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Items: 21

1.

Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study.

LoRusso S, Johnson NE, McDermott MP, Eichinger K, Butterfield RJ, Carraro E, Higgs K, Lewis L, Mul K, Sacconi S, Sansone VA, Shieh P, van Engelen B, Wagner K, Wang L, Statland JM, Tawil R; ReSolve Investigators and the FSHD CTRN18.

BMC Neurol. 2019 Sep 10;19(1):224. doi: 10.1186/s12883-019-1452-x.

2.

Effects of weakness of orofacial muscles on swallowing and communication in FSHD.

Mul K, Berggren KN, Sills MY, McCalley A, van Engelen BGM, Johnson NE, Statland JM.

Neurology. 2019 Feb 26;92(9):e957-e963. doi: 10.1212/WNL.0000000000007013. Epub 2019 Jan 25.

PMID:
30804066
3.

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
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.

Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers.

Mul K, Horlings CGC, Vincenten SCC, Voermans NC, van Engelen BGM, van Alfen N.

J Neurol. 2018 Nov;265(11):2646-2655. doi: 10.1007/s00415-018-9037-y. Epub 2018 Sep 6.

6.

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.

7.

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
8.

Lifetime endogenous estrogen exposure and disease severity in female patients with facioscapulohumeral muscular dystrophy.

Mul K, Horlings CGC, Voermans NC, Schreuder THA, van Engelen BGM.

Neuromuscul Disord. 2018 Jun;28(6):508-511. doi: 10.1016/j.nmd.2018.02.012. Epub 2018 Mar 8.

9.

Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study.

Mul K, Heatwole C, Eichinger K, Dilek N, Martens WB, Van Engelen BGM, Tawil R, Statland JM.

Muscle Nerve. 2018 Aug;58(2):213-218. doi: 10.1002/mus.26127. Epub 2018 Apr 17.

10.

Specific muscle strength is reduced in facioscapulohumeral dystrophy: An MRI based musculoskeletal analysis.

Marra MA, Heskamp L, Mul K, Lassche S, van Engelen BGM, Heerschap A, Verdonschot N.

Neuromuscul Disord. 2018 Mar;28(3):238-245. doi: 10.1016/j.nmd.2017.11.017. Epub 2017 Dec 12.

PMID:
29395674
11.

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.

12.

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.

13.

225th ENMC international workshop:: A global FSHD registry framework, 18-20 November 2016, Heemskerk, The Netherlands.

Mul K, Kinoshita J, Dawkins H, van Engelen B, Tupler R; FSHD Consortium.

Neuromuscul Disord. 2017 Aug;27(8):782-790. doi: 10.1016/j.nmd.2017.04.004. Epub 2017 Apr 12. No abstract available.

PMID:
28625604
14.

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.

15.

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 Oct;29(5):606-13. doi: 10.1097/WCO.0000000000000360. Review.

PMID:
27389814
16.

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
17.

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
18.

Systemic treatments in paediatric psoriasis: a systematic evidence-based update.

van Geel MJ, Mul K, de Jager ME, van de Kerkhof PC, de Jong EM, Seyger MM.

J Eur Acad Dermatol Venereol. 2015 Mar;29(3):425-37. doi: 10.1111/jdv.12749. Epub 2014 Oct 23. Review.

PMID:
25346019
19.

Cyclosporin A-induced posterior reversible encephalopathy syndrome in an adolescent with steroid-resistant nephrotic syndrome.

Hacihamdioğlu DÖ, Gökhan A, Cihan M, Mul K, Ferhan K, Süleymanoğlu S.

Int Urol Nephrol. 2014 Oct;46(10):2055-6. doi: 10.1007/s11255-014-0754-6. Epub 2014 Jun 8. No abstract available.

PMID:
24908282
20.

Calcipotriol/betamethasone dipropionate ointment in mild-to-moderate paediatric psoriasis: long-term daily clinical practice data in a prospective cohort.

van Geel MJ, Mul K, Oostveen AM, van de Kerkhof PC, de Jong EM, Seyger MM.

Br J Dermatol. 2014 Aug;171(2):363-9. doi: 10.1111/bjd.12895. Epub 2014 Jun 6.

PMID:
24593129
21.

Management of sporadic duodenal adenomas and the association with colorectal neoplasms: a retrospective cohort study.

van Heumen BW, Mul K, Nagtegaal ID, van Kouwen MC, Nagengast FM.

J Clin Gastroenterol. 2012 May-Jun;46(5):390-6. doi: 10.1097/MCG.0b013e318238e72d.

PMID:
22178960

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