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Items: 1 to 50 of 124

1.

Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study.

Abel EEDH, Cup EHC, Lanser A, Leclercq WKG, Raaphorst J, Padberg GW, Satink T, Voermans NC.

Neuromuscul Disord. 2018 Sep 19. pii: S0960-8966(18)31021-6. doi: 10.1016/j.nmd.2018.09.003. [Epub ahead of print]

PMID:
30342904
2.

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
3.

Graves' disease and celiac disease in a patient with myotonic dystrophy type 2.

Damen MJ, van der Meer A, Voermans NC, Tieleman AA.

Neuromuscul Disord. 2018 Oct;28(10):878-880. doi: 10.1016/j.nmd.2018.07.003. Epub 2018 Jul 20.

PMID:
30197184
4.

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.

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 Sep 4. doi: 10.1002/ana.25326. [Epub ahead of print]

PMID:
30179273
6.

Mastication and Oral Motor Function in McArdle Disease: Patient Reported Complaints.

Kouwenberg CV, Voermans NC, Quinlivan R, van den Engel-Hoek L.

J Neuromuscul Dis. 2018;5(3):353-357. doi: 10.3233/JND-180320.

PMID:
30103350
7.

MRI-Guided Biopsy as a Tool for Diagnosis and Research of Muscle Disorders.

Lassche S, Janssen BH, IJzermans T, Fütterer JJ, Voermans NC, Heerschap A, Küsters B, Mann RM, van Engelen BG.

J Neuromuscul Dis. 2018;5(3):315-319. doi: 10.3233/JND-180318.

8.

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Abu Bakar N, Voermans NC, Marquardt T, Thiel C, Janssen MCH, Hansikova H, Crushell E, Sykut-Cegielska J, Bowling F, MØrkrid L, Vissing J, Morava E, van Scherpenzeel M, Lefeber DJ.

Transl Res. 2018 Sep;199:62-76. doi: 10.1016/j.trsl.2018.04.008. Epub 2018 May 10.

9.

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
10.

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
11.

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE; DOOFNL Consortium, Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H.

Am J Hum Genet. 2018 Jul 5;103(1):74-88. doi: 10.1016/j.ajhg.2018.05.011. Epub 2018 Jun 28.

PMID:
29961571
12.

The extracellular matrix glycoprotein tenascin-X regulates peripheral sensory and motor neurones.

Aktar R, Peiris M, Fikree A, Cibert-Goton V, Walmsley M, Tough IR, Watanabe P, Araujo EJA, Mohammed SD, Delalande JM, Bulmer DC, Scott SM, Cox HM, Voermans NC, Aziz Q, Blackshaw LA.

J Physiol. 2018 Sep;596(17):4237-4251. doi: 10.1113/JP276300. Epub 2018 Jul 18.

13.

Is fatigue a disease-specific or generic symptom in chronic medical conditions?

Menting J, Tack CJ, Bleijenberg G, Donders R, Droogleever Fortuyn HA, Fransen J, Goedendorp MM, Kalkman JS, Strik-Albers R, van Alfen N, van der Werf SP, Voermans NC, van Engelen BG, Knoop H.

Health Psychol. 2018 Jun;37(6):530-543. doi: 10.1037/hea0000598.

PMID:
29781654
14.

Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.

Hobbelink SMR, Brockley CR, Kennedy RA, Carroll K, de Valle K, Rao P, Davis MR, Laing NG, Voermans NC, Ryan MM, Yiu EM.

Brain Behav. 2018 Feb 21;8(4):e00919. doi: 10.1002/brb3.919. eCollection 2018 Apr.

15.

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.

16.

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.

Witting N, Laforêt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A.

Acta Neurol Scand. 2018 May;137(5):452-461. doi: 10.1111/ane.12885. Epub 2017 Dec 29.

PMID:
29635721
17.

Repeatability and reliability of muscle relaxation properties induced by motor cortical stimulation.

Molenaar JP, Voermans NC, de Jong LA, Stegeman DF, Doorduin J, van Engelen BG.

J Appl Physiol (1985). 2018 Jun 1;124(6):1597-1604. doi: 10.1152/japplphysiol.00455.2017. Epub 2018 Mar 15.

PMID:
29543137
18.

Involvement of pelvic girdle and proximal leg muscles in early oculopharyngeal muscular dystrophy.

van der Sluijs BM, Lassche S, Knuiman GJ, Kusters B, Heerschap A, Hopman M, Schreuder TH, van Engelen BGM, Voermans NC.

