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Items: 1 to 50 of 156

1.

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 11. pii: 10.1212/WNL.0000000000005915. doi: 10.1212/WNL.0000000000005915. [Epub ahead of print]

PMID:
29997197
2.

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 May 3. pii: S1090-3798(18)30019-9. doi: 10.1016/j.ejpn.2018.04.013. [Epub ahead of print]

PMID:
29753614
3.

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data.

Goselink RJM, Voermans NC, Okkersen K, Brouwer OF, Padberg GW, Nikolic A, Tupler R, Dorobek M, Mah JK, van Engelen BGM, Schreuder THA, Erasmus CE.

Neuromuscul Disord. 2017 Dec;27(12):1077-1083. doi: 10.1016/j.nmd.2017.09.007. Epub 2017 Sep 21. Review.

PMID:
29102079
4.

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.

PMID:
29030457
5.

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
6.

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
7.

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
8.

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.

9.

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
10.

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.

11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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.

18.

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.

19.

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.

20.

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.

21.
22.

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
23.

[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
24.

Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.

Voermans NC, Guillard M, Doedée R, Lammens M, Huizing M, Padberg GW, Wevers RA, van Engelen BG, Lefeber DJ.

Clin Neuropathol. 2010 Mar-Apr;29(2):71-7.

25.

Only fat infiltrated muscles in resting lower leg of FSHD patients show disturbed energy metabolism.

Kan HE, Klomp DW, Wohlgemuth M, van Loosbroek-Wagemans I, van Engelen BG, Padberg GW, Heerschap A.

NMR Biomed. 2010 Jul;23(6):563-8. doi: 10.1002/nbm.1494.

PMID:
20175146
26.

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, Strohmaier H, Lochmüller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C.

Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27.

27.

Facioscapulohumeral muscular dystrophy.

Padberg GW, van Engelen BG.

Curr Opin Neurol. 2009 Oct;22(5):539-42. doi: 10.1097/WCO.0b013e328330a572. Review.

PMID:
19724227
28.

Epidemiology and pathophysiology of falls in facioscapulohumeral disease.

Horlings CG, Munneke M, Bickerstaffe A, Laverman L, Allum JH, Padberg GW, Bloem BR, van Engelen BG.

J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1357-63. doi: 10.1136/jnnp.2009.173534. Epub 2009 Jun 21.

PMID:
19546106
29.

Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy.

Kan HE, Scheenen TW, Wohlgemuth M, Klomp DW, van Loosbroek-Wagenmans I, Padberg GW, Heerschap A.

Neuromuscul Disord. 2009 May;19(5):357-62. doi: 10.1016/j.nmd.2009.02.009. Epub 2009 Mar 28.

PMID:
19329315
30.

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.

Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM.

Am J Hum Genet. 2007 Nov;81(5):884-94. Epub 2007 Sep 7.

31.

Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection.

de Kovel CG, Franke B, Hol FA, Lebrec JJ, Maassen B, Brunner H, Padberg GW, Platko J, Pauls D.

Am J Med Genet B Neuropsychiatr Genet. 2008 Apr 5;147(3):294-300.

PMID:
17886254
32.

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.

de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM.

Neurology. 2007 Sep 4;69(10):1018-26.

PMID:
17785671
33.

Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.

van der Kooi AJ, Frankhuizen WS, Barth PG, Howeler CJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, van Ommen GJ, de Visser M, Bakker E, Ginjaar HB.

Neurology. 2007 Jun 12;68(24):2125-8.

PMID:
17562833
34.

Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy.

van der Kooi EL, Kalkman JS, Lindeman E, Hendriks JC, van Engelen BG, Bleijenberg G, Padberg GW.

J Neurol. 2007 Jul;254(7):931-40. Epub 2007 Mar 14.

35.

Pushing the genetic frontier with facioscapulohumeral muscular dystrophy.

Greenberg SA, Padberg GW.

Neurology. 2007 Feb 20;68(8):544-5. No abstract available.

