Trijbels F - Search Results

1

Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene.

Grafakou O, Hol FA, Otfried Schwab K, Siers MH, ter Laak H, Trijbels F, Ensenauer R, Boelen C, Smeitink J. Grafakou O, et al. Among authors: trijbels f. J Inherit Metab Dis. 2003;26(6):593-600. doi: 10.1023/a:1025960300710. J Inherit Metab Dis. 2003. PMID: 14605505

2

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.

Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA. Coenen MJ, et al. Among authors: trijbels fj. N Engl J Med. 2004 Nov 11;351(20):2080-6. doi: 10.1056/NEJMoa041878. N Engl J Med. 2004. PMID: 15537906 Free article.

3

Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi.

Niers L, van den Heuvel L, Trijbels F, Sengers R, Smeitink J; Nijmegen Centre for Mitochondrial Disorders, The Netherlands. Niers L, et al. Among authors: trijbels f. J Inherit Metab Dis. 2003;26(7):647-58. doi: 10.1023/b:boli.0000005605.57420.b4. J Inherit Metab Dis. 2003. PMID: 14707513 Review.

4

The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology.

Triepels R, Smeitink J, Loeffen J, Smeets R, Buskens C, Trijbels F, van den Heuvel L. Triepels R, et al. Among authors: trijbels f. J Inherit Metab Dis. 1999 Apr;22(2):163-73. doi: 10.1023/a:1005402020569. J Inherit Metab Dis. 1999. PMID: 10234612

5

Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients.

Triepels R, Smeitink J, Loeffen J, Smeets R, Trijbels F, van den Heuvel L. Triepels R, et al. Among authors: trijbels f. Hum Genet. 2000 Apr;106(4):385-91. doi: 10.1007/s004390000278. Hum Genet. 2000. PMID: 10830904

6

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L. Loeffen J, et al. Among authors: trijbels f. Am J Hum Genet. 1998 Dec;63(6):1598-608. doi: 10.1086/302154. Am J Hum Genet. 1998. PMID: 9837812 Free PMC article.

7

The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.

Loeffen J, Smeets R, Smeitink J, Ruitenbeek W, Janssen A, Mariman E, Sengers R, Trijbels F, van den Heuvel L. Loeffen J, et al. Among authors: trijbels f. J Inherit Metab Dis. 1998 Jun;21(3):210-5. doi: 10.1023/a:1005339332062. J Inherit Metab Dis. 1998. PMID: 9686359 No abstract available.

8

Human NADH:ubiquinone oxidoreductase.

Smeitink J, Sengers R, Trijbels F, van den Heuvel L. Smeitink J, et al. Among authors: trijbels f. J Bioenerg Biomembr. 2001 Jun;33(3):259-66. doi: 10.1023/a:1010743321800. J Bioenerg Biomembr. 2001. PMID: 11695836

9

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.

Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stöckler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L. Loeffen J, et al. Among authors: trijbels f. Ann Neurol. 2001 Feb;49(2):195-201. doi: 10.1002/1531-8249(20010201)49:2<195::aid-ana39>3.0.co;2-m. Ann Neurol. 2001. PMID: 11220739

10

The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.

Loeffen J, Smeets R, Smeitink J, Triepels R, Sengers R, Trijbels F, van den Heuvel L. Loeffen J, et al. Among authors: trijbels f. J Inherit Metab Dis. 1999 Feb;22(1):19-28. doi: 10.1023/a:1005434912463. J Inherit Metab Dis. 1999. PMID: 10070614

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