De Paepe B - Search Results

1

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Seneca S, Vancampenhout K, Van Coster R, Smet J, Lissens W, Vanlander A, De Paepe B, Jonckheere A, Stouffs K, De Meirleir L. Seneca S, et al. Among authors: de meirleir l, de paepe b. Eur J Hum Genet. 2015 Jan;23(1):41-8. doi: 10.1038/ejhg.2014.49. Epub 2014 Mar 26. Eur J Hum Genet. 2015. PMID: 24667782 Free PMC article.

2

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: de meirleir l. 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

3

A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.

Meulemans A, Seneca S, Lagae L, Lissens W, De Paepe B, Smet J, Van Coster R, De Meirleir L. Meulemans A, et al. Among authors: de meirleir l, de paepe b. Arch Neurol. 2006 Aug;63(8):1194-8. doi: 10.1001/archneur.63.8.1194. Arch Neurol. 2006. PMID: 16908752

4

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

Meulemans A, Seneca S, Smet J, De Paepe B, Lissens W, Van Coster R, Debeer A, De Meirleir L, Jaeken J. Meulemans A, et al. Among authors: de meirleir l, de paepe b. Eur J Paediatr Neurol. 2007 Jan;11(1):17-20. doi: 10.1016/j.ejpn.2006.10.004. Epub 2006 Dec 11. Eur J Paediatr Neurol. 2007. PMID: 17161635

5

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.

Meulemans A, De Paepe B, De Bleecker J, Smet J, Lissens W, Van Coster R, De Meirleir L, Seneca S. Meulemans A, et al. Among authors: de meirleir l, de paepe b, de bleecker j. Arch Neurol. 2007 Sep;64(9):1339-43. doi: 10.1001/archneur.64.9.1339. Arch Neurol. 2007. PMID: 17846276

6

Infantile presentation of the mitochondrial A8344G mutation.

Scalais E, Nuttin C, Seneca S, Smet J, De Paepe B, Martin JJ, Stevens R, Pierart F, Battisti O, Lissens W, De Meirleir L, Van Coster R. Scalais E, et al. Among authors: de meirleir l, de paepe b. Eur J Neurol. 2007 Nov;14(11):e3-5. doi: 10.1111/j.1468-1331.2007.01926.x. Eur J Neurol. 2007. PMID: 17956438 Free article. No abstract available.

7

Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects.

De Paepe B, Smet J, Lammens M, Seneca S, Martin JJ, De Bleecker J, De Meirleir L, Lissens W, Van Coster R. De Paepe B, et al. Among authors: de meirleir l, de bleecker j. J Clin Pathol. 2009 Feb;62(2):172-6. doi: 10.1136/jcp.2008.061267. J Clin Pathol. 2009. PMID: 19181635

8

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.

Roels F, Verloo P, Eyskens F, François B, Seneca S, De Paepe B, Martin JJ, Meersschaut V, Praet M, Scalais E, Espeel M, Smet J, Van Goethem G, Van Coster R. Roels F, et al. Among authors: de paepe b. BMC Clin Pathol. 2009 Jun 5;9:4. doi: 10.1186/1472-6890-9-4. BMC Clin Pathol. 2009. PMID: 19500334 Free PMC article.

9

Lactic acidosis in a newborn with adrenal calcifications.

Zecic A, Smet JE, De Praeter CM, Vanhaesebrouck P, Viscomi C, Van Den Broecke C, De Paepe B, Lohse P, Martin JJ, Jackson JG, Campbell CR, De Meirleir LJ, Zeviani M, Seneca SH, Lissens W, Van Coster RN. Zecic A, et al. Among authors: de paepe b, de meirleir lj, de praeter cm. Pediatr Res. 2009 Sep;66(3):317-22. doi: 10.1203/PDR.0b013e3181b40a80. Pediatr Res. 2009. PMID: 19581830 Free PMC article.

10

Histochemical methods for the diagnosis of mitochondrial diseases.

De Paepe B, De Bleecker JL, Van Coster R. De Paepe B, et al. Among authors: de bleecker jl. Curr Protoc Hum Genet. 2009 Oct;Chapter 19:Unit19.2. doi: 10.1002/0471142905.hg1902s63. Curr Protoc Hum Genet. 2009. PMID: 19806589

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