Hamel B - 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: hamel b. Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4. Clin Genet. 2017. PMID: 27582382

2

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. Among authors: hamel bc. 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.

3

Neuromuscular involvement in various types of Ehlers-Danlos syndrome.

Voermans NC, van Alfen N, Pillen S, Lammens M, Schalkwijk J, Zwarts MJ, van Rooij IA, Hamel BC, van Engelen BG. Voermans NC, et al. Ann Neurol. 2009 Jun;65(6):687-97. doi: 10.1002/ana.21643. Ann Neurol. 2009. PMID: 19557868

4

Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases.

Hendriks AGM, Voermans NC, Schalkwijk J, Hamel BC, van Rossum MM. Hendriks AGM, et al. Clin Dysmorphol. 2012 Jan;21(1):15-18. doi: 10.1097/MCD.0b013e32834c4bb7. Clin Dysmorphol. 2012. PMID: 21959861

5

Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome.

Voermans NC, Knoop H, van de Kamp N, Hamel BC, Bleijenberg G, van Engelen BG. Voermans NC, et al. Semin Arthritis Rheum. 2010 Dec;40(3):267-74. doi: 10.1016/j.semarthrit.2009.08.003. Epub 2009 Oct 30. Semin Arthritis Rheum. 2010. PMID: 19878973

6

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. Among authors: hamel bc. 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

7

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. Among authors: hamel bc. 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.

8

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. Among authors: hamel bc. 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.

9

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. Among authors: hamel bc. 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.

10

Neuromuscular features in Marfan syndrome.

Voermans Nc, Timmermans J, van Alfen N, Pillen S, op den Akker J, Lammens M, Zwarts MJ, van Rooij IA, Hamel BC, van Engelen BG. Voermans Nc, et al. Among authors: hamel bc. Clin Genet. 2009 Jul;76(1):25-37. doi: 10.1111/j.1399-0004.2009.01197.x. Clin Genet. 2009. PMID: 19659760

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