PMID:
17310022
36.

Intake of 13C-4 creatine enables simultaneous assessment of creatine and phosphocreatine pools in human skeletal muscle by 13C MR spectroscopy.

Kan HE, van der Graaf M, Klomp DW, Vlak MH, Padberg GW, Heerschap A.

Magn Reson Med. 2006 Nov;56(5):953-7.

37.

No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy.

van der Kooi EL, de Greef JC, Wohlgemuth M, Frants RR, van Asseldonk RJ, Blom HJ, van Engelen BG, van der Maarel SM, Padberg GW.

Neuromuscul Disord. 2006 Nov;16(11):766-9. Epub 2006 Sep 26.

PMID:
17005397
38.

Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.

Michielse CB, Bhat M, Brady A, Jafrid H, van den Hurk JA, Raashid Y, Brunner HG, van Bokhoven H, Padberg GW.

Eur J Hum Genet. 2006 Dec;14(12):1306-12. Epub 2006 Aug 16.

39.

Facioscapulohumeral muscular dystrophy.

van der Maarel SM, Frants RR, Padberg GW.

Biochim Biophys Acta. 2007 Feb;1772(2):186-94. Epub 2006 Jun 6. Review.

40.

Dysphagia in facioscapulohumeral muscular dystrophy.

Wohlgemuth M, de Swart BJ, Kalf JG, Joosten FB, Van der Vliet AM, Padberg GW.

Neurology. 2006 Jun 27;66(12):1926-8.

PMID:
16801662
41.

An unbiased and efficient computerised tomography method to quantify muscle and adipose tissue volume in neuromuscular patients.

van der Kooi EL, de Leeuw GE, Vlak MH, Hendriks JC, Padberg GW, Vogels OJ.

Neurol Sci. 2006 Feb;26(6):423-9.

PMID:
16601935
42.

Electrophysiological assessment in patients with Möbius syndrome and clumsiness.

Verzijl HT, Padberg GW, Zwarts MJ.

J Clin Neurophysiol. 2005 Dec;22(6):422-5.

PMID:
16462200
43.

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.

van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, Jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM.

Ann Neurol. 2005 Oct;58(4):569-76.

PMID:
16178028
44.

Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I.

Kalkman JS, Schillings ML, van der Werf SP, Padberg GW, Zwarts MJ, van Engelen BG, Bleijenberg G.

J Neurol Neurosurg Psychiatry. 2005 Oct;76(10):1406-9.

45.

Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis.

van der Zwaag B, Burbach JP, Brunner HG, van Bokhoven H, Padberg GW.

Brain Res Dev Brain Res. 2005 Aug 8;158(1-2):66-71.

PMID:
15996756
46.

Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse.

van der Zwaag B, Burbach JP, Scharfe C, Oefner PJ, Brunner HG, Padberg GW, van Bokhoven H.

Genomics. 2005 Jul;86(1):55-67. Epub 2005 Apr 20.

PMID:
15953540
47.

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.

Buzhov BT, Lemmers RJ, Tournev I, van der Wielen MJ, Ishpekova B, Petkov R, Petrova J, Frants RR, Padberg GW, van der Maarel SM.

Neuromuscul Disord. 2005 Jul;15(7):471-5.

PMID:
15935668
48.

The spectrum of Mobius syndrome: an electrophysiological study.

Verzijl HT, Padberg GW, Zwarts MJ.

Brain. 2005 Jul;128(Pt 7):1728-36. Epub 2005 Apr 13.

PMID:
15829555
49.

Radiologic evidence for absence of the facial nerve in Möbius syndrome.

Verzijl HT, Valk J, de Vries R, Padberg GW.

Neurology. 2005 Mar 8;64(5):849-55.

PMID:
15753421
50.

Cognitive evaluation in adult patients with Möbius syndrome.

Verzijl HT, van Es N, Berger HJ, Padberg GW, van Spaendonck KP.

J Neurol. 2005 Feb;252(2):202-7.

PMID:
15729527

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