Di Michele M - Search Results

1

Unravelling the disease mechanism for TSPYL1 deficiency.

Buyse G, Di Michele M, Wijgaerts A, Louwette S, Wittevrongel C, Thys C, Downes K, Ceulemans B, Van Esch H, Van Geet C, Freson K. Buyse G, et al. Among authors: di michele m. Hum Mol Genet. 2020 Dec 18;29(20):3431-3442. doi: 10.1093/hmg/ddaa233. Hum Mol Genet. 2020. PMID: 33075815 Free article.

2

Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood.

Di Michele M, Goubau C, Waelkens E, Thys C, De Vos R, Overbergh L, Schyns T, Buyse G, Casaer P, Van Geet C, Freson K. Di Michele M, et al. J Proteomics. 2013 Jun 28;86:53-69. doi: 10.1016/j.jprot.2013.05.005. Epub 2013 May 13. J Proteomics. 2013. PMID: 23681173

3

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect.

Goubau C, Jaeken J, Levtchenko EN, Thys C, Di Michele M, Martens GA, Gerlo E, De Vos R, Buyse GM, Goemans N, Van Geet C, Freson K. Goubau C, et al. Among authors: di michele m. Genet Med. 2013 Jan;15(1):55-63. doi: 10.1038/gim.2012.90. Epub 2012 Aug 16. Genet Med. 2013. PMID: 22899094 Free article.

4

Regulated granule trafficking in platelets and neurons: a common molecular machinery.

Goubau C, Buyse GM, Di Michele M, Van Geet C, Freson K. Goubau C, et al. Among authors: di michele m. Eur J Paediatr Neurol. 2013 Mar;17(2):117-25. doi: 10.1016/j.ejpn.2012.08.005. Epub 2012 Aug 28. Eur J Paediatr Neurol. 2013. PMID: 22951324 Review.

5

Proteomics to unravel platelet-related diseases and identify novel anti-platelet drugs.

Di Michele M, Van Geet C, Freson K. Di Michele M, et al. Curr Med Chem. 2012;19(27):4662-70. doi: 10.2174/092986712803306312. Curr Med Chem. 2012. PMID: 22830337 Review.

6

Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation.

Noé L, Di Michele M, Giets E, Thys C, Wittevrongel C, De Vos R, Overbergh L, Waelkens E, Jaeken J, Van Geet C, Freson K. Noé L, et al. Among authors: di michele m. J Thromb Haemost. 2010 Jul;8(7):1594-603. doi: 10.1111/j.1538-7836.2010.03885.x. Epub 2010 Apr 16. J Thromb Haemost. 2010. PMID: 20403096 Free article.

7

An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect.

Di Michele M, Thys C, Waelkens E, Overbergh L, D'Hertog W, Mathieu C, De Vos R, Peerlinck K, Van Geet C, Freson K. Di Michele M, et al. J Proteomics. 2011 May 16;74(6):902-13. doi: 10.1016/j.jprot.2011.03.007. Epub 2011 Mar 23. J Proteomics. 2011. PMID: 21406263

8

Recent advances in platelet proteomics.

Di Michele M, Van Geet C, Freson K. Di Michele M, et al. Expert Rev Proteomics. 2012 Aug;9(4):451-66. doi: 10.1586/epr.12.31. Expert Rev Proteomics. 2012. PMID: 22967081 Review.

9

A novel mechanism of sustained platelet αIIbβ3 activation via PEAR1.

Kauskot A, Di Michele M, Loyen S, Freson K, Verhamme P, Hoylaerts MF. Kauskot A, et al. Among authors: di michele m. Blood. 2012 Apr 26;119(17):4056-65. doi: 10.1182/blood-2011-11-392787. Epub 2012 Feb 27. Blood. 2012. PMID: 22371881 Free article.

10

Platelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activity.

Nuytens K, Tuand K, Di Michele M, Boonen K, Waelkens E, Freson K, Creemers JW. Nuytens K, et al. Among authors: di michele m. Mol Autism. 2013 Nov 4;4(1):43. doi: 10.1186/2040-2392-4-43. Mol Autism. 2013. PMID: 24188528 Free PMC article.

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