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Items: 1 to 50 of 116

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.

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 Jul 6. pii: 10.1212/WNL.0000000000005958. doi: 10.1212/WNL.0000000000005958. [Epub ahead of print]

PMID:
29980640
3.

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
4.

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 Jun 19. doi: 10.1113/JP276300. [Epub ahead of print]

PMID:
29917237
5.

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
6.

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.

7.

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.

8.

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
9.

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
10.

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
11.

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
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.

PMID:
29030457
13.

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
14.

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
15.

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.

PMID:
28596275
16.

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
17.

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
18.

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
19.

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
20.

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
21.

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.

22.

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
23.

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
24.

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
25.

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
26.

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
27.

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.

28.

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
29.

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
30.

[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
31.

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.

32.

"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
33.

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
34.

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
35.

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
36.

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
37.

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.

38.

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
39.

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
40.

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
41.

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
42.

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
43.

Neurological manifestations of Ehlers-Danlos syndrome(s): A review.

Castori M, Voermans NC.

Iran J Neurol. 2014 Oct 6;13(4):190-208. Review.

44.

Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT.

Voermans NC, Benveniste O, Minnema MC, Lokhorst H, Lammens M, Meersseman W, Delforge M, Kuntzer T, Novy J, Pabst T, Bouhour F, Romero N, Leblond V, Bergh Pv, Vekemans MC, van Engelen BG, Eymard B.

Neurology. 2014 Dec 2;83(23):2133-9. doi: 10.1212/WNL.0000000000001047. Epub 2014 Nov 5.

45.

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bönnemann CG.

Hum Mutat. 2015 Jan;36(1):48-56. doi: 10.1002/humu.22691.

46.

Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene.

Molenaar JP, Voermans NC, van Hoeve BJ, Kamsteeg EJ, Kluijtmans LA, Kusters B, Jungbluth HJ, van Engelen BG.

Intern Med J. 2014 Aug;44(8):819-20. doi: 10.1111/imj.12498. No abstract available.

PMID:
25081049
47.

Prior medical conditions and the risk of amyotrophic lateral sclerosis.

Seelen M, van Doormaal PT, Visser AE, Huisman MH, Roozekrans MH, de Jong SW, van der Kooi AJ, de Visser M, Voermans NC, Veldink JH, van den Berg LH.

J Neurol. 2014 Oct;261(10):1949-56. doi: 10.1007/s00415-014-7445-1. Epub 2014 Jul 25.

PMID:
25059395
48.

No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy.

Seelen M, Visser AE, Overste DJ, Kim HJ, Palud A, Wong TH, van Swieten JC, Scheltens P, Voermans NC, Baas F, de Jong JM, van der Kooi AJ, de Visser M, Veldink JH, Taylor JP, Van Es MA, van den Berg LH.

Neurobiol Aging. 2014 Aug;35(8):1956.e9-1956.e11. doi: 10.1016/j.neurobiolaging.2014.01.152. Epub 2014 Feb 6.

PMID:
24612671
49.

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bönnemann CG.

Hum Mol Genet. 2014 May 1;23(9):2339-52. doi: 10.1093/hmg/ddt627. Epub 2013 Dec 11.

50.

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Voermans NC, Gerrits K, van Engelen BG, de Haan A.

Neuromuscul Disord. 2014 Jan;24(1):88-9. doi: 10.1016/j.nmd.2013.10.007. Epub 2013 Nov 5. No abstract available.

PMID:
24300784

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