De Meirleir L - Search Results

1

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

2

Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency.

Meulemans A, Lissens W, Van Coster R, De Meirleir L, Smet J, Nassogne MC, Liebaers I, Seneca S. Meulemans A, et al. Among authors: de meirleir l. Eur J Paediatr Neurol. 2004;8(6):299-306. doi: 10.1016/j.ejpn.2004.07.006. Eur J Paediatr Neurol. 2004. PMID: 15542384

3

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

4

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

5

Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.

De Meirleir L, Seneca S, Lissens W, Schoentjes E, Desprechins B. De Meirleir L, et al. Pediatr Neurol. 1995 Oct;13(3):242-6. doi: 10.1016/0887-8994(95)00184-h. Pediatr Neurol. 1995. PMID: 8554662

6

A novel mitochondrial transfer RNA proline mutation.

Seneca S, Ceuterik-De Groote C, Van Coster R, De Meirleir L. Seneca S, et al. Among authors: de meirleir l. J Inherit Metab Dis. 2000 Dec;23(8):853-4. doi: 10.1023/a:1026729223050. J Inherit Metab Dis. 2000. PMID: 11196116 No abstract available.

7

A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome.

Seneca S, Verhelst H, De Meirleir L, Meire F, Ceuterick-De Groote C, Lissens W, Van Coster R. Seneca S, et al. Among authors: de meirleir l. Arch Neurol. 2001 Jul;58(7):1113-8. doi: 10.1001/archneur.58.7.1113. Arch Neurol. 2001. PMID: 11448301 Review.

8

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.

9

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

10

Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.

Jansen AC, Cao H, Kaplan P, Silver K, Leonard G, De Meirleir L, Lissens W, Liebaers I, Veilleux M, Andermann F, Hegele RA, Andermann E. Jansen AC, et al. Among authors: de meirleir l. Arch Neurol. 2007 Nov;64(11):1629-34. doi: 10.1001/archneur.64.11.1629. Arch Neurol. 2007. PMID: 17998446

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