Neuromuscul Disord. 2017 Dec;27(12):1099-1105. doi: 10.1016/j.nmd.2017.09.010. Epub 2017 Sep 28.

PMID:
29102430
19.

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
20.

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.

21.

MRI in sarcoglycanopathies: a large international cohort study.

Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9.

PMID:
28889091
22.

Evidence of er stress and upr activation in patients with brody disease and brody syndrome.

Guglielmi V, Voermans NC, Oosterhof A, Nowis D, van Engelen BG, Tomelleri G, Vattemi G.

Neuropathol Appl Neurobiol. 2017 Aug 12. doi: 10.1111/nan.12431. [Epub ahead of print]

PMID:
28801956
23.

Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndrome.

Nygaard RH, Jensen JK, Voermans NC, Heinemeier KM, Schjerling P, Holm L, Agergaard J, Mackey AL, Andersen JL, Remvig L, Kjaer M.

J Appl Physiol (1985). 2017 Aug 1;123(2):482-488. doi: 10.1152/japplphysiol.01044.2016. Epub 2017 Jun 8.

24.

The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test.

Hogrel JY, Janssen JBE, Ledoux I, Ollivier G, Béhin A, Stojkovic T, Eymard B, Voermans NC, Laforet P.

J Clin Pathol. 2017 Oct;70(10):896-898. doi: 10.1136/jclinpath-2017-204324. Epub 2017 Apr 11.

PMID:
28400468
25.

Neurological and spinal manifestations of the Ehlers-Danlos syndromes.

Henderson FC Sr, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):195-211. doi: 10.1002/ajmg.c.31549. Epub 2017 Feb 21. Review.

PMID:
28220607
26.

PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose.

Voermans NC, Preisler N, Madsen KL, Janssen MC, Kusters B, Abu Bakar N, Conte F, Lamberti VM, Nusman F, van Engelen BG, van Scherpenzeel M, Vissing J, Lefeber DJ.

Neuromuscul Disord. 2017 Apr;27(4):370-376. doi: 10.1016/j.nmd.2017.01.014. Epub 2017 Jan 19.

PMID:
28190645
27.

The yield of diagnostic work-up of patients presenting with myalgia, exercise intolerance, or fatigue: A prospective observational study.

Te Riele MG, Schreuder TH, van Alfen N, Bergman M, Pillen S, Smits BW, van der Wilt GJ, Groenewoud H, Voermans NC, van Engelen BG.

Neuromuscul Disord. 2017 Mar;27(3):243-250. doi: 10.1016/j.nmd.2016.12.002. Epub 2016 Dec 15.

PMID:
28082206
28.

A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype.

Bednarz M, Stunnenberg BC, Kusters B, Kamsteeg EJ, Saris CG, Groome J, Winston V, Meola G, Jurkat-Rott K, Voermans NC.

Neuromuscul Disord. 2017 Feb;27(2):175-182. doi: 10.1016/j.nmd.2016.09.023. Epub 2016 Oct 19.

PMID:
28024841
29.

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

Scalco RS, Snoeck M, Quinlivan R, Treves S, Laforét P, Jungbluth H, Voermans NC.

BMJ Open Sport Exerc Med. 2016 Sep 7;2(1):e000151. eCollection 2016.

30.

Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy.

van der Sluijs BM, Raz V, Lammens M, van den Heuvel LP, Voermans NC, van Engelen BG.

J Neuromuscul Dis. 2016 Mar 3;3(1):101-109.

PMID:
27854203
31.

Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC.

van den Bogaart FJ, Claeys KG, Kley RA, Kusters B, Schrading S, Kamsteeg EJ, Voermans NC.

Neuromuscul Disord. 2017 Jan;27(1):73-77. doi: 10.1016/j.nmd.2016.09.017. Epub 2016 Sep 27.

PMID:
27816332
32.

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC.

Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4.

PMID:
27582382
33.

RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction.

Voermans NC, Snoeck M, Jungbluth H.

Rev Neurol (Paris). 2016 Oct;172(10):546-558. doi: 10.1016/j.neurol.2016.07.018. Epub 2016 Sep 20. Review.

PMID:
27663056
34.

Congenital myopathies: not only a paediatric topic.

Jungbluth H, Voermans NC.

Curr Opin Neurol. 2016 Oct;29(5):642-50. doi: 10.1097/WCO.0000000000000372. Review.

