Voermans NC - Search Results

1

The neuromuscular differential diagnosis of joint hypermobility.

Donkervoort S, Bonnemann CG, Loeys B, Jungbluth H, Voermans NC. Donkervoort S, et al. Among authors: voermans nc. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):23-42. doi: 10.1002/ajmg.c.31433. Am J Med Genet C Semin Med Genet. 2015. PMID: 25821091 Review.

2

Clinical and molecular overlap between myopathies and inherited connective tissue diseases.

Voermans NC, Bönnemann CG, Huijing PA, Hamel BC, van Kuppevelt TH, de Haan A, Schalkwijk J, van Engelen BG, Jenniskens GJ. Voermans NC, et al. Neuromuscul Disord. 2008 Nov;18(11):843-56. doi: 10.1016/j.nmd.2008.05.017. Epub 2008 Sep 24. Neuromuscul Disord. 2008. PMID: 18818079 Review.

3

Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.

Voermans NC, Bonnemann CG, Hamel BC, Jungbluth H, van Engelen BG. Voermans NC, et al. J Neurol. 2009 Jan;256(1):13-27. doi: 10.1007/s00415-009-0105-1. Epub 2009 Feb 9. J Neurol. 2009. PMID: 19221853 Review.

4

Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome.

Voermans NC, Bönnemann CG, Lammens M, van Engelen BG, Hamel BC. Voermans NC, et al. Am J Med Genet A. 2009 Oct;149A(10):2311-6. doi: 10.1002/ajmg.a.32997. Am J Med Genet A. 2009. PMID: 19760654 No abstract available.

5

Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.

Voermans NC, Kempers M, Lammens M, van Alfen N, Janssen MC, Bönnemann C, van Engelen BG, Hamel BC. Voermans NC, et al. Am J Med Genet A. 2012 Apr;158A(4):850-5. doi: 10.1002/ajmg.a.35232. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407744 Free PMC article.

6

Congenital myopathy with focal loss of cross-striations revisited.

Voermans NC, Jungbluth H, Aronica E, Monnier N, Lunardi J, Swash M, de Visser M. Voermans NC, et al. Neuromuscul Disord. 2013 Feb;23(2):160-4. doi: 10.1016/j.nmd.2012.08.010. Epub 2012 Nov 3. Neuromuscul Disord. 2013. PMID: 23127960

7

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G, Quinlivan R, Snoeck M, Norwood F, Radunovic A, Straub V, Roberts M, Vrancken AF, van der Pol WL, de Coo RI, Manzur AY, Yau S, Abbs S, King A, Lammens M, Hopkins PM, Mohammed S, Treves S, Muntoni F, Wraige E, Davis MR, van Engelen B, Jungbluth H. Dlamini N, et al. Among authors: voermans nc. Neuromuscul Disord. 2013 Jul;23(7):540-8. doi: 10.1016/j.nmd.2013.03.008. Epub 2013 Apr 28. Neuromuscul Disord. 2013. PMID: 23628358

8

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.

Kraeva N, Heytens L, Jungbluth H, Treves S, Voermans N, Kamsteeg E, Ceuterick-de Groote C, Baets J, Riazi S. Kraeva N, et al. Neuromuscul Disord. 2015 Jul;25(7):567-76. doi: 10.1016/j.nmd.2015.04.007. Epub 2015 Apr 27. Neuromuscul Disord. 2015. PMID: 25958340

9

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. Snoeck M, et al. Among authors: voermans nc. Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11. Eur J Neurol. 2015. PMID: 25960145

10

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

Snoeck M, Treves S, Molenaar JP, Kamsteeg EJ, Jungbluth H, Voermans NC. Snoeck M, et al. Among authors: voermans nc. Cell Biochem Biophys. 2016 Mar;74(1):85-7. doi: 10.1007/s12013-015-0704-7. Cell Biochem Biophys. 2016. PMID: 26972305 No abstract available.

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