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Items: 1 to 50 of 136

1.

High incidence of falls in patients with myotonic dystrophy type 1 and 2: A prospective study.

Berends J, Tieleman AA, Horlings CGC, Smulders FHP, Voermans NC, van Engelen BGM, Raaphorst J.

Neuromuscul Disord. 2019 Aug 28. pii: S0960-8966(19)31103-4. doi: 10.1016/j.nmd.2019.08.012. [Epub ahead of print]

PMID:
31540818
2.

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations.

Voermans NC, van der Bilt RC, IJspeert J, Hogrel JY, Jeanpierre M, Behin A, Laforet P, Stojkovic T, van Engelen BG, Padberg GW, Sacconi S, Lemmers RJLF, van der Maarel SM, Eymard B, Bassez G.

J Neurol. 2019 Aug 31. doi: 10.1007/s00415-019-09494-8. [Epub ahead of print]

PMID:
31471688
3.

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.

van Tol W, van Scherpenzeel M, Alsady M, Riemersma M, Hermans E, Kragt E, Tasca G, Kamsteeg EJ, Pennings M, van Beusekom E, Vermeulen JR, van Bokhoven H, Voermans NC, Willemsen MA, Ashikov A, Lefeber DJ.

Clin Chem. 2019 Oct;65(10):1295-1306. doi: 10.1373/clinchem.2019.305391. Epub 2019 Aug 2.

PMID:
31375477
4.

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC.

J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376.

PMID:
31127727
5.

Muscle fiber dysfunction contributes to weakness in inclusion body myositis.

Lassche S, Rietveld A, Heerschap A, van Hees HW, Hopman MT, Voermans NC, Saris CG, van Engelen BG, Ottenheijm CA.

Neuromuscul Disord. 2019 Jun;29(6):468-476. doi: 10.1016/j.nmd.2019.03.001. Epub 2019 Mar 7.

PMID:
31101463
6.

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato F, Treves S.

Hum Mutat. 2019 Jul;40(7):962-974. doi: 10.1002/humu.23745. Epub 2019 Apr 1.

PMID:
30932294
7.

Author response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1.

Voermans NC, Goselink RJ.

Neurology. 2019 Mar 26;92(13):637. doi: 10.1212/WNL.0000000000007171. No abstract available.

PMID:
30910947
8.

Skeletal muscle toxicity associated with tyrosine kinase inhibitor therapy in patients with chronic myeloid leukemia.

Janssen L, Frambach SJCM, Allard NAE, Hopman MTE, Schirris TJJ, Voermans NC, Rodenburg RJ, Blijlevens NMA, Timmers S.

Leukemia. 2019 Aug;33(8):2116-2120. doi: 10.1038/s41375-019-0443-7. Epub 2019 Mar 14. No abstract available.

9.

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.

Knuiman GJ, Küsters B, Eshuis L, Snoeck M, Lammens M, Heytens L, De Ridder W, Baets J, Scalco RS, Quinlivan R, Holton J, Bodi I, Wraige E, Radunovic A, von Landenberg C, Reimann J, Kamsteeg EJ, Sewry C, Jungbluth H, Voermans NC.

J Neurol. 2019 Apr;266(4):876-887. doi: 10.1007/s00415-019-09209-z. Epub 2019 Feb 20.

10.

A novel role for the extracellular matrix glycoprotein-Tenascin-X in gastric function.

Aktar R, Peiris M, Fikree A, Eaton S, Kritas S, Kentish SJ, Araujo EJA, Bacarin C, Page AJ, Voermans NC, Aziz Q, Blackshaw LA.

J Physiol. 2019 Mar;597(6):1503-1515. doi: 10.1113/JP277195. Epub 2019 Jan 23.

11.

Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study.

van Ruitenbeek E, Custers JAE, Verhaak C, Snoeck M, Erasmus CE, Kamsteeg EJ, Schouten MI, Coleman C, Treves S, Van Engelen BG, Jungbluth H, Voermans NC.

Neuromuscul Disord. 2019 Jan;29(1):30-38. doi: 10.1016/j.nmd.2018.10.006. Epub 2018 Nov 9.

PMID:
30578099
12.

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
13.

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 Nov;28(11):938-946. doi: 10.1016/j.nmd.2018.09.003. Epub 2018 Sep 19.

PMID:
30342904
14.

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
15.

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
16.

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.

17.

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 Nov;84(5):627-637. doi: 10.1002/ana.25326. Epub 2018 Oct 16.

18.

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
19.

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.

20.

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.

21.

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.

22.

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.

23.

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.

24.

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.

25.

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
26.

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.

27.

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.

28.

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
29.

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.

30.

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
31.

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
32.

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.

33.

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
34.

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. 2018 Aug;44(5):533-536. doi: 10.1111/nan.12431. No abstract available.

PMID:
28801956
35.

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.

36.

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
37.

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
38.

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
39.

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
40.

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
41.

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.

42.

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
43.

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
44.

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
45.

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
46.

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
47.

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.

48.

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
49.

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
50.

[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

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