10.1038/ncomms8199.

6.

Facioscapulohumeral muscular dystrophy as a genetic cause of pectus excavatum.

Mul K, Padberg GW, Voermans NC.

Eur J Med Genet. 2015 Apr;58(4):203-4. doi: 10.1016/j.ejmg.2015.02.007. Epub 2015 Feb 25. No abstract available.

PMID:
25725206
7.

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.

8.

Skeletal muscle imaging in facioscapulohumeral muscular dystrophy, pattern and asymmetry of individual muscle involvement.

Rijken NH, van der Kooi EL, Hendriks JC, van Asseldonk RJ, Padberg GW, Geurts AC, van Engelen BG.

Neuromuscul Disord. 2014 Dec;24(12):1087-96. doi: 10.1016/j.nmd.2014.05.012. Epub 2014 Jun 26.

9.

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.

10.

Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration.

Janssen BH, Voet NB, Nabuurs CI, Kan HE, de Rooy JW, Geurts AC, Padberg GW, van Engelen BG, Heerschap A.

PLoS One. 2014 Jan 14;9(1):e85416. doi: 10.1371/journal.pone.0085416. eCollection 2014.

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.

12.

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.

13.

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy.

Lassche S, Stienen GJ, Irving TC, van der Maarel SM, Voermans NC, Padberg GW, Granzier H, van Engelen BG, Ottenheijm CA.

Neurology. 2013 Feb 19;80(8):733-7. doi: 10.1212/WNL.0b013e318282513b. Epub 2013 Jan 30.

14.

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.

Nat Genet. 2012 Dec;44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11.

15.

Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: workshop 9th June 2010, LUMC, Leiden, The Netherlands.

Lemmers RJ, O'Shea S, Padberg GW, Lunt PW, van der Maarel SM.

Neuromuscul Disord. 2012 May;22(5):463-70. doi: 10.1016/j.nmd.2011.09.004. Epub 2011 Dec 16. No abstract available.

16.

Clinical features of facioscapulohumeral muscular dystrophy 2.

de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R.

Neurology. 2010 Oct 26;75(17):1548-54. doi: 10.1212/WNL.0b013e3181f96175.

17.

A unifying genetic model for facioscapulohumeral muscular dystrophy.

Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM.

Science. 2010 Sep 24;329(5999):1650-3. doi: 10.1126/science.1189044. Epub 2010 Aug 19.

18.
19.

171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy.

Tawil R, van der Maarel S, Padberg GW, van Engelen BG.

Neuromuscul Disord. 2010 Jul;20(7):471-5. doi: 10.1016/j.nmd.2010.04.007. No abstract available.

PMID:
20554202
20.

[Facioscapulohumeral muscular dystrophy].

Wilbers J, Frants RR, van Engelen BG, Padberg GW, van der Maarel SM.

Ned Tijdschr Tandheelkd. 2010 Jan;117(1):11-4. Review. Dutch.

PMID:
20180344

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