PMID:
27538056
35.

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.

36.

Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis.

Scalco RS, Voermans NC, Piercy RJ, Jungbluth H, Quinlivan R.

Eur J Neurol. 2016 Aug;23(8):e56-7. doi: 10.1111/ene.13051. No abstract available.

PMID:
27431030
37.

Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy.

Guglielmi V, Oosterhof A, Voermans NC, Cardani R, Molenaar JP, van Kuppevelt TH, Meola G, van Engelen BG, Tomelleri G, Vattemi G.

Neuromuscul Disord. 2016 Jun;26(6):378-85. doi: 10.1016/j.nmd.2016.04.003. Epub 2016 Apr 6.

PMID:
27133661
38.

[Overactive muscles: it can be more serious than common myalgia or cramp].

Molenaar JP, Snoeck MM, Voermans NC, van Engelen BG.

Ned Tijdschr Geneeskd. 2016;160:A9675. Dutch.

PMID:
27122070
39.

Mutation-specific effects on thin filament length in thin filament myopathy.

Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA.

Ann Neurol. 2016 Jun;79(6):959-69. doi: 10.1002/ana.24654. Epub 2016 Apr 30.

40.

"Human Stress Syndrome" and the Expanding Spectrum of RYR1-Related Myopathies.

Snoeck M, Treves S, Molenaar JP, Kamsteeg EJ, Jungbluth H, Voermans NC.

Cell Biochem Biophys. 2016 Mar;74(1):85-7. doi: 10.1007/s12013-015-0704-7. No abstract available.

PMID:
26972305
41.

The wrong end of the telescope: neuromuscular mimics of movement disorders (and vice versa).

Bloem BR, Voermans NC, Aerts MB, Bhatia KP, van Engelen BG, van de Warrenburg BP.

Pract Neurol. 2016 Aug;16(4):264-9. doi: 10.1136/practneurol-2015-001311. Epub 2016 Mar 10. Review.

PMID:
26965497
42.

The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments.

van der Sluijs BM, Knoop H, Bleijenberg G, van Engelen BG, Voermans NC.

Neuromuscul Disord. 2016 Mar;26(3):221-6. doi: 10.1016/j.nmd.2015.12.009. Epub 2016 Feb 13.

PMID:
26948710
43.

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
44.

Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.

Dekker AM, Seelen M, van Doormaal PT, van Rheenen W, Bothof RJ, van Riessen T, Brands WJ, van der Kooi AJ, de Visser M, Voermans NC, Pasterkamp RJ, Veldink JH, van den Berg LH, van Es MA.

Neurobiol Aging. 2016 Mar;39:220.e9-15. doi: 10.1016/j.neurobiolaging.2015.12.012. Epub 2015 Dec 29.

PMID:
26777436
45.

Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition.

Schirris TJ, Renkema GH, Ritschel T, Voermans NC, Bilos A, van Engelen BG, Brandt U, Koopman WJ, Beyrath JD, Rodenburg RJ, Willems PH, Smeitink JA, Russel FG.

Cell Metab. 2015 Sep 1;22(3):399-407. doi: 10.1016/j.cmet.2015.08.002.

46.

RYR1-related myopathies: a wide spectrum of phenotypes throughout life.

Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ.

Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11.

PMID:
25960145
47.

Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.

Straathof CS, Van Heusden D, Ippel PF, Post JG, Voermans NC, De Visser M, Brusse E, Van Den Bergen JC, Van Der Kooi AJ, Verschuuren JJ, Ginjaar HB.

Muscle Nerve. 2016 Jan;53(1):44-8. doi: 10.1002/mus.24691. Epub 2015 Jun 3.

PMID:
25900853
48.

The neuromuscular differential diagnosis of joint hypermobility.

Donkervoort S, Bonnemann CG, Loeys B, Jungbluth H, Voermans NC.

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):23-42. doi: 10.1002/ajmg.c.31433. Review. Erratum in: Am J Med Genet C Semin Med Genet. 2016 Jan;170A(1):285-6.

PMID:
25821091
49.

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
50.

Primary cataract as a key to recognition of myotonic dystrophy type 1.

Voermans NC, Erasmus CE, Ockeloen CW, Van Engelen BG, Eggink CA.

Eur J Ophthalmol. 2015 May 25;25(4):e46-9. doi: 10.5301/ejo.5000565.

PMID:
25655594

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