Voermans NC - Search Results

1

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. Demirdas S, et al. Among authors: voermans nc. Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4. Clin Genet. 2017. PMID: 27582382

2

[Clinical reasoning and decision making in practice. A 23 year old woman with malaise, anorexia, fever and behavior changes].

Voermans NC, Hart W, van Engelen BG. Voermans NC, et al. Ned Tijdschr Geneeskd. 2004 May 29;148(22):1079-86. Ned Tijdschr Geneeskd. 2004. PMID: 15198060 Dutch.

3

The effect of dantrolene sodium in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.

Voermans NC, Poels PJ, Kluijtmans LA, van Engelen BG. Voermans NC, et al. Neuromuscul Disord. 2005 Dec;15(12):844-6. doi: 10.1016/j.nmd.2005.09.003. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288870

4

Recurrent neuropathy associated with Ehlers-Danlos syndrome.

Voermans NC, Drost G, van Kampen A, Gabreëls-Festen AA, Lammens M, Hamel BC, Schalkwijk J, van Engelen BG. Voermans NC, et al. J Neurol. 2006 May;253(5):670-1. doi: 10.1007/s00415-005-0056-0. Epub 2005 Nov 29. J Neurol. 2006. PMID: 16311893 No abstract available.

5

Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients.

Voermans NC, Altenburg TM, Hamel BC, de Haan A, van Engelen BG. Voermans NC, et al. Neuromuscul Disord. 2007 Aug;17(8):597-602. doi: 10.1016/j.nmd.2007.04.004. Epub 2007 Jun 27. Neuromuscul Disord. 2007. PMID: 17588758

6

Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies.

Voermans NC, Jenniskens GJ, Hamel BC, Schalkwijk J, Guicheney P, van Engelen BG. Voermans NC, et al. Am J Med Genet A. 2007 Sep 15;143A(18):2215-9. doi: 10.1002/ajmg.a.31899. Am J Med Genet A. 2007. PMID: 17702048 No abstract available.

7

Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant.

Voermans NC, Minnema M, Lammens M, Schelhaas HJ, Kooi AV, Lokhorst HM, van Engelen BG. Voermans NC, et al. Neurology. 2008 Aug 12;71(7):532-4. doi: 10.1212/01.wnl.0000310814.54623.6f. Epub 2008 Jun 18. Neurology. 2008. PMID: 18565829 Free article. No abstract available.

8

Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).

Voermans NC, van Engelen BG. Voermans NC, et al. Neuromuscul Disord. 2008 Nov;18(11):906; author reply 907. doi: 10.1016/j.nmd.2008.05.016. Epub 2008 Sep 23. Neuromuscul Disord. 2008. PMID: 18815038 No abstract available.

9

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.

10

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.

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