Creemers JW - Search Results

1

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW. Chabrol B, et al. Among authors: creemers jw. J Med Genet. 2008 May;45(5):314-8. doi: 10.1136/jmg.2007.055475. Epub 2008 Jan 30. J Med Genet. 2008. PMID: 18234729

2

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW. Chabrol B, et al. Among authors: creemers jw. BMJ Case Rep. 2009;2009:bcr08.2008.0719. doi: 10.1136/bcr.08.2008.0719. Epub 2009 Feb 2. BMJ Case Rep. 2009. PMID: 21686663 Free PMC article.

3

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.

Martens K, Heulens I, Meulemans S, Zaffanello M, Tilstra D, Hes FJ, Rooman R, François I, de Zegher F, Jaeken J, Matthijs G, Creemers JW. Martens K, et al. Among authors: creemers jw. Eur J Hum Genet. 2007 Oct;15(10):1029-33. doi: 10.1038/sj.ejhg.5201881. Epub 2007 Jun 20. Eur J Hum Genet. 2007. PMID: 17579669

4

Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.

Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G. Jaeken J, et al. Among authors: creemers jw. Am J Hum Genet. 2006 Jan;78(1):38-51. doi: 10.1086/498852. Epub 2005 Nov 23. Am J Hum Genet. 2006. PMID: 16385448 Free PMC article.

5

Two novel deletions in hypotonia-cystinuria syndrome.

Régal L, Aydin HI, Dieltjens AM, Van Esch H, Francois I, Okur I, Zeybek C, Meulemans S, Van Mol C, Van Bruwaene L, Then SH, Jaeken J, Creemers J. Régal L, et al. Mol Genet Metab. 2012 Nov;107(3):614-6. doi: 10.1016/j.ymgme.2012.06.011. Epub 2012 Jun 26. Mol Genet Metab. 2012. PMID: 22796000

6

Multi-system disorder syndromes associated with cystinuria type I.

Martens K, Jaeken J, Matthijs G, Creemers JW. Martens K, et al. Among authors: creemers jw. Curr Mol Med. 2008 Sep;8(6):544-50. doi: 10.2174/156652408785747997. Curr Mol Med. 2008. PMID: 18781961 Review.

7

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

Régal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG. Régal L, et al. Among authors: creemers jw. Neurology. 2014 Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7. Neurology. 2014. PMID: 24610330 Free PMC article.

8

PREPL: a putative novel oligopeptidase propelled into the limelight.

Martens K, Derua R, Meulemans S, Waelkens E, Jaeken J, Matthijs G, Creemers JW. Martens K, et al. Among authors: creemers jw. Biol Chem. 2006 Jul;387(7):879-83. doi: 10.1515/BC.2006.111. Biol Chem. 2006. PMID: 16913837 Review.

9

PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients.

Boonen K, Régal L, Jaeken J, Creemers JW. Boonen K, et al. Among authors: creemers jw. CNS Neurol Disord Drug Targets. 2011 May;10(3):355-60. doi: 10.2174/187152711794653760. CNS Neurol Disord Drug Targets. 2011. PMID: 21222627

10

PREPL deficiency: delineation of the phenotype and development of a functional blood assay.

Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM. Régal L, et al. Genet Med. 2018 Jan;20(1):109-118. doi: 10.1038/gim.2017.74. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726805 Free article.

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