Maassen JA - Search Results

1

Distinct nuclear gene expression profiles in cells with mtDNA depletion and homoplasmic A3243G mutation.

Jahangir Tafrechi RS, Svensson PJ, Janssen GM, Szuhai K, Maassen JA, Raap AK. Jahangir Tafrechi RS, et al. Among authors: maassen ja. Mutat Res. 2005 Oct 15;578(1-2):43-52. doi: 10.1016/j.mrfmmm.2005.02.002. Mutat Res. 2005. PMID: 16202796

2

Molecular mechanisms of mitochondrial diabetes (MIDD).

Maassen JA, Janssen GM, 't Hart LM. Maassen JA, et al. Ann Med. 2005;37(3):213-21. doi: 10.1080/07853890510007188. Ann Med. 2005. PMID: 16019720 Review.

3

New insights in the molecular pathogenesis of the maternally inherited diabetes and deafness syndrome.

Maassen JA, Jahangir Tafrechi RS, Janssen GM, Raap AK, Lemkes HH, 't Hart LM. Maassen JA, et al. Endocrinol Metab Clin North Am. 2006 Jun;35(2):385-96, x-xi. doi: 10.1016/j.ecl.2006.02.014. Endocrinol Metab Clin North Am. 2006. PMID: 16632100 Review.

4

The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons.

Janssen GM, Hensbergen PJ, van Bussel FJ, Balog CI, Maassen JA, Deelder AM, Raap AK. Janssen GM, et al. Among authors: maassen ja. Hum Mol Genet. 2007 Oct 15;16(20):2472-81. doi: 10.1093/hmg/ddm203. Epub 2007 Jul 25. Hum Mol Genet. 2007. PMID: 17656376

5

Mitochondrial diabetes: molecular mechanisms and clinical presentation.

Maassen JA, 'T Hart LM, Van Essen E, Heine RJ, Nijpels G, Jahangir Tafrechi RS, Raap AK, Janssen GM, Lemkes HH. Maassen JA, et al. Diabetes. 2004 Feb;53 Suppl 1:S103-9. doi: 10.2337/diabetes.53.2007.s103. Diabetes. 2004. PMID: 14749274 Review.

6

Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene.

't Hart LM, Hansen T, Rietveld I, Dekker JM, Nijpels G, Janssen GM, Arp PA, Uitterlinden AG, Jørgensen T, Borch-Johnsen K, Pols HA, Pedersen O, van Duijn CM, Heine RJ, Maassen JA. 't Hart LM, et al. Among authors: maassen ja. Diabetes. 2005 Jun;54(6):1892-5. doi: 10.2337/diabetes.54.6.1892. Diabetes. 2005. PMID: 15919814 Free article.

7

Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR.

Szuhai K, Ouweland J, Dirks R, Lemaître M, Truffert J, Janssen G, Tanke H, Holme E, Maassen J, Raap A. Szuhai K, et al. Nucleic Acids Res. 2001 Feb 1;29(3):E13. doi: 10.1093/nar/29.3.e13. Nucleic Acids Res. 2001. PMID: 11160915 Free PMC article.

8

Molecular characterization of WFS1 in patients with Wolfram syndrome.

van ven Ouweland JM, Cryns K, Pennings RJ, Walraven I, Janssen GM, Maassen JA, Veldhuijzen BF, Arntzenius AB, Lindhout D, Cremers CW, Van Camp G, Dikkeschei LD. van ven Ouweland JM, et al. Among authors: maassen ja. J Mol Diagn. 2003 May;5(2):88-95. doi: 10.1016/s1525-1578(10)60457-6. J Mol Diagn. 2003. PMID: 12707373 Free PMC article.

9

Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.

Reiling E, van Vliet-Ostaptchouk JV, van 't Riet E, van Haeften TW, Arp PA, Hansen T, Kremer D, Groenewoud MJ, van Hove EC, Romijn JA, Smit JW, Nijpels G, Heine RJ, Uitterlinden AG, Pedersen O, Slagboom PE, Maassen JA, Hofker MH, 't Hart LM, Dekker JM. Reiling E, et al. Among authors: maassen ja. Eur J Hum Genet. 2009 Aug;17(8):1056-62. doi: 10.1038/ejhg.2009.4. Epub 2009 Feb 11. Eur J Hum Genet. 2009. PMID: 19209188 Free PMC article.

10

Mitochondrial diabetes: pathophysiology, clinical presentation, and genetic analysis.

Maassen JA. Maassen JA. Am J Med Genet. 2002 May 30;115(1):66-70. doi: 10.1002/ajmg.10346. Am J Med Genet. 2002. PMID: 12116179 Review.

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