Leroy JG - Search Results

1

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects.

de Paepe B, Smet J, Leroy JG, Seneca S, George E, Matthys D, van Maldergem L, Scalais E, Lissens W, de Meirleir L, Meulemans A, van Coster R. de Paepe B, et al. Among authors: leroy jg. Pediatr Res. 2006 Jan;59(1):2-6. doi: 10.1203/01.pdr.0000191294.34122.ab. Epub 2005 Dec 2. Pediatr Res. 2006. PMID: 16327006

2

Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects.

Van Coster R, Smet J, George E, De Meirleir L, Seneca S, Van Hove J, Sebire G, Verhelst H, De Bleecker J, Van Vlem B, Verloo P, Leroy J. Van Coster R, et al. Pediatr Res. 2001 Nov;50(5):658-65. doi: 10.1203/00006450-200111000-00020. Pediatr Res. 2001. PMID: 11641463

3

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.

Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys B, Lill R, Van Laer L, Van Coster R. Ajit Bolar N, et al. Among authors: leroy jg. Hum Mol Genet. 2013 Jul 1;22(13):2590-602. doi: 10.1093/hmg/ddt107. Epub 2013 Mar 5. Hum Mol Genet. 2013. PMID: 23462291

4

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.

Smet J, Seneca S, De Paepe B, Meulemans A, Verhelst H, Leroy J, De Meirleir L, Lissens W, Van Coster R. Smet J, et al. Electrophoresis. 2009 Oct;30(20):3565-72. doi: 10.1002/elps.200900213. Electrophoresis. 2009. PMID: 19862739

5

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.

Van Coster R, Seneca S, Smet J, Van Hecke R, Gerlo E, Devreese B, Van Beeumen J, Leroy JG, De Meirleir L, Lissens W. Van Coster R, et al. Among authors: leroy jg. Am J Med Genet A. 2003 Jul 1;120A(1):13-8. doi: 10.1002/ajmg.a.10202. Am J Med Genet A. 2003. PMID: 12794685

6

Aminoacylase I deficiency: a novel inborn error of metabolism.

Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet JE, De Praeter CM, Meersschaut VA, De Meirleir LJ, Seneca SH, Devreese B, Leroy JG, Herga S, Perrier JP, Wevers RA, Lissens W. Van Coster RN, et al. Among authors: leroy jg. Biochem Biophys Res Commun. 2005 Dec 23;338(3):1322-6. doi: 10.1016/j.bbrc.2005.10.126. Epub 2005 Nov 2. Biochem Biophys Res Commun. 2005. PMID: 16274666

7

MRI findings in a neonate with cerebellar agenesis.

Van Coster RN, De Praeter CM, Vanhaesebrouck PJ, Leroy JG. Van Coster RN, et al. Among authors: leroy jg. Pediatr Neurol. 1998 Aug;19(2):139-42. doi: 10.1016/s0887-8994(98)00023-x. Pediatr Neurol. 1998. PMID: 9744635

8

Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.

Loeys BL, Van Coster RN, Defreyne LR, Leroy JG. Loeys BL, et al. Among authors: leroy jg. Eur J Pediatr. 1999 Aug;158(8):650-2. doi: 10.1007/s004310051169. Eur J Pediatr. 1999. PMID: 10445344

9

Dominant inheritance of sialuria, an inborn error of feedback inhibition.

Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA. Leroy JG, et al. Am J Hum Genet. 2001 Jun;68(6):1419-27. doi: 10.1086/320598. Epub 2001 Apr 18. Am J Hum Genet. 2001. PMID: 11326336 Free PMC article.

10

Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: a new example of the Chitty syndrome.

Van Daele SG, Van Coster RN, Meire F, Smets AM, Leroy JG. Van Daele SG, et al. Among authors: leroy jg. Am J Med Genet. 1996 Oct 28;65(3):205-8. doi: 10.1002/(SICI)1096-8628(19961028)65:3<205::AID-AJMG6>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 9240744

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