De Meirleir L - Search Results

1

Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy.

De Meirleir L, Lissens W, Benelli C, Ponsot G, Desguerre I, Marsac C, Rodriguez D, Saudubray JM, Poggi F, Liebaers I. De Meirleir L, et al. Pediatr Res. 1994 Dec;36(6):707-12. doi: 10.1203/00006450-199412000-00004. Pediatr Res. 1994. PMID: 7898978

2

Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit.

de Meirleir LJ, Lissens W, Vamos E, Liebaers I. de Meirleir LJ, et al. J Inherit Metab Dis. 1991;14(3):301-4. doi: 10.1007/BF01811687. J Inherit Metab Dis. 1991. PMID: 1770778 No abstract available.

3

Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.

De Meirleir L, Lissens W, Vamos E, Liebaers I. De Meirleir L, et al. Hum Genet. 1992 Mar;88(6):649-52. doi: 10.1007/BF02265291. Hum Genet. 1992. PMID: 1551669

4

Characterisation of a cDNA for porcine PDH-E1 alpha and comparison with the human cDNA.

Sermon K, De Meirleir L, Elpers I, Lissens W, Liebaers I. Sermon K, et al. Among authors: de meirleir l. Nucleic Acids Res. 1990 Aug 25;18(16):4925. doi: 10.1093/nar/18.16.4925. Nucleic Acids Res. 1990. PMID: 2395657 Free PMC article. No abstract available.

5

Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene.

Lissens W, Desguerre I, Benelli C, Marsac C, Fouque F, Haenggeli C, Ponsot G, Seneca S, Liebaers I, De Meirleir L. Lissens W, et al. Among authors: de meirleir l. Hum Mol Genet. 1995 Feb;4(2):307-8. doi: 10.1093/hmg/4.2.307. Hum Mol Genet. 1995. PMID: 7757085 No abstract available.

6

Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis.

Michotte A, De Meirleir L, Lissens W, Denis R, Wayenberg JL, Liebaers I, Brucher JM. Michotte A, et al. Among authors: de meirleir l. Acta Neuropathol. 1993;85(6):674-8. doi: 10.1007/BF00334680. Acta Neuropathol. 1993. PMID: 8337946

7

Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis.

De Meirleir L, Lissens W, Denis R, Wayenberg JL, Michotte A, Brucher JM, Vamos E, Gerlo E, Liebaers I. De Meirleir L, et al. Pediatr Neurol. 1993 May-Jun;9(3):216-20. doi: 10.1016/0887-8994(93)90088-t. Pediatr Neurol. 1993. PMID: 8352855

8

E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.

Bonne G, Benelli C, De Meirleir L, Lissens W, Chaussain M, Diry M, Clot JP, Ponsot G, Geoffroy V, Leroux JP, et al. Bonne G, et al. Among authors: de meirleir l. Pediatr Res. 1993 Mar;33(3):284-8. doi: 10.1203/00006450-199303000-00016. Pediatr Res. 1993. PMID: 8460066

9

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

10

Pyruvate dehydrogenase complex deficiency and absence of subunit X.

De Meirleir L, Lissens W, Benelli C, Marsac C, De Klerk J, Scholte J, van Diggelen O, Kleijer W, Seneca S, Liebaers I. De Meirleir L, et al. Among authors: de klerk j. J Inherit Metab Dis. 1998 Feb;21(1):9-16. doi: 10.1023/a:1005351012066. J Inherit Metab Dis. 1998. PMID: 9501264

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