De Meirleir L - Search Results

1

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.

2

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

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

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.

De Meirleir L, Seneca S, Damis E, Sepulchre B, Hoorens A, Gerlo E, García Silva MT, Hernandez EM, Lissens W, Van Coster R. De Meirleir L, et al. Am J Med Genet A. 2003 Aug 30;121A(2):126-31. doi: 10.1002/ajmg.a.20171. Am J Med Genet A. 2003. PMID: 12910490

8

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

9

Importance of sequence analysis in NARP syndrome.

Seneca S, De Meirleir L, Liebaers I, Lissens W. Seneca S, et al. Among authors: de meirleir l. J Inherit Metab Dis. 1995;18(1):97-8. doi: 10.1007/BF00711391. J Inherit Metab Dis. 1995. PMID: 7623460 No abstract available.

10

Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.

Lissens W, De Meirleir L, Seneca S, Benelli C, Marsac C, Poll-The BT, Briones P, Ruitenbeek W, van Diggelen O, Chaigne D, Ramaekers V, Liebaers I. Lissens W, et al. Among authors: de meirleir l. Hum Mutat. 1996;7(1):46-51. doi: 10.1002/(SICI)1098-1004(1996)7:1<46::AID-HUMU6>3.0.CO;2-N. Hum Mutat. 1996. PMID: 8664900

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