Mooyer PA - Search Results

1

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

Ebberink MS, Mooyer PA, Koster J, Dekker CJ, Eyskens FJ, Dionisi-Vici C, Clayton PT, Barth PG, Wanders RJ, Waterham HR. Ebberink MS, et al. Among authors: mooyer pa. Hum Mutat. 2009 Jan;30(1):93-8. doi: 10.1002/humu.20833. Hum Mutat. 2009. PMID: 18712838

2

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.

Brites P, Motley AM, Gressens P, Mooyer PA, Ploegaert I, Everts V, Evrard P, Carmeliet P, Dewerchin M, Schoonjans L, Duran M, Waterham HR, Wanders RJ, Baes M. Brites P, et al. Among authors: mooyer pa. Hum Mol Genet. 2003 Sep 15;12(18):2255-67. doi: 10.1093/hmg/ddg236. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915479

3

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism.

Ferdinandusse S, Falkenberg KD, Koster J, Mooyer PA, Jones R, van Roermund CWT, Pizzino A, Schrader M, Wanders RJA, Vanderver A, Waterham HR. Ferdinandusse S, et al. Among authors: mooyer pa. J Med Genet. 2017 May;54(5):330-337. doi: 10.1136/jmedgenet-2016-104132. Epub 2016 Oct 31. J Med Genet. 2017. PMID: 27799409

4

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gärtner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT. Ferdinandusse S, et al. Among authors: mooyer pa. Ann Neurol. 2006 Jan;59(1):92-104. doi: 10.1002/ana.20702. Ann Neurol. 2006. PMID: 16278854

5

A lethal defect of mitochondrial and peroxisomal fission.

Waterham HR, Koster J, van Roermund CW, Mooyer PA, Wanders RJ, Leonard JV. Waterham HR, et al. Among authors: mooyer pa. N Engl J Med. 2007 Apr 26;356(17):1736-41. doi: 10.1056/NEJMoa064436. N Engl J Med. 2007. PMID: 17460227 Free article.

6

Plasmalogens participate in very-long-chain fatty acid-induced pathology.

Brites P, Mooyer PA, El Mrabet L, Waterham HR, Wanders RJ. Brites P, et al. Among authors: mooyer pa. Brain. 2009 Feb;132(Pt 2):482-92. doi: 10.1093/brain/awn295. Epub 2008 Nov 20. Brain. 2009. PMID: 19022859

7

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.

Waterham HR, Koster J, Mooyer P, Noort Gv Gv, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC. Waterham HR, et al. Am J Hum Genet. 2003 Apr;72(4):1013-7. doi: 10.1086/373938. Epub 2003 Feb 28. Am J Hum Genet. 2003. PMID: 12618959 Free PMC article.

8

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy.

Kemp S, Valianpour F, Denis S, Ofman R, Sanders RJ, Mooyer P, Barth PG, Wanders RJ. Kemp S, et al. Mol Genet Metab. 2005 Feb;84(2):144-51. doi: 10.1016/j.ymgme.2004.09.015. Mol Genet Metab. 2005. PMID: 15670720

9

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.

van de Stadt SIW, Mooyer PAW, Dijkstra IME, Dekker CJM, Vats D, Vera M, Ruzhnikov MRZ, van Haren K, Tang N, Koop K, Willemsen MA, Hui J, Vaz FM, Ebberink MS, Engelen M, Kemp S, Ferdinandusse S. van de Stadt SIW, et al. Among authors: mooyer paw. Genes (Basel). 2021 Nov 30;12(12):1930. doi: 10.3390/genes12121930. Genes (Basel). 2021. PMID: 34946879 Free PMC article.

10

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy.

Kemp S, Mooyer PA, Bolhuis PA, van Geel BM, Mandel JL, Barth PG, Aubourg P, Wanders RJ. Kemp S, et al. Among authors: mooyer pa. J Inherit Metab Dis. 1996;19(5):667-74. doi: 10.1007/BF01799844. J Inherit Metab Dis. 1996. PMID: 8892025

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