Willemsen R - Search Results

1

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM. Meuwissen ME, et al. Among authors: willemsen r. J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20. J Exp Med. 2016. PMID: 27325888 Free PMC article. Clinical Trial.

2

Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency.

Galjaard H, Willemsen R, Hoogeveen AT, Mancini GM, Palmeri S, Verheijen FW, D'Azzo A. Galjaard H, et al. Among authors: willemsen r. Enzyme. 1987;38(1-4):132-43. doi: 10.1159/000469199. Enzyme. 1987. PMID: 3126043 Review.

3

Juvenile hyaline fibromatosis: clinical heterogeneity in three patients.

Mancini GM, Stojanov L, Willemsen R, Kleijer WJ, Huijmans JG, van Diggelen OP, de Klerk JB, Vuzevski VD, Oranje AP. Mancini GM, et al. Among authors: willemsen r. Dermatology. 1999;198(1):18-25. doi: 10.1159/000018058. Dermatology. 1999. PMID: 10026396

4

Prospects of TAT-mediated protein therapy for fragile X syndrome.

Reis SA, Willemsen R, van Unen L, Hoogeveen AT, Oostra BA. Reis SA, et al. Among authors: willemsen r. J Mol Histol. 2004 May;35(4):389-95. doi: 10.1023/b:hijo.0000039841.22959.3c. J Mol Histol. 2004. PMID: 15503812

5

Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene.

van 't Padje S, Engels B, Blonden L, Severijnen LA, Verheijen F, Oostra BA, Willemsen R. van 't Padje S, et al. Among authors: willemsen r. Dev Genes Evol. 2005 Apr;215(4):198-206. doi: 10.1007/s00427-005-0466-0. Epub 2005 Jan 27. Dev Genes Evol. 2005. PMID: 15818485

6

The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair.

Bergink S, Severijnen LA, Wijgers N, Sugasawa K, Yousaf H, Kros JM, van Swieten J, Oostra BA, Hoeijmakers JH, Vermeulen W, Willemsen R. Bergink S, et al. Among authors: willemsen r. Neurobiol Dis. 2006 Sep;23(3):708-16. doi: 10.1016/j.nbd.2006.06.005. Epub 2006 Jul 24. Neurobiol Dis. 2006. PMID: 16860562

7

A crucial role of caldesmon in vascular development in vivo.

Zheng PP, Severijnen LA, van der Weiden M, Willemsen R, Kros JM. Zheng PP, et al. Among authors: willemsen r. Cardiovasc Res. 2009 Feb 1;81(2):362-9. doi: 10.1093/cvr/cvn294. Epub 2008 Nov 3. Cardiovasc Res. 2009. PMID: 18980955

8

Caldesmon is essential for cardiac morphogenesis and function: in vivo study using a zebrafish model.

Zheng PP, Severijnen LA, Willemsen R, Kros JM. Zheng PP, et al. Among authors: willemsen r. Biochem Biophys Res Commun. 2009 Jan 2;378(1):37-40. doi: 10.1016/j.bbrc.2008.10.165. Epub 2008 Nov 10. Biochem Biophys Res Commun. 2009. PMID: 19000902

9

Reduction of caldesmon expression induces apoptosis and causes disassembly of the sarcomeric protein complex in cardiomyocytes in vivo.

Zheng PP, Severijnen LA, Willemsen R, Kros JM. Zheng PP, et al. Among authors: willemsen r. Cell Cycle. 2009 Jan 15;8(2):325-6. doi: 10.4161/cc.8.2.7344. Epub 2009 Jan 4. Cell Cycle. 2009. PMID: 19158512 No abstract available.

10

Haemoglobin staining for in vivo portraying of functional vasculature in experimental zebrafish embryos.

Zheng PP, Severijnen LA, Willemsen R, Kros JM. Zheng PP, et al. Among authors: willemsen r. Biochem Biophys Res Commun. 2009 Mar 20;380(4):823-4. doi: 10.1016/j.bbrc.2009.01.175. Epub 2009 Feb 5. Biochem Biophys Res Commun. 2009. PMID: 19338760

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