Schalkwijk J - Search Results

1

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. Among authors: schalkwijk j. Ann Neurol. 2009 Jun;65(6):687-97. doi: 10.1002/ana.21643. Ann Neurol. 2009. PMID: 19557868

2

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J. Schalkwijk J, et al. N Engl J Med. 2001 Oct 18;345(16):1167-75. doi: 10.1056/NEJMoa002939. N Engl J Med. 2001. PMID: 11642233 Free article.

3

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.

Zweers MC, Bristow J, Steijlen PM, Dean WB, Hamel BC, Otero M, Kucharekova M, Boezeman JB, Schalkwijk J. Zweers MC, et al. Among authors: schalkwijk j. Am J Hum Genet. 2003 Jul;73(1):214-7. doi: 10.1086/376564. Am J Hum Genet. 2003. PMID: 12865992 Free PMC article. No abstract available.

4

A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X.

Peeters AC, Kucharekova M, Timmermans J, van den Berkmortel FW, Boers GH, Nováková IR, Egging D, den Heijer M, Schalkwijk J. Peeters AC, et al. Among authors: schalkwijk j. Neth J Med. 2004 May;62(5):160-2. Neth J Med. 2004. PMID: 15366699 Free article.

5

Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.

Zweers MC, Dean WB, van Kuppevelt TH, Bristow J, Schalkwijk J. Zweers MC, et al. Among authors: schalkwijk j. Clin Genet. 2005 Apr;67(4):330-4. doi: 10.1111/j.1399-0004.2005.00401.x. Clin Genet. 2005. PMID: 15733269

6

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. Among authors: schalkwijk j. 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.

7

Interactions of human tenascin-X domains with dermal extracellular matrix molecules.

Egging D, van den Berkmortel F, Taylor G, Bristow J, Schalkwijk J. Egging D, et al. Among authors: schalkwijk j. Arch Dermatol Res. 2007 Jan;298(8):389-96. doi: 10.1007/s00403-006-0706-9. Epub 2006 Oct 11. Arch Dermatol Res. 2007. PMID: 17033827

8

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: schalkwijk j. 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.

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. Among authors: schalkwijk j. 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

Mild muscular features in tenascin-X knockout mice, a model of Ehlers-danlos syndrome.

Voermans NC, Verrijp K, Eshuis L, Balemans MC, Egging D, Sterrenburg E, van Rooij IA, van der Laak JA, Schalkwijk J, van der Maarel SM, Lammens M, van Engelen BG. Voermans NC, et al. Among authors: schalkwijk j. Connect Tissue Res. 2011 Oct;52(5):422-32. doi: 10.3109/03008207.2010.551616. Epub 2011 Mar 15. Connect Tissue Res. 2011. PMID: 21405982

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